Incidental Mutation 'R7570:Nrxn1'
| ID |
585768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrxn1
|
| Ensembl Gene |
ENSMUSG00000024109 |
| Gene Name |
neurexin I |
| Synonyms |
neurexin I beta, alpha-latrotoxin receptor (calcium-dependent), A230068P09Rik, neurexin I alpha, neurexin I alpha, neurexin I beta, 1700062G21Rik, 9330127H16Rik, neurexin I alpha, neurexin I beta |
| MMRRC Submission |
045631-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7570 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
90033631-91093071 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 90162379 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 1288
(E1288A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054059]
[ENSMUST00000072671]
[ENSMUST00000159778]
[ENSMUST00000160800]
[ENSMUST00000160844]
[ENSMUST00000161402]
[ENSMUST00000172466]
[ENSMUST00000174331]
[ENSMUST00000174337]
[ENSMUST00000197104]
|
| AlphaFold |
Q9CS84 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054059
AA Change: E1280A
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000057294
Gene: ENSMUSG00000024109
AA Change: E1280A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
LamG
|
50 |
192 |
2.29e-31 |
SMART |
|
EGF
|
216 |
256 |
4.26e0 |
SMART |
|
LamG
|
304 |
438 |
2.3e-36 |
SMART |
|
LamG
|
492 |
644 |
2.74e-43 |
SMART |
|
EGF
|
671 |
705 |
1.58e-3 |
SMART |
|
LamG
|
730 |
869 |
7.27e-25 |
SMART |
|
LamG
|
917 |
1053 |
8.46e-35 |
SMART |
|
EGF
|
1078 |
1112 |
1.87e1 |
SMART |
|
LamG
|
1140 |
1297 |
7.74e-20 |
SMART |
|
low complexity region
|
1324 |
1355 |
N/A |
INTRINSIC |
|
low complexity region
|
1426 |
1441 |
N/A |
INTRINSIC |
|
4.1m
|
1444 |
1462 |
1.19e-6 |
SMART |
|
low complexity region
|
1481 |
1493 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072671
AA Change: E1280A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000072458
Gene: ENSMUSG00000024109
AA Change: E1280A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
LamG
|
50 |
192 |
2.29e-31 |
SMART |
|
EGF
|
216 |
256 |
4.26e0 |
SMART |
|
LamG
|
304 |
438 |
2.3e-36 |
SMART |
|
LamG
|
492 |
644 |
2.74e-43 |
SMART |
|
EGF
|
671 |
705 |
1.58e-3 |
SMART |
|
LamG
|
730 |
869 |
7.27e-25 |
SMART |
|
LamG
|
917 |
1053 |
8.46e-35 |
SMART |
|
EGF
|
1078 |
1112 |
1.87e1 |
SMART |
|
LamG
|
1140 |
1297 |
7.74e-20 |
SMART |
|
low complexity region
|
1324 |
1355 |
N/A |
INTRINSIC |
|
low complexity region
|
1423 |
1438 |
N/A |
INTRINSIC |
|
4.1m
|
1441 |
1459 |
1.19e-6 |
SMART |
|
low complexity region
|
1478 |
1490 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159778
AA Change: E219A
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125561
Gene: ENSMUSG00000024109
AA Change: E219A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
LamG
|
50 |
192 |
2.29e-31 |
SMART |
|
EGF
|
216 |
256 |
4.26e0 |
SMART |
|
LamG
|
284 |
418 |
2.3e-36 |
SMART |
|
LamG
|
472 |
624 |
2.74e-43 |
SMART |
|
EGF
|
651 |
685 |
1.58e-3 |
SMART |
|
LamG
|
710 |
849 |
7.27e-25 |
SMART |
|
LamG
|
897 |
1033 |
8.46e-35 |
SMART |
|
EGF
|
1058 |
1092 |
1.87e1 |
SMART |
|
LamG
|
1120 |
1277 |
7.74e-20 |
SMART |
|
low complexity region
|
1304 |
1335 |
N/A |
INTRINSIC |
|
low complexity region
|
1403 |
1418 |
N/A |
INTRINSIC |
|
4.1m
|
1421 |
1439 |
1.19e-6 |
SMART |
|
low complexity region
|
1458 |
1470 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160800
AA Change: E1276A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000124561
Gene: ENSMUSG00000024109
AA Change: E1276A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
LamG
|
50 |
192 |
2.29e-31 |
SMART |
|
EGF
|
216 |
256 |
4.26e0 |
SMART |
|
LamG
|
300 |
434 |
2.3e-36 |
SMART |
|
LamG
|
488 |
640 |
2.74e-43 |
SMART |
|
EGF
|
667 |
701 |
1.58e-3 |
SMART |
|
LamG
|
726 |
865 |
7.27e-25 |
SMART |
|
LamG
|
913 |
1049 |
8.46e-35 |
SMART |
|
EGF
|
1074 |
1108 |
1.87e1 |
SMART |
|
LamG
|
1136 |
1293 |
7.74e-20 |
SMART |
|
low complexity region
|
1320 |
1351 |
N/A |
INTRINSIC |
|
low complexity region
|
1422 |
1437 |
N/A |
INTRINSIC |
|
4.1m
|
1440 |
1458 |
1.19e-6 |
SMART |
|
low complexity region
|
1477 |
1489 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160844
AA Change: E1288A
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125407
Gene: ENSMUSG00000024109
AA Change: E1288A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
LamG
|
50 |
192 |
2.29e-31 |
SMART |
|
EGF
|
216 |
256 |
4.26e0 |
SMART |
|
LamG
|
304 |
446 |
1.24e-32 |
SMART |
|
LamG
|
500 |
652 |
2.74e-43 |
SMART |
|
EGF
|
679 |
713 |
1.58e-3 |
SMART |
|
LamG
|
738 |
877 |
7.27e-25 |
SMART |
|
LamG
|
925 |
1061 |
8.46e-35 |
SMART |
|
EGF
|
1086 |
1120 |
1.87e1 |
SMART |
|
LamG
|
1148 |
1305 |
7.74e-20 |
SMART |
|
low complexity region
|
1332 |
1363 |
N/A |
INTRINSIC |
|
low complexity region
|
1434 |
1449 |
N/A |
INTRINSIC |
|
4.1m
|
1452 |
1470 |
1.19e-6 |
SMART |
|
low complexity region
|
1489 |
1501 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161402
AA Change: E1295A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000124116
Gene: ENSMUSG00000024109
AA Change: E1295A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
LamG
|
50 |
192 |
2.29e-31 |
SMART |
|
EGF
|
216 |
256 |
4.26e0 |
SMART |
|
LamG
|
304 |
453 |
3.46e-31 |
SMART |
|
LamG
|
507 |
659 |
2.74e-43 |
SMART |
|
EGF
|
686 |
720 |
1.58e-3 |
SMART |
|
LamG
|
745 |
884 |
7.27e-25 |
SMART |
|
LamG
|
932 |
1068 |
8.46e-35 |
SMART |
|
EGF
|
1093 |
1127 |
1.87e1 |
SMART |
|
LamG
|
1155 |
1312 |
7.74e-20 |
SMART |
|
low complexity region
|
1339 |
1370 |
N/A |
INTRINSIC |
|
low complexity region
|
1441 |
1456 |
N/A |
INTRINSIC |
|
4.1m
|
1459 |
1477 |
1.19e-6 |
SMART |
|
low complexity region
|
1496 |
1508 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172466
AA Change: E249A
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000134402
Gene: ENSMUSG00000024109
AA Change: E249A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
LamG
|
109 |
266 |
7.74e-20 |
SMART |
|
low complexity region
|
293 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
410 |
N/A |
INTRINSIC |
|
4.1m
|
413 |
431 |
1.19e-6 |
SMART |
|
low complexity region
|
450 |
462 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174331
AA Change: E1258A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133491
Gene: ENSMUSG00000024109
AA Change: E1258A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
LamG
|
50 |
192 |
2.29e-31 |
SMART |
|
EGF
|
216 |
256 |
4.26e0 |
SMART |
|
LamG
|
304 |
446 |
1.24e-32 |
SMART |
|
LamG
|
500 |
652 |
2.74e-43 |
SMART |
|
EGF
|
679 |
713 |
1.58e-3 |
SMART |
|
LamG
|
738 |
877 |
7.27e-25 |
SMART |
|
LamG
|
925 |
1061 |
8.46e-35 |
SMART |
|
EGF
|
1086 |
1120 |
1.87e1 |
SMART |
|
LamG
|
1148 |
1275 |
3.29e-23 |
SMART |
|
low complexity region
|
1302 |
1333 |
N/A |
INTRINSIC |
|
low complexity region
|
1404 |
1419 |
N/A |
INTRINSIC |
|
4.1m
|
1422 |
1440 |
1.19e-6 |
SMART |
|
low complexity region
|
1459 |
1471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174337
AA Change: E249A
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133724
Gene: ENSMUSG00000024109
AA Change: E249A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
LamG
|
109 |
236 |
3.29e-23 |
SMART |
|
low complexity region
|
263 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
380 |
N/A |
INTRINSIC |
|
4.1m
|
383 |
401 |
1.19e-6 |
SMART |
|
low complexity region
|
420 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197104
AA Change: E52A
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000142621
Gene: ENSMUSG00000024109
AA Change: E52A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Laminin_G_2
|
1 |
69 |
3.2e-12 |
PFAM |
|
low complexity region
|
96 |
127 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (104/106) |
| MGI Phenotype |
FUNCTION: This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are synaptic transmembrane receptors that bind endogenous ligands that include neuroligins, dystroglycan, and neurexophilins. Neurexin complexes are required for efficient neurotransmission and are involved in synaptogenesis. In vertebrates, alternate promoter usage results in multiple isoform classes, of which the alpha and beta classes are the best characterized. In humans, allelic variants in this gene are associated with Pitt-Hopkins-like syndrome-2, while deletions have been associated with autism and schizophrenia. Mouse knockouts display decreased spontaneous and evoked vesicle release resulting in impaired synaptic transmission. In addition, knockout mice show altered social approach, reduced social investigation, reduced locomotor activity, and in males, increased aggression. Alternative splicing and promoter usage result in multiple transcript variants. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced Ca(2+)-dependent binding of alpha-latrotoxin to brain membranes. Isolated synaptosomes display only a small reduction in alpha-latrotoxin -triggered glutamate release in the absence of Ca(2+) but show a major decrease in the presence of Ca(2+). [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
C |
T |
6: 91,934,610 (GRCm38) |
T613I |
probably benign |
Het |
| 9130019O22Rik |
T |
A |
7: 127,385,283 (GRCm38) |
S216C |
probably benign |
Het |
| Ajuba |
T |
C |
14: 54,576,402 (GRCm38) |
E288G |
probably damaging |
Het |
| Ankrd12 |
C |
T |
17: 65,985,360 (GRCm38) |
R1026K |
probably benign |
Het |
| Apol7b |
T |
C |
15: 77,423,474 (GRCm38) |
T274A |
probably benign |
Het |
| Arid4a |
A |
T |
12: 71,063,142 (GRCm38) |
R86* |
probably null |
Het |
| Asnsd1 |
C |
T |
1: 53,348,258 (GRCm38) |
G70D |
probably damaging |
Het |
| Atg4c |
T |
A |
4: 99,228,560 (GRCm38) |
V313D |
possibly damaging |
Het |
| Atp13a5 |
A |
C |
16: 29,266,963 (GRCm38) |
C885G |
probably damaging |
Het |
| Bpifb9a |
A |
T |
2: 154,262,263 (GRCm38) |
I209F |
possibly damaging |
Het |
| Bsn |
T |
C |
9: 108,113,543 (GRCm38) |
D1670G |
probably damaging |
Het |
| Cct8 |
T |
A |
16: 87,491,322 (GRCm38) |
I121F |
probably benign |
Het |
| Cd209a |
T |
G |
8: 3,744,151 (GRCm38) |
D217A |
probably damaging |
Het |
| Cdk19 |
C |
T |
10: 40,477,958 (GRCm38) |
S456L |
possibly damaging |
Het |
| Chd9 |
C |
T |
8: 90,994,580 (GRCm38) |
H999Y |
unknown |
Het |
| Col5a1 |
G |
A |
2: 27,951,383 (GRCm38) |
V339M |
unknown |
Het |
| Cr2 |
G |
A |
1: 195,169,340 (GRCm38) |
R115* |
probably null |
Het |
| Cyb561 |
A |
T |
11: 105,937,644 (GRCm38) |
F62I |
probably damaging |
Het |
| Cyp2c38 |
A |
T |
19: 39,404,743 (GRCm38) |
N293K |
possibly damaging |
Het |
| Cyp2c69 |
A |
T |
19: 39,859,898 (GRCm38) |
D293E |
probably damaging |
Het |
| Dcbld2 |
T |
A |
16: 58,424,569 (GRCm38) |
C69S |
possibly damaging |
Het |
| Dcdc2a |
T |
C |
13: 25,119,373 (GRCm38) |
S296P |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 49,893,957 (GRCm38) |
I2044K |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,346,952 (GRCm38) |
D2527G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,149,430 (GRCm38) |
T1305A |
probably benign |
Het |
| Dnajc9 |
A |
G |
14: 20,388,644 (GRCm38) |
V47A |
probably benign |
Het |
| Dnmt3b |
A |
G |
2: 153,676,699 (GRCm38) |
Y594C |
probably damaging |
Het |
| Dph7 |
A |
G |
2: 24,965,630 (GRCm38) |
D147G |
probably damaging |
Het |
| Drap1 |
T |
C |
19: 5,423,352 (GRCm38) |
H164R |
possibly damaging |
Het |
| Dsg3 |
T |
A |
18: 20,527,780 (GRCm38) |
V392E |
possibly damaging |
Het |
| Dxo |
A |
G |
17: 34,837,640 (GRCm38) |
D81G |
probably benign |
Het |
| E230025N22Rik |
G |
T |
18: 36,695,592 (GRCm38) |
T11K |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,518,932 (GRCm38) |
V533A |
possibly damaging |
Het |
| Etv3 |
T |
A |
3: 87,536,031 (GRCm38) |
C307* |
probably null |
Het |
| Fam114a1 |
T |
A |
5: 65,030,059 (GRCm38) |
|
probably null |
Het |
| Fam208b |
A |
G |
13: 3,573,621 (GRCm38) |
Y2110H |
probably damaging |
Het |
| Fam3c |
T |
A |
6: 22,326,405 (GRCm38) |
|
probably benign |
Het |
| Fbn1 |
G |
T |
2: 125,397,852 (GRCm38) |
T305K |
probably benign |
Het |
| Ggt1 |
A |
T |
10: 75,585,594 (GRCm38) |
I484F |
probably damaging |
Het |
| Gm10639 |
A |
T |
9: 78,304,469 (GRCm38) |
D171V |
possibly damaging |
Het |
| Gpatch1 |
T |
C |
7: 35,293,812 (GRCm38) |
D536G |
probably damaging |
Het |
| Gpx4 |
T |
C |
10: 80,055,041 (GRCm38) |
I189T |
probably damaging |
Het |
| Gsr |
T |
A |
8: 33,669,165 (GRCm38) |
C85S |
probably damaging |
Het |
| Havcr1 |
T |
A |
11: 46,770,542 (GRCm38) |
|
probably null |
Het |
| Heatr4 |
T |
C |
12: 83,979,644 (GRCm38) |
T280A |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,423,911 (GRCm38) |
E3532D |
probably benign |
Het |
| Hnrnpc |
T |
C |
14: 52,075,099 (GRCm38) |
N308S |
possibly damaging |
Het |
| Ighv8-9 |
A |
G |
12: 115,468,738 (GRCm38) |
V13A |
probably benign |
Het |
| Itgb2l |
A |
T |
16: 96,426,239 (GRCm38) |
F535I |
probably benign |
Het |
| Kdm5a |
T |
G |
6: 120,427,842 (GRCm38) |
D1348E |
probably damaging |
Het |
| Kndc1 |
CT |
C |
7: 139,923,775 (GRCm38) |
|
probably null |
Het |
| Ky |
A |
G |
9: 102,542,329 (GRCm38) |
I512V |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,243,275 (GRCm38) |
F866Y |
possibly damaging |
Het |
| Lbx1 |
C |
A |
19: 45,235,248 (GRCm38) |
|
probably benign |
Het |
| Magel2 |
A |
G |
7: 62,378,910 (GRCm38) |
T521A |
possibly damaging |
Het |
| Mgam |
A |
T |
6: 40,746,433 (GRCm38) |
I491L |
probably benign |
Het |
| Mitd1 |
T |
C |
1: 37,890,192 (GRCm38) |
E40G |
probably damaging |
Het |
| Mpzl3 |
A |
G |
9: 45,070,687 (GRCm38) |
T218A |
probably benign |
Het |
| Mrpl42 |
A |
G |
10: 95,480,965 (GRCm38) |
S77P |
probably benign |
Het |
| Mup5 |
C |
T |
4: 61,834,674 (GRCm38) |
W37* |
probably null |
Het |
| Myh14 |
T |
C |
7: 44,632,426 (GRCm38) |
I803V |
probably benign |
Het |
| Ncor2 |
T |
A |
5: 125,030,089 (GRCm38) |
T744S |
|
Het |
| Ndufv3 |
A |
G |
17: 31,527,622 (GRCm38) |
D162G |
probably damaging |
Het |
| Nostrin |
A |
G |
2: 69,175,806 (GRCm38) |
E278G |
probably damaging |
Het |
| Olfr1205 |
A |
G |
2: 88,831,128 (GRCm38) |
N4D |
possibly damaging |
Het |
| Olfr623 |
C |
A |
7: 103,660,881 (GRCm38) |
R123L |
probably damaging |
Het |
| Olfr648 |
T |
A |
7: 104,179,748 (GRCm38) |
Y220F |
probably damaging |
Het |
| Olfr972 |
A |
T |
9: 39,873,455 (GRCm38) |
Y60F |
possibly damaging |
Het |
| Patj |
T |
A |
4: 98,424,500 (GRCm38) |
|
probably null |
Het |
| Pcm1 |
T |
G |
8: 41,267,344 (GRCm38) |
I314R |
possibly damaging |
Het |
| Pcsk6 |
A |
G |
7: 66,033,898 (GRCm38) |
T754A |
probably benign |
Het |
| Pde2a |
A |
T |
7: 101,502,834 (GRCm38) |
N326I |
probably benign |
Het |
| Plekhg4 |
T |
C |
8: 105,378,684 (GRCm38) |
S594P |
possibly damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,937,906 (GRCm38) |
D135G |
probably damaging |
Het |
| Plin4 |
A |
T |
17: 56,106,776 (GRCm38) |
M283K |
probably benign |
Het |
| Ppfia3 |
T |
C |
7: 45,340,748 (GRCm38) |
|
probably null |
Het |
| Prdm9 |
T |
C |
17: 15,555,652 (GRCm38) |
N179S |
probably benign |
Het |
| Prrt3 |
T |
C |
6: 113,494,488 (GRCm38) |
S908G |
probably damaging |
Het |
| Psg22 |
C |
A |
7: 18,722,735 (GRCm38) |
S181Y |
possibly damaging |
Het |
| Rcor3 |
C |
A |
1: 192,137,876 (GRCm38) |
G8V |
probably damaging |
Het |
| Rp1l1 |
T |
A |
14: 64,031,574 (GRCm38) |
C1536* |
probably null |
Het |
| Rpp25l |
T |
C |
4: 41,712,529 (GRCm38) |
H82R |
probably damaging |
Het |
| Rps3a1 |
T |
A |
3: 86,139,089 (GRCm38) |
M172L |
probably benign |
Het |
| Rtbdn |
T |
C |
8: 84,952,927 (GRCm38) |
L110P |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 29,078,585 (GRCm38) |
Q2169L |
probably damaging |
Het |
| Scn4a |
A |
T |
11: 106,320,473 (GRCm38) |
C1573S |
possibly damaging |
Het |
| Sec16b |
A |
T |
1: 157,531,395 (GRCm38) |
|
probably null |
Het |
| Serpina1a |
A |
T |
12: 103,853,837 (GRCm38) |
D383E |
possibly damaging |
Het |
| Sh3gl3 |
T |
C |
7: 82,285,077 (GRCm38) |
M262T |
probably benign |
Het |
| Sos2 |
G |
A |
12: 69,590,880 (GRCm38) |
T1052M |
probably damaging |
Het |
| Spag16 |
G |
A |
1: 69,996,841 (GRCm38) |
V343I |
probably benign |
Het |
| Spocd1 |
T |
G |
4: 129,930,164 (GRCm38) |
D251E |
|
Het |
| Stc2 |
G |
T |
11: 31,367,798 (GRCm38) |
N74K |
probably damaging |
Het |
| Thbs3 |
C |
T |
3: 89,219,052 (GRCm38) |
Q227* |
probably null |
Het |
| Tmem92 |
A |
C |
11: 94,778,990 (GRCm38) |
I105R |
probably benign |
Het |
| Tmod1 |
T |
A |
4: 46,083,632 (GRCm38) |
N20K |
probably benign |
Het |
| Tns1 |
T |
C |
1: 73,953,479 (GRCm38) |
D53G |
probably damaging |
Het |
| Tspan33 |
T |
A |
6: 29,717,338 (GRCm38) |
L246Q |
probably damaging |
Het |
| Ttc16 |
A |
G |
2: 32,768,968 (GRCm38) |
L392P |
probably damaging |
Het |
| Uggt1 |
T |
A |
1: 36,185,838 (GRCm38) |
T572S |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,860,397 (GRCm38) |
T70S |
probably damaging |
Het |
| Usp31 |
C |
T |
7: 121,674,963 (GRCm38) |
R370H |
probably damaging |
Het |
| Wdr83 |
C |
T |
8: 85,079,834 (GRCm38) |
V112M |
probably damaging |
Het |
| Zbtb25 |
T |
A |
12: 76,369,592 (GRCm38) |
|
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,849,340 (GRCm38) |
N638K |
possibly damaging |
Het |
| Zfp820 |
T |
C |
17: 21,819,013 (GRCm38) |
T445A |
probably benign |
Het |
|
| Other mutations in Nrxn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Nrxn1
|
APN |
17 |
90,059,474 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01644:Nrxn1
|
APN |
17 |
90,620,873 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01820:Nrxn1
|
APN |
17 |
90,643,103 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01902:Nrxn1
|
APN |
17 |
91,088,491 (GRCm38) |
splice site |
probably null |
|
|
IGL02079:Nrxn1
|
APN |
17 |
90,643,083 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02089:Nrxn1
|
APN |
17 |
91,088,401 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02133:Nrxn1
|
APN |
17 |
90,643,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02179:Nrxn1
|
APN |
17 |
90,630,083 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02199:Nrxn1
|
APN |
17 |
90,037,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02262:Nrxn1
|
APN |
17 |
90,704,208 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02941:Nrxn1
|
APN |
17 |
90,208,383 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4449001:Nrxn1
|
UTSW |
17 |
90,597,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4791001:Nrxn1
|
UTSW |
17 |
90,455,503 (GRCm38) |
intron |
probably benign |
|
|
R0123:Nrxn1
|
UTSW |
17 |
90,995,487 (GRCm38) |
splice site |
probably null |
|
|
R0212:Nrxn1
|
UTSW |
17 |
90,362,758 (GRCm38) |
unclassified |
probably benign |
|
|
R0277:Nrxn1
|
UTSW |
17 |
90,700,742 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0323:Nrxn1
|
UTSW |
17 |
90,700,742 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0384:Nrxn1
|
UTSW |
17 |
90,208,347 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0395:Nrxn1
|
UTSW |
17 |
91,088,314 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0606:Nrxn1
|
UTSW |
17 |
90,565,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0616:Nrxn1
|
UTSW |
17 |
90,362,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0624:Nrxn1
|
UTSW |
17 |
91,088,689 (GRCm38) |
missense |
unknown |
|
|
R0633:Nrxn1
|
UTSW |
17 |
90,704,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0927:Nrxn1
|
UTSW |
17 |
90,037,330 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1035:Nrxn1
|
UTSW |
17 |
90,163,874 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1221:Nrxn1
|
UTSW |
17 |
90,643,294 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1403:Nrxn1
|
UTSW |
17 |
90,643,053 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1403:Nrxn1
|
UTSW |
17 |
90,643,053 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1691:Nrxn1
|
UTSW |
17 |
90,162,289 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1703:Nrxn1
|
UTSW |
17 |
90,208,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1709:Nrxn1
|
UTSW |
17 |
90,037,187 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1721:Nrxn1
|
UTSW |
17 |
90,162,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1792:Nrxn1
|
UTSW |
17 |
90,588,824 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1980:Nrxn1
|
UTSW |
17 |
91,088,318 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2116:Nrxn1
|
UTSW |
17 |
90,704,277 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2117:Nrxn1
|
UTSW |
17 |
90,704,277 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2162:Nrxn1
|
UTSW |
17 |
90,162,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3119:Nrxn1
|
UTSW |
17 |
90,597,519 (GRCm38) |
nonsense |
probably null |
|
|
R3409:Nrxn1
|
UTSW |
17 |
90,208,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3683:Nrxn1
|
UTSW |
17 |
90,623,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3885:Nrxn1
|
UTSW |
17 |
90,623,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3939:Nrxn1
|
UTSW |
17 |
90,208,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4475:Nrxn1
|
UTSW |
17 |
90,701,982 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4640:Nrxn1
|
UTSW |
17 |
90,560,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4678:Nrxn1
|
UTSW |
17 |
90,623,422 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4690:Nrxn1
|
UTSW |
17 |
90,037,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4790:Nrxn1
|
UTSW |
17 |
90,455,049 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4877:Nrxn1
|
UTSW |
17 |
91,088,177 (GRCm38) |
missense |
probably benign |
0.33 |
|
R4989:Nrxn1
|
UTSW |
17 |
90,620,846 (GRCm38) |
intron |
probably benign |
|
|
R5204:Nrxn1
|
UTSW |
17 |
90,162,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5205:Nrxn1
|
UTSW |
17 |
90,163,874 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5239:Nrxn1
|
UTSW |
17 |
90,704,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5250:Nrxn1
|
UTSW |
17 |
90,535,441 (GRCm38) |
intron |
probably benign |
|
|
R5473:Nrxn1
|
UTSW |
17 |
90,590,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5629:Nrxn1
|
UTSW |
17 |
90,590,032 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5743:Nrxn1
|
UTSW |
17 |
90,643,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5910:Nrxn1
|
UTSW |
17 |
90,704,318 (GRCm38) |
nonsense |
probably null |
|
|
R5961:Nrxn1
|
UTSW |
17 |
90,454,943 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5979:Nrxn1
|
UTSW |
17 |
91,088,203 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R5992:Nrxn1
|
UTSW |
17 |
90,623,507 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6024:Nrxn1
|
UTSW |
17 |
90,590,098 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6031:Nrxn1
|
UTSW |
17 |
90,588,790 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6031:Nrxn1
|
UTSW |
17 |
90,588,790 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6185:Nrxn1
|
UTSW |
17 |
90,037,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6220:Nrxn1
|
UTSW |
17 |
91,088,476 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6306:Nrxn1
|
UTSW |
17 |
90,565,446 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6621:Nrxn1
|
UTSW |
17 |
90,162,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6669:Nrxn1
|
UTSW |
17 |
90,059,563 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6770:Nrxn1
|
UTSW |
17 |
90,037,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6798:Nrxn1
|
UTSW |
17 |
90,629,950 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6923:Nrxn1
|
UTSW |
17 |
91,088,233 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7140:Nrxn1
|
UTSW |
17 |
91,088,764 (GRCm38) |
start gained |
probably benign |
|
|
R7374:Nrxn1
|
UTSW |
17 |
90,588,669 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7564:Nrxn1
|
UTSW |
17 |
90,362,906 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R7800:Nrxn1
|
UTSW |
17 |
91,089,207 (GRCm38) |
unclassified |
probably benign |
|
|
R7828:Nrxn1
|
UTSW |
17 |
90,059,551 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7974:Nrxn1
|
UTSW |
17 |
90,700,779 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8001:Nrxn1
|
UTSW |
17 |
91,088,536 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R8189:Nrxn1
|
UTSW |
17 |
90,704,209 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8258:Nrxn1
|
UTSW |
17 |
90,163,821 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8259:Nrxn1
|
UTSW |
17 |
90,163,821 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8298:Nrxn1
|
UTSW |
17 |
90,704,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8801:Nrxn1
|
UTSW |
17 |
90,701,965 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R8814:Nrxn1
|
UTSW |
17 |
90,630,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8873:Nrxn1
|
UTSW |
17 |
90,565,393 (GRCm38) |
nonsense |
probably null |
|
|
R8954:Nrxn1
|
UTSW |
17 |
90,590,187 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9086:Nrxn1
|
UTSW |
17 |
90,162,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9110:Nrxn1
|
UTSW |
17 |
90,561,805 (GRCm38) |
nonsense |
probably null |
|
|
R9498:Nrxn1
|
UTSW |
17 |
90,589,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9499:Nrxn1
|
UTSW |
17 |
90,630,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9552:Nrxn1
|
UTSW |
17 |
90,630,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9780:Nrxn1
|
UTSW |
17 |
90,623,614 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
RF005:Nrxn1
|
UTSW |
17 |
90,362,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF024:Nrxn1
|
UTSW |
17 |
90,362,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0021:Nrxn1
|
UTSW |
17 |
90,590,212 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0063:Nrxn1
|
UTSW |
17 |
90,362,831 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
Z1088:Nrxn1
|
UTSW |
17 |
90,059,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACATCTCAGACTGCATG -3'
(R):5'- TTTCATGGACACCTCATTTCTAAGC -3'
Sequencing Primer
(F):5'- ATGGCAGTGGCTGTCGACTC -3'
(R):5'- TGAGCCAAATGCCTCTCTTATAG -3'
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| Posted On |
2019-10-17 |
Incidental Mutation