Incidental Mutation 'R6351:Agrn'
| ID |
514230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agrn
|
| Ensembl Gene |
ENSMUSG00000041936 |
| Gene Name |
agrin |
| Synonyms |
Agrin, NMF380, nmf380 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R6351 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156249747-156281945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156263891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 124
(N124S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071248]
[ENSMUST00000105574]
[ENSMUST00000105575]
[ENSMUST00000180572]
|
| AlphaFold |
A2ASQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071248
AA Change: N124S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000071229
Gene: ENSMUSG00000041936
AA Change: N124S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
FOLN
|
66 |
91 |
8.25e-6 |
SMART |
|
KAZAL
|
91 |
137 |
1.22e-17 |
SMART |
|
FOLN
|
142 |
166 |
7.58e-5 |
SMART |
|
EGF_like
|
142 |
181 |
7.38e1 |
SMART |
|
KAZAL
|
166 |
212 |
1.51e-13 |
SMART |
|
KAZAL
|
241 |
284 |
1.8e-6 |
SMART |
|
KAZAL
|
310 |
356 |
1.55e-10 |
SMART |
|
FOLN
|
362 |
384 |
8.25e-6 |
SMART |
|
KAZAL
|
384 |
429 |
1.14e-17 |
SMART |
|
KAZAL
|
449 |
494 |
6.43e-17 |
SMART |
|
FOLN
|
496 |
519 |
2.94e-2 |
SMART |
|
KAZAL
|
507 |
559 |
8.96e-16 |
SMART |
|
low complexity region
|
565 |
572 |
N/A |
INTRINSIC |
|
KAZAL
|
599 |
645 |
1.12e-16 |
SMART |
|
EGF_Lam
|
688 |
739 |
3.29e-15 |
SMART |
|
EGF_Lam
|
742 |
786 |
6.7e-7 |
SMART |
|
FOLN
|
795 |
817 |
1.94e-2 |
SMART |
|
KAZAL
|
817 |
864 |
3.9e-16 |
SMART |
|
low complexity region
|
889 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
978 |
N/A |
INTRINSIC |
|
SEA
|
1014 |
1139 |
5.57e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105574
AA Change: N124S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000101199
Gene: ENSMUSG00000041936
AA Change: N124S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
FOLN
|
66 |
91 |
8.25e-6 |
SMART |
|
KAZAL
|
91 |
137 |
1.22e-17 |
SMART |
|
FOLN
|
142 |
166 |
7.58e-5 |
SMART |
|
EGF_like
|
142 |
181 |
7.38e1 |
SMART |
|
KAZAL
|
166 |
212 |
1.51e-13 |
SMART |
|
KAZAL
|
241 |
284 |
1.8e-6 |
SMART |
|
KAZAL
|
310 |
356 |
1.55e-10 |
SMART |
|
FOLN
|
362 |
384 |
8.25e-6 |
SMART |
|
KAZAL
|
384 |
429 |
1.14e-17 |
SMART |
|
KAZAL
|
449 |
494 |
6.43e-17 |
SMART |
|
FOLN
|
496 |
519 |
2.94e-2 |
SMART |
|
KAZAL
|
507 |
559 |
8.96e-16 |
SMART |
|
low complexity region
|
565 |
572 |
N/A |
INTRINSIC |
|
KAZAL
|
599 |
645 |
1.12e-16 |
SMART |
|
EGF_Lam
|
688 |
739 |
3.29e-15 |
SMART |
|
EGF_Lam
|
742 |
786 |
6.7e-7 |
SMART |
|
FOLN
|
795 |
817 |
1.94e-2 |
SMART |
|
KAZAL
|
817 |
864 |
3.9e-16 |
SMART |
|
low complexity region
|
889 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
978 |
N/A |
INTRINSIC |
|
SEA
|
1014 |
1136 |
2.26e-35 |
SMART |
|
low complexity region
|
1142 |
1169 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1198 |
N/A |
INTRINSIC |
|
EGF
|
1214 |
1249 |
1.49e-4 |
SMART |
|
LamG
|
1274 |
1410 |
4e-45 |
SMART |
|
EGF
|
1434 |
1468 |
2.23e-3 |
SMART |
|
EGF
|
1473 |
1507 |
7.13e-2 |
SMART |
|
LamG
|
1542 |
1678 |
6.51e-36 |
SMART |
|
EGF
|
1699 |
1735 |
4.35e-6 |
SMART |
|
LamG
|
1771 |
1907 |
5.01e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105575
AA Change: N124S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101200
Gene: ENSMUSG00000041936
AA Change: N124S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
FOLN
|
66 |
91 |
8.25e-6 |
SMART |
|
KAZAL
|
91 |
137 |
1.22e-17 |
SMART |
|
FOLN
|
142 |
166 |
7.58e-5 |
SMART |
|
EGF_like
|
142 |
181 |
7.38e1 |
SMART |
|
KAZAL
|
166 |
212 |
1.51e-13 |
SMART |
|
KAZAL
|
241 |
284 |
1.8e-6 |
SMART |
|
KAZAL
|
310 |
356 |
1.55e-10 |
SMART |
|
FOLN
|
362 |
384 |
8.25e-6 |
SMART |
|
KAZAL
|
384 |
429 |
1.14e-17 |
SMART |
|
KAZAL
|
449 |
494 |
6.43e-17 |
SMART |
|
FOLN
|
496 |
519 |
2.94e-2 |
SMART |
|
KAZAL
|
507 |
559 |
8.96e-16 |
SMART |
|
low complexity region
|
565 |
572 |
N/A |
INTRINSIC |
|
KAZAL
|
599 |
645 |
1.12e-16 |
SMART |
|
EGF_Lam
|
688 |
739 |
3.29e-15 |
SMART |
|
EGF_Lam
|
742 |
786 |
6.7e-7 |
SMART |
|
FOLN
|
795 |
817 |
1.94e-2 |
SMART |
|
KAZAL
|
817 |
864 |
3.9e-16 |
SMART |
|
low complexity region
|
889 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
978 |
N/A |
INTRINSIC |
|
SEA
|
1014 |
1136 |
2.26e-35 |
SMART |
|
low complexity region
|
1142 |
1169 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1198 |
N/A |
INTRINSIC |
|
EGF
|
1214 |
1249 |
1.49e-4 |
SMART |
|
LamG
|
1274 |
1410 |
4e-45 |
SMART |
|
EGF
|
1434 |
1468 |
2.23e-3 |
SMART |
|
EGF
|
1473 |
1507 |
7.13e-2 |
SMART |
|
LamG
|
1542 |
1682 |
9.2e-36 |
SMART |
|
EGF
|
1703 |
1739 |
4.35e-6 |
SMART |
|
LamG
|
1794 |
1930 |
5.01e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180572
AA Change: N231S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
AA Change: N231S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:NtA
|
32 |
159 |
5.1e-91 |
PFAM |
|
FOLN
|
173 |
198 |
8.25e-6 |
SMART |
|
KAZAL
|
198 |
244 |
1.22e-17 |
SMART |
|
FOLN
|
249 |
273 |
7.58e-5 |
SMART |
|
EGF_like
|
249 |
288 |
7.38e1 |
SMART |
|
KAZAL
|
273 |
319 |
1.51e-13 |
SMART |
|
KAZAL
|
348 |
391 |
1.8e-6 |
SMART |
|
KAZAL
|
417 |
463 |
1.55e-10 |
SMART |
|
FOLN
|
469 |
491 |
8.25e-6 |
SMART |
|
KAZAL
|
491 |
536 |
1.14e-17 |
SMART |
|
KAZAL
|
556 |
601 |
6.43e-17 |
SMART |
|
FOLN
|
603 |
626 |
2.94e-2 |
SMART |
|
KAZAL
|
614 |
666 |
8.96e-16 |
SMART |
|
low complexity region
|
672 |
679 |
N/A |
INTRINSIC |
|
KAZAL
|
706 |
752 |
1.12e-16 |
SMART |
|
EGF_Lam
|
795 |
846 |
3.29e-15 |
SMART |
|
EGF_Lam
|
849 |
893 |
6.7e-7 |
SMART |
|
FOLN
|
902 |
924 |
1.94e-2 |
SMART |
|
KAZAL
|
924 |
971 |
3.9e-16 |
SMART |
|
low complexity region
|
996 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1056 |
1085 |
N/A |
INTRINSIC |
|
SEA
|
1121 |
1243 |
2.26e-35 |
SMART |
|
low complexity region
|
1249 |
1276 |
N/A |
INTRINSIC |
|
low complexity region
|
1290 |
1305 |
N/A |
INTRINSIC |
|
EGF
|
1321 |
1356 |
1.49e-4 |
SMART |
|
LamG
|
1381 |
1517 |
4e-45 |
SMART |
|
EGF
|
1541 |
1575 |
2.23e-3 |
SMART |
|
EGF
|
1580 |
1614 |
7.13e-2 |
SMART |
|
LamG
|
1649 |
1785 |
6.51e-36 |
SMART |
|
EGF
|
1806 |
1842 |
4.35e-6 |
SMART |
|
LamG
|
1878 |
2014 |
5.01e-37 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181062
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
99% (95/96) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
PHENOTYPE: Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Targeted, knock-out(4) Targeted, other(1) Gene trapped(7) |
| Other mutations in this stock |
Total: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1a |
C |
A |
9: 119,170,630 (GRCm39) |
S17* |
probably null |
Het |
| Adamts16 |
T |
A |
13: 70,984,322 (GRCm39) |
S114C |
probably damaging |
Het |
| Agpat5 |
T |
C |
8: 18,896,724 (GRCm39) |
V50A |
probably benign |
Het |
| Ak8 |
T |
C |
2: 28,625,638 (GRCm39) |
I227T |
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,188,808 (GRCm39) |
E2074G |
probably damaging |
Het |
| Apc |
T |
A |
18: 34,445,265 (GRCm39) |
S702R |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,596,769 (GRCm39) |
I1233T |
probably damaging |
Het |
| Asphd2 |
A |
T |
5: 112,533,698 (GRCm39) |
F318I |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 36,962,377 (GRCm39) |
A493T |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,211,380 (GRCm39) |
T397A |
probably benign |
Het |
| Bpifb4 |
C |
T |
2: 153,799,054 (GRCm39) |
T528I |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,777,323 (GRCm39) |
E590G |
probably damaging |
Het |
| Ccdc149 |
A |
G |
5: 52,542,477 (GRCm39) |
S372P |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,874,589 (GRCm39) |
H887R |
probably benign |
Het |
| Clcn6 |
C |
T |
4: 148,101,957 (GRCm39) |
V376I |
probably benign |
Het |
| Cntln |
T |
G |
4: 85,033,591 (GRCm39) |
C1305W |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,799,928 (GRCm39) |
D1564G |
probably benign |
Het |
| Cux1 |
A |
T |
5: 136,338,646 (GRCm39) |
S582T |
probably damaging |
Het |
| Cwh43 |
G |
A |
5: 73,569,248 (GRCm39) |
A97T |
possibly damaging |
Het |
| Dsc1 |
A |
T |
18: 20,219,826 (GRCm39) |
F781L |
probably damaging |
Het |
| Dsc3 |
G |
T |
18: 20,099,348 (GRCm39) |
H723N |
probably benign |
Het |
| Ear10 |
A |
T |
14: 44,160,512 (GRCm39) |
V105D |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,077,231 (GRCm39) |
V659A |
possibly damaging |
Het |
| Eogt |
A |
T |
6: 97,097,155 (GRCm39) |
F316I |
probably damaging |
Het |
| Etaa1 |
T |
C |
11: 17,897,188 (GRCm39) |
N310D |
possibly damaging |
Het |
| Exoc3l2 |
G |
A |
7: 19,203,633 (GRCm39) |
R75Q |
possibly damaging |
Het |
| Fam186a |
A |
C |
15: 99,839,623 (GRCm39) |
L2207R |
probably damaging |
Het |
| Fam187b |
T |
C |
7: 30,677,024 (GRCm39) |
Y178H |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,486,532 (GRCm39) |
Q3362L |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,849,694 (GRCm39) |
S3903T |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,823,028 (GRCm39) |
V6254I |
possibly damaging |
Het |
| Gabra5 |
T |
C |
7: 57,063,528 (GRCm39) |
T299A |
probably damaging |
Het |
| Gbp11 |
T |
C |
5: 105,475,464 (GRCm39) |
T295A |
probably benign |
Het |
| Glcci1 |
C |
T |
6: 8,573,203 (GRCm39) |
Q44* |
probably null |
Het |
| Gpc5 |
A |
T |
14: 115,636,612 (GRCm39) |
T432S |
probably benign |
Het |
| Grhl1 |
G |
A |
12: 24,634,857 (GRCm39) |
E228K |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,708 (GRCm39) |
|
probably null |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ints9 |
A |
G |
14: 65,230,456 (GRCm39) |
I128V |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,302,850 (GRCm39) |
N130I |
probably damaging |
Het |
| Krba1 |
T |
C |
6: 48,391,062 (GRCm39) |
V717A |
probably benign |
Het |
| Lrp12 |
T |
A |
15: 39,741,584 (GRCm39) |
D377V |
probably damaging |
Het |
| Magi1 |
G |
T |
6: 93,920,210 (GRCm39) |
D135E |
possibly damaging |
Het |
| Map10 |
T |
A |
8: 126,397,984 (GRCm39) |
L459Q |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,980,873 (GRCm39) |
D238G |
possibly damaging |
Het |
| Ms4a19 |
C |
T |
19: 11,119,765 (GRCm39) |
G14D |
probably damaging |
Het |
| Mylk |
G |
T |
16: 34,742,341 (GRCm39) |
R951L |
probably benign |
Het |
| Nacad |
T |
A |
11: 6,549,235 (GRCm39) |
D1272V |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,550,165 (GRCm39) |
K1009* |
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,264,124 (GRCm39) |
D786G |
probably benign |
Het |
| Oas2 |
G |
A |
5: 120,886,603 (GRCm39) |
R188C |
probably benign |
Het |
| Odf2l |
A |
G |
3: 144,841,479 (GRCm39) |
I300V |
probably benign |
Het |
| Or1j10 |
T |
A |
2: 36,267,208 (GRCm39) |
V140D |
possibly damaging |
Het |
| Or51b17 |
A |
T |
7: 103,542,342 (GRCm39) |
L200* |
probably null |
Het |
| Or51v8 |
A |
G |
7: 103,320,163 (GRCm39) |
I25T |
possibly damaging |
Het |
| Or5p60 |
A |
G |
7: 107,723,637 (GRCm39) |
S278P |
probably damaging |
Het |
| Or9i1 |
A |
G |
19: 13,839,186 (GRCm39) |
T10A |
probably benign |
Het |
| Pes1 |
T |
A |
11: 3,928,865 (GRCm39) |
D574E |
probably benign |
Het |
| Phf20 |
C |
T |
2: 156,136,130 (GRCm39) |
R650C |
possibly damaging |
Het |
| Pias4 |
G |
A |
10: 80,993,098 (GRCm39) |
T248I |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,282,175 (GRCm39) |
T2889A |
probably benign |
Het |
| Plcxd1 |
C |
A |
5: 110,250,033 (GRCm39) |
|
probably null |
Het |
| Plekha7 |
A |
G |
7: 115,776,133 (GRCm39) |
F194L |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,041,973 (GRCm39) |
N1642S |
possibly damaging |
Het |
| Pnpla7 |
A |
T |
2: 24,901,576 (GRCm39) |
D534V |
probably damaging |
Het |
| Ppp2r5c |
A |
T |
12: 110,521,313 (GRCm39) |
S279C |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,544,529 (GRCm39) |
T334S |
probably damaging |
Het |
| Rab39 |
T |
C |
9: 53,597,821 (GRCm39) |
D148G |
probably benign |
Het |
| Reep3 |
A |
T |
10: 66,870,432 (GRCm39) |
F121L |
probably benign |
Het |
| Reln |
G |
T |
5: 22,106,661 (GRCm39) |
C3236* |
probably null |
Het |
| Rrp8 |
C |
T |
7: 105,384,016 (GRCm39) |
C162Y |
probably damaging |
Het |
| Scrib |
C |
A |
15: 75,936,835 (GRCm39) |
Q399H |
possibly damaging |
Het |
| Sertad1 |
T |
A |
7: 27,189,224 (GRCm39) |
Y182N |
possibly damaging |
Het |
| Sfrp5 |
A |
G |
19: 42,190,263 (GRCm39) |
V63A |
possibly damaging |
Het |
| Shoc1 |
T |
C |
4: 59,069,317 (GRCm39) |
D703G |
probably benign |
Het |
| Slc46a1 |
T |
C |
11: 78,357,985 (GRCm39) |
M346T |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,005,209 (GRCm39) |
L886S |
probably damaging |
Het |
| Teddm1b |
A |
T |
1: 153,750,505 (GRCm39) |
I105F |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,319,828 (GRCm39) |
I46N |
possibly damaging |
Het |
| Tmod4 |
A |
G |
3: 95,035,164 (GRCm39) |
N223S |
probably damaging |
Het |
| Tnfrsf10b |
G |
C |
14: 70,010,850 (GRCm39) |
C85S |
probably damaging |
Het |
| Tox |
T |
C |
4: 6,697,439 (GRCm39) |
T455A |
probably benign |
Het |
| Tox |
T |
C |
4: 6,741,536 (GRCm39) |
Q148R |
probably benign |
Het |
| Trp53bp1 |
A |
C |
2: 121,100,426 (GRCm39) |
S109R |
probably damaging |
Het |
| Tshz2 |
A |
T |
2: 169,726,888 (GRCm39) |
T26S |
probably benign |
Het |
| Tubb4a |
T |
A |
17: 57,388,016 (GRCm39) |
N337Y |
probably damaging |
Het |
| Tubb6 |
T |
A |
18: 67,534,458 (GRCm39) |
V119E |
probably damaging |
Het |
| Unk |
C |
T |
11: 115,945,772 (GRCm39) |
T481I |
probably benign |
Het |
| Vmn2r112 |
C |
T |
17: 22,820,259 (GRCm39) |
T44I |
probably benign |
Het |
| Vstm5 |
G |
A |
9: 15,168,829 (GRCm39) |
G131D |
probably damaging |
Het |
| Wscd1 |
T |
C |
11: 71,650,709 (GRCm39) |
L12P |
probably damaging |
Het |
| Zfp369 |
T |
A |
13: 65,444,044 (GRCm39) |
S396T |
possibly damaging |
Het |
| Zfp932 |
T |
A |
5: 110,157,209 (GRCm39) |
C302* |
probably null |
Het |
| Zfp972 |
A |
T |
2: 177,548,728 (GRCm39) |
|
probably null |
Het |
| Zfyve21 |
C |
A |
12: 111,794,028 (GRCm39) |
A212E |
probably benign |
Het |
|
| Other mutations in Agrn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:Agrn
|
APN |
4 |
156,255,029 (GRCm39) |
splice site |
probably benign |
|
|
IGL00811:Agrn
|
APN |
4 |
156,253,231 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01066:Agrn
|
APN |
4 |
156,261,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01412:Agrn
|
APN |
4 |
156,255,491 (GRCm39) |
splice site |
probably benign |
|
|
IGL01414:Agrn
|
APN |
4 |
156,279,696 (GRCm39) |
splice site |
probably null |
|
|
IGL02075:Agrn
|
APN |
4 |
156,254,667 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02609:Agrn
|
APN |
4 |
156,259,680 (GRCm39) |
splice site |
probably benign |
|
|
IGL02669:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02671:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02672:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02674:Agrn
|
APN |
4 |
156,259,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL02724:Agrn
|
APN |
4 |
156,257,264 (GRCm39) |
nonsense |
probably null |
|
|
IGL02804:Agrn
|
APN |
4 |
156,258,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02986:Agrn
|
APN |
4 |
156,263,311 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03160:Agrn
|
APN |
4 |
156,254,820 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB004:Agrn
|
UTSW |
4 |
156,257,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB014:Agrn
|
UTSW |
4 |
156,257,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
F6893:Agrn
|
UTSW |
4 |
156,258,636 (GRCm39) |
missense |
probably benign |
|
|
R0092:Agrn
|
UTSW |
4 |
156,263,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Agrn
|
UTSW |
4 |
156,259,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Agrn
|
UTSW |
4 |
156,259,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Agrn
|
UTSW |
4 |
156,258,012 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0531:Agrn
|
UTSW |
4 |
156,263,891 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0536:Agrn
|
UTSW |
4 |
156,264,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0690:Agrn
|
UTSW |
4 |
156,258,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0750:Agrn
|
UTSW |
4 |
156,251,394 (GRCm39) |
nonsense |
probably null |
|
|
R1079:Agrn
|
UTSW |
4 |
156,261,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1199:Agrn
|
UTSW |
4 |
156,256,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1222:Agrn
|
UTSW |
4 |
156,261,842 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1534:Agrn
|
UTSW |
4 |
156,261,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Agrn
|
UTSW |
4 |
156,263,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1625:Agrn
|
UTSW |
4 |
156,257,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1698:Agrn
|
UTSW |
4 |
156,251,015 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1717:Agrn
|
UTSW |
4 |
156,250,976 (GRCm39) |
frame shift |
probably null |
|
|
R1718:Agrn
|
UTSW |
4 |
156,250,976 (GRCm39) |
frame shift |
probably null |
|
|
R1721:Agrn
|
UTSW |
4 |
156,259,630 (GRCm39) |
nonsense |
probably null |
|
|
R1765:Agrn
|
UTSW |
4 |
156,261,284 (GRCm39) |
nonsense |
probably null |
|
|
R1840:Agrn
|
UTSW |
4 |
156,251,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Agrn
|
UTSW |
4 |
156,250,976 (GRCm39) |
frame shift |
probably null |
|
|
R2105:Agrn
|
UTSW |
4 |
156,261,756 (GRCm39) |
nonsense |
probably null |
|
|
R2265:Agrn
|
UTSW |
4 |
156,263,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2266:Agrn
|
UTSW |
4 |
156,263,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2269:Agrn
|
UTSW |
4 |
156,263,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2382:Agrn
|
UTSW |
4 |
156,260,973 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2497:Agrn
|
UTSW |
4 |
156,258,268 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2509:Agrn
|
UTSW |
4 |
156,250,881 (GRCm39) |
splice site |
probably null |
|
|
R2510:Agrn
|
UTSW |
4 |
156,250,881 (GRCm39) |
splice site |
probably null |
|
|
R2511:Agrn
|
UTSW |
4 |
156,250,881 (GRCm39) |
splice site |
probably null |
|
|
R2994:Agrn
|
UTSW |
4 |
156,251,785 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3824:Agrn
|
UTSW |
4 |
156,253,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4736:Agrn
|
UTSW |
4 |
156,256,858 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4755:Agrn
|
UTSW |
4 |
156,257,979 (GRCm39) |
intron |
probably benign |
|
|
R4853:Agrn
|
UTSW |
4 |
156,270,007 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4878:Agrn
|
UTSW |
4 |
156,255,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Agrn
|
UTSW |
4 |
156,270,010 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5228:Agrn
|
UTSW |
4 |
156,251,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5236:Agrn
|
UTSW |
4 |
156,263,315 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5269:Agrn
|
UTSW |
4 |
156,253,447 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5282:Agrn
|
UTSW |
4 |
156,257,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5449:Agrn
|
UTSW |
4 |
156,251,737 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5560:Agrn
|
UTSW |
4 |
156,262,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5668:Agrn
|
UTSW |
4 |
156,251,770 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5725:Agrn
|
UTSW |
4 |
156,258,332 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5967:Agrn
|
UTSW |
4 |
156,259,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Agrn
|
UTSW |
4 |
156,258,066 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6338:Agrn
|
UTSW |
4 |
156,255,042 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6437:Agrn
|
UTSW |
4 |
156,261,235 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6490:Agrn
|
UTSW |
4 |
156,251,819 (GRCm39) |
nonsense |
probably null |
|
|
R6909:Agrn
|
UTSW |
4 |
156,261,464 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7110:Agrn
|
UTSW |
4 |
156,263,332 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7123:Agrn
|
UTSW |
4 |
156,257,297 (GRCm39) |
missense |
probably benign |
|
|
R7163:Agrn
|
UTSW |
4 |
156,262,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Agrn
|
UTSW |
4 |
156,256,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7251:Agrn
|
UTSW |
4 |
156,259,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Agrn
|
UTSW |
4 |
156,263,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7335:Agrn
|
UTSW |
4 |
156,260,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7336:Agrn
|
UTSW |
4 |
156,259,371 (GRCm39) |
nonsense |
probably null |
|
|
R7406:Agrn
|
UTSW |
4 |
156,256,758 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7460:Agrn
|
UTSW |
4 |
156,258,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7531:Agrn
|
UTSW |
4 |
156,254,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7585:Agrn
|
UTSW |
4 |
156,255,131 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7646:Agrn
|
UTSW |
4 |
156,279,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7652:Agrn
|
UTSW |
4 |
156,253,675 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7714:Agrn
|
UTSW |
4 |
156,279,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Agrn
|
UTSW |
4 |
156,260,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Agrn
|
UTSW |
4 |
156,253,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7927:Agrn
|
UTSW |
4 |
156,257,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8039:Agrn
|
UTSW |
4 |
156,253,468 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8056:Agrn
|
UTSW |
4 |
156,254,868 (GRCm39) |
missense |
probably benign |
|
|
R8061:Agrn
|
UTSW |
4 |
156,263,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8158:Agrn
|
UTSW |
4 |
156,258,346 (GRCm39) |
missense |
probably benign |
|
|
R8159:Agrn
|
UTSW |
4 |
156,256,825 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8325:Agrn
|
UTSW |
4 |
156,258,119 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8338:Agrn
|
UTSW |
4 |
156,253,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8739:Agrn
|
UTSW |
4 |
156,257,045 (GRCm39) |
missense |
probably benign |
|
|
R8956:Agrn
|
UTSW |
4 |
156,250,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9094:Agrn
|
UTSW |
4 |
156,253,264 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9112:Agrn
|
UTSW |
4 |
156,261,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9384:Agrn
|
UTSW |
4 |
156,257,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9472:Agrn
|
UTSW |
4 |
156,254,841 (GRCm39) |
missense |
|
|
|
R9619:Agrn
|
UTSW |
4 |
156,258,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9629:Agrn
|
UTSW |
4 |
156,257,094 (GRCm39) |
nonsense |
probably null |
|
|
R9732:Agrn
|
UTSW |
4 |
156,258,446 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9749:Agrn
|
UTSW |
4 |
156,258,114 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9757:Agrn
|
UTSW |
4 |
156,261,235 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9792:Agrn
|
UTSW |
4 |
156,261,129 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9793:Agrn
|
UTSW |
4 |
156,261,129 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1177:Agrn
|
UTSW |
4 |
156,264,033 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Agrn
|
UTSW |
4 |
156,256,001 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTTGTAGGACACAGACAC -3'
(R):5'- TGGTCTAAACTCAGTGTGCAGG -3'
Sequencing Primer
(F):5'- TCTGTCCATCGGCTGAAGGTAC -3'
(R):5'- TCTAAACTCAGTGTGCAGGGGAATG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation