Incidental Mutation 'R8956:Agrn'
| ID |
681999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agrn
|
| Ensembl Gene |
ENSMUSG00000041936 |
| Gene Name |
agrin |
| Synonyms |
Agrin, NMF380, nmf380 |
| MMRRC Submission |
068792-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R8956 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156249747-156281945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 156250995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1914
(D1914E)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000071229
Gene: ENSMUSG00000041936
| 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 damaging
Transcript: ENSMUST00000105574
AA Change: D1914E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101199
Gene: ENSMUSG00000041936
AA Change: D1914E
| 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 damaging
Transcript: ENSMUST00000105575
AA Change: D1937E
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101200
Gene: ENSMUSG00000041936
AA Change: D1937E
| 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: D2021E
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
AA Change: D2021E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (87/89) |
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
C |
T |
7: 78,750,713 (GRCm39) |
T1828I |
probably benign |
Het |
| Acsf2 |
A |
G |
11: 94,461,211 (GRCm39) |
S322P |
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,391,438 (GRCm39) |
I170N |
probably damaging |
Het |
| Adam22 |
G |
A |
5: 8,142,343 (GRCm39) |
T814I |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,187,127 (GRCm39) |
S1514P |
probably benign |
Het |
| Akap9 |
T |
C |
5: 3,998,805 (GRCm39) |
L58P |
possibly damaging |
Het |
| Apof |
A |
G |
10: 128,105,712 (GRCm39) |
I289V |
probably benign |
Het |
| Arhgap35 |
G |
A |
7: 16,348,404 (GRCm39) |
|
probably benign |
Het |
| Atad3a |
A |
C |
4: 155,838,054 (GRCm39) |
F239L |
probably damaging |
Het |
| Atf6 |
T |
C |
1: 170,621,576 (GRCm39) |
T482A |
probably damaging |
Het |
| Atg9b |
T |
C |
5: 24,591,850 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
T |
A |
2: 126,167,327 (GRCm39) |
|
probably null |
Het |
| B4galt5 |
T |
C |
2: 167,143,260 (GRCm39) |
Y388C |
probably damaging |
Het |
| Bahd1 |
T |
C |
2: 118,749,689 (GRCm39) |
L495P |
probably damaging |
Het |
| Bcl6 |
T |
C |
16: 23,793,716 (GRCm39) |
E77G |
probably damaging |
Het |
| Bst1 |
C |
A |
5: 43,982,716 (GRCm39) |
S187* |
probably null |
Het |
| Car4 |
A |
G |
11: 84,855,377 (GRCm39) |
N170S |
probably null |
Het |
| Cdk14 |
A |
T |
5: 5,277,182 (GRCm39) |
V131E |
probably damaging |
Het |
| Cdk4 |
T |
A |
10: 126,900,546 (GRCm39) |
|
probably benign |
Het |
| Cebpe |
T |
C |
14: 54,949,121 (GRCm39) |
R99G |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,276,300 (GRCm39) |
G736D |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,937,480 (GRCm39) |
V477D |
possibly damaging |
Het |
| Coq9 |
G |
A |
8: 95,576,886 (GRCm39) |
G166D |
probably benign |
Het |
| Cttnbp2 |
A |
T |
6: 18,434,165 (GRCm39) |
N564K |
possibly damaging |
Het |
| Dgkq |
T |
C |
5: 108,798,095 (GRCm39) |
N721S |
probably benign |
Het |
| Dnhd1 |
A |
T |
7: 105,341,852 (GRCm39) |
Y1217F |
probably damaging |
Het |
| Eef1akmt4 |
G |
T |
16: 20,437,398 (GRCm39) |
E247* |
probably null |
Het |
| Elovl7 |
A |
T |
13: 108,393,320 (GRCm39) |
I18F |
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,818,952 (GRCm39) |
K785E |
possibly damaging |
Het |
| Faap100 |
C |
A |
11: 120,268,185 (GRCm39) |
C196F |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,173,729 (GRCm39) |
T2328M |
probably damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,041,204 (GRCm39) |
I121N |
probably benign |
Het |
| Gm12253 |
A |
G |
11: 58,327,605 (GRCm39) |
K152E |
probably benign |
Het |
| Gm16440 |
T |
A |
14: 17,574,527 (GRCm39) |
R167* |
probably null |
Het |
| Gm43302 |
T |
A |
5: 105,425,602 (GRCm39) |
I276F |
possibly damaging |
Het |
| Gys2 |
A |
G |
6: 142,374,267 (GRCm39) |
S593P |
probably damaging |
Het |
| H2-M10.4 |
T |
A |
17: 36,772,245 (GRCm39) |
N168Y |
probably benign |
Het |
| Hpca |
C |
A |
4: 129,012,287 (GRCm39) |
R83L |
probably damaging |
Het |
| Igkv8-28 |
A |
G |
6: 70,121,109 (GRCm39) |
F13L |
probably benign |
Het |
| Il17ra |
A |
T |
6: 120,458,465 (GRCm39) |
I539F |
probably damaging |
Het |
| Kdm4a |
A |
G |
4: 118,019,013 (GRCm39) |
V401A |
possibly damaging |
Het |
| Krt86 |
A |
T |
15: 101,375,157 (GRCm39) |
T351S |
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,021,378 (GRCm39) |
C801R |
probably benign |
Het |
| Lrrn4 |
G |
A |
2: 132,714,011 (GRCm39) |
P312S |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,368,641 (GRCm39) |
H2040L |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,502,466 (GRCm39) |
K317E |
possibly damaging |
Het |
| Maip1 |
T |
C |
1: 57,450,961 (GRCm39) |
I201T |
probably damaging |
Het |
| Map4k4 |
C |
A |
1: 40,039,840 (GRCm39) |
D513E |
probably benign |
Het |
| Mideas |
T |
A |
12: 84,209,102 (GRCm39) |
I667L |
probably benign |
Het |
| Mpped1 |
G |
A |
15: 83,740,469 (GRCm39) |
G137R |
probably damaging |
Het |
| Mrgprd |
T |
G |
7: 144,875,923 (GRCm39) |
F265V |
probably benign |
Het |
| Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
| Mylk |
A |
G |
16: 34,791,779 (GRCm39) |
T1484A |
probably benign |
Het |
| Nbas |
C |
T |
12: 13,482,923 (GRCm39) |
S1400L |
possibly damaging |
Het |
| Nedd4 |
T |
A |
9: 72,633,708 (GRCm39) |
S405T |
probably benign |
Het |
| Neil2 |
A |
G |
14: 63,429,227 (GRCm39) |
V22A |
probably damaging |
Het |
| Nrip1 |
G |
C |
16: 76,089,193 (GRCm39) |
A788G |
probably benign |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or10ab4 |
A |
G |
7: 107,655,160 (GRCm39) |
T324A |
probably benign |
Het |
| Or10d4c |
C |
T |
9: 39,558,496 (GRCm39) |
T158I |
probably damaging |
Het |
| Or2b7 |
T |
C |
13: 21,740,169 (GRCm39) |
I8V |
probably benign |
Het |
| Or2bd2 |
G |
A |
7: 6,442,020 (GRCm39) |
|
probably benign |
Het |
| Or2r2 |
T |
A |
6: 42,463,830 (GRCm39) |
Q99L |
probably damaging |
Het |
| Or6c215 |
C |
T |
10: 129,638,222 (GRCm39) |
M57I |
possibly damaging |
Het |
| Orc2 |
T |
C |
1: 58,505,221 (GRCm39) |
N478S |
probably damaging |
Het |
| Oxct1 |
A |
G |
15: 4,064,806 (GRCm39) |
E48G |
possibly damaging |
Het |
| Pcca |
A |
G |
14: 122,975,324 (GRCm39) |
I28V |
probably benign |
Het |
| Pcdha8 |
T |
C |
18: 37,126,241 (GRCm39) |
V241A |
probably benign |
Het |
| Pgap6 |
T |
A |
17: 26,339,374 (GRCm39) |
S563T |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pkd2 |
T |
A |
5: 104,631,090 (GRCm39) |
W505R |
probably damaging |
Het |
| Plxnc1 |
C |
T |
10: 94,746,448 (GRCm39) |
V430I |
probably benign |
Het |
| Prkd3 |
A |
G |
17: 79,278,883 (GRCm39) |
M401T |
probably damaging |
Het |
| Rgmb |
A |
G |
17: 16,027,748 (GRCm39) |
C324R |
probably benign |
Het |
| Rsph6a |
A |
T |
7: 18,799,364 (GRCm39) |
|
probably benign |
Het |
| Sclt1 |
A |
T |
3: 41,636,209 (GRCm39) |
M264K |
probably benign |
Het |
| Serhl |
T |
A |
15: 82,985,899 (GRCm39) |
V30D |
possibly damaging |
Het |
| Sfrp1 |
T |
C |
8: 23,902,159 (GRCm39) |
V120A |
probably damaging |
Het |
| Slc22a8 |
C |
T |
19: 8,587,030 (GRCm39) |
Q408* |
probably null |
Het |
| Slc35b2 |
A |
G |
17: 45,877,673 (GRCm39) |
T218A |
probably damaging |
Het |
| Slco4c1 |
A |
T |
1: 96,765,242 (GRCm39) |
F403I |
probably damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,351,660 (GRCm39) |
H250L |
probably damaging |
Het |
| Sorcs3 |
T |
A |
19: 48,737,810 (GRCm39) |
C742* |
probably null |
Het |
| Tnc |
T |
C |
4: 63,918,970 (GRCm39) |
Y1151C |
probably damaging |
Het |
| Tor1aip1 |
T |
A |
1: 155,909,582 (GRCm39) |
|
probably benign |
Het |
| Trim9 |
T |
C |
12: 70,393,665 (GRCm39) |
Q93R |
probably damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,570,813 (GRCm39) |
Y613C |
probably damaging |
Het |
| Ttc6 |
C |
T |
12: 57,775,196 (GRCm39) |
Q1631* |
probably null |
Het |
| Ubr5 |
A |
G |
15: 38,015,367 (GRCm39) |
L881P |
probably damaging |
Het |
| Upp2 |
C |
T |
2: 58,457,454 (GRCm39) |
|
probably benign |
Het |
| Vmn1r203 |
T |
A |
13: 22,709,004 (GRCm39) |
S262T |
possibly damaging |
Het |
| Vmn2r116 |
A |
T |
17: 23,605,736 (GRCm39) |
D216V |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,177,049 (GRCm39) |
Q96R |
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 |
|
R6351:Agrn
|
UTSW |
4 |
156,263,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- TTTGTCTCTGCAGCACAGC -3'
(R):5'- GTTTGTACACATGTATAGCACCCC -3'
Sequencing Primer
(F):5'- AGCTGCCCGGACGGAAAG -3'
(R):5'- TGTATAGCACCCCACTGGCAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation