Incidental Mutation 'IGL02728:Gpr179'
| ID |
305297 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr179
|
| Ensembl Gene |
ENSMUSG00000070337 |
| Gene Name |
G protein-coupled receptor 179 |
| Synonyms |
5330439C02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL02728
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97222935-97242903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97228726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1143
(V1143A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093942]
|
| AlphaFold |
E9PY61 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093942
AA Change: V1143A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: V1143A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
41 |
N/A |
INTRINSIC |
|
EGF
|
281 |
357 |
1.91e1 |
SMART |
|
Pfam:7tm_3
|
391 |
633 |
3.2e-40 |
PFAM |
|
low complexity region
|
735 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
868 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
959 |
988 |
N/A |
INTRINSIC |
|
low complexity region
|
1107 |
1125 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1156 |
1467 |
1.99e-12 |
PROSPERO |
|
internal_repeat_1
|
1235 |
1674 |
2.85e-27 |
PROSPERO |
|
internal_repeat_2
|
1569 |
1879 |
1.99e-12 |
PROSPERO |
|
internal_repeat_1
|
1756 |
2284 |
2.85e-27 |
PROSPERO |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit absence of b wave without retinal abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
G |
T |
9: 90,073,880 (GRCm39) |
|
probably benign |
Het |
| Als2 |
A |
G |
1: 59,235,506 (GRCm39) |
V726A |
probably benign |
Het |
| Apba1 |
G |
A |
19: 23,922,269 (GRCm39) |
G779E |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,818,528 (GRCm39) |
V2167E |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,983,846 (GRCm39) |
K566E |
probably damaging |
Het |
| Btd |
T |
C |
14: 31,389,319 (GRCm39) |
F347L |
probably benign |
Het |
| Btg2 |
T |
C |
1: 134,006,643 (GRCm39) |
|
probably benign |
Het |
| Cblb |
T |
A |
16: 52,003,672 (GRCm39) |
S717T |
probably benign |
Het |
| Cep250 |
T |
A |
2: 155,825,198 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,828,968 (GRCm39) |
N312S |
probably benign |
Het |
| Clasp1 |
A |
T |
1: 118,530,107 (GRCm39) |
T1490S |
probably damaging |
Het |
| Col7a1 |
T |
A |
9: 108,813,172 (GRCm39) |
C2906S |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,049,779 (GRCm39) |
|
probably null |
Het |
| Cspg4 |
T |
A |
9: 56,793,765 (GRCm39) |
V500E |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,126,739 (GRCm39) |
D469V |
probably damaging |
Het |
| Dhh |
A |
T |
15: 98,792,192 (GRCm39) |
|
probably null |
Het |
| Dhrs3 |
A |
G |
4: 144,646,642 (GRCm39) |
R231G |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,356,495 (GRCm39) |
S122P |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,005,955 (GRCm39) |
I2275V |
probably benign |
Het |
| Dock8 |
A |
C |
19: 25,109,584 (GRCm39) |
N922T |
probably benign |
Het |
| Eef1d |
A |
G |
15: 75,774,945 (GRCm39) |
L154P |
probably damaging |
Het |
| Eif4ebp1 |
C |
A |
8: 27,763,510 (GRCm39) |
P101Q |
possibly damaging |
Het |
| Eif4g1 |
T |
G |
16: 20,505,502 (GRCm39) |
|
probably benign |
Het |
| Emb |
A |
G |
13: 117,369,301 (GRCm39) |
M50V |
probably benign |
Het |
| Eml4 |
T |
C |
17: 83,780,568 (GRCm39) |
|
probably null |
Het |
| Fkbp10 |
G |
T |
11: 100,306,803 (GRCm39) |
R65L |
probably damaging |
Het |
| Gm5878 |
T |
C |
6: 85,095,574 (GRCm39) |
N83S |
probably benign |
Het |
| Gm8165 |
C |
T |
14: 43,913,694 (GRCm39) |
A57T |
unknown |
Het |
| Hat1 |
T |
C |
2: 71,251,604 (GRCm39) |
Y218H |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,026,689 (GRCm39) |
N885I |
probably benign |
Het |
| Ift70a1 |
T |
A |
2: 75,811,193 (GRCm39) |
M297L |
probably benign |
Het |
| Inha |
T |
C |
1: 75,486,091 (GRCm39) |
S129P |
probably damaging |
Het |
| Ints9 |
T |
C |
14: 65,230,457 (GRCm39) |
I128T |
probably damaging |
Het |
| Klra9 |
T |
C |
6: 130,168,149 (GRCm39) |
|
probably null |
Het |
| Lrba |
A |
G |
3: 86,683,356 (GRCm39) |
E2726G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,691,410 (GRCm39) |
N3356D |
probably benign |
Het |
| Map3k5 |
A |
G |
10: 19,994,038 (GRCm39) |
D1008G |
possibly damaging |
Het |
| Med4 |
T |
A |
14: 73,755,415 (GRCm39) |
L241Q |
possibly damaging |
Het |
| Mtch1 |
A |
G |
17: 29,557,716 (GRCm39) |
V254A |
possibly damaging |
Het |
| Napg |
C |
T |
18: 63,127,375 (GRCm39) |
|
probably benign |
Het |
| Or1j11 |
T |
C |
2: 36,312,156 (GRCm39) |
S249P |
possibly damaging |
Het |
| Or5k1 |
C |
T |
16: 58,617,843 (GRCm39) |
R122H |
probably benign |
Het |
| Or7g33 |
A |
G |
9: 19,449,142 (GRCm39) |
F28S |
possibly damaging |
Het |
| Or8d2 |
T |
C |
9: 38,760,222 (GRCm39) |
S271P |
probably damaging |
Het |
| Or9r3 |
T |
A |
10: 129,948,487 (GRCm39) |
R57S |
probably damaging |
Het |
| Pias1 |
T |
A |
9: 62,830,926 (GRCm39) |
S161C |
probably damaging |
Het |
| Pias1 |
G |
T |
9: 62,830,927 (GRCm39) |
N160K |
possibly damaging |
Het |
| Pigp |
G |
A |
16: 94,168,466 (GRCm39) |
P37S |
probably damaging |
Het |
| Pik3c2b |
T |
A |
1: 133,020,065 (GRCm39) |
V1070E |
probably benign |
Het |
| Pramel51 |
G |
T |
12: 88,142,792 (GRCm39) |
H275Q |
probably benign |
Het |
| Prepl |
T |
C |
17: 85,378,010 (GRCm39) |
T457A |
probably damaging |
Het |
| Psg23 |
G |
A |
7: 18,340,853 (GRCm39) |
A467V |
probably benign |
Het |
| Rad54l |
T |
C |
4: 115,980,146 (GRCm39) |
R13G |
probably benign |
Het |
| Rassf5 |
T |
C |
1: 131,108,336 (GRCm39) |
D248G |
probably damaging |
Het |
| Rspo1 |
A |
G |
4: 124,898,955 (GRCm39) |
N92S |
probably damaging |
Het |
| Scube1 |
G |
A |
15: 83,543,217 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
C |
A |
19: 44,511,554 (GRCm39) |
V616F |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,615,881 (GRCm39) |
V435A |
probably damaging |
Het |
| Slc7a10 |
T |
A |
7: 34,897,123 (GRCm39) |
I208N |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,692,420 (GRCm39) |
M2151K |
possibly damaging |
Het |
| Tacc1 |
T |
C |
8: 25,665,235 (GRCm39) |
D50G |
probably damaging |
Het |
| Tas2r121 |
G |
T |
6: 132,677,480 (GRCm39) |
T164N |
probably damaging |
Het |
| Tatdn2 |
T |
C |
6: 113,681,676 (GRCm39) |
W570R |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,323,628 (GRCm39) |
F600I |
probably damaging |
Het |
| Trim36 |
T |
A |
18: 46,305,669 (GRCm39) |
H426L |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,787,016 (GRCm39) |
N531Y |
possibly damaging |
Het |
| Ttc39a |
T |
C |
4: 109,299,920 (GRCm39) |
C470R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,615,283 (GRCm39) |
E8485K |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,196,122 (GRCm39) |
I1253F |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,088,688 (GRCm39) |
H1724L |
possibly damaging |
Het |
| Vmn1r40 |
T |
A |
6: 89,691,998 (GRCm39) |
C89S |
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
|
| Other mutations in Gpr179 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01088:Gpr179
|
APN |
11 |
97,228,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01152:Gpr179
|
APN |
11 |
97,228,237 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01402:Gpr179
|
APN |
11 |
97,229,012 (GRCm39) |
nonsense |
probably null |
|
|
IGL01404:Gpr179
|
APN |
11 |
97,229,012 (GRCm39) |
nonsense |
probably null |
|
|
IGL01773:Gpr179
|
APN |
11 |
97,232,192 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02682:Gpr179
|
APN |
11 |
97,242,691 (GRCm39) |
missense |
probably benign |
|
|
IGL03243:Gpr179
|
APN |
11 |
97,242,301 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03272:Gpr179
|
APN |
11 |
97,227,419 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03347:Gpr179
|
APN |
11 |
97,242,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03355:Gpr179
|
APN |
11 |
97,228,434 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
PIT4280001:Gpr179
|
UTSW |
11 |
97,234,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4366001:Gpr179
|
UTSW |
11 |
97,227,677 (GRCm39) |
missense |
probably benign |
|
|
R0042:Gpr179
|
UTSW |
11 |
97,225,757 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0042:Gpr179
|
UTSW |
11 |
97,225,757 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0080:Gpr179
|
UTSW |
11 |
97,242,295 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0255:Gpr179
|
UTSW |
11 |
97,226,892 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0412:Gpr179
|
UTSW |
11 |
97,229,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Gpr179
|
UTSW |
11 |
97,240,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Gpr179
|
UTSW |
11 |
97,229,264 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0786:Gpr179
|
UTSW |
11 |
97,234,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Gpr179
|
UTSW |
11 |
97,237,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1761:Gpr179
|
UTSW |
11 |
97,225,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1796:Gpr179
|
UTSW |
11 |
97,227,382 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1969:Gpr179
|
UTSW |
11 |
97,228,784 (GRCm39) |
missense |
probably benign |
|
|
R2240:Gpr179
|
UTSW |
11 |
97,242,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3855:Gpr179
|
UTSW |
11 |
97,232,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Gpr179
|
UTSW |
11 |
97,225,591 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4484:Gpr179
|
UTSW |
11 |
97,226,537 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4806:Gpr179
|
UTSW |
11 |
97,240,610 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4816:Gpr179
|
UTSW |
11 |
97,230,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4906:Gpr179
|
UTSW |
11 |
97,237,487 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4945:Gpr179
|
UTSW |
11 |
97,240,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Gpr179
|
UTSW |
11 |
97,228,975 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5273:Gpr179
|
UTSW |
11 |
97,238,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5317:Gpr179
|
UTSW |
11 |
97,228,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5459:Gpr179
|
UTSW |
11 |
97,227,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5507:Gpr179
|
UTSW |
11 |
97,229,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5523:Gpr179
|
UTSW |
11 |
97,227,608 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5536:Gpr179
|
UTSW |
11 |
97,234,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5591:Gpr179
|
UTSW |
11 |
97,236,581 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5679:Gpr179
|
UTSW |
11 |
97,227,571 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5738:Gpr179
|
UTSW |
11 |
97,242,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5829:Gpr179
|
UTSW |
11 |
97,226,524 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5836:Gpr179
|
UTSW |
11 |
97,229,882 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6007:Gpr179
|
UTSW |
11 |
97,226,628 (GRCm39) |
nonsense |
probably null |
|
|
R6047:Gpr179
|
UTSW |
11 |
97,229,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Gpr179
|
UTSW |
11 |
97,235,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Gpr179
|
UTSW |
11 |
97,227,973 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6674:Gpr179
|
UTSW |
11 |
97,238,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6712:Gpr179
|
UTSW |
11 |
97,226,993 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6835:Gpr179
|
UTSW |
11 |
97,238,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Gpr179
|
UTSW |
11 |
97,225,684 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7044:Gpr179
|
UTSW |
11 |
97,240,616 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7121:Gpr179
|
UTSW |
11 |
97,225,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7307:Gpr179
|
UTSW |
11 |
97,229,672 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7406:Gpr179
|
UTSW |
11 |
97,242,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7467:Gpr179
|
UTSW |
11 |
97,226,115 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7477:Gpr179
|
UTSW |
11 |
97,226,665 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7725:Gpr179
|
UTSW |
11 |
97,242,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8028:Gpr179
|
UTSW |
11 |
97,228,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8165:Gpr179
|
UTSW |
11 |
97,242,364 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8262:Gpr179
|
UTSW |
11 |
97,226,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8674:Gpr179
|
UTSW |
11 |
97,225,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8695:Gpr179
|
UTSW |
11 |
97,227,124 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8731:Gpr179
|
UTSW |
11 |
97,234,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Gpr179
|
UTSW |
11 |
97,242,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Gpr179
|
UTSW |
11 |
97,226,590 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8892:Gpr179
|
UTSW |
11 |
97,226,590 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8898:Gpr179
|
UTSW |
11 |
97,242,329 (GRCm39) |
nonsense |
probably null |
|
|
R8940:Gpr179
|
UTSW |
11 |
97,228,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Gpr179
|
UTSW |
11 |
97,227,766 (GRCm39) |
missense |
probably benign |
|
|
R9332:Gpr179
|
UTSW |
11 |
97,229,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9440:Gpr179
|
UTSW |
11 |
97,229,315 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9557:Gpr179
|
UTSW |
11 |
97,235,029 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9594:Gpr179
|
UTSW |
11 |
97,225,727 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9723:Gpr179
|
UTSW |
11 |
97,225,546 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
X0065:Gpr179
|
UTSW |
11 |
97,238,264 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1176:Gpr179
|
UTSW |
11 |
97,227,474 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Gpr179
|
UTSW |
11 |
97,242,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation