Incidental Mutation 'IGL01404:Gpr179'
ID |
278381 |
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 # |
IGL01404
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
97222935-97242903 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 97229012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Stop codon
at position 1048
(G1048*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093942]
|
AlphaFold |
E9PY61 |
Predicted Effect |
probably null
Transcript: ENSMUST00000093942
AA Change: G1048*
|
SMART Domains |
Protein: ENSMUSP00000091474 Gene: ENSMUSG00000070337 AA Change: G1048*
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,211,152 (GRCm39) |
|
probably null |
Het |
4921524L21Rik |
T |
C |
18: 6,638,653 (GRCm39) |
S351P |
possibly damaging |
Het |
Ablim3 |
A |
G |
18: 62,004,754 (GRCm39) |
Y12H |
probably damaging |
Het |
Adam2 |
C |
T |
14: 66,314,659 (GRCm39) |
|
probably null |
Het |
Adgre4 |
A |
T |
17: 56,104,639 (GRCm39) |
N235I |
possibly damaging |
Het |
Aldh3b1 |
A |
C |
19: 3,971,205 (GRCm39) |
V153G |
probably benign |
Het |
B430306N03Rik |
A |
G |
17: 48,628,101 (GRCm39) |
Y177C |
probably damaging |
Het |
Cast |
A |
T |
13: 74,886,406 (GRCm39) |
Y249* |
probably null |
Het |
Cfap43 |
T |
C |
19: 47,784,105 (GRCm39) |
D476G |
probably benign |
Het |
Cpa4 |
T |
C |
6: 30,581,701 (GRCm39) |
I216T |
possibly damaging |
Het |
Cpeb3 |
T |
C |
19: 37,065,948 (GRCm39) |
D407G |
probably benign |
Het |
Ctnnal1 |
T |
C |
4: 56,829,590 (GRCm39) |
D413G |
probably damaging |
Het |
Cyb5a |
A |
G |
18: 84,895,985 (GRCm39) |
S84G |
probably benign |
Het |
Dpy19l4 |
C |
A |
4: 11,273,006 (GRCm39) |
|
probably null |
Het |
Erbin |
A |
T |
13: 103,975,972 (GRCm39) |
S641T |
probably damaging |
Het |
Espn |
T |
A |
4: 152,222,901 (GRCm39) |
T326S |
probably benign |
Het |
Extl1 |
T |
C |
4: 134,086,514 (GRCm39) |
M514V |
probably benign |
Het |
Fancc |
G |
A |
13: 63,509,452 (GRCm39) |
L134F |
probably damaging |
Het |
Fis1 |
C |
T |
5: 136,994,828 (GRCm39) |
A90V |
probably benign |
Het |
Gdi2 |
A |
G |
13: 3,614,611 (GRCm39) |
T319A |
probably benign |
Het |
Gjc3 |
A |
G |
5: 137,956,120 (GRCm39) |
F55S |
probably damaging |
Het |
Gm10762 |
C |
T |
2: 128,809,005 (GRCm39) |
|
probably benign |
Het |
Got1 |
A |
G |
19: 43,493,048 (GRCm39) |
I291T |
possibly damaging |
Het |
Ino80 |
T |
A |
2: 119,287,199 (GRCm39) |
D56V |
possibly damaging |
Het |
Kcp |
C |
A |
6: 29,496,638 (GRCm39) |
C624F |
probably damaging |
Het |
Kctd1 |
T |
A |
18: 15,102,610 (GRCm39) |
Q857L |
probably damaging |
Het |
Lins1 |
G |
A |
7: 66,363,676 (GRCm39) |
V524I |
probably damaging |
Het |
Lrp1 |
A |
T |
10: 127,430,901 (GRCm39) |
Y383N |
probably damaging |
Het |
Mgam |
A |
C |
6: 40,621,879 (GRCm39) |
K84Q |
probably benign |
Het |
Mib2 |
T |
A |
4: 155,739,393 (GRCm39) |
E862V |
probably damaging |
Het |
Myh1 |
G |
T |
11: 67,112,977 (GRCm39) |
R1827L |
possibly damaging |
Het |
Myh10 |
T |
C |
11: 68,642,866 (GRCm39) |
|
probably null |
Het |
Myo1e |
A |
G |
9: 70,245,048 (GRCm39) |
Y382C |
probably benign |
Het |
Nktr |
G |
A |
9: 121,570,218 (GRCm39) |
|
probably null |
Het |
Nlrc4 |
A |
G |
17: 74,752,706 (GRCm39) |
I559T |
probably damaging |
Het |
Nod2 |
A |
T |
8: 89,390,364 (GRCm39) |
M224L |
probably benign |
Het |
Or4d5 |
A |
G |
9: 40,012,558 (GRCm39) |
I76T |
probably benign |
Het |
Or52n4 |
A |
T |
7: 104,293,687 (GRCm39) |
Y295* |
probably null |
Het |
Or5k8 |
G |
A |
16: 58,644,958 (GRCm39) |
T38I |
probably damaging |
Het |
Pex7 |
G |
T |
10: 19,770,557 (GRCm39) |
|
probably benign |
Het |
Ptprb |
A |
T |
10: 116,175,341 (GRCm39) |
D1112V |
probably benign |
Het |
Rubcn |
G |
A |
16: 32,647,666 (GRCm39) |
T636M |
probably damaging |
Het |
Scn5a |
A |
C |
9: 119,315,536 (GRCm39) |
L1724R |
probably damaging |
Het |
Sec14l2 |
T |
C |
11: 4,066,710 (GRCm39) |
D34G |
possibly damaging |
Het |
Serpina3k |
A |
G |
12: 104,306,882 (GRCm39) |
D38G |
probably benign |
Het |
Sh3bgr |
A |
C |
16: 96,007,690 (GRCm39) |
K18N |
probably damaging |
Het |
Sh3bp5l |
A |
T |
11: 58,236,886 (GRCm39) |
H281L |
probably benign |
Het |
Slc28a2 |
T |
G |
2: 122,282,538 (GRCm39) |
I287M |
probably damaging |
Het |
Slc2a1 |
T |
A |
4: 118,989,435 (GRCm39) |
M45K |
possibly damaging |
Het |
Syt11 |
A |
G |
3: 88,669,523 (GRCm39) |
I123T |
probably benign |
Het |
Tfg |
C |
A |
16: 56,514,856 (GRCm39) |
|
probably benign |
Het |
Tmem177 |
T |
C |
1: 119,837,791 (GRCm39) |
D296G |
probably damaging |
Het |
Trabd2b |
A |
G |
4: 114,457,153 (GRCm39) |
I357V |
probably benign |
Het |
Trp63 |
C |
A |
16: 25,639,135 (GRCm39) |
|
probably benign |
Het |
Ugt1a8 |
T |
C |
1: 88,015,617 (GRCm39) |
L10P |
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 20,032,696 (GRCm39) |
I823M |
probably damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,484,467 (GRCm39) |
N446S |
probably damaging |
Het |
Vps13c |
A |
T |
9: 67,820,486 (GRCm39) |
|
probably null |
Het |
Vwa3b |
C |
T |
1: 37,193,117 (GRCm39) |
T11I |
probably benign |
Het |
Vwf |
A |
C |
6: 125,654,933 (GRCm39) |
Q2543P |
probably damaging |
Het |
Yap1 |
G |
A |
9: 7,934,742 (GRCm39) |
|
probably benign |
Het |
Zfp282 |
A |
C |
6: 47,874,770 (GRCm39) |
D325A |
probably damaging |
Het |
Zfyve9 |
T |
G |
4: 108,539,348 (GRCm39) |
Y975S |
probably damaging |
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 |
|
IGL01773:Gpr179
|
APN |
11 |
97,232,192 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02682:Gpr179
|
APN |
11 |
97,242,691 (GRCm39) |
missense |
probably benign |
|
IGL02728:Gpr179
|
APN |
11 |
97,228,726 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |