Incidental Mutation 'R7406:Gpr179'
ID |
574755 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr179
|
Ensembl Gene |
ENSMUSG00000070337 |
Gene Name |
G protein-coupled receptor 179 |
Synonyms |
5330439C02Rik |
MMRRC Submission |
045487-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R7406 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
97222935-97242903 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 97242420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 141
(D141E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093942]
|
AlphaFold |
E9PY61 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093942
AA Change: D141E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000091474 Gene: ENSMUSG00000070337 AA Change: D141E
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 |
|
Meta Mutation Damage Score |
0.1554 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (60/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810459M11Rik |
T |
C |
1: 85,974,231 (GRCm39) |
S183P |
possibly damaging |
Het |
2900092C05Rik |
A |
G |
7: 12,249,391 (GRCm39) |
T75A |
possibly damaging |
Het |
Abhd8 |
A |
G |
8: 71,914,406 (GRCm39) |
V74A |
probably benign |
Het |
Agrn |
A |
C |
4: 156,256,758 (GRCm39) |
S1282R |
possibly damaging |
Het |
Atf5 |
T |
C |
7: 44,462,380 (GRCm39) |
N248S |
possibly damaging |
Het |
Atp2a3 |
A |
G |
11: 72,869,576 (GRCm39) |
Y497C |
probably damaging |
Het |
Bpifa2 |
T |
G |
2: 153,851,739 (GRCm39) |
S58R |
probably benign |
Het |
Cacna1h |
C |
T |
17: 25,604,600 (GRCm39) |
E1238K |
possibly damaging |
Het |
Ccdc71 |
T |
A |
9: 108,340,523 (GRCm39) |
L112* |
probably null |
Het |
Cd300e |
A |
T |
11: 114,946,128 (GRCm39) |
I111N |
probably damaging |
Het |
Cdkl3 |
A |
T |
11: 51,924,369 (GRCm39) |
E552D |
probably benign |
Het |
Chst5 |
A |
G |
8: 112,617,245 (GRCm39) |
V125A |
probably benign |
Het |
Clock |
A |
T |
5: 76,414,692 (GRCm39) |
M1K |
probably null |
Het |
Cops7b |
T |
A |
1: 86,528,852 (GRCm39) |
L193Q |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,338,707 (GRCm39) |
T467A |
probably damaging |
Het |
Ctr9 |
A |
G |
7: 110,652,615 (GRCm39) |
E971G |
unknown |
Het |
Dcp2 |
A |
G |
18: 44,543,254 (GRCm39) |
T271A |
probably benign |
Het |
Dsp |
A |
G |
13: 38,381,172 (GRCm39) |
N2639S |
possibly damaging |
Het |
Fhip1a |
T |
C |
3: 85,637,784 (GRCm39) |
I172V |
probably benign |
Het |
Gm11168 |
C |
G |
9: 3,006,912 (GRCm39) |
C212W |
probably benign |
Het |
H2bc4 |
A |
G |
13: 23,868,342 (GRCm39) |
Y43C |
probably damaging |
Het |
Hdhd2 |
C |
T |
18: 77,031,811 (GRCm39) |
T89M |
probably benign |
Het |
Krt6b |
T |
G |
15: 101,587,513 (GRCm39) |
T194P |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,266,030 (GRCm39) |
|
probably null |
Het |
Maneal |
A |
T |
4: 124,754,161 (GRCm39) |
I214N |
possibly damaging |
Het |
Map1lc3b |
T |
A |
8: 122,317,355 (GRCm39) |
C11S |
unknown |
Het |
Mapt |
G |
A |
11: 104,213,350 (GRCm39) |
G296E |
possibly damaging |
Het |
Mgam |
A |
G |
6: 40,640,459 (GRCm39) |
N509S |
probably benign |
Het |
Mrgprx1 |
T |
A |
7: 47,671,733 (GRCm39) |
I5F |
possibly damaging |
Het |
Mroh5 |
T |
C |
15: 73,659,583 (GRCm39) |
D416G |
probably benign |
Het |
Ncan |
T |
G |
8: 70,562,749 (GRCm39) |
D503A |
probably benign |
Het |
Nedd1 |
A |
T |
10: 92,547,185 (GRCm39) |
|
probably null |
Het |
Ogdh |
A |
G |
11: 6,298,351 (GRCm39) |
T641A |
probably benign |
Het |
Or2b6 |
T |
C |
13: 21,823,316 (GRCm39) |
I126V |
probably benign |
Het |
Or4k2 |
T |
A |
14: 50,424,015 (GRCm39) |
I221F |
probably damaging |
Het |
Or6c219 |
A |
T |
10: 129,781,435 (GRCm39) |
D50E |
probably benign |
Het |
Or8b1b |
T |
A |
9: 38,375,439 (GRCm39) |
M34K |
possibly damaging |
Het |
Pcdhga8 |
A |
C |
18: 37,859,238 (GRCm39) |
Q98P |
possibly damaging |
Het |
Pik3c2a |
A |
G |
7: 115,953,242 (GRCm39) |
Y1218H |
probably damaging |
Het |
Ppp3cc |
A |
T |
14: 70,483,387 (GRCm39) |
S229T |
possibly damaging |
Het |
Prss43 |
T |
G |
9: 110,657,764 (GRCm39) |
I221S |
probably damaging |
Het |
Rasal1 |
A |
T |
5: 120,801,002 (GRCm39) |
T221S |
probably benign |
Het |
Serpinb9f |
G |
T |
13: 33,518,543 (GRCm39) |
E348* |
probably null |
Het |
Sfxn5 |
A |
G |
6: 85,244,889 (GRCm39) |
Y169H |
probably damaging |
Het |
Skint9 |
T |
C |
4: 112,246,428 (GRCm39) |
N228S |
probably benign |
Het |
Slx4ip |
A |
T |
2: 136,842,162 (GRCm39) |
D29V |
probably damaging |
Het |
Snx29 |
G |
T |
16: 11,573,180 (GRCm39) |
G474V |
probably damaging |
Het |
Spata6 |
T |
A |
4: 111,638,017 (GRCm39) |
D282E |
possibly damaging |
Het |
Srek1 |
A |
T |
13: 103,905,890 (GRCm39) |
V77E |
probably damaging |
Het |
Timd6 |
A |
G |
11: 46,468,285 (GRCm39) |
T120A |
possibly damaging |
Het |
Tmt1a3 |
T |
C |
15: 100,233,289 (GRCm39) |
V160A |
probably benign |
Het |
Tnfrsf22 |
T |
C |
7: 143,194,564 (GRCm39) |
D121G |
probably damaging |
Het |
Ucma |
G |
A |
2: 4,990,170 (GRCm39) |
W122* |
probably null |
Het |
Vmn2r124 |
T |
C |
17: 18,282,306 (GRCm39) |
M113T |
unknown |
Het |
Vmn2r54 |
A |
T |
7: 12,350,150 (GRCm39) |
|
probably null |
Het |
Vmn2r8 |
A |
G |
5: 108,948,442 (GRCm39) |
L482S |
probably benign |
Het |
Vwa3a |
T |
A |
7: 120,378,138 (GRCm39) |
I476N |
probably damaging |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wdr26 |
A |
T |
1: 181,015,240 (GRCm39) |
S390R |
probably damaging |
Het |
Zbtb40 |
A |
T |
4: 136,728,205 (GRCm39) |
S471T |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGTACTCGCTTCTGGAGG -3'
(R):5'- TGTTCAACGGCTGTCAGGAG -3'
Sequencing Primer
(F):5'- GGACAGGACGATCCAGATCCTC -3'
(R):5'- GCTGTCAGGAGCAAACTGC -3'
|
Posted On |
2019-10-07 |