Incidental Mutation 'R4945:Gpr179'
| ID |
381322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr179
|
| Ensembl Gene |
ENSMUSG00000070337 |
| Gene Name |
G protein-coupled receptor 179 |
| Synonyms |
5330439C02Rik |
| MMRRC Submission |
042542-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R4945 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
97222935-97242903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97240544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 293
(H293R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093942]
|
| AlphaFold |
E9PY61 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093942
AA Change: H293R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: H293R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162544
|
| Meta Mutation Damage Score |
0.3393 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
G |
A |
2: 26,876,622 (GRCm39) |
R512H |
probably damaging |
Het |
| Adgrl2 |
T |
A |
3: 148,528,672 (GRCm39) |
M1158L |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,659,895 (GRCm39) |
H153Q |
probably damaging |
Het |
| Aldh1a2 |
C |
A |
9: 71,123,198 (GRCm39) |
Q24K |
probably benign |
Het |
| Atp1b1 |
A |
G |
1: 164,265,867 (GRCm39) |
V298A |
probably damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,631,163 (GRCm39) |
N74K |
possibly damaging |
Het |
| Cep135 |
A |
G |
5: 76,745,275 (GRCm39) |
D229G |
probably benign |
Het |
| Cerk |
C |
G |
15: 86,040,802 (GRCm39) |
D186H |
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,948,065 (GRCm39) |
F125S |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,548,106 (GRCm39) |
V650A |
unknown |
Het |
| Cuzd1 |
A |
G |
7: 130,918,350 (GRCm39) |
F196L |
probably damaging |
Het |
| Esm1 |
T |
G |
13: 113,346,679 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
T |
A |
18: 58,183,325 (GRCm39) |
I1787F |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,831,891 (GRCm39) |
M87V |
possibly damaging |
Het |
| Grk2 |
A |
G |
19: 4,340,475 (GRCm39) |
I302T |
probably damaging |
Het |
| Hoxb6 |
A |
G |
11: 96,190,085 (GRCm39) |
Y28C |
possibly damaging |
Het |
| Ift27 |
A |
G |
15: 78,048,454 (GRCm39) |
V110A |
probably damaging |
Het |
| Igfbp7 |
T |
C |
5: 77,499,104 (GRCm39) |
D267G |
probably benign |
Het |
| Ighv1-49 |
C |
A |
12: 115,019,028 (GRCm39) |
V56L |
possibly damaging |
Het |
| Ighv8-8 |
C |
T |
12: 115,257,881 (GRCm39) |
M53I |
probably benign |
Het |
| Kcnj3 |
T |
A |
2: 55,327,590 (GRCm39) |
N126K |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,086,730 (GRCm39) |
|
probably null |
Het |
| Lrif1 |
A |
C |
3: 106,643,069 (GRCm39) |
I725L |
probably damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,689,123 (GRCm39) |
V2265A |
probably benign |
Het |
| Med25 |
T |
C |
7: 44,532,526 (GRCm39) |
N438S |
possibly damaging |
Het |
| Mex3b |
A |
T |
7: 82,519,382 (GRCm39) |
T566S |
probably benign |
Het |
| Mkx |
T |
C |
18: 7,000,657 (GRCm39) |
N95S |
possibly damaging |
Het |
| Morc3 |
A |
T |
16: 93,668,082 (GRCm39) |
D820V |
probably damaging |
Het |
| Mroh4 |
G |
T |
15: 74,483,857 (GRCm39) |
N562K |
probably benign |
Het |
| Ndst3 |
A |
T |
3: 123,346,201 (GRCm39) |
I276N |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,019,037 (GRCm39) |
N733S |
probably benign |
Het |
| Or10a5 |
A |
T |
7: 106,635,526 (GRCm39) |
M55L |
probably benign |
Het |
| Or2l13b |
C |
A |
16: 19,349,307 (GRCm39) |
R121L |
probably benign |
Het |
| Or51k1 |
G |
A |
7: 103,661,585 (GRCm39) |
T108I |
possibly damaging |
Het |
| Or5ak24 |
T |
C |
2: 85,260,895 (GRCm39) |
T93A |
probably benign |
Het |
| Or5m13 |
T |
A |
2: 85,748,917 (GRCm39) |
I216N |
possibly damaging |
Het |
| Or8b38 |
G |
T |
9: 37,973,068 (GRCm39) |
G151C |
probably damaging |
Het |
| Or8b44 |
A |
T |
9: 38,410,585 (GRCm39) |
I207F |
probably damaging |
Het |
| Or8k37 |
T |
C |
2: 86,469,833 (GRCm39) |
Y73C |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,383,301 (GRCm39) |
N268Y |
probably damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,774,173 (GRCm39) |
D446E |
probably damaging |
Het |
| Pcdhga11 |
A |
G |
18: 37,891,085 (GRCm39) |
T698A |
probably benign |
Het |
| Pde6a |
T |
C |
18: 61,367,790 (GRCm39) |
V266A |
probably damaging |
Het |
| Phax |
G |
T |
18: 56,709,063 (GRCm39) |
R209L |
probably damaging |
Het |
| Pld2 |
T |
A |
11: 70,446,524 (GRCm39) |
M20K |
probably damaging |
Het |
| Rabl3 |
T |
C |
16: 37,362,220 (GRCm39) |
S20P |
probably damaging |
Het |
| Rad51 |
T |
A |
2: 118,957,629 (GRCm39) |
V174E |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,851 (GRCm39) |
E1090G |
probably benign |
Het |
| Rfc3 |
T |
C |
5: 151,566,450 (GRCm39) |
E333G |
probably damaging |
Het |
| Rfx6 |
T |
G |
10: 51,602,947 (GRCm39) |
Y821* |
probably null |
Het |
| Riok3 |
A |
G |
18: 12,261,972 (GRCm39) |
D2G |
probably damaging |
Het |
| Rtn1 |
G |
T |
12: 72,264,258 (GRCm39) |
A183E |
probably damaging |
Het |
| Skint8 |
T |
C |
4: 111,796,805 (GRCm39) |
L303P |
probably damaging |
Het |
| Slc36a2 |
C |
A |
11: 55,065,520 (GRCm39) |
V162L |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,752,587 (GRCm39) |
V794A |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,444,021 (GRCm39) |
|
probably null |
Het |
| Tbk1 |
T |
C |
10: 121,387,174 (GRCm39) |
N707S |
probably damaging |
Het |
| Tchhl1 |
A |
T |
3: 93,378,883 (GRCm39) |
H529L |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,960,633 (GRCm39) |
H106Q |
probably benign |
Het |
| Trim8 |
A |
G |
19: 46,491,214 (GRCm39) |
E111G |
probably benign |
Het |
| Tshz2 |
A |
G |
2: 169,725,794 (GRCm39) |
Y130C |
probably damaging |
Het |
| Txndc15 |
T |
A |
13: 55,865,978 (GRCm39) |
D147E |
probably benign |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,745 (GRCm39) |
L210H |
possibly damaging |
Het |
| Vmn1r55 |
A |
G |
7: 5,150,105 (GRCm39) |
V106A |
probably damaging |
Het |
| Vmn2r49 |
T |
A |
7: 9,720,214 (GRCm39) |
K426* |
probably null |
Het |
| Wnk2 |
C |
T |
13: 49,210,722 (GRCm39) |
R206Q |
probably damaging |
Het |
| Zfp1007 |
A |
T |
5: 109,824,941 (GRCm39) |
C170S |
possibly damaging |
Het |
| Zfp473 |
T |
C |
7: 44,383,988 (GRCm39) |
N115S |
probably benign |
Het |
| Zfp536 |
G |
T |
7: 37,269,161 (GRCm39) |
A85D |
probably damaging |
Het |
| Zfp853 |
C |
A |
5: 143,274,584 (GRCm39) |
Q345H |
unknown |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGTTTCACAGGCAGGAG -3'
(R):5'- CTGTGCTAATGTGTGCAAACAAAG -3'
Sequencing Primer
(F):5'- ATGGACTAGGTTGTACATTAGCC -3'
(R):5'- TGTGTGCAAACAAAGACCACACTG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation