Incidental Mutation 'R5523:Gpr179'
| ID |
431698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr179
|
| Ensembl Gene |
ENSMUSG00000070337 |
| Gene Name |
G protein-coupled receptor 179 |
| Synonyms |
5330439C02Rik |
| MMRRC Submission |
043265-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R5523 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
97222935-97242903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97227608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 1516
(R1516G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093942]
|
| AlphaFold |
E9PY61 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093942
AA Change: R1516G
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: R1516G
| 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 |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
G |
A |
3: 153,644,273 (GRCm39) |
T70M |
probably benign |
Het |
| Adamtsl3 |
G |
A |
7: 82,223,650 (GRCm39) |
A218T |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,741,642 (GRCm39) |
D810G |
probably damaging |
Het |
| Ak7 |
T |
A |
12: 105,707,341 (GRCm39) |
L315* |
probably null |
Het |
| Apoa5 |
T |
C |
9: 46,181,887 (GRCm39) |
F321S |
possibly damaging |
Het |
| Baiap2l1 |
G |
C |
5: 144,212,768 (GRCm39) |
P416A |
probably damaging |
Het |
| Bco1 |
A |
G |
8: 117,835,432 (GRCm39) |
I128V |
possibly damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,717,905 (GRCm39) |
|
probably benign |
Het |
| Cdt1 |
G |
A |
8: 123,294,832 (GRCm39) |
R13H |
possibly damaging |
Het |
| Cenpj |
A |
G |
14: 56,789,880 (GRCm39) |
V723A |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,685,675 (GRCm39) |
W849R |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,267,192 (GRCm39) |
D169G |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,772 (GRCm39) |
V334A |
probably damaging |
Het |
| Cyp4f39 |
C |
A |
17: 32,689,807 (GRCm39) |
N84K |
probably benign |
Het |
| Cyp4f40 |
T |
A |
17: 32,888,796 (GRCm39) |
F192I |
probably damaging |
Het |
| Disp3 |
T |
C |
4: 148,342,554 (GRCm39) |
D632G |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Echs1 |
G |
T |
7: 139,692,426 (GRCm39) |
T107K |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Ergic1 |
G |
A |
17: 26,843,580 (GRCm39) |
V17I |
probably damaging |
Het |
| Fank1 |
G |
T |
7: 133,478,569 (GRCm39) |
C210F |
probably damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,978,194 (GRCm39) |
M136R |
probably damaging |
Het |
| Ggcx |
C |
A |
6: 72,401,017 (GRCm39) |
P240H |
probably damaging |
Het |
| Gprin3 |
G |
A |
6: 59,330,931 (GRCm39) |
Q459* |
probably null |
Het |
| Hadha |
C |
A |
5: 30,350,252 (GRCm39) |
V99F |
possibly damaging |
Het |
| Hirip3 |
A |
G |
7: 126,463,034 (GRCm39) |
D330G |
possibly damaging |
Het |
| Irx2 |
T |
C |
13: 72,779,714 (GRCm39) |
W333R |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,841,271 (GRCm39) |
T10A |
probably benign |
Het |
| Kcnd2 |
T |
C |
6: 21,723,211 (GRCm39) |
I467T |
probably benign |
Het |
| Klc3 |
A |
T |
7: 19,130,932 (GRCm39) |
I215N |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,504,337 (GRCm39) |
V3657A |
probably benign |
Het |
| Lin28b |
A |
T |
10: 45,345,164 (GRCm39) |
L54* |
probably null |
Het |
| Mgll |
T |
C |
6: 88,702,743 (GRCm39) |
V14A |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,234,408 (GRCm39) |
N976S |
probably benign |
Het |
| Myh8 |
C |
A |
11: 67,196,788 (GRCm39) |
A1807E |
possibly damaging |
Het |
| Nalcn |
G |
A |
14: 123,647,155 (GRCm39) |
P573S |
probably damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Neb |
T |
C |
2: 52,168,827 (GRCm39) |
S1903G |
probably benign |
Het |
| Nfe2 |
T |
A |
15: 103,157,556 (GRCm39) |
D145V |
probably damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,687 (GRCm39) |
Y295* |
probably null |
Het |
| Padi1 |
A |
T |
4: 140,542,164 (GRCm39) |
V586D |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,416,192 (GRCm39) |
D311G |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,145,439 (GRCm39) |
H510L |
probably damaging |
Het |
| Plcb1 |
C |
A |
2: 135,102,486 (GRCm39) |
P221H |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,069,856 (GRCm39) |
V58E |
probably damaging |
Het |
| Pparg |
A |
C |
6: 115,467,032 (GRCm39) |
Q435P |
probably damaging |
Het |
| Ppp1r36 |
A |
G |
12: 76,484,892 (GRCm39) |
T282A |
possibly damaging |
Het |
| Prcd |
T |
C |
11: 116,559,110 (GRCm39) |
|
probably benign |
Het |
| Pygo1 |
A |
T |
9: 72,852,266 (GRCm39) |
H151L |
possibly damaging |
Het |
| Rnmt |
A |
G |
18: 68,446,773 (GRCm39) |
Y266C |
probably benign |
Het |
| Rxrb |
T |
C |
17: 34,255,411 (GRCm39) |
V246A |
probably damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,704 (GRCm39) |
S378P |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,865,390 (GRCm39) |
N318S |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,798,754 (GRCm39) |
V1765I |
probably benign |
Het |
| Slc17a6 |
A |
T |
7: 51,276,598 (GRCm39) |
K116* |
probably null |
Het |
| Smc6 |
T |
A |
12: 11,341,540 (GRCm39) |
H519Q |
probably benign |
Het |
| Sowahc |
T |
A |
10: 59,058,785 (GRCm39) |
M307K |
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,087,560 (GRCm39) |
Y960H |
probably damaging |
Het |
| Tmem270 |
A |
C |
5: 134,931,636 (GRCm39) |
V102G |
probably benign |
Het |
| Tmprss11d |
A |
G |
5: 86,486,729 (GRCm39) |
F54L |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,544,695 (GRCm39) |
Y270* |
probably null |
Het |
| Trpm2 |
A |
G |
10: 77,771,795 (GRCm39) |
F615L |
probably benign |
Het |
| Ttf2 |
A |
G |
3: 100,866,558 (GRCm39) |
S525P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,777,241 (GRCm39) |
M1387K |
possibly damaging |
Het |
| Upk3bl |
A |
T |
5: 136,088,954 (GRCm39) |
R156W |
probably damaging |
Het |
| Usp34 |
G |
T |
11: 23,299,198 (GRCm39) |
R290L |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,620,005 (GRCm39) |
V1561A |
|
Het |
| Zan |
A |
G |
5: 137,420,155 (GRCm39) |
I2834T |
unknown |
Het |
| Zfp105 |
A |
G |
9: 122,755,454 (GRCm39) |
Y90C |
probably benign |
Het |
| Zfp804a |
T |
C |
2: 82,089,339 (GRCm39) |
V1056A |
probably damaging |
Het |
| Zfp956 |
A |
T |
6: 47,930,455 (GRCm39) |
|
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 |
|
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'- TGACTGCTTCCCAAGGACAC -3'
(R):5'- TCACTTCAAGCCCCAGGAAG -3'
Sequencing Primer
(F):5'- AGGACACACTTGCAGTACCTGG -3'
(R):5'- CCCAGGAAGCTCAGGTAGTTTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation