Incidental Mutation 'R8898:Gpr179'
| ID |
678190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr179
|
| Ensembl Gene |
ENSMUSG00000070337 |
| Gene Name |
G protein-coupled receptor 179 |
| Synonyms |
5330439C02Rik |
| MMRRC Submission |
068755-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R8898 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97222935-97242903 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 97242329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 172
(E172*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093942]
|
| AlphaFold |
E9PY61 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093942
AA Change: E172*
|
| SMART Domains |
Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: E172*
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,383,001 (GRCm39) |
L988* |
probably null |
Het |
| 4930546C10Rik |
A |
G |
18: 69,083,106 (GRCm39) |
F36S |
unknown |
Het |
| Acan |
C |
A |
7: 78,750,101 (GRCm39) |
T1624K |
possibly damaging |
Het |
| Ambn |
T |
C |
5: 88,613,051 (GRCm39) |
|
probably null |
Het |
| Ankrd24 |
T |
C |
10: 81,478,352 (GRCm39) |
I437T |
unknown |
Het |
| Arl4d |
C |
T |
11: 101,557,827 (GRCm39) |
R118W |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,306,721 (GRCm39) |
|
probably benign |
Het |
| Bcan |
T |
C |
3: 87,895,695 (GRCm39) |
T814A |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,492,498 (GRCm39) |
M3171K |
possibly damaging |
Het |
| Cd209a |
T |
A |
8: 3,798,739 (GRCm39) |
S23C |
probably damaging |
Het |
| Chek2 |
A |
T |
5: 111,011,175 (GRCm39) |
K324N |
probably benign |
Het |
| Col12a1 |
C |
T |
9: 79,599,577 (GRCm39) |
V859I |
probably benign |
Het |
| Cyp7b1 |
C |
T |
3: 18,150,788 (GRCm39) |
R317H |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,308,941 (GRCm39) |
S1937P |
probably benign |
Het |
| Epb41l1 |
T |
G |
2: 156,335,869 (GRCm39) |
V11G |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,858,822 (GRCm39) |
P3798L |
probably benign |
Het |
| Foxd1 |
T |
A |
13: 98,491,596 (GRCm39) |
C157S |
probably damaging |
Het |
| Gja10 |
T |
C |
4: 32,601,058 (GRCm39) |
Q442R |
probably benign |
Het |
| Gm17019 |
A |
C |
5: 15,081,798 (GRCm39) |
M47R |
possibly damaging |
Het |
| Grhl1 |
G |
A |
12: 24,634,945 (GRCm39) |
|
probably null |
Het |
| Gtf2ird2 |
A |
T |
5: 134,226,106 (GRCm39) |
E184V |
probably benign |
Het |
| Hace1 |
A |
G |
10: 45,576,766 (GRCm39) |
I813V |
probably benign |
Het |
| Hk2 |
A |
T |
6: 82,715,379 (GRCm39) |
L385Q |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,976,376 (GRCm39) |
T726I |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,145,206 (GRCm39) |
S916G |
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,935,175 (GRCm39) |
F396I |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,554,899 (GRCm39) |
M633T |
possibly damaging |
Het |
| Klf5 |
T |
A |
14: 99,538,922 (GRCm39) |
F112I |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,128,610 (GRCm39) |
Q2989L |
|
Het |
| Lrrc28 |
C |
A |
7: 67,278,042 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
T |
C |
12: 69,859,931 (GRCm39) |
T739A |
possibly damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,355,914 (GRCm39) |
R80* |
probably null |
Het |
| Mctp2 |
T |
C |
7: 71,752,904 (GRCm39) |
E783G |
probably damaging |
Het |
| Mill2 |
A |
T |
7: 18,590,489 (GRCm39) |
M190L |
probably benign |
Het |
| N4bp3 |
T |
C |
11: 51,535,256 (GRCm39) |
N311S |
probably benign |
Het |
| Nanos2 |
A |
T |
7: 18,721,549 (GRCm39) |
D7V |
probably damaging |
Het |
| Ndufs7 |
T |
A |
10: 80,089,619 (GRCm39) |
|
probably null |
Het |
| Nexn |
T |
C |
3: 151,948,306 (GRCm39) |
N483S |
probably benign |
Het |
| Nlrp1b |
T |
G |
11: 71,073,288 (GRCm39) |
E185A |
probably damaging |
Het |
| Nop2 |
C |
A |
6: 125,114,118 (GRCm39) |
Q195K |
probably benign |
Het |
| Or4a15 |
A |
G |
2: 89,192,957 (GRCm39) |
V272A |
possibly damaging |
Het |
| Or4n4 |
G |
A |
14: 50,518,952 (GRCm39) |
P253S |
probably damaging |
Het |
| Pde12 |
G |
A |
14: 26,390,577 (GRCm39) |
S44L |
probably benign |
Het |
| Pde1c |
A |
T |
6: 56,114,371 (GRCm39) |
V514E |
probably damaging |
Het |
| Pdzph1 |
A |
T |
17: 59,281,334 (GRCm39) |
V316D |
probably benign |
Het |
| Prl3c1 |
A |
T |
13: 27,387,578 (GRCm39) |
I208F |
possibly damaging |
Het |
| Raver2 |
G |
A |
4: 100,964,399 (GRCm39) |
|
probably null |
Het |
| Rpl13a-ps1 |
T |
A |
19: 50,018,747 (GRCm39) |
H143L |
probably benign |
Het |
| Septin14 |
A |
T |
5: 129,760,642 (GRCm39) |
I402K |
possibly damaging |
Het |
| Sla2 |
T |
A |
2: 156,717,885 (GRCm39) |
Y129F |
possibly damaging |
Het |
| Smarca2 |
TGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCA |
19: 26,608,358 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,911,567 (GRCm39) |
S1448P |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,695,273 (GRCm39) |
R604H |
probably damaging |
Het |
| Speg |
G |
A |
1: 75,365,517 (GRCm39) |
G633S |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Syt11 |
T |
C |
3: 88,669,335 (GRCm39) |
M186V |
probably benign |
Het |
| Tex26 |
C |
A |
5: 149,380,369 (GRCm39) |
N133K |
probably benign |
Het |
| Tnfrsf17 |
T |
C |
16: 11,131,910 (GRCm39) |
C32R |
probably damaging |
Het |
| Trem1 |
T |
A |
17: 48,544,374 (GRCm39) |
V133E |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,664,661 (GRCm39) |
M906K |
possibly damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,159,189 (GRCm39) |
I461K |
possibly damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,430 (GRCm39) |
C28S |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,522,525 (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 |
|
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 |
|
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'- TCATGACATTCCAGGAAAGGGG -3'
(R):5'- GCTGCCAACTTTCTCAACATG -3'
Sequencing Primer
(F):5'- GGAGATAGCTTCACCTGCTG -3'
(R):5'- ACTTTCTCAACATGCTCCTACAAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation