Incidental Mutation 'R6383:Gpr179'
| ID |
515457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr179
|
| Ensembl Gene |
ENSMUSG00000070337 |
| Gene Name |
G protein-coupled receptor 179 |
| Synonyms |
5330439C02Rik |
| MMRRC Submission |
044532-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6383 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97222935-97242903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97227973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1394
(V1394A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093942]
|
| AlphaFold |
E9PY61 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093942
AA Change: V1394A
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: V1394A
| 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: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
97% (73/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,286,343 (GRCm39) |
M2497K |
probably benign |
Het |
| Abtb2 |
C |
T |
2: 103,397,721 (GRCm39) |
T217I |
probably damaging |
Het |
| Adam29 |
T |
A |
8: 56,324,543 (GRCm39) |
N637I |
probably damaging |
Het |
| Adgb |
T |
A |
10: 10,325,772 (GRCm39) |
E59V |
probably damaging |
Het |
| Adh7 |
C |
T |
3: 137,933,778 (GRCm39) |
R312C |
probably benign |
Het |
| Adprh |
A |
G |
16: 38,267,814 (GRCm39) |
I157T |
probably damaging |
Het |
| Ap2b1 |
T |
C |
11: 83,237,651 (GRCm39) |
S572P |
probably damaging |
Het |
| Asic1 |
T |
C |
15: 99,596,761 (GRCm39) |
L519P |
probably damaging |
Het |
| Atp2a2 |
G |
C |
5: 122,639,712 (GRCm39) |
L13V |
probably benign |
Het |
| Bst2 |
A |
T |
8: 71,989,932 (GRCm39) |
I47N |
possibly damaging |
Het |
| Cacng6 |
G |
A |
7: 3,473,509 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,957,289 (GRCm39) |
E1849G |
probably damaging |
Het |
| Cep295 |
T |
A |
9: 15,244,050 (GRCm39) |
T213S |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,039,127 (GRCm39) |
T406A |
probably benign |
Het |
| Chmp4c |
G |
T |
3: 10,432,277 (GRCm39) |
K62N |
probably damaging |
Het |
| Cldn15 |
A |
G |
5: 136,996,979 (GRCm39) |
T7A |
probably benign |
Het |
| Cmpk2 |
T |
A |
12: 26,528,019 (GRCm39) |
M412K |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,453,705 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
C |
2: 13,432,646 (GRCm39) |
|
probably null |
Het |
| Dop1b |
T |
C |
16: 93,579,136 (GRCm39) |
V1668A |
possibly damaging |
Het |
| Erg28 |
T |
A |
12: 85,863,203 (GRCm39) |
Y77F |
probably damaging |
Het |
| F830045P16Rik |
C |
T |
2: 129,378,358 (GRCm39) |
A9T |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,898,140 (GRCm39) |
D740G |
probably damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gpat3 |
A |
T |
5: 101,041,010 (GRCm39) |
M357L |
probably benign |
Het |
| Grn |
T |
A |
11: 102,327,621 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
G |
A |
17: 35,647,359 (GRCm39) |
|
probably null |
Het |
| Igsf3 |
A |
G |
3: 101,342,964 (GRCm39) |
T514A |
probably benign |
Het |
| Il1r1 |
A |
G |
1: 40,352,495 (GRCm39) |
D558G |
possibly damaging |
Het |
| Irx4 |
T |
C |
13: 73,415,832 (GRCm39) |
M207T |
possibly damaging |
Het |
| Kap |
T |
C |
6: 133,828,920 (GRCm39) |
I54V |
probably benign |
Het |
| Kdm2b |
G |
A |
5: 123,072,841 (GRCm39) |
R340C |
probably damaging |
Het |
| Lipo3 |
T |
A |
19: 33,533,831 (GRCm39) |
M334L |
probably benign |
Het |
| Lmbrd1 |
C |
T |
1: 24,745,115 (GRCm39) |
L152F |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,666,452 (GRCm39) |
V1382I |
probably damaging |
Het |
| Map3k4 |
C |
T |
17: 12,468,470 (GRCm39) |
D1008N |
possibly damaging |
Het |
| Mcf2l |
T |
C |
8: 12,929,912 (GRCm39) |
|
probably benign |
Het |
| Mecom |
T |
G |
3: 30,051,875 (GRCm39) |
D180A |
probably damaging |
Het |
| Meis1 |
T |
C |
11: 18,891,741 (GRCm39) |
D269G |
probably benign |
Het |
| Myh7 |
A |
C |
14: 55,226,351 (GRCm39) |
S430A |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,474,325 (GRCm39) |
I439V |
probably damaging |
Het |
| Nat1 |
T |
C |
8: 67,944,134 (GRCm39) |
V170A |
possibly damaging |
Het |
| Nlrp12 |
A |
G |
7: 3,282,673 (GRCm39) |
L742P |
probably damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,069,052 (GRCm39) |
T318A |
probably benign |
Het |
| Or4d10 |
T |
A |
19: 12,051,727 (GRCm39) |
I90F |
probably damaging |
Het |
| Or4k47 |
T |
A |
2: 111,451,531 (GRCm39) |
N296I |
probably benign |
Het |
| Or51ai2 |
A |
G |
7: 103,587,030 (GRCm39) |
I148V |
probably benign |
Het |
| Or8g33 |
G |
T |
9: 39,337,530 (GRCm39) |
T279N |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,926 (GRCm39) |
L32Q |
probably damaging |
Het |
| Otop3 |
A |
G |
11: 115,235,898 (GRCm39) |
E529G |
probably damaging |
Het |
| Parp6 |
T |
C |
9: 59,531,222 (GRCm39) |
Y35H |
probably damaging |
Het |
| Pcdhb4 |
A |
C |
18: 37,441,074 (GRCm39) |
D128A |
probably damaging |
Het |
| Phldb2 |
C |
T |
16: 45,569,113 (GRCm39) |
D1249N |
probably damaging |
Het |
| Pramel30 |
A |
T |
4: 144,059,717 (GRCm39) |
*476L |
probably null |
Het |
| Ptpn12 |
T |
A |
5: 21,192,466 (GRCm39) |
K765* |
probably null |
Het |
| Ptprb |
T |
A |
10: 116,182,912 (GRCm39) |
Y1529* |
probably null |
Het |
| Ptprc |
A |
T |
1: 138,006,189 (GRCm39) |
Y798N |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,723,091 (GRCm39) |
T1300I |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,355,288 (GRCm39) |
I555T |
probably benign |
Het |
| Sptbn2 |
G |
A |
19: 4,782,524 (GRCm39) |
V487I |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,876,750 (GRCm39) |
|
probably benign |
Het |
| Srpk1 |
A |
G |
17: 28,809,036 (GRCm39) |
S648P |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,496,888 (GRCm39) |
|
probably null |
Het |
| Tmem135 |
A |
T |
7: 88,793,878 (GRCm39) |
I388N |
probably damaging |
Het |
| Top3a |
A |
T |
11: 60,640,285 (GRCm39) |
I446N |
probably benign |
Het |
| Trpv1 |
T |
C |
11: 73,136,862 (GRCm39) |
S482P |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,306,541 (GRCm39) |
A230V |
probably benign |
Het |
| Vmn2r15 |
A |
C |
5: 109,441,092 (GRCm39) |
Y255* |
probably null |
Het |
| Vmn2r60 |
A |
G |
7: 41,765,895 (GRCm39) |
M1V |
probably null |
Het |
| Vmn2r87 |
A |
G |
10: 130,314,869 (GRCm39) |
V239A |
probably damaging |
Het |
| Vwce |
T |
A |
19: 10,636,956 (GRCm39) |
C679* |
probably null |
Het |
| Zfp385b |
C |
T |
2: 77,246,185 (GRCm39) |
A281T |
probably benign |
Het |
| Zfp398 |
T |
G |
6: 47,843,529 (GRCm39) |
L395W |
probably damaging |
Het |
| Zfp442 |
C |
T |
2: 150,293,321 (GRCm39) |
|
probably null |
Het |
| Zfp606 |
A |
G |
7: 12,226,871 (GRCm39) |
S331G |
probably benign |
Het |
| Zfp882 |
A |
G |
8: 72,668,484 (GRCm39) |
H437R |
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 |
|
|
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 |
|
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'- GACAGACCTCAGCTTTCTTGTC -3'
(R):5'- GGTCTGTCTCCTCAATTAGTGC -3'
Sequencing Primer
(F):5'- TGGGCATACCTCCGCAATAC -3'
(R):5'- GTCTCCTCAATTAGTGCATCAGGAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation