Incidental Mutation 'R3913:Gpr179'
ID 309520
Institutional Source Beutler Lab
Gene Symbol Gpr179
Ensembl Gene ENSMUSG00000070337
Gene Name G protein-coupled receptor 179
Synonyms 5330439C02Rik
MMRRC Submission 040911-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R3913 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 97222935-97242903 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97225591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 2188 (V2188E)
Ref Sequence ENSEMBL: ENSMUSP00000091474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019026] [ENSMUST00000093942]
AlphaFold E9PY61
Predicted Effect probably benign
Transcript: ENSMUST00000019026
SMART Domains Protein: ENSMUSP00000019026
Gene: ENSMUSG00000018882

DomainStartEndE-ValueType
low complexity region 26 39 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
Tim44 118 266 3.7e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093942
AA Change: V2188E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: V2188E

DomainStartEndE-ValueType
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (59/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh7 T A 3: 137,927,541 (GRCm39) V29E probably damaging Het
Adra1d T A 2: 131,404,075 (GRCm39) D5V probably damaging Het
Arid1b A G 17: 5,392,532 (GRCm39) I2021V possibly damaging Het
Birc6 A T 17: 74,880,608 (GRCm39) R462* probably null Het
Cchcr1 T C 17: 35,836,233 (GRCm39) V341A probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Crybg1 T C 10: 43,874,759 (GRCm39) D783G possibly damaging Het
Dcaf15 T C 8: 84,825,794 (GRCm39) Y271C probably damaging Het
Dcun1d2 A C 8: 13,331,082 (GRCm39) M16R probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnttip2 T C 3: 122,069,040 (GRCm39) V85A possibly damaging Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Exoc7 T C 11: 116,197,731 (GRCm39) D27G probably benign Het
Gdpd5 A G 7: 99,087,546 (GRCm39) D70G probably null Het
Glyr1 A G 16: 4,849,777 (GRCm39) F199L probably damaging Het
Golga4 T A 9: 118,368,039 (GRCm39) M414K probably damaging Het
Gpr132 C A 12: 112,816,640 (GRCm39) W62L probably benign Het
Ilf3 C T 9: 21,309,422 (GRCm39) A526V possibly damaging Het
Ints10 T A 8: 69,266,272 (GRCm39) S478T probably damaging Het
Kcnab2 A G 4: 152,479,689 (GRCm39) V187A probably damaging Het
Kcnj15 C T 16: 95,097,329 (GRCm39) T317I probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhl30 T C 1: 91,287,166 (GRCm39) V484A possibly damaging Het
Krt90 G A 15: 101,471,218 (GRCm39) R15W probably damaging Het
Liph G T 16: 21,781,009 (GRCm39) probably benign Het
Lrrc7 G A 3: 157,997,589 (GRCm39) L158F probably damaging Het
Maml1 T C 11: 50,154,259 (GRCm39) T602A probably benign Het
Mast4 A G 13: 102,895,177 (GRCm39) L782P probably damaging Het
Mei4 A G 9: 81,772,316 (GRCm39) K43R probably benign Het
Mettl4 A G 17: 95,047,960 (GRCm39) V227A probably benign Het
Mst1r G A 9: 107,791,945 (GRCm39) R827Q probably benign Het
Olfm1 A G 2: 28,098,186 (GRCm39) T83A possibly damaging Het
Or1e30 G T 11: 73,678,522 (GRCm39) G253W probably damaging Het
Or5m10b T C 2: 85,699,115 (GRCm39) Y60H probably damaging Het
Parp4 A G 14: 56,857,975 (GRCm39) E869G probably damaging Het
Pate4 C A 9: 35,523,140 (GRCm39) M1I probably null Het
Patj A G 4: 98,457,338 (GRCm39) D1280G probably damaging Het
Ppargc1b T C 18: 61,444,447 (GRCm39) S255G probably damaging Het
Rev3l A G 10: 39,696,552 (GRCm39) I521M probably damaging Het
Rlim T C X: 103,006,267 (GRCm39) T545A probably benign Het
Robo2 A T 16: 73,831,893 (GRCm39) D262E probably damaging Het
Sec14l5 A G 16: 4,965,720 (GRCm39) probably benign Het
Sema4b A G 7: 79,870,222 (GRCm39) S467G probably benign Het
Setd2 C T 9: 110,380,114 (GRCm39) R1310C probably damaging Het
Sh3d19 T C 3: 85,992,083 (GRCm39) I37T probably damaging Het
Slc23a3 T A 1: 75,105,566 (GRCm39) I422F probably benign Het
Snap91 T C 9: 86,674,610 (GRCm39) T534A possibly damaging Het
Son A T 16: 91,456,999 (GRCm39) probably benign Het
Tnks A T 8: 35,340,228 (GRCm39) S463R probably damaging Het
Tubb3 A G 8: 124,147,748 (GRCm39) H227R possibly damaging Het
Tyw1 T A 5: 130,287,876 (GRCm39) V36D probably damaging Het
Vwa5a T C 9: 38,646,039 (GRCm39) I469T probably damaging Het
Zdhhc8 A G 16: 18,044,587 (GRCm39) L311P possibly damaging Het
Other mutations in Gpr179
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TTGGCTCCAGTCTCAAGCTC -3'
(R):5'- ATGTCATCAGGGCTCTTCACC -3'

Sequencing Primer
(F):5'- AGTCTCAAGCTCCAAAGGTTCTTG -3'
(R):5'- TCTTCACCCAGGAAGACGTG -3'
Posted On 2015-04-17