Incidental Mutation 'R9723:Gpr179'
ID 730939
Institutional Source Beutler Lab
Gene Symbol Gpr179
Ensembl Gene ENSMUSG00000070337
Gene Name G protein-coupled receptor 179
Synonyms 5330439C02Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R9723 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 97222935-97242903 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97225546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 2203 (L2203H)
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 possibly damaging
Transcript: ENSMUST00000093942
AA Change: L2203H

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: L2203H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 G A 1: 75,156,366 (GRCm39) R133W probably benign Het
Abcc3 T A 11: 94,250,725 (GRCm39) T877S probably benign Het
Alb A T 5: 90,611,962 (GRCm39) K130N probably damaging Het
Alkbh8 G A 9: 3,385,283 (GRCm39) S560N probably benign Het
Angel2 T G 1: 190,671,342 (GRCm39) L234R probably damaging Het
Catip C T 1: 74,403,745 (GRCm39) T154I probably benign Het
Ccdc163 C T 4: 116,569,595 (GRCm39) Q102* probably null Het
Cep250 A G 2: 155,823,337 (GRCm39) E997G probably benign Het
Ces2f T C 8: 105,677,463 (GRCm39) I183T possibly damaging Het
Commd8 A G 5: 72,318,309 (GRCm39) V158A possibly damaging Het
Cyp2b9 C T 7: 25,909,596 (GRCm39) Q455* probably null Het
D5Ertd579e G T 5: 36,772,284 (GRCm39) H704N probably damaging Het
Dnah1 T C 14: 30,987,946 (GRCm39) T3491A probably damaging Het
Dnai1 T G 4: 41,603,302 (GRCm39) F195C possibly damaging Het
Dock7 A G 4: 98,908,270 (GRCm39) V620A Het
Dock7 A T 4: 98,960,660 (GRCm39) D289E Het
Dpys T A 15: 39,691,509 (GRCm39) E271V probably damaging Het
Elovl3 T C 19: 46,123,155 (GRCm39) Y244H probably damaging Het
Enam G A 5: 88,652,241 (GRCm39) G1250E probably damaging Het
Espl1 C T 15: 102,229,170 (GRCm39) T1774M probably benign Het
Fasl T C 1: 161,615,535 (GRCm39) K107R probably benign Het
Fbn1 A T 2: 125,202,119 (GRCm39) C1251* probably null Het
Fn1 G T 1: 71,663,369 (GRCm39) Q1040K possibly damaging Het
Frem3 C T 8: 81,341,352 (GRCm39) S1215L probably benign Het
G3bp2 A T 5: 92,214,388 (GRCm39) D135E possibly damaging Het
Gabpb1 C T 2: 126,488,648 (GRCm39) V240I probably benign Het
Galnt12 C G 4: 47,119,541 (GRCm39) Y452* probably null Het
Ggta1 G T 2: 35,303,418 (GRCm39) D91E probably benign Het
Gm12258 C T 11: 58,750,448 (GRCm39) P541L unknown Het
Gm12789 T A 4: 101,846,083 (GRCm39) W115R possibly damaging Het
Gm8126 T C 14: 43,119,141 (GRCm39) probably null Het
H1f6 A G 13: 23,879,906 (GRCm39) K20E probably damaging Het
Hapln3 A T 7: 78,771,736 (GRCm39) V51E possibly damaging Het
Ifit1 A G 19: 34,626,257 (GRCm39) *464W probably null Het
Il1r1 A C 1: 40,332,721 (GRCm39) I137L probably benign Het
Il1rap T A 16: 26,442,907 (GRCm39) M1K probably null Het
Lgi2 A G 5: 52,695,843 (GRCm39) L372P probably damaging Het
Lrrc46 A G 11: 96,925,773 (GRCm39) S230P possibly damaging Het
Ltbr G A 6: 125,284,348 (GRCm39) R365W probably damaging Het
Mapk8ip3 C A 17: 25,132,585 (GRCm39) W339L possibly damaging Het
Msln A T 17: 25,969,008 (GRCm39) M459K possibly damaging Het
Msr1 A G 8: 40,042,357 (GRCm39) V406A possibly damaging Het
Ndst2 G T 14: 20,775,512 (GRCm39) D659E probably benign Het
Npat T A 9: 53,473,746 (GRCm39) S513T probably benign Het
Npat T G 9: 53,481,861 (GRCm39) L1190V probably damaging Het
Npc1 A G 18: 12,343,649 (GRCm39) I448T probably benign Het
Omd T C 13: 49,743,838 (GRCm39) F296S probably damaging Het
Oprm1 A G 10: 6,788,514 (GRCm39) N423S possibly damaging Het
Oxtr G A 6: 112,466,304 (GRCm39) T152I probably benign Het
Pak2 A T 16: 31,852,650 (GRCm39) V297E probably damaging Het
Pcnx4 T C 12: 72,603,039 (GRCm39) Y434H probably damaging Het
Pet100 G A 8: 3,672,374 (GRCm39) M20I probably damaging Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Plekhn1 A G 4: 156,306,875 (GRCm39) S505P probably benign Het
Plin5 G A 17: 56,423,290 (GRCm39) A90V probably damaging Het
Poc5 A G 13: 96,551,026 (GRCm39) T526A probably benign Het
Potefam1 T C 2: 111,058,700 (GRCm39) H84R probably damaging Het
Pramel7 C T 2: 87,320,019 (GRCm39) V425I possibly damaging Het
Rad51d A T 11: 82,781,162 (GRCm39) probably null Het
Rbp3 T C 14: 33,677,474 (GRCm39) M474T possibly damaging Het
Rcan3 A G 4: 135,152,680 (GRCm39) S14P probably benign Het
Rps6ka4 A T 19: 6,816,663 (GRCm39) V140E probably damaging Het
Rsbn1l G A 5: 21,101,464 (GRCm39) S692L possibly damaging Het
Sgk1 A T 10: 21,872,239 (GRCm39) I272F probably damaging Het
Skor1 A G 9: 63,053,714 (GRCm39) V85A probably damaging Het
Slc12a1 A T 2: 125,059,827 (GRCm39) D909V probably damaging Het
Slc25a18 C A 6: 120,770,489 (GRCm39) A283E probably benign Het
Slc41a1 T C 1: 131,772,103 (GRCm39) L411P possibly damaging Het
Spata13 T C 14: 60,928,498 (GRCm39) S19P probably damaging Het
Stab1 T A 14: 30,885,848 (GRCm39) H42L probably benign Het
Stag3 T A 5: 138,298,103 (GRCm39) D698E probably benign Het
Syngap1 G A 17: 27,189,510 (GRCm39) R1305H possibly damaging Het
Tek T G 4: 94,692,539 (GRCm39) W216G possibly damaging Het
Trappc9 A G 15: 72,461,963 (GRCm39) Y1101H possibly damaging Het
Ttn A G 2: 76,601,929 (GRCm39) Y10251H probably damaging Het
Uhrf1 A G 17: 56,625,061 (GRCm39) K535E probably damaging Het
Usp14 G T 18: 10,009,993 (GRCm39) Q185K probably damaging Het
Usp32 A T 11: 84,935,536 (GRCm39) Y413* probably null Het
Uvssa G A 5: 33,547,382 (GRCm39) probably null Het
Vmn1r177 A T 7: 23,565,774 (GRCm39) L34Q probably damaging Het
Wdr41 T C 13: 95,151,671 (GRCm39) L277P probably damaging Het
Zc2hc1b T A 10: 13,044,497 (GRCm39) L55F probably damaging Het
Zfp345 A C 2: 150,314,189 (GRCm39) Y449* probably null 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
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
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
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'- TAAGGTGAAAGACTCTGGAGCC -3'
(R):5'- TGGTCTTCATGGAGCAAGC -3'

Sequencing Primer
(F):5'- AAAGACTCTGGAGCCTCCGTTTC -3'
(R):5'- CCCAGGGAAAGGGCTAGC -3'
Posted On 2022-10-06