Incidental Mutation 'IGL03355:Gpr179'
ID419893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr179
Ensembl Gene ENSMUSG00000070337
Gene NameG protein-coupled receptor 179
Synonyms5330439C02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.145) question?
Stock #IGL03355
Quality Score
Status
Chromosome11
Chromosomal Location97332109-97352077 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 97337608 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 1240 (S1240R)
Ref Sequence ENSEMBL: ENSMUSP00000091474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093942]
Predicted Effect possibly damaging
Transcript: ENSMUST00000093942
AA Change: S1240R

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: S1240R

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610002M06Rik C A X: 107,788,283 V180F possibly damaging Het
Actrt1 T C X: 46,329,747 V213A probably benign Het
Adam28 A T 14: 68,634,803 probably benign Het
Apeh T C 9: 108,086,445 H557R probably benign Het
Atmin T A 8: 116,957,425 L608* probably null Het
B3gnt5 A T 16: 19,769,153 M41L probably benign Het
Best3 T C 10: 116,993,105 F97L possibly damaging Het
Col7a1 G A 9: 108,978,160 V2486M unknown Het
Crym T C 7: 120,199,313 probably null Het
Cubn T C 2: 13,478,057 probably null Het
Dnah7b A G 1: 46,119,304 D349G probably benign Het
Eea1 T C 10: 96,042,212 probably benign Het
Emc1 C T 4: 139,371,593 probably benign Het
Eps8 T C 6: 137,512,145 probably benign Het
Ereg A G 5: 91,088,581 probably benign Het
Faah G A 4: 116,002,528 P369S probably benign Het
Fam135a A T 1: 24,029,168 N703K possibly damaging Het
Frmpd1 T C 4: 45,279,140 S622P probably damaging Het
Gm10030 A G 9: 111,006,773 noncoding transcript Het
Hax1 A T 3: 89,997,447 H146Q possibly damaging Het
Ift46 A G 9: 44,782,148 N31D possibly damaging Het
Kel C T 6: 41,698,887 probably null Het
Khk A T 5: 30,929,560 I108L probably benign Het
Morc4 T C X: 139,849,682 N375S probably null Het
Mta3 A T 17: 83,800,045 probably benign Het
Nacc2 T C 2: 26,062,237 K369R probably damaging Het
Nkap T C X: 37,139,670 probably benign Het
Obscn A T 11: 59,037,792 L6016Q probably damaging Het
Olfr25 A T 9: 38,329,656 Q20L probably benign Het
Olfr589 T C 7: 103,155,201 E182G probably damaging Het
Pde4c T A 8: 70,746,595 L182Q probably damaging Het
Pla2g10 G T 16: 13,730,420 probably null Het
Rap1gap2 T A 11: 74,412,344 I426F probably damaging Het
Rbm33 C A 5: 28,391,061 probably benign Het
Rnf139 C A 15: 58,900,032 D635E probably benign Het
Sar1a T C 10: 61,684,939 V15A possibly damaging Het
Scarb1 A C 5: 125,289,702 S56A probably benign Het
Scn3a T C 2: 65,460,568 K1945E possibly damaging Het
Sec62 G A 3: 30,809,922 G118R unknown Het
Sgce T A 6: 4,689,738 Q356L probably damaging Het
Slco4c1 A T 1: 96,842,507 Y277* probably null Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Sphkap A T 1: 83,280,503 I173N probably damaging Het
Spred3 C T 7: 29,161,572 C394Y unknown Het
Stra6l A G 4: 45,873,689 D283G probably benign Het
Tipin A T 9: 64,288,124 Q4L probably benign Het
Tmprss11c T A 5: 86,231,871 I380F probably benign Het
Tymp T C 15: 89,375,016 D195G possibly damaging Het
Ugt2b34 T A 5: 86,906,685 Y79F probably benign Het
Vmn2r16 T A 5: 109,363,714 S596T possibly damaging Het
Wdhd1 A G 14: 47,243,889 S1024P possibly damaging Het
Other mutations in Gpr179
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Gpr179 APN 11 97337801 missense probably damaging 0.99
IGL01152:Gpr179 APN 11 97337411 missense probably benign 0.08
IGL01402:Gpr179 APN 11 97338186 nonsense probably null
IGL01404:Gpr179 APN 11 97338186 nonsense probably null
IGL01773:Gpr179 APN 11 97341366 missense probably benign 0.05
IGL02682:Gpr179 APN 11 97351865 missense probably benign
IGL02728:Gpr179 APN 11 97337900 missense probably damaging 0.99
IGL03243:Gpr179 APN 11 97351475 missense probably benign 0.02
IGL03272:Gpr179 APN 11 97336593 missense possibly damaging 0.89
IGL03347:Gpr179 APN 11 97351838 missense probably damaging 1.00
PIT4280001:Gpr179 UTSW 11 97344115 missense probably damaging 1.00
PIT4366001:Gpr179 UTSW 11 97336851 missense probably benign
R0042:Gpr179 UTSW 11 97334931 missense probably benign 0.04
R0042:Gpr179 UTSW 11 97334931 missense probably benign 0.04
R0080:Gpr179 UTSW 11 97351469 missense probably benign 0.08
R0255:Gpr179 UTSW 11 97336066 missense probably benign 0.24
R0412:Gpr179 UTSW 11 97338807 missense probably damaging 1.00
R0481:Gpr179 UTSW 11 97349718 missense probably damaging 1.00
R0612:Gpr179 UTSW 11 97338438 missense possibly damaging 0.86
R0786:Gpr179 UTSW 11 97343274 missense probably damaging 1.00
R1753:Gpr179 UTSW 11 97346578 missense probably damaging 1.00
R1761:Gpr179 UTSW 11 97335106 missense probably benign 0.00
R1796:Gpr179 UTSW 11 97336556 missense possibly damaging 0.86
R1969:Gpr179 UTSW 11 97337958 missense probably benign
R2240:Gpr179 UTSW 11 97351733 missense probably damaging 1.00
R3855:Gpr179 UTSW 11 97341434 missense probably damaging 1.00
R3913:Gpr179 UTSW 11 97334765 missense probably benign 0.01
R4484:Gpr179 UTSW 11 97335711 missense probably benign 0.28
R4806:Gpr179 UTSW 11 97349784 missense possibly damaging 0.55
R4816:Gpr179 UTSW 11 97339248 missense probably damaging 0.99
R4906:Gpr179 UTSW 11 97346661 missense possibly damaging 0.87
R4945:Gpr179 UTSW 11 97349718 missense probably damaging 1.00
R5191:Gpr179 UTSW 11 97338149 missense possibly damaging 0.76
R5273:Gpr179 UTSW 11 97347430 missense probably damaging 1.00
R5317:Gpr179 UTSW 11 97337845 missense probably damaging 1.00
R5459:Gpr179 UTSW 11 97336657 missense probably benign 0.00
R5507:Gpr179 UTSW 11 97338330 missense probably damaging 1.00
R5523:Gpr179 UTSW 11 97336782 missense probably benign 0.37
R5536:Gpr179 UTSW 11 97343815 missense probably damaging 1.00
R5591:Gpr179 UTSW 11 97345755 missense probably benign 0.17
R5679:Gpr179 UTSW 11 97336745 missense probably benign 0.20
R5738:Gpr179 UTSW 11 97351406 missense probably damaging 1.00
R5829:Gpr179 UTSW 11 97335698 missense probably benign 0.11
R5836:Gpr179 UTSW 11 97339056 missense probably benign 0.03
R6007:Gpr179 UTSW 11 97335802 nonsense probably null
R6047:Gpr179 UTSW 11 97338416 missense probably damaging 1.00
R6339:Gpr179 UTSW 11 97344176 missense probably damaging 1.00
R6383:Gpr179 UTSW 11 97337147 missense possibly damaging 0.88
R6674:Gpr179 UTSW 11 97347405 critical splice donor site probably null
R6712:Gpr179 UTSW 11 97336167 missense possibly damaging 0.94
R6835:Gpr179 UTSW 11 97347467 missense probably damaging 1.00
R6980:Gpr179 UTSW 11 97334858 missense probably benign 0.38
R7044:Gpr179 UTSW 11 97349790 missense probably benign 0.19
R7121:Gpr179 UTSW 11 97334730 missense probably benign 0.00
R7307:Gpr179 UTSW 11 97338846 missense probably benign 0.36
R7406:Gpr179 UTSW 11 97351594 missense probably damaging 0.99
R7467:Gpr179 UTSW 11 97335289 missense probably benign 0.02
R7477:Gpr179 UTSW 11 97335839 missense possibly damaging 0.87
R7725:Gpr179 UTSW 11 97351292 missense probably damaging 1.00
X0065:Gpr179 UTSW 11 97347438 missense probably benign 0.08
Posted On2016-08-02