Incidental Mutation 'IGL03208:Gpr75'
ID 413192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr75
Ensembl Gene ENSMUSG00000043999
Gene Name G protein-coupled receptor 75
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL03208
Quality Score
Status
Chromosome 11
Chromosomal Location 30885358-30893729 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30892699 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 535 (I535F)
Ref Sequence ENSEMBL: ENSMUSP00000105057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109430] [ENSMUST00000203878]
AlphaFold Q6X632
Predicted Effect probably damaging
Transcript: ENSMUST00000109430
AA Change: I535F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105057
Gene: ENSMUSG00000043999
AA Change: I535F

DomainStartEndE-ValueType
Pfam:7tm_1 59 376 1.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203878
SMART Domains Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
ANK 48 77 3.5e-2 SMART
ANK 81 110 8e-3 SMART
ANK 117 146 4.8e-5 SMART
ANK 150 179 1.7e-7 SMART
ANK 184 213 1.8e-4 SMART
ANK 217 246 1.8e-6 SMART
ANK 250 279 1.2e-7 SMART
ANK 285 315 1.1e0 SMART
ANK 318 347 1.2e-3 SMART
ANK 354 385 7.7e-1 SMART
SOCS 493 542 2.8e-4 SMART
SOCS_box 499 541 1.6e-17 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GPR75 is a member of the G protein-coupled receptor family. GPRs are cell surface receptors that activate guanine-nucleotide binding proteins upon the binding of a ligand.[supplied by OMIM, Jul 2002]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 T C 4: 40,186,424 V612A possibly damaging Het
Cd72 T A 4: 43,452,337 T195S probably damaging Het
Cluh C A 11: 74,669,506 probably null Het
Cntn3 T C 6: 102,187,099 Y882C probably damaging Het
Ctnnal1 T A 4: 56,813,833 K645N probably benign Het
Entpd6 T A 2: 150,768,918 Y385N probably damaging Het
Epha3 T C 16: 63,611,089 Y484C probably damaging Het
Exo1 G A 1: 175,896,245 A386T probably benign Het
Fam149b T C 14: 20,351,302 probably benign Het
Fastkd2 G A 1: 63,739,206 E413K probably damaging Het
Fbxl3 A T 14: 103,082,940 L405* probably null Het
Irf2 A C 8: 46,807,305 I53L probably damaging Het
Lca5l T C 16: 96,178,846 E28G probably damaging Het
Mon2 A G 10: 123,018,069 probably benign Het
Olfr419 A G 1: 174,250,393 F178S probably damaging Het
Olfr503 T C 7: 108,545,119 V196A probably benign Het
Plekhm1 T C 11: 103,376,770 K792E probably benign Het
Ppp1r14c A T 10: 3,423,531 D114V probably damaging Het
Rnf20 G T 4: 49,645,706 probably benign Het
Srgap1 G A 10: 121,792,266 P934S possibly damaging Het
Sult2b1 T C 7: 45,733,629 E243G probably damaging Het
Tecta A G 9: 42,337,100 probably benign Het
Tshr T C 12: 91,533,942 L147P probably damaging Het
Vmn1r67 T A 7: 10,447,098 S96R possibly damaging Het
Other mutations in Gpr75
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Gpr75 APN 11 30891590 missense probably damaging 1.00
IGL00787:Gpr75 APN 11 30892290 missense probably benign 0.00
IGL01102:Gpr75 APN 11 30891755 missense probably benign 0.41
IGL01790:Gpr75 APN 11 30891132 missense probably damaging 0.97
IGL01975:Gpr75 APN 11 30891835 missense probably benign 0.09
IGL02266:Gpr75 APN 11 30891977 missense probably benign 0.01
IGL02338:Gpr75 APN 11 30891730 missense probably benign 0.00
IGL02394:Gpr75 APN 11 30892190 missense possibly damaging 0.92
Thinner UTSW 11 30891527 missense probably damaging 1.00
R0053:Gpr75 UTSW 11 30892571 missense possibly damaging 0.71
R0053:Gpr75 UTSW 11 30892571 missense possibly damaging 0.71
R0449:Gpr75 UTSW 11 30892456 missense probably damaging 0.99
R1289:Gpr75 UTSW 11 30892706 missense probably benign 0.23
R1760:Gpr75 UTSW 11 30891527 missense probably damaging 1.00
R3123:Gpr75 UTSW 11 30891709 missense possibly damaging 0.82
R4669:Gpr75 UTSW 11 30892072 missense probably damaging 1.00
R4704:Gpr75 UTSW 11 30891110 missense probably benign
R4809:Gpr75 UTSW 11 30892154 missense possibly damaging 0.74
R4913:Gpr75 UTSW 11 30891808 missense possibly damaging 0.85
R4982:Gpr75 UTSW 11 30891462 missense probably damaging 1.00
R4982:Gpr75 UTSW 11 30891463 missense possibly damaging 0.96
R5071:Gpr75 UTSW 11 30892380 missense probably damaging 1.00
R5318:Gpr75 UTSW 11 30892459 missense probably benign 0.00
R6019:Gpr75 UTSW 11 30891640 missense probably benign 0.39
R6199:Gpr75 UTSW 11 30891527 missense probably damaging 1.00
R6455:Gpr75 UTSW 11 30891529 missense probably damaging 1.00
R7188:Gpr75 UTSW 11 30892687 missense probably damaging 1.00
R7826:Gpr75 UTSW 11 30891209 missense probably damaging 0.99
R8053:Gpr75 UTSW 11 30891559 missense probably benign 0.25
R8703:Gpr75 UTSW 11 30891890 missense probably damaging 0.99
R8870:Gpr75 UTSW 11 30891860 missense probably benign 0.00
R8930:Gpr75 UTSW 11 30892571 missense possibly damaging 0.71
R8932:Gpr75 UTSW 11 30892571 missense possibly damaging 0.71
Z1088:Gpr75 UTSW 11 30891139 missense probably benign 0.11
Posted On 2016-08-02