Incidental Mutation 'IGL02932:Gpr143'
ID 364166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr143
Ensembl Gene ENSMUSG00000025333
Gene Name G protein-coupled receptor 143
Synonyms Oa1
Accession Numbers
Essential gene? Not available question?
Stock # IGL02932
Quality Score
Status
Chromosome X
Chromosomal Location 151564917-151591642 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 151576439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026383]
AlphaFold P70259
Predicted Effect probably benign
Transcript: ENSMUST00000026383
SMART Domains Protein: ENSMUSP00000026383
Gene: ENSMUSG00000025333

DomainStartEndE-ValueType
Pfam:Ocular_alb 1 397 4.1e-227 PFAM
Pfam:7tm_2 69 274 1.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151819
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 protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009]
PHENOTYPE: Hemizygous males exhibit hypopigmentation of the ocular fundus, misrouting of the optic fibers at the chiasm, and the presence of giant melanosomes in the pigment epithelium of the eye. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 T A 9: 9,115,709 (GRCm39) E122D probably damaging Het
Asb3 G A 11: 30,979,067 (GRCm39) probably null Het
Avl9 T C 6: 56,713,536 (GRCm39) S265P probably benign Het
Cep44 C T 8: 57,000,459 (GRCm39) R18Q probably damaging Het
Clec10a T C 11: 70,060,554 (GRCm39) probably benign Het
Cog4 A G 8: 111,579,065 (GRCm39) I115V probably benign Het
Coq3 C T 4: 21,900,430 (GRCm39) A219V probably benign Het
Cry2 G A 2: 92,243,462 (GRCm39) R460* probably null Het
Ddx39b A G 17: 35,472,337 (GRCm39) probably benign Het
Dhx40 G A 11: 86,662,755 (GRCm39) R646C probably damaging Het
Ears2 G A 7: 121,662,284 (GRCm39) R55C probably damaging Het
Eif3m C T 2: 104,845,214 (GRCm39) G26R probably damaging Het
Exo5 A G 4: 120,779,742 (GRCm39) L41P probably benign Het
Fut10 A G 8: 31,749,965 (GRCm39) H417R probably damaging Het
Gars1 T A 6: 55,037,929 (GRCm39) L296Q probably damaging Het
Htr1b C A 9: 81,513,689 (GRCm39) R306L probably damaging Het
Lama3 G A 18: 12,661,858 (GRCm39) A2185T probably damaging Het
Mbd5 C A 2: 49,169,460 (GRCm39) Q1544K possibly damaging Het
Mccc1 T C 3: 36,014,178 (GRCm39) E713G possibly damaging Het
Mttp A G 3: 137,817,505 (GRCm39) F415S probably benign Het
Mug1 A G 6: 121,864,386 (GRCm39) T1428A probably benign Het
Mup6 A C 4: 60,006,009 (GRCm39) D159A probably damaging Het
Nsd2 T C 5: 34,037,472 (GRCm39) L698P probably damaging Het
Or2w6 A T 13: 21,843,001 (GRCm39) M164K probably damaging Het
Or4p22 G T 2: 88,317,519 (GRCm39) V148F probably benign Het
Or5p70 A G 7: 107,994,720 (GRCm39) N131S probably benign Het
Or6c217 A T 10: 129,738,287 (GRCm39) C97* probably null Het
Osgepl1 G A 1: 53,360,675 (GRCm39) R372H probably benign Het
Pias2 C T 18: 77,232,799 (GRCm39) H537Y probably damaging Het
Slc38a7 A C 8: 96,572,783 (GRCm39) I149M probably damaging Het
Smn1 A G 13: 100,264,472 (GRCm39) T68A probably benign Het
Syde2 A G 3: 145,707,231 (GRCm39) K657R possibly damaging Het
Tdrd5 A T 1: 156,098,190 (GRCm39) H625Q possibly damaging Het
Tead3 T C 17: 28,560,325 (GRCm39) Y2C probably damaging Het
Tmem255a T A X: 37,296,940 (GRCm39) T280S probably benign Het
Ttpa A G 4: 20,021,215 (GRCm39) T128A possibly damaging Het
Wdhd1 A G 14: 47,509,591 (GRCm39) probably null Het
Other mutations in Gpr143
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02635:Gpr143 APN X 151,591,257 (GRCm39) missense probably damaging 1.00
R2270:Gpr143 UTSW X 151,573,566 (GRCm39) missense probably damaging 0.98
R9594:Gpr143 UTSW X 151,578,627 (GRCm39) frame shift probably null
R9625:Gpr143 UTSW X 151,578,627 (GRCm39) frame shift probably null
R9626:Gpr143 UTSW X 151,578,627 (GRCm39) frame shift probably null
Posted On 2015-12-18