Incidental Mutation 'IGL02932:Gpr143'
ID364166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr143
Ensembl Gene ENSMUSG00000025333
Gene NameG protein-coupled receptor 143
SynonymsOa1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02932
Quality Score
Status
ChromosomeX
Chromosomal Location152781921-152808646 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 152793443 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026383]
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: 9,115,708 E122D probably damaging Het
Asb3 G A 11: 31,029,067 probably null Het
Avl9 T C 6: 56,736,551 S265P probably benign Het
Cep44 C T 8: 56,547,424 R18Q probably damaging Het
Clec10a T C 11: 70,169,728 probably benign Het
Cog4 A G 8: 110,852,433 I115V probably benign Het
Coq3 C T 4: 21,900,430 A219V probably benign Het
Cry2 G A 2: 92,413,117 R460* probably null Het
Ddx39b A G 17: 35,253,361 probably benign Het
Dhx40 G A 11: 86,771,929 R646C probably damaging Het
Ears2 G A 7: 122,063,061 R55C probably damaging Het
Eif3m C T 2: 105,014,869 G26R probably damaging Het
Exo5 A G 4: 120,922,545 L41P probably benign Het
Fut10 A G 8: 31,259,937 H417R probably damaging Het
Gars T A 6: 55,060,944 L296Q probably damaging Het
Htr1b C A 9: 81,631,636 R306L probably damaging Het
Lama3 G A 18: 12,528,801 A2185T probably damaging Het
Mbd5 C A 2: 49,279,448 Q1544K possibly damaging Het
Mccc1 T C 3: 35,960,029 E713G possibly damaging Het
Mttp A G 3: 138,111,744 F415S probably benign Het
Mug1 A G 6: 121,887,427 T1428A probably benign Het
Mup6 A C 4: 60,006,009 D159A probably damaging Het
Nsd2 T C 5: 33,880,128 L698P probably damaging Het
Olfr1184 G T 2: 88,487,175 V148F probably benign Het
Olfr1361 A T 13: 21,658,831 M164K probably damaging Het
Olfr495 A G 7: 108,395,513 N131S probably benign Het
Olfr815 A T 10: 129,902,418 C97* probably null Het
Osgepl1 G A 1: 53,321,516 R372H probably benign Het
Pias2 C T 18: 77,145,103 H537Y probably damaging Het
Slc38a7 A C 8: 95,846,155 I149M probably damaging Het
Smn1 A G 13: 100,127,964 T68A probably benign Het
Syde2 A G 3: 146,001,476 K657R possibly damaging Het
Tdrd5 A T 1: 156,270,620 H625Q possibly damaging Het
Tead3 T C 17: 28,341,351 Y2C probably damaging Het
Tmem255a T A X: 38,208,063 T280S probably benign Het
Ttpa A G 4: 20,021,215 T128A possibly damaging Het
Wdhd1 A G 14: 47,272,134 probably null Het
Other mutations in Gpr143
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02635:Gpr143 APN X 152808261 missense probably damaging 1.00
R2270:Gpr143 UTSW X 152790570 missense probably damaging 0.98
Posted On2015-12-18