Incidental Mutation 'IGL01087:Prph2'
ID 53038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prph2
Ensembl Gene ENSMUSG00000023978
Gene Name peripherin 2
Synonyms Tspan22, Rd2, Nmf193, rds
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01087
Quality Score
Status
Chromosome 17
Chromosomal Location 47221404-47235859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47222085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 155 (T155A)
Ref Sequence ENSEMBL: ENSMUSP00000024773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024773]
AlphaFold P15499
Predicted Effect probably damaging
Transcript: ENSMUST00000024773
AA Change: T155A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024773
Gene: ENSMUSG00000023978
AA Change: T155A

DomainStartEndE-ValueType
Pfam:Tetraspannin 16 288 2.2e-28 PFAM
low complexity region 333 346 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162469
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A T 6: 83,139,770 (GRCm39) probably null Het
Abca6 C A 11: 110,082,476 (GRCm39) A1166S probably benign Het
Arhgdib C A 6: 136,910,622 (GRCm39) K46N probably damaging Het
Ash1l T A 3: 88,971,209 (GRCm39) V2507D probably damaging Het
B4galnt1 A T 10: 127,002,060 (GRCm39) I63F probably damaging Het
Bclaf1 A G 10: 20,201,056 (GRCm39) D394G probably damaging Het
Btbd10 T C 7: 112,915,763 (GRCm39) D442G probably damaging Het
Cd44 A T 2: 102,652,607 (GRCm39) L492H probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Chsy1 T G 7: 65,821,874 (GRCm39) V703G possibly damaging Het
Clrn2 T C 5: 45,621,311 (GRCm39) probably benign Het
Crtc3 T C 7: 80,248,487 (GRCm39) probably benign Het
Cul1 A G 6: 47,485,978 (GRCm39) T342A probably benign Het
Dgki T C 6: 36,989,846 (GRCm39) D631G probably damaging Het
Eif3b T C 5: 140,426,862 (GRCm39) I706T probably damaging Het
Fam120a A G 13: 49,055,549 (GRCm39) L713P probably damaging Het
I830077J02Rik C A 3: 105,836,049 (GRCm39) probably null Het
Jmjd8 A C 17: 26,048,145 (GRCm39) probably benign Het
Kmt5a T C 5: 124,589,443 (GRCm39) probably benign Het
Krt87 C A 15: 101,329,706 (GRCm39) C486F probably benign Het
Lrp2 A T 2: 69,354,417 (GRCm39) N470K probably damaging Het
Med1 C A 11: 98,071,111 (GRCm39) D79Y probably damaging Het
Myo1d A G 11: 80,573,261 (GRCm39) S189P probably damaging Het
Myo9a T A 9: 59,697,361 (GRCm39) Y381N possibly damaging Het
Nipbl C A 15: 8,379,981 (GRCm39) S937I possibly damaging Het
Nlrp4g A G 9: 124,353,858 (GRCm38) noncoding transcript Het
Nutm2 A G 13: 50,623,665 (GRCm39) T121A probably damaging Het
Opa1 C T 16: 29,405,815 (GRCm39) P127S probably damaging Het
Or2h1b C T 17: 37,462,332 (GRCm39) C177Y probably damaging Het
Pcdh15 A T 10: 74,178,464 (GRCm39) I574F possibly damaging Het
Pcnx1 G A 12: 82,042,113 (GRCm39) probably benign Het
Prex2 A G 1: 11,138,328 (GRCm39) T136A probably benign Het
Rsl1d1 T C 16: 11,012,539 (GRCm39) K296E possibly damaging Het
Syne1 A T 10: 5,375,708 (GRCm39) I128N probably damaging Het
Tlk1 A T 2: 70,582,660 (GRCm39) N156K possibly damaging Het
Trem2 C T 17: 48,658,956 (GRCm39) T222I probably damaging Het
Trip12 A T 1: 84,735,580 (GRCm39) F872L probably damaging Het
Trrap T A 5: 144,783,349 (GRCm39) S3393T probably damaging Het
Vwa8 T A 14: 79,172,669 (GRCm39) S304T probably benign Het
Zc3h7a T C 16: 10,971,046 (GRCm39) T328A probably benign Het
Other mutations in Prph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Prph2 APN 17 47,230,704 (GRCm39) missense probably damaging 0.97
PIT4480001:Prph2 UTSW 17 47,222,039 (GRCm39) frame shift probably null
R0025:Prph2 UTSW 17 47,230,697 (GRCm39) missense probably benign 0.17
R2235:Prph2 UTSW 17 47,222,092 (GRCm39) missense probably damaging 1.00
R3120:Prph2 UTSW 17 47,234,298 (GRCm39) missense possibly damaging 0.49
R3954:Prph2 UTSW 17 47,221,644 (GRCm39) missense probably benign 0.39
R4864:Prph2 UTSW 17 47,221,848 (GRCm39) missense probably benign 0.03
R4972:Prph2 UTSW 17 47,221,733 (GRCm39) missense possibly damaging 0.94
R5645:Prph2 UTSW 17 47,221,593 (GRCm39) start gained probably benign
R5687:Prph2 UTSW 17 47,234,391 (GRCm39) missense probably damaging 0.99
R6494:Prph2 UTSW 17 47,222,007 (GRCm39) missense probably benign 0.03
R6658:Prph2 UTSW 17 47,230,790 (GRCm39) missense probably benign 0.05
R7775:Prph2 UTSW 17 47,221,732 (GRCm39) missense possibly damaging 0.82
R7778:Prph2 UTSW 17 47,221,732 (GRCm39) missense possibly damaging 0.82
R7824:Prph2 UTSW 17 47,221,732 (GRCm39) missense possibly damaging 0.82
R8098:Prph2 UTSW 17 47,230,892 (GRCm39) missense probably benign 0.09
R9221:Prph2 UTSW 17 47,230,818 (GRCm39) missense probably damaging 1.00
R9703:Prph2 UTSW 17 47,234,447 (GRCm39) missense unknown
Posted On 2013-06-21