Incidental Mutation 'R6494:Prph2'
ID 522981
Institutional Source Beutler Lab
Gene Symbol Prph2
Ensembl Gene ENSMUSG00000023978
Gene Name peripherin 2
Synonyms Nmf193, Rd2, rds, Tspan22
MMRRC Submission 044626-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6494 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 46910459-46924933 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46911081 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 129 (T129A)
Ref Sequence ENSEMBL: ENSMUSP00000024773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024773]
AlphaFold P15499
Predicted Effect probably benign
Transcript: ENSMUST00000024773
AA Change: T129A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000024773
Gene: ENSMUSG00000023978
AA Change: T129A

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.4%
Validation Efficiency 98% (44/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A G 4: 42,971,924 (GRCm38) N419S possibly damaging Het
Akt2 T C 7: 27,616,349 (GRCm38) L52P possibly damaging Het
Chd1l G A 3: 97,587,167 (GRCm38) A399V probably damaging Het
Chic2 T C 5: 75,044,282 (GRCm38) E6G probably benign Het
Clca4a T A 3: 144,957,298 (GRCm38) T597S probably benign Het
Col5a2 C A 1: 45,378,327 (GRCm38) D1363Y probably damaging Het
Csmd1 C T 8: 16,211,695 (GRCm38) probably null Het
Dnah7b A T 1: 46,099,431 (GRCm38) Y211F probably damaging Het
Efcab3 A T 11: 105,100,019 (GRCm38) Y5460F possibly damaging Het
Efcab6 T A 15: 84,044,322 (GRCm38) probably null Het
Eno4 T A 19: 58,962,794 (GRCm38) Y237N probably damaging Het
Fer1l4 T A 2: 156,045,470 (GRCm38) D602V probably benign Het
Fgfr2 T C 7: 130,198,550 (GRCm38) N337S probably damaging Het
Fras1 C T 5: 96,759,564 (GRCm38) R3203C possibly damaging Het
Gbp2 T A 3: 142,632,008 (GRCm38) V295E probably damaging Het
Gm10549 C A 18: 33,464,305 (GRCm38) probably benign Het
Hyal4 A G 6: 24,765,746 (GRCm38) I366M possibly damaging Het
Itsn2 C T 12: 4,634,792 (GRCm38) R448* probably null Het
Klhl35 G T 7: 99,472,899 (GRCm38) W69L probably damaging Het
Kpnb1 T C 11: 97,181,648 (GRCm38) I154V probably benign Het
Lax1 T A 1: 133,680,448 (GRCm38) Y185F probably damaging Het
Mmp12 C T 9: 7,353,479 (GRCm38) P208L probably damaging Het
Ndufb8 C T 19: 44,555,305 (GRCm38) V33M probably null Het
Nptn T G 9: 58,623,752 (GRCm38) C169G probably damaging Het
Nuggc A T 14: 65,648,222 (GRCm38) E766V probably damaging Het
Olfr1117-ps1 A T 2: 87,309,176 (GRCm38) N149I possibly damaging Het
Olfr1150-ps1 A T 2: 87,357,632 (GRCm38) K63* probably null Het
Pcdhga6 T A 18: 37,708,541 (GRCm38) I438N probably damaging Het
Pkn2 T C 3: 142,803,668 (GRCm38) N721S possibly damaging Het
Pole T C 5: 110,324,722 (GRCm38) W1590R possibly damaging Het
Ptpro A T 6: 137,382,642 (GRCm38) K403N probably benign Het
Rbck1 T C 2: 152,330,966 (GRCm38) D54G possibly damaging Het
Serpinb7 T A 1: 107,435,346 (GRCm38) L80* probably null Het
Setdb2 T A 14: 59,402,414 (GRCm38) Y676F probably benign Het
Skint1 G T 4: 112,010,712 (GRCm38) C12F probably benign Het
Slc22a26 T A 19: 7,802,286 (GRCm38) D55V probably damaging Het
Slc9a8 G A 2: 167,424,291 (GRCm38) V63I probably damaging Het
Sox2 T A 3: 34,651,097 (GRCm38) S228T probably benign Het
Spg11 A G 2: 122,113,225 (GRCm38) S149P probably damaging Het
Tbc1d19 T A 5: 53,829,383 (GRCm38) S45T probably benign Het
Tsacc T C 3: 88,295,396 (GRCm38) E11G probably benign Het
Ttc7b C T 12: 100,495,407 (GRCm38) A104T possibly damaging Het
Uox C T 3: 146,624,577 (GRCm38) R163* probably null Het
Zfp108 T A 7: 24,261,357 (GRCm38) F458I probably damaging Het
Zfp616 A T 11: 74,085,192 (GRCm38) K762N probably damaging Het
Other mutations in Prph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Prph2 APN 17 46,919,778 (GRCm38) missense probably damaging 0.97
IGL01087:Prph2 APN 17 46,911,159 (GRCm38) missense probably damaging 0.97
PIT4480001:Prph2 UTSW 17 46,911,113 (GRCm38) frame shift probably null
R0025:Prph2 UTSW 17 46,919,771 (GRCm38) missense probably benign 0.17
R2235:Prph2 UTSW 17 46,911,166 (GRCm38) missense probably damaging 1.00
R3120:Prph2 UTSW 17 46,923,372 (GRCm38) missense possibly damaging 0.49
R3954:Prph2 UTSW 17 46,910,718 (GRCm38) missense probably benign 0.39
R4864:Prph2 UTSW 17 46,910,922 (GRCm38) missense probably benign 0.03
R4972:Prph2 UTSW 17 46,910,807 (GRCm38) missense possibly damaging 0.94
R5645:Prph2 UTSW 17 46,910,667 (GRCm38) start gained probably benign
R5687:Prph2 UTSW 17 46,923,465 (GRCm38) missense probably damaging 0.99
R6658:Prph2 UTSW 17 46,919,864 (GRCm38) missense probably benign 0.05
R7775:Prph2 UTSW 17 46,910,806 (GRCm38) missense possibly damaging 0.82
R7778:Prph2 UTSW 17 46,910,806 (GRCm38) missense possibly damaging 0.82
R7824:Prph2 UTSW 17 46,910,806 (GRCm38) missense possibly damaging 0.82
R8098:Prph2 UTSW 17 46,919,966 (GRCm38) missense probably benign 0.09
R9221:Prph2 UTSW 17 46,919,892 (GRCm38) missense probably damaging 1.00
R9703:Prph2 UTSW 17 46,923,521 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-06-06