Incidental Mutation 'R5625:Pcare'
ID 441821
Institutional Source Beutler Lab
Gene Symbol Pcare
Ensembl Gene ENSMUSG00000044375
Gene Name photoreceptor cilium actin regulator
Synonyms BC027072
MMRRC Submission 043164-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R5625 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 72050919-72059904 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72058321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 452 (D452V)
Ref Sequence ENSEMBL: ENSMUSP00000051871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057405]
AlphaFold Q6PAC4
Predicted Effect probably damaging
Transcript: ENSMUST00000057405
AA Change: D452V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: D452V

DomainStartEndE-ValueType
Pfam:Retinal 1 1255 N/A PFAM
Meta Mutation Damage Score 0.1344 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (61/61)
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 highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele develop severe early-onset retinal degeneration associated with a disorganized outer segment, progressive thinning of the outer nuclear layer, microglia activation, decreased a- and b-wave amplitudes, and nearly undetectable ERG responses by 8 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T G 9: 44,189,333 (GRCm39) D388A probably benign Het
Ampd3 A C 7: 110,401,730 (GRCm39) E408A probably damaging Het
Bmp1 G T 14: 70,723,606 (GRCm39) N743K probably benign Het
Brsk1 A G 7: 4,709,399 (GRCm39) K398E probably damaging Het
Ccdc157 A T 11: 4,101,888 (GRCm39) M11K probably damaging Het
Cep295 A C 9: 15,252,187 (GRCm39) M394R probably damaging Het
Cfap44 G T 16: 44,280,710 (GRCm39) probably null Het
Col13a1 C T 10: 61,679,388 (GRCm39) G713R unknown Het
Cxcr2 A T 1: 74,197,991 (GRCm39) K162* probably null Het
Cyp3a44 C T 5: 145,716,376 (GRCm39) D405N possibly damaging Het
Exo1 G T 1: 175,721,380 (GRCm39) D340Y possibly damaging Het
Farp2 T G 1: 93,456,470 (GRCm39) L51R probably damaging Het
Fat4 A T 3: 38,943,083 (GRCm39) I659F possibly damaging Het
Gbp2b T A 3: 142,304,806 (GRCm39) W81R probably damaging Het
Gipc2 C T 3: 151,871,541 (GRCm39) probably benign Het
Gm10941 G T 10: 77,094,670 (GRCm39) probably benign Het
Gm1988 A T 7: 38,823,229 (GRCm39) noncoding transcript Het
Hapln3 G T 7: 78,767,006 (GRCm39) probably null Het
Ifi213 A G 1: 173,396,629 (GRCm39) S482P possibly damaging Het
Insc A G 7: 114,428,302 (GRCm39) T92A probably damaging Het
Lrrn1 T A 6: 107,544,315 (GRCm39) C38S probably damaging Het
Mycbpap T C 11: 94,396,519 (GRCm39) E107G probably damaging Het
Neb A T 2: 52,067,547 (GRCm39) L5848* probably null Het
Nrg3 A T 14: 38,092,950 (GRCm39) M545K probably damaging Het
Nudt3 A G 17: 27,802,202 (GRCm39) L28P probably damaging Het
Or8g35 T A 9: 39,381,099 (GRCm39) M308L probably benign Het
Otop1 A T 5: 38,460,104 (GRCm39) Y557F probably damaging Het
Pdgfra G A 5: 75,349,998 (GRCm39) probably null Het
Pi4kb A G 3: 94,891,988 (GRCm39) M223V probably benign Het
Piezo1 T C 8: 123,209,699 (GRCm39) T2335A probably benign Het
Ppp6c A G 2: 39,087,453 (GRCm39) V251A probably benign Het
Prkg1 C T 19: 31,742,162 (GRCm39) E21K possibly damaging Het
Ptpru T C 4: 131,530,691 (GRCm39) E521G probably null Het
Rasl10b G T 11: 83,309,640 (GRCm39) R199L probably damaging Het
Rhbdf2 G A 11: 116,496,203 (GRCm39) R111C probably damaging Het
Sec23ip G T 7: 128,346,707 (GRCm39) probably benign Het
Sptbn5 A T 2: 119,910,273 (GRCm39) noncoding transcript Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Syne2 T C 12: 76,141,886 (GRCm39) S6141P probably benign Het
Szt2 A G 4: 118,230,414 (GRCm39) V2653A unknown Het
Tex46 T C 4: 136,337,925 (GRCm39) F39S probably damaging Het
Tmem50a AACCA AA 4: 134,625,778 (GRCm39) probably benign Het
Tmem62 G T 2: 120,820,874 (GRCm39) W180L probably damaging Het
Tnxb G A 17: 34,904,185 (GRCm39) A1232T probably benign Het
Tubgcp3 T C 8: 12,674,888 (GRCm39) H744R possibly damaging Het
Uggt2 A G 14: 119,315,136 (GRCm39) I311T probably damaging Het
Usp8 C T 2: 126,584,197 (GRCm39) R469C probably damaging Het
Vmn1r19 T C 6: 57,382,281 (GRCm39) L278S probably damaging Het
Vmn2r129 A T 4: 156,686,505 (GRCm39) noncoding transcript Het
Vmn2r59 A T 7: 41,695,884 (GRCm39) I176N probably benign Het
Wdr93 A G 7: 79,420,766 (GRCm39) T376A probably benign Het
Zfp575 G A 7: 24,285,077 (GRCm39) A188V possibly damaging Het
Other mutations in Pcare
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02010:Pcare APN 17 72,056,459 (GRCm39) missense probably benign 0.38
IGL02033:Pcare APN 17 72,058,076 (GRCm39) missense probably damaging 1.00
IGL02711:Pcare APN 17 72,056,377 (GRCm39) missense probably benign 0.15
IGL03185:Pcare APN 17 72,056,332 (GRCm39) missense probably damaging 0.98
IGL03242:Pcare APN 17 72,057,266 (GRCm39) missense probably benign 0.01
R0367:Pcare UTSW 17 72,057,471 (GRCm39) missense probably damaging 1.00
R0413:Pcare UTSW 17 72,059,212 (GRCm39) missense probably benign 0.38
R0465:Pcare UTSW 17 72,057,155 (GRCm39) missense probably benign 0.42
R0535:Pcare UTSW 17 72,059,434 (GRCm39) missense probably benign 0.01
R0681:Pcare UTSW 17 72,056,509 (GRCm39) missense probably benign 0.00
R0736:Pcare UTSW 17 72,051,659 (GRCm39) missense probably benign 0.00
R1406:Pcare UTSW 17 72,056,156 (GRCm39) missense probably benign 0.18
R1406:Pcare UTSW 17 72,056,156 (GRCm39) missense probably benign 0.18
R1530:Pcare UTSW 17 72,056,473 (GRCm39) missense probably benign 0.01
R1723:Pcare UTSW 17 72,057,373 (GRCm39) missense probably damaging 1.00
R1941:Pcare UTSW 17 72,059,063 (GRCm39) missense probably damaging 1.00
R2179:Pcare UTSW 17 72,059,521 (GRCm39) missense probably damaging 1.00
R2232:Pcare UTSW 17 72,056,279 (GRCm39) missense probably benign 0.00
R2519:Pcare UTSW 17 72,058,642 (GRCm39) missense probably damaging 1.00
R2997:Pcare UTSW 17 72,051,706 (GRCm39) critical splice acceptor site probably benign
R3899:Pcare UTSW 17 72,057,155 (GRCm39) missense probably benign 0.00
R4890:Pcare UTSW 17 72,059,306 (GRCm39) missense possibly damaging 0.50
R4898:Pcare UTSW 17 72,058,066 (GRCm39) missense probably damaging 1.00
R5347:Pcare UTSW 17 72,056,930 (GRCm39) missense probably benign 0.00
R5436:Pcare UTSW 17 72,057,837 (GRCm39) missense probably damaging 1.00
R5527:Pcare UTSW 17 72,059,635 (GRCm39) missense probably damaging 1.00
R5556:Pcare UTSW 17 72,059,420 (GRCm39) missense possibly damaging 0.81
R5707:Pcare UTSW 17 72,058,567 (GRCm39) missense possibly damaging 0.90
R5932:Pcare UTSW 17 72,058,748 (GRCm39) missense probably damaging 1.00
R6043:Pcare UTSW 17 72,057,037 (GRCm39) missense probably damaging 1.00
R6314:Pcare UTSW 17 72,059,452 (GRCm39) missense probably benign 0.04
R6513:Pcare UTSW 17 72,051,701 (GRCm39) missense probably damaging 1.00
R7575:Pcare UTSW 17 72,057,850 (GRCm39) missense probably damaging 1.00
R7638:Pcare UTSW 17 72,057,880 (GRCm39) missense probably damaging 1.00
R7848:Pcare UTSW 17 72,056,188 (GRCm39) missense probably benign 0.04
R8317:Pcare UTSW 17 72,056,197 (GRCm39) missense probably benign 0.10
R8530:Pcare UTSW 17 72,059,101 (GRCm39) missense probably damaging 1.00
R8671:Pcare UTSW 17 72,058,372 (GRCm39) missense probably benign 0.34
R8831:Pcare UTSW 17 72,059,305 (GRCm39) missense probably benign 0.01
R8854:Pcare UTSW 17 72,056,326 (GRCm39) missense probably benign
R8941:Pcare UTSW 17 72,059,137 (GRCm39) missense probably benign 0.06
R9227:Pcare UTSW 17 72,057,217 (GRCm39) missense probably damaging 1.00
R9230:Pcare UTSW 17 72,057,217 (GRCm39) missense probably damaging 1.00
R9380:Pcare UTSW 17 72,056,351 (GRCm39) missense possibly damaging 0.95
R9390:Pcare UTSW 17 72,057,983 (GRCm39) missense probably benign 0.09
R9618:Pcare UTSW 17 72,057,817 (GRCm39) missense probably damaging 1.00
X0035:Pcare UTSW 17 72,051,706 (GRCm39) critical splice acceptor site probably benign
Z1177:Pcare UTSW 17 72,057,398 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTTCCTAAGCTCCTTGGAG -3'
(R):5'- TGGCAGGAAGGTCCATACTG -3'

Sequencing Primer
(F):5'- TACGGCTGAAAGAGGCTTTCC -3'
(R):5'- TCCATACTGGACAGGTTCAGACAG -3'
Posted On 2016-11-08