Incidental Mutation 'R9380:Pcare'
ID 709980
Institutional Source Beutler Lab
Gene Symbol Pcare
Ensembl Gene ENSMUSG00000044375
Gene Name photoreceptor cilium actin regulator
Synonyms BC027072
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R9380 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 72050919-72059904 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72056351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1109 (S1109T)
Ref Sequence ENSEMBL: ENSMUSP00000051871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057405]
AlphaFold Q6PAC4
Predicted Effect possibly damaging
Transcript: ENSMUST00000057405
AA Change: S1109T

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: S1109T

DomainStartEndE-ValueType
Pfam:Retinal 1 1255 N/A PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (79/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 T G 1: 78,659,602 (GRCm39) C85G possibly damaging Het
Alox12e A T 11: 70,206,994 (GRCm39) probably null Het
Aoc1l2 T C 6: 48,910,064 (GRCm39) I667T probably damaging Het
Asb10 A C 5: 24,739,103 (GRCm39) probably null Het
B3galt9 G A 2: 34,729,029 (GRCm39) C276Y probably damaging Het
Bcl2a1d G A 9: 88,613,935 (GRCm39) probably benign Het
Camsap3 A T 8: 3,653,999 (GRCm39) K556N probably benign Het
Cd300lf T A 11: 115,015,153 (GRCm39) T146S probably benign Het
Chuk C A 19: 44,062,958 (GRCm39) A744S unknown Het
Clint1 A T 11: 45,742,988 (GRCm39) M4L probably benign Het
Cnot4 T C 6: 35,029,865 (GRCm39) I344M possibly damaging Het
Cpne1 T C 2: 155,920,721 (GRCm39) D135G probably benign Het
Csgalnact2 C A 6: 118,105,840 (GRCm39) L159F probably damaging Het
Dnai2 T C 11: 114,635,989 (GRCm39) F325L probably benign Het
Dnal4 G A 15: 79,647,790 (GRCm39) S25L possibly damaging Het
Ep300 T C 15: 81,500,245 (GRCm39) M515T unknown Het
Ewsr1 T C 11: 5,043,730 (GRCm39) Y18C possibly damaging Het
Fam25a T C 14: 34,073,957 (GRCm39) T72A possibly damaging Het
Flii T C 11: 60,606,297 (GRCm39) Y1131C probably benign Het
Foxj1 C T 11: 116,222,547 (GRCm39) A419T possibly damaging Het
Fsd1l A G 4: 53,693,991 (GRCm39) T323A possibly damaging Het
Furin T C 7: 80,041,506 (GRCm39) I551V probably benign Het
Gbp11 A G 5: 105,475,202 (GRCm39) V382A probably benign Het
Gfod1 A C 13: 43,354,320 (GRCm39) D218E probably damaging Het
Glp2r A T 11: 67,637,572 (GRCm39) I153N possibly damaging Het
Gm11214 G T 4: 63,580,850 (GRCm39) P100T possibly damaging Het
Gne A T 4: 44,066,807 (GRCm39) F69I probably benign Het
Hsd3b2 T C 3: 98,619,453 (GRCm39) K164R probably damaging Het
Hspa1b T C 17: 35,177,170 (GRCm39) R272G probably damaging Het
Hydin C A 8: 111,290,504 (GRCm39) T3321N probably benign Het
Impg1 A T 9: 80,289,077 (GRCm39) S327T probably benign Het
Izumo2 T C 7: 44,364,812 (GRCm39) V159A probably benign Het
Kat6b T C 14: 21,678,926 (GRCm39) S430P probably damaging Het
Kcnj9 T A 1: 172,153,447 (GRCm39) T226S probably benign Het
Kl T A 5: 150,912,342 (GRCm39) M697K possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrrk1 G A 7: 65,928,331 (GRCm39) P1266S probably damaging Het
Med13 A T 11: 86,177,598 (GRCm39) N1499K probably benign Het
Mybbp1a A G 11: 72,333,668 (GRCm39) I182V probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nin A G 12: 70,074,805 (GRCm39) L1859P Het
Nlrp4e C G 7: 23,020,755 (GRCm39) A414G probably benign Het
Or2y10 A G 11: 49,454,904 (GRCm39) D52G possibly damaging Het
Or4a67 A T 2: 88,598,530 (GRCm39) I43N probably damaging Het
Or4k1 C A 14: 50,377,770 (GRCm39) G109W probably damaging Het
Or8b50 A G 9: 38,518,415 (GRCm39) Y218C probably damaging Het
Osbpl8 T A 10: 111,108,980 (GRCm39) S421T probably damaging Het
Paqr7 A G 4: 134,234,350 (GRCm39) N69S probably damaging Het
Pdgfrb G A 18: 61,197,920 (GRCm39) G231D probably damaging Het
Pip5k1b A G 19: 24,356,417 (GRCm39) Y174H probably damaging Het
Pkd1 T A 17: 24,769,262 (GRCm39) L9Q unknown Het
Psmg4 A T 13: 34,350,080 (GRCm39) T71S probably benign Het
Ptpn23 A G 9: 110,221,581 (GRCm39) I173T possibly damaging Het
Qser1 G A 2: 104,619,691 (GRCm39) Q284* probably null Het
Rcc2 G T 4: 140,429,702 (GRCm39) A79S probably benign Het
Rgl3 G T 9: 21,888,123 (GRCm39) Q464K probably damaging Het
Rhov C A 2: 119,100,604 (GRCm39) R211L probably benign Het
Rp1l1 A G 14: 64,266,475 (GRCm39) D687G probably benign Het
Selenbp2 A G 3: 94,609,654 (GRCm39) I291V probably benign Het
Sh3glb2 A T 2: 30,238,625 (GRCm39) V189E probably damaging Het
Slc46a2 A G 4: 59,913,867 (GRCm39) I352T probably damaging Het
Sucla2 T A 14: 73,828,312 (GRCm39) N306K probably benign Het
Suco A G 1: 161,646,074 (GRCm39) V1209A possibly damaging Het
Tacc2 T A 7: 130,226,771 (GRCm39) L1152Q possibly damaging Het
Tanc1 A T 2: 59,665,796 (GRCm39) K1185M probably damaging Het
Tas2r114 A G 6: 131,666,381 (GRCm39) F216L probably benign Het
Tead1 A T 7: 112,441,105 (GRCm39) H78L possibly damaging Het
Tex12 T C 9: 50,469,586 (GRCm39) I64V possibly damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Trank1 A G 9: 111,221,738 (GRCm39) E2825G probably benign Het
Trappc13 T A 13: 104,280,707 (GRCm39) Y399F probably damaging Het
Trim21 T C 7: 102,212,992 (GRCm39) D102G probably damaging Het
Trim27 G T 13: 21,364,680 (GRCm39) V6L probably benign Het
Trim55 A G 3: 19,728,559 (GRCm39) T457A probably benign Het
Trrap A G 5: 144,769,981 (GRCm39) E2716G probably benign Het
Usp10 T G 8: 120,682,943 (GRCm39) L712R probably damaging Het
Vldlr T A 19: 27,216,192 (GRCm39) C338S possibly damaging Het
Zfp946 A G 17: 22,673,680 (GRCm39) I145V probably benign 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
R5625:Pcare UTSW 17 72,058,321 (GRCm39) missense probably damaging 1.00
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
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'- GCACCGTTCTCTTCTGTGAG -3'
(R):5'- CAAAGAGCACAGTGGGCATC -3'

Sequencing Primer
(F):5'- TGTGAGTCTGCCCTCAGTCG -3'
(R):5'- GTCATGGACCATCCCAGC -3'
Posted On 2022-04-18