Mutagenetix > Incidental Mutation

Incidental Mutation 'R4890:Pcare'

377287

Institutional Source

Beutler Lab

Gene Symbol

Pcare

Ensembl Gene

ENSMUSG00000044375

Gene Name

photoreceptor cilium actin regulator

Synonyms

BC027072

MMRRC Submission

042495-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4890 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72050919-72059904 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72059306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 124 (V124I)

Ref Sequence

ENSEMBL: ENSMUSP00000051871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057405]

AlphaFold

Q6PAC4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057405
AA Change: V124I

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: V124I

Domain	Start	End	E-Value	Type
Pfam:Retinal	1	1255	N/A	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

99% (81/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	C	1: 130,668,725 (GRCm39)		probably benign	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Adgrb3	T	C	1: 25,260,908 (GRCm39)	N916S	probably damaging	Het
Aox1	T	C	1: 58,373,862 (GRCm39)	V841A	probably benign	Het
Baz2b	A	T	2: 59,756,383 (GRCm39)	M983K	probably damaging	Het
C2cd2l	A	G	9: 44,222,430 (GRCm39)	F682L	probably damaging	Het
Ccsap	T	G	8: 124,572,160 (GRCm39)	E114A	possibly damaging	Het
Cept1	T	A	3: 106,413,123 (GRCm39)	T201S	probably damaging	Het
Cfap221	T	C	1: 119,883,476 (GRCm39)	M232V	probably benign	Het
Chsy1	A	G	7: 65,759,974 (GRCm39)	R106G	probably benign	Het
Cit	C	T	5: 116,126,182 (GRCm39)		probably benign	Het
Cldn7	G	A	11: 69,857,918 (GRCm39)	V42I	probably benign	Het
Cnnm4	T	A	1: 36,511,345 (GRCm39)	V191E	probably benign	Het
Cntf	A	T	19: 12,741,326 (GRCm39)	V178D	possibly damaging	Het
Ctsz	C	A	2: 174,270,393 (GRCm39)	R263L	probably damaging	Het
Dclk1	T	C	3: 55,429,353 (GRCm39)	M407T	probably benign	Het
Dennd1a	A	T	2: 38,066,238 (GRCm39)		probably benign	Het
Dnhd1	A	G	7: 105,306,164 (GRCm39)	I368V	possibly damaging	Het
Gak	A	T	5: 108,728,742 (GRCm39)		probably benign	Het
Hepacam2	A	T	6: 3,487,231 (GRCm39)	V42D	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Insr	T	A	8: 3,248,234 (GRCm39)	Q437L	probably benign	Het
Itga8	G	A	2: 12,198,102 (GRCm39)		probably benign	Het
Kansl1	A	T	11: 104,233,868 (GRCm39)	C732S	probably benign	Het
Kdsr	T	C	1: 106,680,964 (GRCm39)	K78R	probably benign	Het
Kif14	T	C	1: 136,414,868 (GRCm39)	S785P	possibly damaging	Het
Lbr	C	A	1: 181,645,133 (GRCm39)	L506F	probably benign	Het
Macf1	C	A	4: 123,342,031 (GRCm39)	C2720F	probably damaging	Het
Mapt	G	A	11: 104,218,975 (GRCm39)	D738N	probably damaging	Het
Mroh9	T	C	1: 162,854,093 (GRCm39)	Y769C	probably damaging	Het
Mylk2	A	G	2: 152,762,274 (GRCm39)	N515S	possibly damaging	Het
Myorg	G	A	4: 41,498,877 (GRCm39)	T251M	probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nrxn2	A	T	19: 6,498,308 (GRCm39)	S258C	possibly damaging	Het
Nudt16l2	A	T	9: 105,021,786 (GRCm39)	S87T	possibly damaging	Het
Or52e15	G	A	7: 104,645,311 (GRCm39)	H267Y	probably benign	Het
Or5m12	C	T	2: 85,735,092 (GRCm39)	C102Y	possibly damaging	Het
Or6c1b	C	T	10: 129,272,948 (GRCm39)	T89I	probably benign	Het
Or6z5	T	A	7: 6,477,848 (GRCm39)	C246*	probably null	Het
Or8c15	G	T	9: 38,120,586 (GRCm39)	C79F	probably benign	Het
Osgin2	G	A	4: 16,013,739 (GRCm39)		probably benign	Het
Otud3	G	A	4: 138,641,060 (GRCm39)	R27W	probably damaging	Het
Pcdhga12	T	A	18: 37,901,290 (GRCm39)	F707L	possibly damaging	Het
Pik3r1	T	C	13: 101,894,118 (GRCm39)	E17G	probably damaging	Het
Pramel19	A	G	4: 101,798,788 (GRCm39)	E253G	probably damaging	Het
Prickle4	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	17: 48,000,806 (GRCm39)		probably benign	Het
Prokr1	G	A	6: 87,565,678 (GRCm39)	R56W	probably benign	Het
Ptprz1	G	A	6: 23,024,957 (GRCm39)	C1731Y	probably damaging	Het
Rbm15b	A	T	9: 106,763,028 (GRCm39)	F380Y	possibly damaging	Het
Rfc5	G	A	5: 117,524,885 (GRCm39)	L56F	probably damaging	Het
Rhpn2	A	T	7: 35,090,228 (GRCm39)	M617L	probably benign	Het
Rusc1	T	C	3: 88,995,577 (GRCm39)		probably null	Het
Sec23ip	A	G	7: 128,354,634 (GRCm39)	N297D	probably damaging	Het
Sema3c	A	T	5: 17,880,157 (GRCm39)	H259L	probably benign	Het
Sgsm1	G	A	5: 113,428,328 (GRCm39)		probably benign	Het
Shisal2a	A	G	4: 108,224,998 (GRCm39)	V188A	probably benign	Het
Sipa1l2	T	A	8: 126,218,606 (GRCm39)	S244C	probably damaging	Het
Slc39a5	T	C	10: 128,234,316 (GRCm39)	I196V	probably benign	Het
Smim22	G	A	16: 4,825,722 (GRCm39)	A36T	probably damaging	Het
Spag6	A	G	2: 18,747,588 (GRCm39)	I408V	probably benign	Het
Sult2a5	A	G	7: 13,359,311 (GRCm39)	I96V	probably benign	Het
Tmcc2	C	A	1: 132,308,517 (GRCm39)	A126S	probably benign	Het
Tsc2	A	T	17: 24,819,009 (GRCm39)	S1276T	probably damaging	Het
Ttc21a	A	G	9: 119,788,103 (GRCm39)	S843G	probably benign	Het
Tubd1	G	C	11: 86,443,621 (GRCm39)	V110L	possibly damaging	Het
Ugt1a2	T	A	1: 88,128,534 (GRCm39)	V59D	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,697,024 (GRCm39)	R687G	probably damaging	Het
Vsig8	T	A	1: 172,389,142 (GRCm39)	H131Q	probably benign	Het
Zbtb42	C	A	12: 112,646,861 (GRCm39)	Y345*	probably null	Het
Zfp612	T	A	8: 110,816,576 (GRCm39)	C594*	probably null	Het
Zfp940	A	G	7: 29,544,824 (GRCm39)	V361A	probably benign	Het

Other mutations in Pcare

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GCGCACAATGGCTTCGTATC -3'
(R):5'- AGAGGAGACAGTGTCAAGTTCC -3'

Sequencing Primer
(F):5'- CACAATGGCTTCGTATCTGGAAAG -3'
(R):5'- TGTCAAGTTCCAAGAAGCTGC -3'

Posted On

2016-03-17