Mutagenetix > Incidental Mutation

Incidental Mutation 'R5347:Pcare'

422706

Institutional Source

Beutler Lab

Gene Symbol

Pcare

Ensembl Gene

ENSMUSG00000044375

Gene Name

photoreceptor cilium actin regulator

Synonyms

BC027072

MMRRC Submission

042926-MU

Accession Numbers

Essential gene?

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

Stock #

R5347 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72050919-72059904 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72056930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 916 (S916P)

Ref Sequence

ENSEMBL: ENSMUSP00000051871 (fasta)

Gene Model

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

AlphaFold

Q6PAC4

Predicted Effect

probably benign
Transcript: ENSMUST00000057405
AA Change: S916P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: S916P

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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 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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,782,166 (GRCm39)	Y233C	probably damaging	Het
Agl	A	G	3: 116,584,814 (GRCm39)	S169P	probably damaging	Het
Arid1b	C	T	17: 5,341,332 (GRCm39)	Q879*	probably null	Het
Bbs2	A	G	8: 94,819,178 (GRCm39)	S64P	probably damaging	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Cacna2d2	A	G	9: 107,391,313 (GRCm39)	T447A	probably benign	Het
Ccdc168	T	A	1: 44,096,955 (GRCm39)	Y1381F	probably benign	Het
Ccdc169	A	T	3: 55,049,740 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,560,546 (GRCm39)	S275P	possibly damaging	Het
Cdh15	A	G	8: 123,588,802 (GRCm39)	N292S	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cnnm1	A	G	19: 43,430,301 (GRCm39)	H473R	probably benign	Het
Cplx4	G	A	18: 66,103,157 (GRCm39)		probably benign	Het
Crb1	C	T	1: 139,265,109 (GRCm39)	G103E	probably damaging	Het
Dnaja3	T	A	16: 4,512,346 (GRCm39)	V250E	possibly damaging	Het
Dync2h1	T	G	9: 7,129,727 (GRCm39)	Q1757P	probably damaging	Het
Edem3	A	G	1: 151,683,202 (GRCm39)	Q626R	probably damaging	Het
Eif2b1	T	C	5: 124,716,862 (GRCm39)		probably benign	Het
Esf1	T	A	2: 139,996,801 (GRCm39)	K521*	probably null	Het
Fbxl3	A	C	14: 103,320,730 (GRCm39)	V239G	probably damaging	Het
Fhip2a	A	G	19: 57,367,051 (GRCm39)	D198G	probably benign	Het
Fto	A	G	8: 92,118,107 (GRCm39)		probably benign	Het
Gm5773	T	C	3: 93,681,090 (GRCm39)	L254P	probably damaging	Het
Gm5916	A	T	9: 36,032,012 (GRCm39)	W91R	probably benign	Het
Gpam	A	T	19: 55,077,269 (GRCm39)	L174H	probably damaging	Het
Grk1	G	A	8: 13,464,478 (GRCm39)	R450Q	probably damaging	Het
Hc	G	A	2: 34,927,636 (GRCm39)	A326V	probably benign	Het
Hectd4	T	C	5: 121,442,511 (GRCm39)	I1317T	probably benign	Het
Hlcs	A	G	16: 94,068,383 (GRCm39)	V426A	possibly damaging	Het
Ighv1-23	T	C	12: 114,728,376 (GRCm39)		probably benign	Het
Itgax	G	A	7: 127,740,474 (GRCm39)	V754I	probably benign	Het
Krt24	T	A	11: 99,173,556 (GRCm39)	D255V	probably damaging	Het
Lnpk	T	C	2: 74,403,935 (GRCm39)		probably benign	Het
Loxhd1	G	T	18: 77,454,237 (GRCm39)	R478L	probably damaging	Het
Lrrc56	A	G	7: 140,789,537 (GRCm39)	Q518R	probably benign	Het
Mbl1	A	T	14: 40,880,786 (GRCm39)	I225F	probably damaging	Het
Mmp21	T	C	7: 133,277,651 (GRCm39)	S392G	probably benign	Het
Mug2	T	G	6: 122,058,551 (GRCm39)	F1318V	probably damaging	Het
Myo5c	A	G	9: 75,202,487 (GRCm39)	N1447S	probably null	Het
Nbea	A	C	3: 55,948,297 (GRCm39)	V543G	probably damaging	Het
Necap1	A	G	6: 122,857,706 (GRCm39)	I96V	probably benign	Het
Nr3c2	T	A	8: 77,937,377 (GRCm39)	M872K	possibly damaging	Het
Nrf1	C	T	6: 30,118,967 (GRCm39)	T362M	probably benign	Het
Or14j2	T	C	17: 37,885,618 (GRCm39)	E232G	probably damaging	Het
Plekhm3	T	C	1: 64,859,149 (GRCm39)	E685G	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sbk3	A	T	7: 4,970,422 (GRCm39)	S316T	probably benign	Het
Serpinb9e	T	C	13: 33,441,767 (GRCm39)	L233P	probably damaging	Het
Set	T	A	2: 29,959,422 (GRCm39)	S132T	possibly damaging	Het
Slc17a4	C	T	13: 24,092,800 (GRCm39)	E11K	possibly damaging	Het
Slc22a6	T	A	19: 8,595,917 (GRCm39)	N86K	possibly damaging	Het
Slco1a6	A	G	6: 142,032,325 (GRCm39)	L600P	probably damaging	Het
Sp8	A	G	12: 118,812,246 (GRCm39)	K34E	possibly damaging	Het
Spen	T	A	4: 141,198,796 (GRCm39)	E3254V	probably benign	Het
Tcf12	G	A	9: 71,792,525 (GRCm39)	P53S	probably damaging	Het
Tcf3	A	G	10: 80,246,045 (GRCm39)	V626A	probably damaging	Het
Trpc4ap	A	G	2: 155,514,908 (GRCm39)		probably null	Het
Ttc3	T	A	16: 94,230,479 (GRCm39)	V892D	probably damaging	Het
Tub	G	T	7: 108,625,978 (GRCm39)	R243L	possibly damaging	Het
Tubgcp5	A	G	7: 55,473,433 (GRCm39)	Y837C	probably damaging	Het
Utp25	A	T	1: 192,810,687 (GRCm39)	D105E	probably benign	Het
Wdhd1	A	T	14: 47,506,181 (GRCm39)	Y244*	probably null	Het
Xdh	T	A	17: 74,232,027 (GRCm39)	T228S	probably benign	Het
Zfp418	A	C	7: 7,185,534 (GRCm39)	Q499P	probably benign	Het
Zfpm1	G	A	8: 123,062,269 (GRCm39)	E443K	possibly damaging	Het
Zfy1	T	C	Y: 725,950 (GRCm39)	H605R	possibly damaging	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
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
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'- ACGCTTCTGAAGAGTGTGGG -3'
(R):5'- TCCCTGGAAGAGACCCTATTAC -3'

Sequencing Primer
(F):5'- AGTGTGGGTCTCGTGAAAACC -3'
(R):5'- TTACCAGGTCTTCAAGAGGCTAGC -3'

Posted On

2016-08-04