Mutagenetix > Incidental Mutation

Incidental Mutation 'R2997:Pcare'

257210

Institutional Source

Beutler Lab

Gene Symbol

Pcare

Ensembl Gene

ENSMUSG00000044375

Gene Name

photoreceptor cilium actin regulator

Synonyms

BC027072

Accession Numbers

Essential gene?

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

Stock #

R2997 (G1)

Quality Score

109

Status

Not validated

Chromosome

Chromosomal Location

72050919-72059904 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

ACTGCTGCTGCTGCTGCTGCTGC to ACTGCTGCTGCTGCTGCTGC at 72051706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000051871 (fasta)

Gene Model

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

AlphaFold

Q6PAC4

Predicted Effect

probably benign
Transcript: ENSMUST00000057405

SMART Domains

Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	A	T	3: 148,523,285 (GRCm39)	V82E	probably damaging	Het
Ahcyl	G	A	16: 45,974,288 (GRCm39)	T363I	possibly damaging	Het
Arid5b	C	T	10: 67,934,292 (GRCm39)	G294S	probably benign	Het
Arl6	A	T	16: 59,444,239 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Elp4	A	G	2: 105,644,661 (GRCm39)	F228L	possibly damaging	Het
Fndc3b	A	C	3: 27,523,021 (GRCm39)	D519E	probably benign	Het
Gbp9	T	A	5: 105,230,635 (GRCm39)	I430F	probably benign	Het
Lgr4	A	T	2: 109,833,862 (GRCm39)	E369D	probably benign	Het
Lrguk	T	A	6: 34,050,697 (GRCm39)	V385D	probably damaging	Het
Mier1	T	A	4: 102,988,233 (GRCm39)	D52E	probably damaging	Het
Mthfd1	G	T	12: 76,361,810 (GRCm39)	V139F	probably benign	Het
Myg1	G	T	15: 102,245,945 (GRCm39)	R315L	probably null	Het
Tchh	CACGCGAGGAACGCGAGGAAC	CACGCGAGGAAC	3: 93,355,057 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,716,350 (GRCm39)		probably benign	Het
Tyw5	T	C	1: 57,427,800 (GRCm39)	D268G	probably 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
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
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'- GAGTCAAGATATTTCCTTGTGCTGG -3'
(R):5'- CGACAATCTGGCCTTCCAAG -3'

Sequencing Primer
(F):5'- CTGGGGCTGTGACTCTGGC -3'
(R):5'- CAATCTGGCCTTCCAAGTGTGATATG -3'

Posted On

2015-01-11