Incidental Mutation 'R0367:Pcare'
| ID |
30298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcare
|
| Ensembl Gene |
ENSMUSG00000044375 |
| Gene Name |
photoreceptor cilium actin regulator |
| Synonyms |
BC027072 |
| MMRRC Submission |
038573-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R0367 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
72050919-72059904 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72057471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 735
(F735L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057405]
|
| AlphaFold |
Q6PAC4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057405
AA Change: F735L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: F735L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Retinal
|
1 |
1255 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.2682 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
100% (60/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,049,961 (GRCm39) |
S12P |
probably damaging |
Het |
| Alx4 |
T |
A |
2: 93,498,953 (GRCm39) |
D228E |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 98,177,455 (GRCm39) |
E71G |
probably benign |
Het |
| Arhgap19 |
C |
A |
19: 41,790,417 (GRCm39) |
G17V |
probably benign |
Het |
| C8a |
A |
C |
4: 104,719,791 (GRCm39) |
|
probably null |
Het |
| Ccne2 |
T |
A |
4: 11,201,426 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
G |
A |
19: 6,361,425 (GRCm39) |
C317Y |
probably damaging |
Het |
| Cend1 |
C |
A |
7: 141,007,808 (GRCm39) |
R4L |
probably damaging |
Het |
| Cfap44 |
T |
C |
16: 44,253,839 (GRCm39) |
|
probably null |
Het |
| Cpt1c |
T |
C |
7: 44,608,999 (GRCm39) |
N774S |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 15,967,270 (GRCm39) |
D3198N |
probably damaging |
Het |
| Dapk2 |
C |
T |
9: 66,176,168 (GRCm39) |
S323F |
probably damaging |
Het |
| Ddx60 |
T |
G |
8: 62,470,783 (GRCm39) |
I1425R |
possibly damaging |
Het |
| Edem1 |
T |
A |
6: 108,823,713 (GRCm39) |
Y370N |
probably damaging |
Het |
| Elp5 |
A |
G |
11: 69,865,967 (GRCm39) |
V103A |
probably benign |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,477,350 (GRCm39) |
D2132G |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,182,919 (GRCm39) |
|
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,053,791 (GRCm39) |
D57N |
probably damaging |
Het |
| Gpr161 |
T |
C |
1: 165,144,805 (GRCm39) |
|
probably benign |
Het |
| Gstcd |
G |
A |
3: 132,692,138 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
A |
T |
2: 104,261,594 (GRCm39) |
C980* |
probably null |
Het |
| Htr2a |
A |
T |
14: 74,879,649 (GRCm39) |
I93L |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,135,506 (GRCm39) |
K1775N |
probably damaging |
Het |
| Kcnt1 |
G |
A |
2: 25,797,640 (GRCm39) |
V864I |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,278,963 (GRCm39) |
Y38F |
probably damaging |
Het |
| Limch1 |
G |
A |
5: 67,015,297 (GRCm39) |
|
probably null |
Het |
| Lmtk2 |
C |
T |
5: 144,111,103 (GRCm39) |
R608C |
possibly damaging |
Het |
| Loxhd1 |
C |
T |
18: 77,513,453 (GRCm39) |
|
probably benign |
Het |
| Lpin2 |
A |
T |
17: 71,522,017 (GRCm39) |
E17V |
probably damaging |
Het |
| Lrrc34 |
A |
T |
3: 30,684,142 (GRCm39) |
F342I |
probably benign |
Het |
| Lyzl6 |
A |
G |
11: 103,527,578 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
C |
17: 12,476,928 (GRCm39) |
|
probably benign |
Het |
| Mocs3 |
C |
T |
2: 168,073,602 (GRCm39) |
P350S |
probably benign |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Or1ad8 |
A |
G |
11: 50,897,904 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or4c52 |
A |
C |
2: 89,846,116 (GRCm39) |
I281L |
probably damaging |
Het |
| Or7e168 |
G |
T |
9: 19,719,839 (GRCm39) |
S75I |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,655,538 (GRCm39) |
E477G |
possibly damaging |
Het |
| Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
| Rims2 |
G |
T |
15: 39,326,011 (GRCm39) |
|
probably null |
Het |
| Samd4b |
C |
T |
7: 28,122,873 (GRCm39) |
A62T |
probably damaging |
Het |
| Scamp1 |
T |
C |
13: 94,347,088 (GRCm39) |
N192S |
probably benign |
Het |
| Scnn1g |
T |
C |
7: 121,345,802 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
T |
G |
7: 127,387,358 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,257,192 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,250,823 (GRCm39) |
S415P |
probably benign |
Het |
| Sp140l2 |
G |
T |
1: 85,247,824 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
A |
T |
6: 29,937,650 (GRCm39) |
Y526F |
possibly damaging |
Het |
| Styxl2 |
T |
A |
1: 165,928,332 (GRCm39) |
T427S |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,926,951 (GRCm39) |
D69G |
probably damaging |
Het |
| Syt13 |
C |
A |
2: 92,745,596 (GRCm39) |
A22E |
probably benign |
Het |
| Tm9sf2 |
T |
C |
14: 122,392,780 (GRCm39) |
F432S |
probably benign |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,357 (GRCm39) |
W792R |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,808,227 (GRCm39) |
S1606G |
probably benign |
Het |
| Zfp518a |
A |
T |
19: 40,900,665 (GRCm39) |
H198L |
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 |
|
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 |
|
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'- TCAGACACTTCAGCTAGAGGAAGGG -3'
(R):5'- AGTAGTGCCATCAGCAAGTTCAAGG -3'
Sequencing Primer
(F):5'- GGAAAGGGTGCAGAAGGC -3'
(R):5'- TCAGCATTTTGCCCAATCAAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation