Incidental Mutation 'R0736:Pcare'
| ID |
67310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcare
|
| Ensembl Gene |
ENSMUSG00000044375 |
| Gene Name |
photoreceptor cilium actin regulator |
| Synonyms |
BC027072 |
| MMRRC Submission |
038917-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R0736 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
72050919-72059904 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72051659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1231
(V1231A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057405]
|
| AlphaFold |
Q6PAC4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057405
AA Change: V1231A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: V1231A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Retinal
|
1 |
1255 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.6%
- 20x: 95.3%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amn1 |
G |
A |
6: 149,084,970 (GRCm39) |
H37Y |
possibly damaging |
Het |
| Cacna2d3 |
A |
T |
14: 28,780,585 (GRCm39) |
H644Q |
probably benign |
Het |
| Calb1 |
G |
A |
4: 15,898,917 (GRCm39) |
V138M |
probably benign |
Het |
| Cep55 |
C |
A |
19: 38,061,765 (GRCm39) |
T402N |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,875,078 (GRCm39) |
A26T |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,731,811 (GRCm39) |
V1481I |
possibly damaging |
Het |
| Dmxl2 |
C |
T |
9: 54,286,101 (GRCm39) |
V2695I |
probably damaging |
Het |
| Elapor2 |
A |
T |
5: 9,491,745 (GRCm39) |
S702C |
probably damaging |
Het |
| Heatr5a |
A |
C |
12: 51,943,344 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,500,432 (GRCm39) |
M461I |
probably benign |
Het |
| Mapk9 |
G |
A |
11: 49,774,081 (GRCm39) |
D413N |
possibly damaging |
Het |
| Morc4 |
G |
T |
X: 138,755,700 (GRCm39) |
Q239K |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,877,813 (GRCm39) |
V488D |
unknown |
Het |
| Neb |
A |
T |
2: 52,082,024 (GRCm39) |
Y24N |
probably damaging |
Het |
| Neo1 |
G |
A |
9: 58,824,364 (GRCm39) |
P688L |
possibly damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,783,375 (GRCm39) |
D409V |
probably damaging |
Het |
| Pde7a |
T |
C |
3: 19,285,207 (GRCm39) |
N327D |
probably damaging |
Het |
| Pdzd8 |
C |
A |
19: 59,333,365 (GRCm39) |
V219L |
probably damaging |
Het |
| Pgc |
T |
A |
17: 48,039,705 (GRCm39) |
M33K |
probably damaging |
Het |
| Pik3ap1 |
T |
A |
19: 41,320,758 (GRCm39) |
T154S |
possibly damaging |
Het |
| Polm |
G |
C |
11: 5,785,495 (GRCm39) |
S188C |
possibly damaging |
Het |
| Slfn1 |
A |
T |
11: 83,011,907 (GRCm39) |
T8S |
probably benign |
Het |
| St8sia6 |
C |
T |
2: 13,673,696 (GRCm39) |
V179M |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,469,474 (GRCm39) |
F274I |
possibly damaging |
Het |
| Tspan5 |
T |
C |
3: 138,574,159 (GRCm39) |
|
probably null |
Het |
| Utp14b |
A |
G |
1: 78,642,989 (GRCm39) |
K296E |
probably damaging |
Het |
| Zbtb14 |
A |
G |
17: 69,694,797 (GRCm39) |
E165G |
possibly damaging |
Het |
| Zbtb17 |
C |
A |
4: 141,189,097 (GRCm39) |
H6N |
probably damaging |
Het |
| Zw10 |
C |
T |
9: 48,975,432 (GRCm39) |
H286Y |
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 |
|
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'- TTCAAGATCCTTCCAAGTCAACCGC -3'
(R):5'- TGCAGAACCGACAATCTGGCCTTC -3'
Sequencing Primer
(F):5'- GTGTGAACACGTCACTAGTACTTC -3'
(R):5'- GACAATCTGGCCTTCCAAGTG -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation