Incidental Mutation 'R8317:Pcare'
| ID |
641783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcare
|
| Ensembl Gene |
ENSMUSG00000044375 |
| Gene Name |
photoreceptor cilium actin regulator |
| Synonyms |
BC027072 |
| MMRRC Submission |
067721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R8317 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
72050919-72059904 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 72056197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 1160
(L1160R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057405]
|
| AlphaFold |
Q6PAC4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057405
AA Change: L1160R
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: L1160R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Retinal
|
1 |
1255 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,723,236 (GRCm39) |
V621M |
probably damaging |
Het |
| Adipor1 |
C |
T |
1: 134,355,905 (GRCm39) |
R235W |
probably benign |
Het |
| Agbl1 |
T |
A |
7: 76,071,929 (GRCm39) |
M594K |
unknown |
Het |
| Ang2 |
A |
G |
14: 51,433,349 (GRCm39) |
V11A |
probably benign |
Het |
| Ccl25 |
A |
G |
8: 4,404,138 (GRCm39) |
N80S |
probably benign |
Het |
| Cd19 |
A |
T |
7: 126,012,615 (GRCm39) |
C259* |
probably null |
Het |
| Cd209b |
A |
T |
8: 3,972,018 (GRCm39) |
I177N |
probably damaging |
Het |
| Cdc20 |
C |
A |
4: 118,294,323 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,147,037 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
G |
A |
10: 60,272,568 (GRCm39) |
R536W |
probably damaging |
Het |
| Cfap299 |
A |
C |
5: 98,885,459 (GRCm39) |
H122P |
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,832,241 (GRCm39) |
D977G |
probably damaging |
Het |
| Cilk1 |
T |
A |
9: 78,060,933 (GRCm39) |
V193E |
probably damaging |
Het |
| Csl |
T |
G |
10: 99,594,900 (GRCm39) |
H55P |
probably damaging |
Het |
| Cstf2t |
G |
A |
19: 31,061,648 (GRCm39) |
A395T |
probably benign |
Het |
| Dhx58 |
A |
T |
11: 100,594,388 (GRCm39) |
I101N |
probably damaging |
Het |
| Dlg5 |
A |
C |
14: 24,241,298 (GRCm39) |
S200A |
probably damaging |
Het |
| Epb41 |
C |
A |
4: 131,684,961 (GRCm39) |
G86V |
|
Het |
| Fat4 |
T |
C |
3: 39,012,659 (GRCm39) |
V2318A |
possibly damaging |
Het |
| Fbxo32 |
A |
T |
15: 58,068,626 (GRCm39) |
F119I |
probably damaging |
Het |
| Flacc1 |
T |
C |
1: 58,715,707 (GRCm39) |
K170E |
possibly damaging |
Het |
| Fndc1 |
A |
T |
17: 8,019,720 (GRCm39) |
L153* |
probably null |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,866 (GRCm39) |
|
probably benign |
Het |
| Gm4559 |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
7: 141,827,553 (GRCm39) |
|
probably benign |
Het |
| Gpr63 |
A |
T |
4: 25,008,223 (GRCm39) |
T316S |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,304,538 (GRCm39) |
T665A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,848,784 (GRCm39) |
N272S |
probably damaging |
Het |
| Map3k1 |
T |
C |
13: 111,894,696 (GRCm39) |
Y660C |
probably damaging |
Het |
| Mbd3l1 |
C |
A |
9: 18,396,117 (GRCm39) |
L81I |
probably benign |
Het |
| Morc3 |
C |
A |
16: 93,659,417 (GRCm39) |
Q442K |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,569,339 (GRCm39) |
T1060I |
unknown |
Het |
| Myh11 |
T |
A |
16: 14,025,941 (GRCm39) |
D1343V |
|
Het |
| Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
| Nbn |
T |
G |
4: 15,970,893 (GRCm39) |
L292W |
probably damaging |
Het |
| Ndufb11b |
A |
G |
15: 81,864,978 (GRCm39) |
Y73C |
probably damaging |
Het |
| Nebl |
A |
G |
2: 17,355,568 (GRCm39) |
M195T |
possibly damaging |
Het |
| Net1 |
T |
C |
13: 3,957,856 (GRCm39) |
K66E |
possibly damaging |
Het |
| Nod1 |
T |
C |
6: 54,920,425 (GRCm39) |
Y631C |
probably damaging |
Het |
| Nxf1 |
A |
G |
19: 8,748,407 (GRCm39) |
H12R |
probably benign |
Het |
| Onecut3 |
T |
C |
10: 80,331,161 (GRCm39) |
L107P |
unknown |
Het |
| Opa1 |
T |
G |
16: 29,432,962 (GRCm39) |
I512S |
probably damaging |
Het |
| P3h3 |
C |
T |
6: 124,832,116 (GRCm39) |
G257R |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,592,530 (GRCm39) |
C1616R |
probably damaging |
Het |
| Parn |
T |
G |
16: 13,358,964 (GRCm39) |
K593Q |
probably damaging |
Het |
| Polr3g |
T |
C |
13: 81,826,302 (GRCm39) |
K173R |
unknown |
Het |
| Prcp |
A |
G |
7: 92,524,598 (GRCm39) |
T18A |
probably benign |
Het |
| Sash1 |
G |
A |
10: 8,605,150 (GRCm39) |
T1080M |
possibly damaging |
Het |
| Skap2 |
A |
G |
6: 51,884,865 (GRCm39) |
|
probably null |
Het |
| Spmip9 |
C |
A |
6: 70,890,276 (GRCm39) |
W172L |
possibly damaging |
Het |
| Srebf1 |
C |
A |
11: 60,091,483 (GRCm39) |
S1014I |
possibly damaging |
Het |
| Stk32b |
C |
T |
5: 37,612,319 (GRCm39) |
E356K |
probably damaging |
Het |
| Tjp3 |
T |
A |
10: 81,116,324 (GRCm39) |
T257S |
probably benign |
Het |
| Trf |
A |
G |
9: 103,094,715 (GRCm39) |
Y448H |
probably damaging |
Het |
| Tsnaxip1 |
G |
C |
8: 106,554,438 (GRCm39) |
R7P |
probably benign |
Het |
| Vmn1r208 |
G |
C |
13: 22,956,947 (GRCm39) |
I183M |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,785,834 (GRCm39) |
M724L |
probably benign |
Het |
| Wdhd1 |
A |
T |
14: 47,500,994 (GRCm39) |
H469Q |
probably damaging |
Het |
| Zbtb7a |
G |
C |
10: 80,980,784 (GRCm39) |
G326A |
probably benign |
Het |
| Zfp493 |
G |
A |
13: 67,931,958 (GRCm39) |
R19H |
probably benign |
Het |
| Zfp932 |
A |
T |
5: 110,156,922 (GRCm39) |
K207* |
probably null |
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 |
|
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 |
|
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'- CCTTTGGAACACGGTTTGAAATC -3'
(R):5'- TCTGAGGACAGTGAGGCTAC -3'
Sequencing Primer
(F):5'- TACACCCTCTGGACAGTGG -3'
(R):5'- GACAGTGAGGCTACCACAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation