Incidental Mutation 'R7848:Pcare'
ID |
606763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcare
|
Ensembl Gene |
ENSMUSG00000044375 |
Gene Name |
photoreceptor cilium actin regulator |
Synonyms |
BC027072 |
MMRRC Submission |
045902-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R7848 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
72050919-72059904 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72056188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1163
(D1163G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051871
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057405]
|
AlphaFold |
Q6PAC4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057405
AA Change: D1163G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000051871 Gene: ENSMUSG00000044375 AA Change: D1163G
Domain | Start | End | E-Value | Type |
Pfam:Retinal
|
1 |
1255 |
N/A |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (62/62) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
C |
T |
5: 113,340,007 (GRCm39) |
A2T |
probably damaging |
Het |
Abca3 |
G |
T |
17: 24,603,506 (GRCm39) |
G566V |
probably damaging |
Het |
Aff4 |
C |
A |
11: 53,295,339 (GRCm39) |
N846K |
probably benign |
Het |
Aldh1l2 |
C |
T |
10: 83,335,707 (GRCm39) |
R714Q |
probably benign |
Het |
Cbln1 |
T |
C |
8: 88,198,328 (GRCm39) |
T126A |
probably damaging |
Het |
Ccdc85a |
A |
G |
11: 28,346,123 (GRCm39) |
S446P |
possibly damaging |
Het |
Ccdc87 |
A |
G |
19: 4,891,536 (GRCm39) |
Q676R |
probably damaging |
Het |
Cenatac |
A |
G |
9: 44,324,939 (GRCm39) |
S139P |
probably damaging |
Het |
Col26a1 |
T |
C |
5: 136,775,907 (GRCm39) |
K349E |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,805,385 (GRCm39) |
I1174V |
unknown |
Het |
Cyth1 |
TGGGCAA |
T |
11: 118,074,749 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
A |
G |
18: 49,973,557 (GRCm39) |
D64G |
possibly damaging |
Het |
Dnajc15 |
T |
C |
14: 78,077,643 (GRCm39) |
H114R |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,224,961 (GRCm39) |
F1390S |
probably damaging |
Het |
F5 |
T |
C |
1: 163,989,446 (GRCm39) |
I116T |
possibly damaging |
Het |
Fam120b |
T |
C |
17: 15,626,036 (GRCm39) |
V463A |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 38,942,000 (GRCm39) |
M298V |
probably benign |
Het |
Fhad1 |
A |
T |
4: 141,632,913 (GRCm39) |
M1197K |
probably benign |
Het |
Fn1 |
T |
A |
1: 71,689,760 (GRCm39) |
I127F |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,596,728 (GRCm39) |
|
probably benign |
Het |
Gabpb2 |
A |
T |
3: 95,097,959 (GRCm39) |
V238E |
probably damaging |
Het |
Gnpat |
C |
A |
8: 125,613,630 (GRCm39) |
Q626K |
possibly damaging |
Het |
Gstm7 |
A |
T |
3: 107,835,902 (GRCm39) |
|
probably null |
Het |
Gys2 |
G |
T |
6: 142,391,741 (GRCm39) |
S507* |
probably null |
Het |
Ippk |
T |
A |
13: 49,596,972 (GRCm39) |
|
probably null |
Het |
Itga8 |
T |
A |
2: 12,196,548 (GRCm39) |
N623I |
probably damaging |
Het |
Kcnb1 |
A |
G |
2: 166,948,188 (GRCm39) |
F220S |
probably damaging |
Het |
Kiz |
T |
A |
2: 146,731,100 (GRCm39) |
S197T |
probably benign |
Het |
Klhl42 |
A |
G |
6: 147,009,598 (GRCm39) |
N479S |
probably damaging |
Het |
Lims2 |
A |
G |
18: 32,091,301 (GRCm39) |
*60W |
probably null |
Het |
Lrch4 |
A |
G |
5: 137,632,116 (GRCm39) |
N124S |
probably damaging |
Het |
Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
Map3k13 |
T |
C |
16: 21,724,621 (GRCm39) |
V373A |
probably damaging |
Het |
Mapkapk5 |
A |
G |
5: 121,683,232 (GRCm39) |
I11T |
probably benign |
Het |
Mroh2b |
C |
T |
15: 4,967,861 (GRCm39) |
Q967* |
probably null |
Het |
Mthfd1l |
A |
G |
10: 4,033,739 (GRCm39) |
T709A |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,232,188 (GRCm39) |
T939A |
possibly damaging |
Het |
Ncam2 |
C |
T |
16: 81,287,267 (GRCm39) |
H394Y |
probably benign |
Het |
Ncoa7 |
A |
T |
10: 30,524,414 (GRCm39) |
N161K |
possibly damaging |
Het |
Nr2c1 |
C |
T |
10: 94,026,508 (GRCm39) |
S461L |
probably benign |
Het |
Nrg3 |
T |
C |
14: 38,390,240 (GRCm39) |
E323G |
probably damaging |
Het |
Nufip1 |
G |
A |
14: 76,351,661 (GRCm39) |
R172H |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,111,212 (GRCm39) |
T1705A |
probably benign |
Het |
Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
Ogfr |
T |
C |
2: 180,234,226 (GRCm39) |
L99P |
probably damaging |
Het |
Or10am5 |
T |
C |
7: 6,517,861 (GRCm39) |
D189G |
probably damaging |
Het |
Or51a43 |
T |
A |
7: 103,717,302 (GRCm39) |
N312I |
probably benign |
Het |
Pcdh18 |
A |
T |
3: 49,710,446 (GRCm39) |
S290T |
possibly damaging |
Het |
Pklr |
T |
G |
3: 89,050,285 (GRCm39) |
I378S |
possibly damaging |
Het |
Rbm12 |
A |
T |
2: 155,938,136 (GRCm39) |
M712K |
probably benign |
Het |
Rnase10 |
T |
C |
14: 51,246,970 (GRCm39) |
V116A |
possibly damaging |
Het |
Scube3 |
T |
C |
17: 28,384,569 (GRCm39) |
L621P |
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,246,280 (GRCm39) |
I51V |
probably benign |
Het |
Smcr8 |
A |
G |
11: 60,670,750 (GRCm39) |
T633A |
probably benign |
Het |
St18 |
T |
C |
1: 6,927,669 (GRCm39) |
|
probably null |
Het |
Tm9sf4 |
T |
A |
2: 153,044,275 (GRCm39) |
I509N |
probably damaging |
Het |
Tmcc2 |
T |
C |
1: 132,288,359 (GRCm39) |
K443E |
probably damaging |
Het |
Tmem98 |
T |
G |
11: 80,710,758 (GRCm39) |
V139G |
probably damaging |
Het |
Trgv5 |
G |
A |
13: 19,376,849 (GRCm39) |
V99I |
probably damaging |
Het |
Ttll1 |
T |
C |
15: 83,381,573 (GRCm39) |
E232G |
probably damaging |
Het |
Zfp442 |
T |
C |
2: 150,253,146 (GRCm39) |
N39D |
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 |
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 |
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'- TCTTCCTTTGGAACACGGTTTG -3'
(R):5'- AAAGCATCCAGGAACACGTG -3'
Sequencing Primer
(F):5'- CCTTTGGAACACGGTTTGAAATC -3'
(R):5'- GAACACGTGTTCCATATTCTATCCAG -3'
|
Posted On |
2019-12-20 |