Incidental Mutation 'R5527:Pcare'
| ID |
431958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcare
|
| Ensembl Gene |
ENSMUSG00000044375 |
| Gene Name |
photoreceptor cilium actin regulator |
| Synonyms |
BC027072 |
| MMRRC Submission |
043085-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5527 (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 T
at 72059635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 14
(V14D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057405]
|
| AlphaFold |
Q6PAC4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057405
AA Change: V14D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: V14D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Retinal
|
1 |
1255 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 94.9%
- 20x: 89.7%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,278,842 (GRCm39) |
Y1051N |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,516,433 (GRCm39) |
S325P |
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,960,786 (GRCm39) |
S1529P |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,396,134 (GRCm39) |
L168P |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,303,318 (GRCm39) |
F153S |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,730,401 (GRCm39) |
M426T |
probably benign |
Het |
| Cdk7 |
C |
T |
13: 100,866,980 (GRCm39) |
V38I |
probably damaging |
Het |
| Cenpj |
T |
C |
14: 56,764,440 (GRCm39) |
Y1324C |
probably damaging |
Het |
| Cplane2 |
C |
A |
4: 140,947,303 (GRCm39) |
A228D |
probably damaging |
Het |
| Ddx47 |
C |
A |
6: 134,988,657 (GRCm39) |
A18E |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,328,014 (GRCm39) |
Q3370* |
probably null |
Het |
| Dnah6 |
C |
T |
6: 73,136,212 (GRCm39) |
V976I |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,842,105 (GRCm39) |
|
probably benign |
Het |
| Dpy19l3 |
A |
T |
7: 35,413,555 (GRCm39) |
I362N |
possibly damaging |
Het |
| Fam118a |
A |
T |
15: 84,942,999 (GRCm39) |
T343S |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,793,060 (GRCm39) |
D1021E |
probably benign |
Het |
| Fkbp1b |
T |
C |
12: 4,883,746 (GRCm39) |
Y83C |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,525,581 (GRCm39) |
I709T |
probably damaging |
Het |
| Gga3 |
G |
T |
11: 115,478,262 (GRCm39) |
A510D |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,417,641 (GRCm39) |
I264T |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,419,829 (GRCm39) |
I384T |
probably benign |
Het |
| Hes2 |
T |
C |
4: 152,244,849 (GRCm39) |
V106A |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,857,569 (GRCm39) |
M1083K |
probably damaging |
Het |
| Il7r |
A |
T |
15: 9,513,010 (GRCm39) |
D166E |
probably benign |
Het |
| Ipo4 |
G |
A |
14: 55,869,507 (GRCm39) |
|
probably null |
Het |
| Klk1b26 |
T |
C |
7: 43,662,187 (GRCm39) |
I15T |
probably benign |
Het |
| Krt42 |
T |
C |
11: 100,154,121 (GRCm39) |
|
probably benign |
Het |
| Lag3 |
T |
C |
6: 124,885,592 (GRCm39) |
T263A |
probably damaging |
Het |
| Lilra6 |
T |
A |
7: 3,917,586 (GRCm39) |
|
probably benign |
Het |
| Lrrc31 |
T |
A |
3: 30,745,377 (GRCm39) |
H90L |
probably damaging |
Het |
| Lvrn |
G |
A |
18: 47,006,870 (GRCm39) |
D331N |
probably damaging |
Het |
| Me2 |
A |
T |
18: 73,924,187 (GRCm39) |
W342R |
probably damaging |
Het |
| Mob2 |
A |
G |
7: 141,563,147 (GRCm39) |
F220S |
probably damaging |
Het |
| Mroh4 |
A |
G |
15: 74,486,865 (GRCm39) |
I342T |
probably damaging |
Het |
| Naa15 |
T |
C |
3: 51,349,368 (GRCm39) |
Y46H |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,224,465 (GRCm39) |
V10A |
unknown |
Het |
| Nlrc5 |
A |
G |
8: 95,217,044 (GRCm39) |
H1011R |
probably damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,041,921 (GRCm39) |
T2A |
possibly damaging |
Het |
| Nrros |
T |
C |
16: 31,963,288 (GRCm39) |
N207S |
probably damaging |
Het |
| Or52m2 |
A |
T |
7: 102,263,768 (GRCm39) |
S143T |
probably benign |
Het |
| Or7c70 |
C |
T |
10: 78,683,609 (GRCm39) |
V47M |
probably benign |
Het |
| Ptprz1 |
C |
T |
6: 23,000,052 (GRCm39) |
T714I |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,416,616 (GRCm39) |
T1499A |
possibly damaging |
Het |
| Rubcn |
T |
C |
16: 32,647,081 (GRCm39) |
K771E |
probably damaging |
Het |
| Sbds |
T |
C |
5: 130,275,247 (GRCm39) |
E227G |
possibly damaging |
Het |
| Setd1a |
C |
T |
7: 127,384,801 (GRCm39) |
P8S |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,144,932 (GRCm39) |
I1129V |
probably benign |
Het |
| Spef1 |
T |
A |
2: 131,014,661 (GRCm39) |
D87V |
probably damaging |
Het |
| Supv3l1 |
C |
T |
10: 62,265,608 (GRCm39) |
R644Q |
probably damaging |
Het |
| Thoc6 |
A |
G |
17: 23,889,769 (GRCm39) |
F51S |
probably damaging |
Het |
| Tm4sf19 |
T |
C |
16: 32,226,739 (GRCm39) |
L176P |
probably damaging |
Het |
| Tma16 |
A |
G |
8: 66,936,776 (GRCm39) |
I17T |
possibly damaging |
Het |
| Tpd52l2 |
G |
A |
2: 181,143,847 (GRCm39) |
|
probably null |
Het |
| Ube2j1 |
C |
T |
4: 33,045,164 (GRCm39) |
P146S |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,208,099 (GRCm39) |
I4960N |
possibly damaging |
Het |
| Usp13 |
A |
G |
3: 32,919,987 (GRCm39) |
D224G |
probably damaging |
Het |
| Uxs1 |
T |
C |
1: 43,819,240 (GRCm39) |
T188A |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,234,483 (GRCm39) |
Y576* |
probably null |
Het |
| Vmn2r73 |
T |
C |
7: 85,507,575 (GRCm39) |
D579G |
possibly damaging |
Het |
| Xpr1 |
T |
C |
1: 155,165,981 (GRCm39) |
N524D |
probably benign |
Het |
| Xrn2 |
A |
T |
2: 146,871,675 (GRCm39) |
I366L |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,676,159 (GRCm39) |
V386E |
possibly damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,261 (GRCm39) |
L2261Q |
probably damaging |
Het |
| Zpld1 |
C |
G |
16: 55,046,725 (GRCm39) |
E415Q |
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 |
|
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 |
|
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'- ACCTTCCATAGCTTTTGGGAGC -3'
(R):5'- CTTTGTACTGTGGACTCCCAG -3'
Sequencing Primer
(F):5'- CTTTTGGGAGCTGACGAACAC -3'
(R):5'- CAGTCTAGTCTCAAGTTGTCCAGATG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation