Incidental Mutation 'R6043:Pcare'
| ID |
483685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcare
|
| Ensembl Gene |
ENSMUSG00000044375 |
| Gene Name |
photoreceptor cilium actin regulator |
| Synonyms |
BC027072 |
| MMRRC Submission |
044211-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6043 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
72050919-72059904 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72057037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 880
(D880G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057405]
|
| AlphaFold |
Q6PAC4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057405
AA Change: D880G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: D880G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Retinal
|
1 |
1255 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts4 |
T |
C |
1: 171,080,170 (GRCm39) |
F44S |
probably damaging |
Het |
| Ap3b1 |
A |
T |
13: 94,613,501 (GRCm39) |
T667S |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,819,937 (GRCm39) |
Y1516C |
probably benign |
Het |
| Ccl17 |
A |
G |
8: 95,537,100 (GRCm39) |
M1V |
probably null |
Het |
| Cfhr1 |
T |
A |
1: 139,478,606 (GRCm39) |
T255S |
probably benign |
Het |
| Clcn6 |
T |
C |
4: 148,093,245 (GRCm39) |
N812D |
probably damaging |
Het |
| Cyp2b10 |
T |
C |
7: 25,616,764 (GRCm39) |
F402L |
probably damaging |
Het |
| Dgkz |
A |
C |
2: 91,766,234 (GRCm39) |
S776A |
probably benign |
Het |
| Dnaaf2 |
A |
T |
12: 69,244,122 (GRCm39) |
L313Q |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,878,924 (GRCm39) |
G2728S |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,178,949 (GRCm39) |
M874K |
probably benign |
Het |
| Eef1akmt3 |
A |
T |
10: 126,869,147 (GRCm39) |
L109Q |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,530,434 (GRCm39) |
S243P |
probably benign |
Het |
| Fbxw21 |
T |
C |
9: 108,974,607 (GRCm39) |
I304M |
possibly damaging |
Het |
| Fcgr4 |
T |
C |
1: 170,847,699 (GRCm39) |
V99A |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,356,193 (GRCm39) |
E417G |
probably damaging |
Het |
| Flnc |
G |
T |
6: 29,446,607 (GRCm39) |
G939V |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,315,436 (GRCm39) |
M1173V |
probably benign |
Het |
| Hspa2 |
C |
T |
12: 76,453,096 (GRCm39) |
H597Y |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,870,212 (GRCm39) |
T64I |
probably benign |
Het |
| Kif16b |
A |
G |
2: 142,553,820 (GRCm39) |
S993P |
probably damaging |
Het |
| Kitl |
T |
A |
10: 99,899,947 (GRCm39) |
V84E |
probably damaging |
Het |
| Klra17 |
A |
G |
6: 129,849,150 (GRCm39) |
|
probably null |
Het |
| Map2k3 |
A |
G |
11: 60,837,572 (GRCm39) |
D224G |
probably benign |
Het |
| Medag |
T |
G |
5: 149,345,672 (GRCm39) |
F4V |
probably benign |
Het |
| Mob3b |
C |
T |
4: 34,985,993 (GRCm39) |
V182I |
probably benign |
Het |
| Mvb12b |
G |
T |
2: 33,764,402 (GRCm39) |
T49K |
probably damaging |
Het |
| Naaladl2 |
A |
G |
3: 24,112,378 (GRCm39) |
V568A |
possibly damaging |
Het |
| Nbea |
T |
C |
3: 55,693,896 (GRCm39) |
E2174G |
probably benign |
Het |
| Nmd3 |
T |
C |
3: 69,652,580 (GRCm39) |
Y389H |
probably benign |
Het |
| Or13g1 |
A |
G |
7: 85,955,547 (GRCm39) |
I258T |
probably damaging |
Het |
| Or4p19 |
C |
T |
2: 88,242,589 (GRCm39) |
E138K |
probably benign |
Het |
| Pcdh1 |
T |
A |
18: 38,336,327 (GRCm39) |
N103Y |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,781,815 (GRCm39) |
D1905G |
possibly damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,667 (GRCm39) |
F619S |
probably damaging |
Het |
| Ptdss1 |
T |
A |
13: 67,111,433 (GRCm39) |
D166E |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,332,927 (GRCm39) |
V2713A |
probably damaging |
Het |
| Sema4f |
T |
C |
6: 82,896,634 (GRCm39) |
N200D |
probably damaging |
Het |
| Tjp1 |
A |
T |
7: 64,973,837 (GRCm39) |
N472K |
probably damaging |
Het |
| Trav6n-5 |
T |
C |
14: 53,342,608 (GRCm39) |
Y49H |
probably benign |
Het |
| Trbv2 |
A |
G |
6: 41,024,904 (GRCm39) |
T107A |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,643,933 (GRCm39) |
N1177S |
possibly damaging |
Het |
| Vmn1r212 |
A |
G |
13: 23,068,258 (GRCm39) |
V25A |
probably damaging |
Het |
| Zfhx4 |
T |
G |
3: 5,468,487 (GRCm39) |
S2882A |
probably benign |
Het |
| Zswim5 |
A |
C |
4: 116,819,818 (GRCm39) |
S408R |
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 |
|
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 |
|
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'- CTGCTATAGTCTCTGCTCGG -3'
(R):5'- TCTGAGAGTGAAGACATTAGCG -3'
Sequencing Primer
(F):5'- ATAGTCTCTGCTCGGGCCTG -3'
(R):5'- GGAGGACCTAGAGAACCTCC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation