Incidental Mutation 'R5556:Pcare'
| ID |
435414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcare
|
| Ensembl Gene |
ENSMUSG00000044375 |
| Gene Name |
photoreceptor cilium actin regulator |
| Synonyms |
BC027072 |
| MMRRC Submission |
043113-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R5556 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
72050919-72059904 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72059420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 86
(K86E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057405]
|
| AlphaFold |
Q6PAC4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057405
AA Change: K86E
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: K86E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Retinal
|
1 |
1255 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
A |
11: 72,066,026 (GRCm39) |
|
probably null |
Het |
| Abca13 |
A |
T |
11: 9,208,546 (GRCm39) |
I240F |
possibly damaging |
Het |
| Accs |
A |
G |
2: 93,666,428 (GRCm39) |
Y420H |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,773,520 (GRCm39) |
Y20H |
probably damaging |
Het |
| Adck2 |
T |
C |
6: 39,560,869 (GRCm39) |
V419A |
probably benign |
Het |
| Bahd1 |
T |
A |
2: 118,746,751 (GRCm39) |
N123K |
probably damaging |
Het |
| Cast |
A |
G |
13: 74,844,008 (GRCm39) |
|
probably null |
Het |
| Cd164l2 |
T |
A |
4: 132,951,016 (GRCm39) |
V157E |
probably damaging |
Het |
| Cdk11b |
C |
T |
4: 155,718,604 (GRCm39) |
Q185* |
probably null |
Het |
| Ces2g |
T |
C |
8: 105,694,074 (GRCm39) |
F470S |
probably benign |
Het |
| Cherp |
C |
G |
8: 73,221,824 (GRCm39) |
Q313H |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,675,773 (GRCm39) |
V110A |
possibly damaging |
Het |
| Cndp2 |
A |
G |
18: 84,690,249 (GRCm39) |
V231A |
probably benign |
Het |
| Cst7 |
A |
T |
2: 150,412,488 (GRCm39) |
H17L |
probably benign |
Het |
| Decr1 |
C |
T |
4: 15,919,244 (GRCm39) |
D300N |
probably damaging |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dgkb |
T |
G |
12: 38,177,363 (GRCm39) |
V230G |
probably damaging |
Het |
| Dis3l2 |
T |
C |
1: 86,901,126 (GRCm39) |
V439A |
possibly damaging |
Het |
| Disp3 |
C |
T |
4: 148,342,614 (GRCm39) |
G612D |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,832,972 (GRCm39) |
T1962A |
probably damaging |
Het |
| Entrep2 |
A |
G |
7: 64,505,957 (GRCm39) |
F96S |
probably damaging |
Het |
| Fibp |
T |
A |
19: 5,514,227 (GRCm39) |
V304E |
possibly damaging |
Het |
| Flt3 |
T |
A |
5: 147,269,807 (GRCm39) |
|
probably null |
Het |
| Kifc3 |
G |
A |
8: 95,835,087 (GRCm39) |
Q233* |
probably null |
Het |
| Klhl42 |
C |
A |
6: 147,009,610 (GRCm39) |
S483Y |
probably benign |
Het |
| Map3k19 |
G |
A |
1: 127,762,284 (GRCm39) |
R276* |
probably null |
Het |
| Mecom |
A |
G |
3: 30,292,249 (GRCm39) |
S87P |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,218,664 (GRCm39) |
V416A |
probably benign |
Het |
| Mepe |
G |
A |
5: 104,486,078 (GRCm39) |
G406D |
probably damaging |
Het |
| Met |
T |
G |
6: 17,534,175 (GRCm39) |
L673V |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,315,267 (GRCm39) |
Y306* |
probably null |
Het |
| Nrxn2 |
C |
A |
19: 6,540,121 (GRCm39) |
A814E |
probably damaging |
Het |
| Nsmaf |
C |
T |
4: 6,398,621 (GRCm39) |
V828I |
probably benign |
Het |
| Or2j3 |
T |
A |
17: 38,615,964 (GRCm39) |
K129N |
possibly damaging |
Het |
| Or9r7 |
A |
T |
10: 129,962,728 (GRCm39) |
L66H |
probably damaging |
Het |
| Panx1 |
A |
G |
9: 14,918,929 (GRCm39) |
I310T |
possibly damaging |
Het |
| Pcdhb6 |
T |
A |
18: 37,467,442 (GRCm39) |
L121Q |
probably damaging |
Het |
| Plekha7 |
G |
A |
7: 115,763,384 (GRCm39) |
T406I |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,758,986 (GRCm39) |
S447P |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,087,054 (GRCm39) |
Y267C |
probably damaging |
Het |
| Rbpjl |
A |
G |
2: 164,249,982 (GRCm39) |
T134A |
probably benign |
Het |
| Relch |
C |
A |
1: 105,620,892 (GRCm39) |
Q456K |
probably benign |
Het |
| Rpe |
C |
A |
1: 66,745,625 (GRCm39) |
T55N |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,155,141 (GRCm39) |
D606G |
probably benign |
Het |
| Setd5 |
T |
A |
6: 113,124,463 (GRCm39) |
N1105K |
probably benign |
Het |
| Sh3d21 |
T |
C |
4: 126,056,029 (GRCm39) |
N126D |
possibly damaging |
Het |
| Shank1 |
A |
G |
7: 43,993,739 (GRCm39) |
|
probably benign |
Het |
| Srgap3 |
T |
A |
6: 112,716,039 (GRCm39) |
D627V |
probably damaging |
Het |
| Tacc2 |
T |
A |
7: 130,276,336 (GRCm39) |
S1796T |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,344,870 (GRCm39) |
V217I |
probably damaging |
Het |
| Trgc4 |
A |
T |
13: 19,536,477 (GRCm39) |
R178S |
unknown |
Het |
| Tspan10 |
A |
T |
11: 120,335,541 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Usp3 |
G |
A |
9: 66,451,303 (GRCm39) |
T153M |
possibly damaging |
Het |
| Xdh |
G |
T |
17: 74,204,759 (GRCm39) |
T1067K |
probably benign |
Het |
| Zfp334 |
T |
C |
2: 165,222,504 (GRCm39) |
D513G |
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 |
|
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'- CCTTTGACTCAGTAGCCGATTG -3'
(R):5'- AATTTTGCCAGGATGTCAGTGG -3'
Sequencing Primer
(F):5'- ATTGGCGGCAATGGTCC -3'
(R):5'- ATGTCAGTGGGGCAGCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation