Incidental Mutation 'R8941:Pcare'
| ID |
681013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcare
|
| Ensembl Gene |
ENSMUSG00000044375 |
| Gene Name |
photoreceptor cilium actin regulator |
| Synonyms |
BC027072 |
| MMRRC Submission |
068781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R8941 (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 72059137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 180
(H180R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057405]
|
| AlphaFold |
Q6PAC4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057405
AA Change: H180R
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: H180R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Retinal
|
1 |
1255 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,056,679 (GRCm39) |
T103S |
probably benign |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,784,400 (GRCm39) |
Y291C |
probably damaging |
Het |
| Aass |
A |
T |
6: 23,075,261 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,133,235 (GRCm39) |
C1284S |
probably damaging |
Het |
| Adora2a |
G |
A |
10: 75,169,559 (GRCm39) |
W341* |
probably null |
Het |
| Afg2a |
T |
A |
3: 37,486,142 (GRCm39) |
L288H |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,057,324 (GRCm39) |
R1355Q |
possibly damaging |
Het |
| Asic5 |
A |
T |
3: 81,913,915 (GRCm39) |
|
probably benign |
Het |
| Canx |
T |
C |
11: 50,195,270 (GRCm39) |
D266G |
possibly damaging |
Het |
| Cfap57 |
A |
T |
4: 118,426,799 (GRCm39) |
Y1080N |
probably damaging |
Het |
| Chat |
C |
T |
14: 32,130,963 (GRCm39) |
M559I |
probably benign |
Het |
| Chd5 |
G |
A |
4: 152,463,305 (GRCm39) |
S1425N |
possibly damaging |
Het |
| Cog8 |
T |
C |
8: 107,783,202 (GRCm39) |
D29G |
probably damaging |
Het |
| Cox15 |
A |
G |
19: 43,732,172 (GRCm39) |
S215P |
probably benign |
Het |
| Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,339,698 (GRCm39) |
V362A |
probably damaging |
Het |
| Dio1 |
C |
A |
4: 107,164,147 (GRCm39) |
A57S |
probably benign |
Het |
| F5 |
C |
A |
1: 164,026,440 (GRCm39) |
H1671N |
probably benign |
Het |
| Gm6309 |
A |
G |
5: 146,107,155 (GRCm39) |
Y64H |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,660,743 (GRCm39) |
C731R |
probably damaging |
Het |
| Hmgcl |
G |
A |
4: 135,683,015 (GRCm39) |
A156T |
probably damaging |
Het |
| Il15ra |
A |
T |
2: 11,737,995 (GRCm39) |
T210S |
possibly damaging |
Het |
| Kat8 |
T |
C |
7: 127,524,400 (GRCm39) |
L426P |
probably damaging |
Het |
| Lrrc39 |
G |
T |
3: 116,359,496 (GRCm39) |
V14L |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,869,593 (GRCm39) |
M709V |
probably benign |
Het |
| Mdm4 |
T |
C |
1: 132,919,671 (GRCm39) |
H398R |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,991,606 (GRCm39) |
Q1568L |
possibly damaging |
Het |
| Myo18b |
G |
A |
5: 113,022,795 (GRCm39) |
|
probably benign |
Het |
| Nr4a3 |
C |
A |
4: 48,051,756 (GRCm39) |
P170Q |
possibly damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,208,109 (GRCm39) |
M652V |
probably damaging |
Het |
| Or10n7-ps1 |
A |
T |
9: 39,597,812 (GRCm39) |
*143K |
probably null |
Het |
| Or5b95 |
G |
A |
19: 12,657,471 (GRCm39) |
|
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,832,815 (GRCm39) |
I325V |
possibly damaging |
Het |
| Pi4ka |
G |
T |
16: 17,114,807 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,380 (GRCm39) |
S421P |
probably damaging |
Het |
| Pou6f1 |
T |
A |
15: 100,489,742 (GRCm39) |
D74V |
probably damaging |
Het |
| Prpsap2 |
C |
A |
11: 61,627,870 (GRCm39) |
R202L |
probably damaging |
Het |
| Ptprn |
A |
T |
1: 75,228,407 (GRCm39) |
L890Q |
probably damaging |
Het |
| Ramp1 |
C |
G |
1: 91,134,137 (GRCm39) |
P97A |
probably benign |
Het |
| Rapgefl1 |
A |
G |
11: 98,731,101 (GRCm39) |
D179G |
probably damaging |
Het |
| Rbp3 |
T |
A |
14: 33,678,486 (GRCm39) |
F811L |
possibly damaging |
Het |
| Rnf213 |
C |
A |
11: 119,305,250 (GRCm39) |
L494M |
probably damaging |
Het |
| Rpl4 |
A |
G |
9: 64,082,245 (GRCm39) |
N48S |
probably benign |
Het |
| Rsbn1l |
A |
G |
5: 21,110,841 (GRCm39) |
V499A |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,430,022 (GRCm39) |
T691A |
probably benign |
Het |
| Sass6 |
T |
C |
3: 116,407,709 (GRCm39) |
V275A |
probably benign |
Het |
| Sdcbp |
T |
C |
4: 6,393,661 (GRCm39) |
S259P |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,206 (GRCm39) |
F296L |
probably benign |
Het |
| Slc12a4 |
C |
T |
8: 106,673,322 (GRCm39) |
|
probably null |
Het |
| Snrk |
G |
A |
9: 121,989,597 (GRCm39) |
V314I |
probably benign |
Het |
| Tas1r3 |
C |
T |
4: 155,947,600 (GRCm39) |
|
probably null |
Het |
| Tle3 |
T |
A |
9: 61,320,195 (GRCm39) |
V560E |
probably damaging |
Het |
| Trdmt1 |
A |
G |
2: 13,526,918 (GRCm39) |
Y144H |
probably benign |
Het |
| Trim42 |
T |
C |
9: 97,245,100 (GRCm39) |
T567A |
probably benign |
Het |
| Tsbp1 |
A |
C |
17: 34,678,973 (GRCm39) |
R228S |
possibly damaging |
Het |
| Tuba4a |
T |
C |
1: 75,193,945 (GRCm39) |
D74G |
probably benign |
Het |
| Ube3c |
G |
A |
5: 29,842,769 (GRCm39) |
|
probably null |
Het |
| Vwa3a |
A |
G |
7: 120,375,311 (GRCm39) |
D375G |
probably benign |
Het |
| Zfp729b |
A |
G |
13: 67,741,218 (GRCm39) |
M349T |
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 |
|
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 |
|
|
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'- AACTTCCTGGAGGAGCACATC -3'
(R):5'- GCTACGGACATTTCATTCAGGAC -3'
Sequencing Primer
(F):5'- GCACATCTCCATCTTTAGAGATTTCG -3'
(R):5'- TTTCATTCAGGACAGAAGGCTCC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation