Incidental Mutation 'R6314:Pcare'
| ID |
509966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcare
|
| Ensembl Gene |
ENSMUSG00000044375 |
| Gene Name |
photoreceptor cilium actin regulator |
| Synonyms |
BC027072 |
| MMRRC Submission |
044471-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6314 (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 G
at 72059452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 75
(Q75P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057405]
|
| AlphaFold |
Q6PAC4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057405
AA Change: Q75P
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: Q75P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Retinal
|
1 |
1255 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.0936 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
A |
C |
5: 146,441,702 (GRCm39) |
E283A |
possibly damaging |
Het |
| Aadacl2 |
A |
T |
3: 59,924,824 (GRCm39) |
R130S |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,177,365 (GRCm39) |
C581* |
probably null |
Het |
| Adss2 |
T |
A |
1: 177,595,334 (GRCm39) |
Y402F |
probably damaging |
Het |
| Agfg1 |
A |
T |
1: 82,836,155 (GRCm39) |
Q13H |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Armc8 |
A |
G |
9: 99,417,937 (GRCm39) |
S74P |
probably benign |
Het |
| Atn1 |
A |
T |
6: 124,724,013 (GRCm39) |
|
probably benign |
Het |
| Ddx5 |
T |
C |
11: 106,679,347 (GRCm39) |
|
probably benign |
Het |
| Depdc1a |
T |
A |
3: 159,204,051 (GRCm39) |
H33Q |
probably damaging |
Het |
| Dnmt3l |
A |
T |
10: 77,895,521 (GRCm39) |
Y58F |
probably benign |
Het |
| Efemp1 |
C |
T |
11: 28,864,603 (GRCm39) |
T219I |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,729,366 (GRCm39) |
N436D |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 34,007,208 (GRCm39) |
V261A |
probably damaging |
Het |
| Erap1 |
A |
T |
13: 74,822,894 (GRCm39) |
K802N |
probably damaging |
Het |
| Fads2b |
T |
C |
2: 85,332,520 (GRCm39) |
N168S |
probably benign |
Het |
| Fcrl6 |
T |
A |
1: 172,426,186 (GRCm39) |
|
probably null |
Het |
| Fv1 |
A |
T |
4: 147,954,156 (GRCm39) |
|
probably null |
Het |
| Gdpd4 |
T |
A |
7: 97,623,160 (GRCm39) |
M257K |
probably damaging |
Het |
| Gorab |
T |
C |
1: 163,224,658 (GRCm39) |
S48G |
probably damaging |
Het |
| Gxylt2 |
A |
T |
6: 100,775,164 (GRCm39) |
H361L |
probably damaging |
Het |
| Hk1 |
A |
G |
10: 62,128,223 (GRCm39) |
Y300H |
possibly damaging |
Het |
| Hk3 |
T |
C |
13: 55,161,393 (GRCm39) |
R156G |
probably benign |
Het |
| Hook3 |
T |
A |
8: 26,578,136 (GRCm39) |
M118L |
probably benign |
Het |
| Lmnb2 |
G |
A |
10: 80,745,804 (GRCm39) |
R92C |
probably damaging |
Het |
| Lsr |
A |
G |
7: 30,658,024 (GRCm39) |
L380P |
probably damaging |
Het |
| Mettl16 |
A |
T |
11: 74,686,832 (GRCm39) |
R204* |
probably null |
Het |
| Or5h18 |
A |
T |
16: 58,847,820 (GRCm39) |
I150K |
probably benign |
Het |
| Or7a37 |
A |
G |
10: 78,806,179 (GRCm39) |
H232R |
probably benign |
Het |
| Or7e173 |
C |
A |
9: 19,938,958 (GRCm39) |
S92I |
probably damaging |
Het |
| Orc3 |
C |
A |
4: 34,579,797 (GRCm39) |
G494C |
possibly damaging |
Het |
| Pip5k1a |
G |
T |
3: 94,975,432 (GRCm39) |
T346K |
probably damaging |
Het |
| Pitx1 |
A |
T |
13: 55,974,166 (GRCm39) |
S222T |
possibly damaging |
Het |
| Pm20d1 |
T |
C |
1: 131,743,754 (GRCm39) |
V473A |
possibly damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,571,572 (GRCm39) |
L168F |
probably benign |
Het |
| Pramel13 |
T |
C |
4: 144,121,157 (GRCm39) |
D289G |
probably damaging |
Het |
| Reln |
C |
A |
5: 22,357,482 (GRCm39) |
E195* |
probably null |
Het |
| S100a7l2 |
A |
T |
3: 90,995,683 (GRCm39) |
V73E |
possibly damaging |
Het |
| Sec24b |
A |
T |
3: 129,800,894 (GRCm39) |
|
probably null |
Het |
| Selenbp1 |
A |
G |
3: 94,844,576 (GRCm39) |
N78D |
probably damaging |
Het |
| Serpina1d |
T |
A |
12: 103,730,959 (GRCm39) |
T340S |
probably benign |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Snap29 |
T |
C |
16: 17,237,183 (GRCm39) |
M98T |
probably benign |
Het |
| Son |
G |
T |
16: 91,457,298 (GRCm39) |
|
probably benign |
Het |
| Spef1l |
A |
C |
7: 139,556,402 (GRCm39) |
L195R |
possibly damaging |
Het |
| Tgfbi |
A |
T |
13: 56,773,976 (GRCm39) |
T252S |
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,554,996 (GRCm39) |
N296S |
possibly damaging |
Het |
| Tmem225 |
C |
G |
9: 40,062,016 (GRCm39) |
T210S |
probably benign |
Het |
| Tmem245 |
A |
T |
4: 56,888,592 (GRCm39) |
V778D |
possibly damaging |
Het |
| Tor4a |
T |
C |
2: 25,084,794 (GRCm39) |
R370G |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,698,625 (GRCm39) |
H442R |
probably benign |
Het |
| Vmn1r20 |
A |
T |
6: 57,409,042 (GRCm39) |
M123L |
probably benign |
Het |
| Zfp622 |
T |
C |
15: 25,987,067 (GRCm39) |
V273A |
probably benign |
Het |
| Zhx1 |
C |
T |
15: 57,917,398 (GRCm39) |
V283I |
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 |
|
R6043:Pcare
|
UTSW |
17 |
72,057,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGCACACTGACTCTCTGTTC -3'
(R):5'- TCATCGTCAACAGCGTTGCG -3'
Sequencing Primer
(F):5'- GACTCTCTGTTCCCCTTGGAGG -3'
(R):5'- CGTTGCGAAGAGTGGCATTCAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation