Incidental Mutation 'R9390:Pcare'
| ID |
710569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcare
|
| Ensembl Gene |
ENSMUSG00000044375 |
| Gene Name |
photoreceptor cilium actin regulator |
| Synonyms |
BC027072 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R9390 (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 72057983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 565
(T565A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057405]
|
| AlphaFold |
Q6PAC4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057405
AA Change: T565A
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: T565A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Retinal
|
1 |
1255 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
T |
16: 90,853,096 (GRCm39) |
S13R |
probably benign |
Het |
| Amn1 |
A |
T |
6: 149,084,983 (GRCm39) |
D32E |
probably damaging |
Het |
| Asph |
T |
C |
4: 9,635,927 (GRCm39) |
D108G |
probably damaging |
Het |
| C1rb |
T |
C |
6: 124,557,336 (GRCm39) |
L491P |
probably damaging |
Het |
| Cep120 |
G |
A |
18: 53,839,984 (GRCm39) |
R759* |
probably null |
Het |
| Chmp6 |
C |
T |
11: 119,806,288 (GRCm39) |
T38M |
possibly damaging |
Het |
| Comtd1 |
A |
G |
14: 21,898,867 (GRCm39) |
F25S |
possibly damaging |
Het |
| Dthd1 |
G |
A |
5: 62,975,904 (GRCm39) |
G193R |
possibly damaging |
Het |
| Dyrk1a |
T |
A |
16: 94,474,330 (GRCm39) |
S362R |
probably damaging |
Het |
| Ecm2 |
A |
G |
13: 49,683,792 (GRCm39) |
D590G |
probably benign |
Het |
| Exd1 |
A |
T |
2: 119,354,180 (GRCm39) |
W293R |
probably damaging |
Het |
| Fam110a |
C |
T |
2: 151,812,116 (GRCm39) |
R218Q |
probably benign |
Het |
| Fga |
A |
T |
3: 82,940,610 (GRCm39) |
N755Y |
probably damaging |
Het |
| Fstl4 |
C |
A |
11: 52,891,102 (GRCm39) |
T80K |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,208,783 (GRCm39) |
K109E |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,190,607 (GRCm39) |
V1009A |
probably null |
Het |
| Herc6 |
C |
T |
6: 57,602,955 (GRCm39) |
Q545* |
probably null |
Het |
| Hpd |
T |
A |
5: 123,318,794 (GRCm39) |
|
probably null |
Het |
| Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,497,522 (GRCm39) |
V114A |
probably damaging |
Het |
| Ints14 |
A |
G |
9: 64,891,314 (GRCm39) |
T432A |
probably benign |
Het |
| Isoc1 |
G |
A |
18: 58,804,350 (GRCm39) |
R126H |
probably damaging |
Het |
| Klb |
G |
T |
5: 65,533,044 (GRCm39) |
R451L |
possibly damaging |
Het |
| Lrtm2 |
C |
T |
6: 119,297,948 (GRCm39) |
C31Y |
probably benign |
Het |
| Mga |
C |
T |
2: 119,794,332 (GRCm39) |
S2672F |
probably damaging |
Het |
| Mkrn3 |
T |
C |
7: 62,069,288 (GRCm39) |
I168V |
probably benign |
Het |
| Mlph |
C |
T |
1: 90,867,088 (GRCm39) |
T370I |
probably benign |
Het |
| Naaladl1 |
A |
T |
19: 6,162,725 (GRCm39) |
I478F |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,065,157 (GRCm39) |
H6251Q |
probably benign |
Het |
| Nom1 |
C |
T |
5: 29,639,766 (GRCm39) |
R31C |
probably benign |
Het |
| Nup153 |
A |
C |
13: 46,840,642 (GRCm39) |
F989V |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,220,777 (GRCm39) |
|
probably null |
Het |
| Or4c12 |
T |
C |
2: 89,773,569 (GRCm39) |
K297E |
probably benign |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Or6c210 |
A |
G |
10: 129,495,938 (GRCm39) |
T88A |
probably benign |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,781 (GRCm39) |
V697A |
possibly damaging |
Het |
| Pds5a |
G |
T |
5: 65,823,600 (GRCm39) |
Q64K |
probably benign |
Het |
| Pmpcb |
T |
C |
5: 21,953,810 (GRCm39) |
F353L |
probably damaging |
Het |
| Pus10 |
G |
A |
11: 23,656,937 (GRCm39) |
C221Y |
probably damaging |
Het |
| Qrfp |
A |
G |
2: 31,698,749 (GRCm39) |
V61A |
possibly damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,865,932 (GRCm39) |
I393M |
probably benign |
Het |
| Sh2d5 |
T |
G |
4: 137,985,481 (GRCm39) |
S310A |
probably benign |
Het |
| Shisa9 |
A |
G |
16: 12,085,408 (GRCm39) |
E339G |
possibly damaging |
Het |
| Slc26a10 |
C |
T |
10: 127,009,239 (GRCm39) |
E641K |
probably benign |
Het |
| Slc5a6 |
A |
G |
5: 31,197,803 (GRCm39) |
V302A |
possibly damaging |
Het |
| Tdrd7 |
T |
A |
4: 46,005,416 (GRCm39) |
D407E |
probably damaging |
Het |
| Trp53 |
A |
T |
11: 69,478,394 (GRCm39) |
Q101L |
probably benign |
Het |
| Tsc2 |
T |
A |
17: 24,823,824 (GRCm39) |
N994Y |
probably damaging |
Het |
| Ttc16 |
T |
G |
2: 32,657,195 (GRCm39) |
K577Q |
possibly damaging |
Het |
| Vmn1r195 |
A |
G |
13: 22,462,535 (GRCm39) |
I2V |
probably benign |
Het |
| Vmn2r83 |
G |
T |
10: 79,317,322 (GRCm39) |
E522* |
probably null |
Het |
| Wdr48 |
T |
A |
9: 119,746,245 (GRCm39) |
F450L |
probably benign |
Het |
| Wnt9a |
G |
A |
11: 59,218,592 (GRCm39) |
E100K |
possibly damaging |
Het |
| Zfp729b |
A |
T |
13: 67,739,182 (GRCm39) |
S1028T |
probably benign |
Het |
| Zfp729b |
C |
T |
13: 67,742,014 (GRCm39) |
V84I |
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 |
|
|
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 |
|
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'- TGGCACCCAGGGCATAAAATAC -3'
(R):5'- AACTTAGCAGCACCGACCTG -3'
Sequencing Primer
(F):5'- ATACCTCCAGCCTCCTACTGAG -3'
(R):5'- CTTCAAGACCACGGTCCTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation