Incidental Mutation 'R3969:Pecr'
| ID |
310863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pecr
|
| Ensembl Gene |
ENSMUSG00000026189 |
| Gene Name |
peroxisomal trans-2-enoyl-CoA reductase |
| Synonyms |
2400003B18Rik |
| MMRRC Submission |
040937-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R3969 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
72298326-72323473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72315468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 94
(T94I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027381]
[ENSMUST00000097698]
[ENSMUST00000129458]
[ENSMUST00000134840]
|
| AlphaFold |
Q99MZ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027381
AA Change: T94I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027381
Gene: ENSMUSG00000026189
AA Change: T94I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
19 |
216 |
5e-47 |
PFAM |
|
Pfam:KR
|
20 |
148 |
2.3e-10 |
PFAM |
|
Pfam:adh_short_C2
|
25 |
266 |
4.1e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097698
AA Change: T94I
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095304
Gene: ENSMUSG00000026189
AA Change: T94I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
19 |
190 |
5.8e-26 |
PFAM |
|
Pfam:KR
|
20 |
148 |
9.3e-12 |
PFAM |
|
Pfam:adh_short_C2
|
25 |
242 |
8.7e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129458
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134840
|
| SMART Domains |
Protein: ENSMUSP00000120890
Gene: ENSMUSG00000026189
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
19 |
89 |
1.7e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180722
|
| Meta Mutation Damage Score |
0.1655 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
A |
G |
10: 20,835,846 (GRCm39) |
K60E |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
| Camk2d |
G |
T |
3: 126,590,608 (GRCm39) |
C273F |
possibly damaging |
Het |
| Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
| Chia1 |
T |
G |
3: 106,028,951 (GRCm39) |
|
probably null |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,822,811 (GRCm39) |
I175T |
possibly damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,269,531 (GRCm39) |
M1K |
probably null |
Het |
| Flna |
A |
T |
X: 73,279,273 (GRCm39) |
V1253E |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,269,766 (GRCm39) |
S396R |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,798,172 (GRCm39) |
C774S |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,300,133 (GRCm39) |
Y194C |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,369,739 (GRCm39) |
Q481L |
probably damaging |
Het |
| Irf5 |
A |
T |
6: 29,536,781 (GRCm39) |
Q497H |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Lins1 |
C |
T |
7: 66,357,946 (GRCm39) |
T27I |
probably benign |
Het |
| Ncstn |
A |
C |
1: 171,897,576 (GRCm39) |
V439G |
probably damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
T |
13: 49,813,492 (GRCm39) |
K162* |
probably null |
Het |
| Or7g21 |
A |
G |
9: 19,032,956 (GRCm39) |
E232G |
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Pole3 |
G |
T |
4: 62,443,198 (GRCm39) |
N12K |
possibly damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,990,263 (GRCm39) |
S71G |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,088,738 (GRCm39) |
V496A |
probably benign |
Het |
| Slc26a1 |
A |
G |
5: 108,821,818 (GRCm39) |
S24P |
probably benign |
Het |
| Tspoap1 |
A |
T |
11: 87,653,272 (GRCm39) |
N113Y |
probably damaging |
Het |
| Usp17lc |
A |
T |
7: 103,067,626 (GRCm39) |
H307L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,652,801 (GRCm39) |
W498R |
probably damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,478,647 (GRCm39) |
Q33H |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 48,309,358 (GRCm39) |
D808G |
unknown |
Het |
| Ybx2 |
G |
A |
11: 69,831,242 (GRCm39) |
R84Q |
probably damaging |
Het |
| Zfp462 |
C |
T |
4: 55,012,402 (GRCm39) |
S308F |
probably damaging |
Het |
|
| Other mutations in Pecr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03124:Pecr
|
APN |
1 |
72,316,499 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1556:Pecr
|
UTSW |
1 |
72,298,542 (GRCm39) |
missense |
probably benign |
|
|
R1711:Pecr
|
UTSW |
1 |
72,316,568 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1882:Pecr
|
UTSW |
1 |
72,314,136 (GRCm39) |
splice site |
probably null |
|
|
R2150:Pecr
|
UTSW |
1 |
72,316,517 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2507:Pecr
|
UTSW |
1 |
72,301,135 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2516:Pecr
|
UTSW |
1 |
72,316,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3774:Pecr
|
UTSW |
1 |
72,298,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3775:Pecr
|
UTSW |
1 |
72,298,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3968:Pecr
|
UTSW |
1 |
72,315,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3970:Pecr
|
UTSW |
1 |
72,315,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4171:Pecr
|
UTSW |
1 |
72,315,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Pecr
|
UTSW |
1 |
72,306,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4864:Pecr
|
UTSW |
1 |
72,316,490 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5191:Pecr
|
UTSW |
1 |
72,314,136 (GRCm39) |
splice site |
probably null |
|
|
R5259:Pecr
|
UTSW |
1 |
72,316,444 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5331:Pecr
|
UTSW |
1 |
72,314,005 (GRCm39) |
intron |
probably benign |
|
|
R6828:Pecr
|
UTSW |
1 |
72,306,616 (GRCm39) |
nonsense |
probably null |
|
|
R7238:Pecr
|
UTSW |
1 |
72,298,592 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7358:Pecr
|
UTSW |
1 |
72,306,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7745:Pecr
|
UTSW |
1 |
72,306,157 (GRCm39) |
splice site |
probably null |
|
|
R7997:Pecr
|
UTSW |
1 |
72,315,475 (GRCm39) |
nonsense |
probably null |
|
|
R8123:Pecr
|
UTSW |
1 |
72,314,094 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8155:Pecr
|
UTSW |
1 |
72,309,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8399:Pecr
|
UTSW |
1 |
72,306,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8702:Pecr
|
UTSW |
1 |
72,306,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTTACTGAAGCCATGCTG -3'
(R):5'- TTCACACTGTGGGATCTGGG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- ACTGTGGGATCTGGGGGTTTATTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation