Incidental Mutation 'R4171:Pecr'
ID |
318120 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pecr
|
Ensembl Gene |
ENSMUSG00000026189 |
Gene Name |
peroxisomal trans-2-enoyl-CoA reductase |
Synonyms |
2400003B18Rik |
MMRRC Submission |
041011-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
R4171 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
72298326-72323473 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72315428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 107
(N107K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027381]
[ENSMUST00000097698]
[ENSMUST00000129458]
[ENSMUST00000134840]
|
AlphaFold |
Q99MZ7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027381
AA Change: N107K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027381 Gene: ENSMUSG00000026189 AA Change: N107K
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: N107K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095304 Gene: ENSMUSG00000026189 AA Change: N107K
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 |
0.9409 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
2310022A10Rik |
A |
G |
7: 27,265,109 (GRCm39) |
N87S |
probably benign |
Het |
Apmap |
A |
G |
2: 150,425,987 (GRCm39) |
V387A |
probably benign |
Het |
B130024G19Rik |
C |
T |
7: 70,038,454 (GRCm39) |
|
noncoding transcript |
Het |
Cd200r1 |
A |
G |
16: 44,613,127 (GRCm39) |
I244M |
probably damaging |
Het |
Clic6 |
T |
C |
16: 92,293,949 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
A |
G |
3: 114,001,863 (GRCm39) |
D429G |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,591,636 (GRCm39) |
Y458* |
probably null |
Het |
Elapor1 |
G |
T |
3: 108,368,259 (GRCm39) |
Q885K |
probably benign |
Het |
Fbxl13 |
A |
G |
5: 21,748,786 (GRCm39) |
Y378H |
probably benign |
Het |
Ifi203 |
A |
C |
1: 173,761,341 (GRCm39) |
|
probably benign |
Het |
Ifna6 |
T |
C |
4: 88,746,038 (GRCm39) |
V129A |
probably benign |
Het |
Igkv3-4 |
G |
A |
6: 70,649,324 (GRCm39) |
A108T |
probably damaging |
Het |
Itga1 |
G |
A |
13: 115,167,422 (GRCm39) |
Q165* |
probably null |
Het |
Kdm4c |
T |
A |
4: 74,199,135 (GRCm39) |
Y108N |
possibly damaging |
Het |
Lap3 |
T |
C |
5: 45,666,833 (GRCm39) |
S412P |
probably benign |
Het |
Lrfn5 |
G |
A |
12: 61,890,168 (GRCm39) |
V486I |
probably damaging |
Het |
Mep1b |
A |
T |
18: 21,228,163 (GRCm39) |
|
probably null |
Het |
Mettl6 |
T |
C |
14: 31,215,624 (GRCm39) |
N52S |
probably damaging |
Het |
Nup54 |
A |
G |
5: 92,565,343 (GRCm39) |
I458T |
possibly damaging |
Het |
Or1e16 |
A |
C |
11: 73,286,365 (GRCm39) |
L161R |
probably damaging |
Het |
Or6c204 |
G |
A |
10: 129,022,453 (GRCm39) |
A279V |
probably benign |
Het |
Pnpla6 |
A |
G |
8: 3,593,997 (GRCm39) |
Q1307R |
probably benign |
Het |
Poll |
T |
C |
19: 45,544,492 (GRCm39) |
K310E |
probably damaging |
Het |
Rab29 |
A |
G |
1: 131,795,475 (GRCm39) |
Q29R |
probably benign |
Het |
Reg2 |
G |
A |
6: 78,383,574 (GRCm39) |
G99D |
probably damaging |
Het |
Rftn2 |
G |
A |
1: 55,253,429 (GRCm39) |
S58L |
probably damaging |
Het |
Rps6kb1 |
T |
C |
11: 86,435,405 (GRCm39) |
E43G |
possibly damaging |
Het |
Sdk2 |
T |
C |
11: 113,757,815 (GRCm39) |
|
probably null |
Het |
Slc38a6 |
T |
A |
12: 73,397,326 (GRCm39) |
Y323N |
probably benign |
Het |
Sp100 |
T |
C |
1: 85,634,562 (GRCm39) |
S152P |
probably benign |
Het |
Tmc5 |
A |
G |
7: 118,248,810 (GRCm39) |
Y605C |
probably damaging |
Het |
Txndc17 |
T |
C |
11: 72,098,537 (GRCm39) |
Y30H |
probably damaging |
Het |
Vmn1r44 |
T |
A |
6: 89,870,996 (GRCm39) |
F247L |
probably damaging |
Het |
Zbtb39 |
C |
T |
10: 127,578,236 (GRCm39) |
T270I |
possibly damaging |
Het |
Zfp512b |
G |
A |
2: 181,232,391 (GRCm39) |
|
probably null |
Het |
Zwilch |
T |
A |
9: 64,065,997 (GRCm39) |
R255* |
probably null |
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 |
R3969: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 |
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 |
2015-06-10 |