Incidental Mutation 'R3775:Pecr'
| ID |
473731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pecr
|
| Ensembl Gene |
ENSMUSG00000026189 |
| Gene Name |
peroxisomal trans-2-enoyl-CoA reductase |
| Synonyms |
2400003B18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R3775 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
72298326-72323473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72298530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 297
(F297L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027381]
[ENSMUST00000129458]
[ENSMUST00000134840]
|
| AlphaFold |
Q99MZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027381
AA Change: F297L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000027381
Gene: ENSMUSG00000026189
AA Change: F297L
| 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 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: ENSMUST00000179876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181973
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,986,387 (GRCm39) |
E2557G |
possibly damaging |
Het |
| Arid1a |
A |
G |
4: 133,414,075 (GRCm39) |
S1248P |
unknown |
Het |
| C2cd3 |
T |
C |
7: 100,081,205 (GRCm39) |
L1327S |
probably damaging |
Het |
| Ccnh |
T |
C |
13: 85,354,243 (GRCm39) |
|
probably benign |
Het |
| Dcdc5 |
C |
A |
2: 106,202,738 (GRCm39) |
|
noncoding transcript |
Het |
| Eprs1 |
T |
C |
1: 185,105,205 (GRCm39) |
F160S |
probably damaging |
Het |
| F9 |
A |
G |
X: 59,064,345 (GRCm39) |
I190V |
probably benign |
Het |
| Fam185a |
C |
A |
5: 21,660,804 (GRCm39) |
A273D |
probably damaging |
Het |
| Fhod1 |
G |
A |
8: 106,058,270 (GRCm39) |
|
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,720,029 (GRCm39) |
D534G |
probably damaging |
Het |
| Ints6l |
T |
C |
X: 55,526,731 (GRCm39) |
L220S |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,182,357 (GRCm39) |
T250A |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,193 (GRCm39) |
S134* |
probably null |
Het |
| Msh6 |
G |
T |
17: 88,293,609 (GRCm39) |
R788L |
probably damaging |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,126 (GRCm39) |
|
probably benign |
Het |
| Npy1r |
T |
C |
8: 67,157,502 (GRCm39) |
F271L |
possibly damaging |
Het |
| Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
| Or13p3 |
C |
T |
4: 118,567,351 (GRCm39) |
T249I |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,121 (GRCm39) |
I47F |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,828,167 (GRCm39) |
E205G |
possibly damaging |
Het |
| Pdgfc |
A |
G |
3: 81,048,858 (GRCm39) |
T89A |
probably damaging |
Het |
| Pgr15l |
G |
T |
X: 96,120,747 (GRCm39) |
R181M |
probably damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,011,325 (GRCm39) |
R230H |
probably damaging |
Het |
| Ppm1d |
T |
C |
11: 85,227,993 (GRCm39) |
I303T |
probably damaging |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,341,011 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
T |
A |
6: 6,109,288 (GRCm39) |
Q358L |
probably damaging |
Het |
| Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,769,880 (GRCm39) |
F186L |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,692,549 (GRCm39) |
D219G |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Vmn2r29 |
C |
G |
7: 7,243,011 (GRCm39) |
D500H |
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 |
|
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 |
|
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 |
|
| Posted On |
2017-04-14 |
Incidental Mutation