Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03124:Pecr'

410100

Institutional Source

Australian Phenomics Network (link to record)

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) question?

Stock #

IGL03124

Quality Score

Status

Chromosome

Chromosomal Location

72298326-72323473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 72316499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 69 (S69A)

Ref Sequence

ENSEMBL: ENSMUSP00000120890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027381] [ENSMUST00000097698] [ENSMUST00000129458] [ENSMUST00000134840]

AlphaFold

Q99MZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000027381
AA Change: S69A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000027381
Gene: ENSMUSG00000026189
AA Change: S69A

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: ENSMUST00000097698
AA Change: S69A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000095304
Gene: ENSMUSG00000026189
AA Change: S69A

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
AA Change: S69A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120890
Gene: ENSMUSG00000026189
AA Change: S69A

Domain	Start	End	E-Value	Type
Pfam:adh_short	19	89	1.7e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180722

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	C	A	8: 122,268,449 (GRCm39)		probably benign	Het
4931414P19Rik	A	G	14: 54,832,596 (GRCm39)	V193A	probably benign	Het
Acap3	T	C	4: 155,989,490 (GRCm39)	S645P	probably benign	Het
Alms1	A	G	6: 85,655,401 (GRCm39)	I3316V	probably benign	Het
Apc	T	G	18: 34,433,038 (GRCm39)	H424Q	probably damaging	Het
Camsap2	A	T	1: 136,202,537 (GRCm39)		probably null	Het
Car13	C	T	3: 14,722,000 (GRCm39)	P182L	possibly damaging	Het
Ccdc87	T	G	19: 4,891,082 (GRCm39)	S525A	probably damaging	Het
Ces1f	T	C	8: 94,002,012 (GRCm39)	N39D	probably benign	Het
Cyp2j13	C	A	4: 95,950,159 (GRCm39)	A281S	possibly damaging	Het
Cyp4f15	G	A	17: 32,904,786 (GRCm39)		probably null	Het
Fat4	C	A	3: 39,035,701 (GRCm39)	R3118S	possibly damaging	Het
Glg1	C	T	8: 111,926,803 (GRCm39)	V171M	probably damaging	Het
Hivep1	G	T	13: 42,312,380 (GRCm39)	G1540V	possibly damaging	Het
Ighm	T	C	12: 113,385,258 (GRCm39)	D234G	unknown	Het
Igsf10	T	C	3: 59,227,086 (GRCm39)	T2196A	probably benign	Het
Kctd19	T	A	8: 106,113,702 (GRCm39)	Q657L	possibly damaging	Het
Klhl40	T	A	9: 121,609,751 (GRCm39)	I512N	probably damaging	Het
Lima1	A	T	15: 99,694,615 (GRCm39)		probably benign	Het
Map2k4	A	C	11: 65,581,617 (GRCm39)	I365S	probably damaging	Het
Mast4	T	A	13: 102,874,753 (GRCm39)	K1346N	probably damaging	Het
Met	T	A	6: 17,492,077 (GRCm39)	F280I	probably benign	Het
Ncapg	A	G	5: 45,828,551 (GRCm39)	T101A	probably benign	Het
Nup214	T	C	2: 31,886,452 (GRCm39)	F605L	probably benign	Het
Odr4	A	G	1: 150,262,176 (GRCm39)	V88A	probably benign	Het
Or51k1	G	T	7: 103,661,001 (GRCm39)	Q303K	probably benign	Het
Or5ae2	T	A	7: 84,505,931 (GRCm39)	M118K	probably damaging	Het
Or7e177	T	A	9: 20,212,459 (GRCm39)	M322K	probably benign	Het
Pck2	C	T	14: 55,782,790 (GRCm39)	T373I	probably damaging	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Pgap6	G	A	17: 26,335,808 (GRCm39)	R65Q	probably damaging	Het
Pitpnb	A	G	5: 111,478,696 (GRCm39)	E6G	possibly damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Plbd2	A	T	5: 120,631,142 (GRCm39)	F212I	possibly damaging	Het
Rfk	T	A	19: 17,375,959 (GRCm39)	H84Q	possibly damaging	Het
Scp2	T	A	4: 107,921,103 (GRCm39)	I36F	probably damaging	Het
Slc9a4	A	G	1: 40,619,895 (GRCm39)	T74A	probably damaging	Het
Spmip6	T	C	4: 41,507,287 (GRCm39)	N170D	possibly damaging	Het
St6galnac1	G	A	11: 116,666,125 (GRCm39)	A35V	probably benign	Het
Tasor2	A	T	13: 3,624,704 (GRCm39)	Y1749N	probably benign	Het
Trav17	T	C	14: 54,044,106 (GRCm39)	V4A	probably benign	Het
Vmn1r57	A	T	7: 5,224,021 (GRCm39)	H182L	possibly damaging	Het
Vwa8	A	T	14: 79,296,255 (GRCm39)		probably benign	Het
Zgpat	A	G	2: 181,007,973 (GRCm39)	Y170C	probably benign	Het

Other mutations in Pecr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2016-08-02