Mutagenetix > Incidental Mutation

Incidental Mutation 'R2474:Enpep'

253259

Institutional Source

Beutler Lab

Gene Symbol

Enpep

Ensembl Gene

ENSMUSG00000028024

Gene Name

glutamyl aminopeptidase

Synonyms

Bp-1/6C3, 6030431M22Rik, Ly51, Ly-51, aminopeptidase-A, APA

MMRRC Submission

040405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2474 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129062824-129126369 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 129077807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 603 (S603R)

Ref Sequence

ENSEMBL: ENSMUSP00000029658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029658]

AlphaFold

P16406

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029658
AA Change: S603R

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: S603R

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
Pfam:Peptidase_M1	84	474	6e-147	PFAM
Pfam:ERAP1_C	607	925	1e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164443

Predicted Effect

unknown
Transcript: ENSMUST00000169240
AA Change: S179R

SMART Domains

Protein: ENSMUSP00000129759
Gene: ENSMUSG00000028024
AA Change: S179R

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M1	1	51	1.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170918

SMART Domains

Protein: ENSMUSP00000128872
Gene: ENSMUSG00000028024

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M1	12	402	9.6e-148	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198498

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (32/32)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and morphologically unaffected with normal B and T cell development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,248,361 (GRCm39)	T678A	probably benign	Het
Asb7	A	T	7: 66,328,901 (GRCm39)	N46K	probably damaging	Het
Atxn7l2	A	C	3: 108,111,293 (GRCm39)	S414R	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Cxcl13	C	T	5: 96,107,816 (GRCm39)	Q91*	probably null	Het
Dchs1	T	C	7: 105,404,281 (GRCm39)	N2754D	probably benign	Het
Dchs1	A	T	7: 105,422,045 (GRCm39)	V125E	probably damaging	Het
Greb1	T	C	12: 16,764,954 (GRCm39)	N393S	possibly damaging	Het
Hfm1	A	T	5: 107,020,282 (GRCm39)	V1048D	possibly damaging	Het
Ilvbl	T	C	10: 78,412,558 (GRCm39)	V93A	probably damaging	Het
Itpkb	A	G	1: 180,161,716 (GRCm39)	D614G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lgi3	G	A	14: 70,770,689 (GRCm39)		probably null	Het
Mpeg1	G	A	19: 12,439,613 (GRCm39)	C357Y	probably damaging	Het
Nedd1	A	G	10: 92,555,465 (GRCm39)	F7L	probably damaging	Het
Or8g26	A	G	9: 39,095,846 (GRCm39)	D121G	probably damaging	Het
Or8k35	C	A	2: 86,424,957 (GRCm39)	V72F	probably benign	Het
Parp8	A	T	13: 117,029,577 (GRCm39)	C510S	possibly damaging	Het
Phb1	T	C	11: 95,562,248 (GRCm39)	F42L	possibly damaging	Het
Pik3r1	A	T	13: 101,839,284 (GRCm39)	Y189*	probably null	Het
Rps5	T	A	7: 12,660,488 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Senp3	T	A	11: 69,564,923 (GRCm39)	N516Y	probably damaging	Het
Tfap2b	A	T	1: 19,284,599 (GRCm39)	H169L	possibly damaging	Het
Tmem260	A	G	14: 48,733,781 (GRCm39)	D226G	probably null	Het
Ttc6	G	T	12: 57,622,713 (GRCm39)	R37S	probably benign	Het
Vmn2r84	A	T	10: 130,222,392 (GRCm39)	D609E	possibly damaging	Het
Vmn2r99	A	T	17: 19,598,891 (GRCm39)	M192L	probably benign	Het
Zfp746	T	C	6: 48,041,703 (GRCm39)	D341G	probably damaging	Het
Zfp941	A	T	7: 140,391,384 (GRCm39)	H658Q	probably damaging	Het
Zw10	T	A	9: 48,978,105 (GRCm39)	I351N	probably damaging	Het

Other mutations in Enpep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Enpep	APN	3	129,125,731 (GRCm39)	missense	possibly damaging	0.69
IGL01895:Enpep	APN	3	129,063,983 (GRCm39)	missense	possibly damaging	0.89
IGL02193:Enpep	APN	3	129,075,336 (GRCm39)	missense	possibly damaging	0.46
IGL02215:Enpep	APN	3	129,063,926 (GRCm39)	splice site	probably benign
IGL02511:Enpep	APN	3	129,115,059 (GRCm39)	missense	probably damaging	1.00
IGL02579:Enpep	APN	3	129,077,739 (GRCm39)	missense	probably benign	0.07
IGL02634:Enpep	APN	3	129,103,506 (GRCm39)	missense	probably damaging	1.00
IGL03034:Enpep	APN	3	129,092,599 (GRCm39)	missense	probably damaging	0.99
IGL03214:Enpep	APN	3	129,086,896 (GRCm39)	missense	probably benign
IGL03401:Enpep	APN	3	129,106,269 (GRCm39)	missense	probably benign	0.01
P0041:Enpep	UTSW	3	129,125,847 (GRCm39)	missense	possibly damaging	0.80
R0371:Enpep	UTSW	3	129,077,516 (GRCm39)	critical splice donor site	probably null
R0479:Enpep	UTSW	3	129,106,323 (GRCm39)	missense	possibly damaging	0.65
R1036:Enpep	UTSW	3	129,077,758 (GRCm39)	missense	probably damaging	0.99
R1466:Enpep	UTSW	3	129,113,097 (GRCm39)	missense	probably damaging	1.00
R1466:Enpep	UTSW	3	129,113,097 (GRCm39)	missense	probably damaging	1.00
R1584:Enpep	UTSW	3	129,113,097 (GRCm39)	missense	probably damaging	1.00
R2060:Enpep	UTSW	3	129,074,172 (GRCm39)	missense	probably benign	0.14
R2101:Enpep	UTSW	3	129,092,587 (GRCm39)	missense	probably benign	0.00
R2153:Enpep	UTSW	3	129,074,231 (GRCm39)	missense	probably damaging	0.99
R3618:Enpep	UTSW	3	129,077,807 (GRCm39)	missense	possibly damaging	0.77
R3619:Enpep	UTSW	3	129,077,807 (GRCm39)	missense	possibly damaging	0.77
R4275:Enpep	UTSW	3	129,125,927 (GRCm39)	missense	probably benign	0.02
R4291:Enpep	UTSW	3	129,063,966 (GRCm39)	nonsense	probably null
R4438:Enpep	UTSW	3	129,077,740 (GRCm39)	missense	possibly damaging	0.94
R4570:Enpep	UTSW	3	129,075,197 (GRCm39)	missense	possibly damaging	0.67
R4678:Enpep	UTSW	3	129,097,362 (GRCm39)	critical splice donor site	probably null
R4679:Enpep	UTSW	3	129,097,362 (GRCm39)	critical splice donor site	probably null
R4748:Enpep	UTSW	3	129,125,812 (GRCm39)	missense	probably damaging	1.00
R4878:Enpep	UTSW	3	129,070,420 (GRCm39)	missense	probably benign	0.17
R4954:Enpep	UTSW	3	129,077,829 (GRCm39)	missense	probably damaging	0.98
R5074:Enpep	UTSW	3	129,097,404 (GRCm39)	missense	probably damaging	1.00
R5261:Enpep	UTSW	3	129,099,075 (GRCm39)	missense	probably damaging	1.00
R5328:Enpep	UTSW	3	129,074,159 (GRCm39)	missense	probably benign	0.30
R5661:Enpep	UTSW	3	129,070,406 (GRCm39)	missense	probably damaging	0.98
R5687:Enpep	UTSW	3	129,092,743 (GRCm39)	splice site	probably null
R5695:Enpep	UTSW	3	129,102,748 (GRCm39)	missense	probably damaging	1.00
R5697:Enpep	UTSW	3	129,102,772 (GRCm39)	missense	probably benign
R5889:Enpep	UTSW	3	129,106,227 (GRCm39)	missense	probably damaging	1.00
R5940:Enpep	UTSW	3	129,106,227 (GRCm39)	missense	probably damaging	1.00
R5968:Enpep	UTSW	3	129,074,587 (GRCm39)	missense	probably benign
R5976:Enpep	UTSW	3	129,092,773 (GRCm39)	missense	probably damaging	0.97
R6151:Enpep	UTSW	3	129,126,067 (GRCm39)	missense	possibly damaging	0.82
R6367:Enpep	UTSW	3	129,125,730 (GRCm39)	missense	possibly damaging	0.94
R6468:Enpep	UTSW	3	129,125,509 (GRCm39)	critical splice donor site	probably null
R6484:Enpep	UTSW	3	129,115,130 (GRCm39)	missense	probably damaging	0.96
R6938:Enpep	UTSW	3	129,092,599 (GRCm39)	missense	probably damaging	0.99
R6989:Enpep	UTSW	3	129,074,599 (GRCm39)	missense	probably damaging	1.00
R7073:Enpep	UTSW	3	129,106,319 (GRCm39)	nonsense	probably null
R7258:Enpep	UTSW	3	129,125,724 (GRCm39)	missense	probably benign	0.01
R7452:Enpep	UTSW	3	129,065,052 (GRCm39)	missense	possibly damaging	0.81
R7576:Enpep	UTSW	3	129,077,740 (GRCm39)	missense	probably benign	0.03
R7684:Enpep	UTSW	3	129,115,094 (GRCm39)	missense	probably damaging	1.00
R7697:Enpep	UTSW	3	129,102,750 (GRCm39)	missense	probably damaging	1.00
R8050:Enpep	UTSW	3	129,099,165 (GRCm39)	missense	probably damaging	1.00
R8080:Enpep	UTSW	3	129,092,783 (GRCm39)	missense	probably damaging	1.00
R8318:Enpep	UTSW	3	129,063,986 (GRCm39)	missense	probably damaging	1.00
R8423:Enpep	UTSW	3	129,102,774 (GRCm39)	missense	probably damaging	1.00
R8474:Enpep	UTSW	3	129,113,076 (GRCm39)	missense	probably damaging	1.00
R8532:Enpep	UTSW	3	129,070,302 (GRCm39)	nonsense	probably null
R8826:Enpep	UTSW	3	129,065,067 (GRCm39)	missense	probably damaging	0.97
R8884:Enpep	UTSW	3	129,115,052 (GRCm39)	missense	possibly damaging	0.88
R8936:Enpep	UTSW	3	129,125,884 (GRCm39)	missense	possibly damaging	0.63
R8937:Enpep	UTSW	3	129,115,007 (GRCm39)	critical splice donor site	probably null
R8959:Enpep	UTSW	3	129,113,090 (GRCm39)	missense	probably damaging	1.00
R9348:Enpep	UTSW	3	129,102,772 (GRCm39)	missense	probably benign	0.03
R9375:Enpep	UTSW	3	129,125,529 (GRCm39)	missense	probably benign	0.00
Z1177:Enpep	UTSW	3	129,070,329 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAACAGGGACGCCATGATTC -3'
(R):5'- GCTTAGAGGCTCTGGGTCTAAATC -3'

Sequencing Primer
(F):5'- GGGACGCCATGATTCTCAAAGC -3'
(R):5'- GAGGCTCTGGGTCTAAATCAAACTTG -3'

Posted On

2014-12-04