Mutagenetix > Incidental Mutation

Incidental Mutation 'R4275:Enpep'

324746

Institutional Source

Beutler Lab

Gene Symbol

Enpep

Ensembl Gene

ENSMUSG00000028024

Gene Name

glutamyl aminopeptidase

Synonyms

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

MMRRC Submission

041646-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4275 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129269175-129332720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129332278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 68 (N68K)

Ref Sequence

ENSEMBL: ENSMUSP00000029658 (fasta)

Gene Model

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

AlphaFold

P16406

Predicted Effect

probably benign
Transcript: ENSMUST00000029658
AA Change: N68K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: N68K

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: ENSMUST00000165217

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (43/44)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1e	T	C	1: 154,493,325	Y322C	probably damaging	Het
Camsap2	A	G	1: 136,270,876	V1462A	probably benign	Het
D3Ertd751e	C	A	3: 41,756,154		probably benign	Het
Dhcr7	C	T	7: 143,843,227	A152V	probably damaging	Het
Fam126b	T	C	1: 58,529,933	T440A	probably benign	Het
Fam131b	G	A	6: 42,321,307	L43F	probably damaging	Het
Fbxl5	T	A	5: 43,762,772		probably benign	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Igf2	T	C	7: 142,655,786	M46V	probably benign	Het
Kntc1	T	A	5: 123,767,779	Y367N	probably damaging	Het
Mapk8ip2	T	C	15: 89,458,995	W647R	probably damaging	Het
Mettl21c	C	T	1: 44,010,556	V110I	probably damaging	Het
Mrgprh	T	C	17: 12,877,227	L118P	probably damaging	Het
Myadm	A	G	7: 3,297,102	T127A	probably benign	Het
Myh10	A	T	11: 68,751,940		probably null	Het
Nadk	T	A	4: 155,584,255	Y128N	probably benign	Het
Olfr1089	T	C	2: 86,733,592	T7A	probably damaging	Het
Olfr996	T	C	2: 85,579,863	V208A	probably benign	Het
Papolg	A	G	11: 23,868,378	I500T	probably benign	Het
Pkhd1	A	T	1: 20,058,384	C4032S	probably benign	Het
Rnase1	A	T	14: 51,145,870	L9Q	probably damaging	Het
Rspry1	G	T	8: 94,649,761	V304L	probably benign	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Scpep1	T	C	11: 88,947,142		probably null	Het
Serpina3m	T	A	12: 104,389,116	I14N	probably damaging	Het
Smg6	A	C	11: 74,993,874		probably benign	Het
Suz12	T	C	11: 80,030,053	M593T	probably damaging	Het
Tmem139	A	G	6: 42,264,105	E208G	probably damaging	Het
Tnxb	A	G	17: 34,698,231	Y2200C	probably damaging	Het
Usp19	T	G	9: 108,498,694	V911G	probably damaging	Het
Vipr1	T	C	9: 121,664,618	L245P	probably damaging	Het
Vmn2r105	T	A	17: 20,228,640	I92F	probably damaging	Het
Zfp518b	A	G	5: 38,671,728	V978A	probably damaging	Het
Zfp651	T	A	9: 121,766,539	V576D	probably damaging	Het

Other mutations in Enpep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Enpep	APN	3	129332082	missense	possibly damaging	0.69
IGL01895:Enpep	APN	3	129270334	missense	possibly damaging	0.89
IGL02193:Enpep	APN	3	129281687	missense	possibly damaging	0.46
IGL02215:Enpep	APN	3	129270277	splice site	probably benign
IGL02511:Enpep	APN	3	129321410	missense	probably damaging	1.00
IGL02579:Enpep	APN	3	129284090	missense	probably benign	0.07
IGL02634:Enpep	APN	3	129309857	missense	probably damaging	1.00
IGL03034:Enpep	APN	3	129298950	missense	probably damaging	0.99
IGL03214:Enpep	APN	3	129293247	missense	probably benign
IGL03401:Enpep	APN	3	129312620	missense	probably benign	0.01
P0041:Enpep	UTSW	3	129332198	missense	possibly damaging	0.80
R0371:Enpep	UTSW	3	129283867	critical splice donor site	probably null
R0479:Enpep	UTSW	3	129312674	missense	possibly damaging	0.65
R1036:Enpep	UTSW	3	129284109	missense	probably damaging	0.99
R1466:Enpep	UTSW	3	129319448	missense	probably damaging	1.00
R1466:Enpep	UTSW	3	129319448	missense	probably damaging	1.00
R1584:Enpep	UTSW	3	129319448	missense	probably damaging	1.00
R2060:Enpep	UTSW	3	129280523	missense	probably benign	0.14
R2101:Enpep	UTSW	3	129298938	missense	probably benign	0.00
R2153:Enpep	UTSW	3	129280582	missense	probably damaging	0.99
R2474:Enpep	UTSW	3	129284158	missense	possibly damaging	0.77
R3618:Enpep	UTSW	3	129284158	missense	possibly damaging	0.77
R3619:Enpep	UTSW	3	129284158	missense	possibly damaging	0.77
R4291:Enpep	UTSW	3	129270317	nonsense	probably null
R4438:Enpep	UTSW	3	129284091	missense	possibly damaging	0.94
R4570:Enpep	UTSW	3	129281548	missense	possibly damaging	0.67
R4678:Enpep	UTSW	3	129303713	critical splice donor site	probably null
R4679:Enpep	UTSW	3	129303713	critical splice donor site	probably null
R4748:Enpep	UTSW	3	129332163	missense	probably damaging	1.00
R4878:Enpep	UTSW	3	129276771	missense	probably benign	0.17
R4954:Enpep	UTSW	3	129284180	missense	probably damaging	0.98
R5074:Enpep	UTSW	3	129303755	missense	probably damaging	1.00
R5261:Enpep	UTSW	3	129305426	missense	probably damaging	1.00
R5328:Enpep	UTSW	3	129280510	missense	probably benign	0.30
R5661:Enpep	UTSW	3	129276757	missense	probably damaging	0.98
R5687:Enpep	UTSW	3	129299094	splice site	probably null
R5695:Enpep	UTSW	3	129309099	missense	probably damaging	1.00
R5697:Enpep	UTSW	3	129309123	missense	probably benign
R5889:Enpep	UTSW	3	129312578	missense	probably damaging	1.00
R5940:Enpep	UTSW	3	129312578	missense	probably damaging	1.00
R5968:Enpep	UTSW	3	129280938	missense	probably benign
R5976:Enpep	UTSW	3	129299124	missense	probably damaging	0.97
R6151:Enpep	UTSW	3	129332418	missense	possibly damaging	0.82
R6367:Enpep	UTSW	3	129332081	missense	possibly damaging	0.94
R6468:Enpep	UTSW	3	129331860	critical splice donor site	probably null
R6484:Enpep	UTSW	3	129321481	missense	probably damaging	0.96
R6938:Enpep	UTSW	3	129298950	missense	probably damaging	0.99
R6989:Enpep	UTSW	3	129280950	missense	probably damaging	1.00
R7073:Enpep	UTSW	3	129312670	nonsense	probably null
R7258:Enpep	UTSW	3	129332075	missense	probably benign	0.01
R7452:Enpep	UTSW	3	129271403	missense	possibly damaging	0.81
R7576:Enpep	UTSW	3	129284091	missense	probably benign	0.03
R7684:Enpep	UTSW	3	129321445	missense	probably damaging	1.00
R7697:Enpep	UTSW	3	129309101	missense	probably damaging	1.00
R8050:Enpep	UTSW	3	129305516	missense	probably damaging	1.00
R8080:Enpep	UTSW	3	129299134	missense	probably damaging	1.00
R8318:Enpep	UTSW	3	129270337	missense	probably damaging	1.00
R8423:Enpep	UTSW	3	129309125	missense	probably damaging	1.00
R8474:Enpep	UTSW	3	129319427	missense	probably damaging	1.00
R8532:Enpep	UTSW	3	129276653	nonsense	probably null
R8826:Enpep	UTSW	3	129271418	missense	probably damaging	0.97
R8884:Enpep	UTSW	3	129321403	missense	possibly damaging	0.88
R8936:Enpep	UTSW	3	129332235	missense	possibly damaging	0.63
R8937:Enpep	UTSW	3	129321358	critical splice donor site	probably null
R8959:Enpep	UTSW	3	129319441	missense	probably damaging	1.00
R9348:Enpep	UTSW	3	129309123	missense	probably benign	0.03
R9375:Enpep	UTSW	3	129331880	missense	probably benign	0.00
Z1177:Enpep	UTSW	3	129276680	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTGGTACCTGCTCCCCAG -3'
(R):5'- TGCATTAAAGGCAAACACGTG -3'

Sequencing Primer
(F):5'- CTGATGTGGAGCCATAGGTCAC -3'
(R):5'- AACACGTGGCCATCATCTGTG -3'

Posted On

2015-06-24