Mutagenetix > Incidental Mutation

Incidental Mutation 'R0479:Enpep'

43251

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

038679-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0479 (G1)

Quality Score

173

Status

Validated (trace)

Chromosome

Chromosomal Location

129062824-129126369 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129106323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 301 (V301A)

Ref Sequence

ENSEMBL: ENSMUSP00000029658 (fasta)

Gene Model

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

AlphaFold

P16406

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029658
AA Change: V301A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: V301A

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: ENSMUST00000169240

SMART Domains

Protein: ENSMUSP00000129759
Gene: ENSMUSG00000028024

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

Predicted Effect

unknown
Transcript: ENSMUST00000170918
AA Change: V228A

SMART Domains

Protein: ENSMUSP00000128872
Gene: ENSMUSG00000028024
AA Change: V228A

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

98% (105/107)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,159,712 (GRCm39)	V269A	probably benign	Het
Acsl1	G	A	8: 46,984,109 (GRCm39)	G543R	probably damaging	Het
Adam18	T	C	8: 25,141,838 (GRCm39)	N244D	probably benign	Het
Adgra3	C	T	5: 50,147,607 (GRCm39)	V478M	probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Arhgef10	A	T	8: 15,041,070 (GRCm39)	E723V	probably damaging	Het
Arid3a	C	A	10: 79,787,128 (GRCm39)	N519K	possibly damaging	Het
Atrn	T	A	2: 130,841,085 (GRCm39)	Y1162*	probably null	Het
Cacng5	T	A	11: 107,768,777 (GRCm39)	N172Y	probably benign	Het
Cct8	C	T	16: 87,284,594 (GRCm39)	V198M	probably damaging	Het
Cep192	G	A	18: 67,991,089 (GRCm39)	S1857N	probably damaging	Het
Cherp	A	T	8: 73,216,991 (GRCm39)	D657E	possibly damaging	Het
Clca3a2	T	G	3: 144,796,610 (GRCm39)	D199A	probably damaging	Het
Cops7b	A	G	1: 86,532,798 (GRCm39)	T219A	probably benign	Het
Crb1	C	T	1: 139,126,352 (GRCm39)	M1392I	probably damaging	Het
Csf3r	A	C	4: 125,937,616 (GRCm39)	E833D	probably damaging	Het
Cutc	A	G	19: 43,756,655 (GRCm39)	E247G	probably damaging	Het
Cyp2c38	A	G	19: 39,451,449 (GRCm39)	L17P	probably damaging	Het
D5Ertd615e	T	A	5: 45,320,796 (GRCm39)		noncoding transcript	Het
Ddx60	G	T	8: 62,422,691 (GRCm39)	G643W	probably damaging	Het
Depdc1a	C	T	3: 159,226,497 (GRCm39)	T268I	probably damaging	Het
Dgke	T	C	11: 88,943,296 (GRCm39)	E231G	probably benign	Het
Dhrs7b	T	A	11: 60,746,513 (GRCm39)		probably benign	Het
Dll3	A	G	7: 28,000,974 (GRCm39)	V27A	probably damaging	Het
Dnmt3c	T	A	2: 153,556,861 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,176,861 (GRCm39)	F1461L	probably damaging	Het
Eny2	T	A	15: 44,299,000 (GRCm39)		probably null	Het
Esr1	A	G	10: 4,947,911 (GRCm39)	D488G	probably damaging	Het
Ets1	A	G	9: 32,641,476 (GRCm39)	K110E	probably damaging	Het
Eya2	T	A	2: 165,557,876 (GRCm39)	Y157*	probably null	Het
F830045P16Rik	T	G	2: 129,314,608 (GRCm39)	D223A	possibly damaging	Het
Fbh1	A	G	2: 11,763,230 (GRCm39)	Y475H	probably damaging	Het
Fbxo39	T	C	11: 72,208,419 (GRCm39)	I257T	probably damaging	Het
Fkbp10	T	C	11: 100,306,740 (GRCm39)	V23A	probably damaging	Het
Foxp3	A	G	X: 7,453,583 (GRCm39)	I128V	possibly damaging	Het
Fzd7	T	C	1: 59,522,867 (GRCm39)	F250S	probably damaging	Het
Gaa	A	G	11: 119,172,062 (GRCm39)	T722A	possibly damaging	Het
Gemin5	A	G	11: 58,030,377 (GRCm39)	V816A	probably benign	Het
Glb1l3	T	A	9: 26,740,389 (GRCm39)	T314S	probably benign	Het
H2-Ab1	A	G	17: 34,483,942 (GRCm39)	E101G	possibly damaging	Het
Hydin	A	C	8: 111,325,720 (GRCm39)	T4710P	probably damaging	Het
Ica1	C	T	6: 8,754,627 (GRCm39)	V48M	probably damaging	Het
Ica1	T	C	6: 8,754,683 (GRCm39)	Y29C	probably damaging	Het
Ints7	T	A	1: 191,346,666 (GRCm39)		probably null	Het
Iqub	T	C	6: 24,505,809 (GRCm39)	E33G	probably benign	Het
Itgb1bp2	T	A	X: 100,492,806 (GRCm39)	C10S	probably damaging	Het
Katnip	T	C	7: 125,442,518 (GRCm39)	L809S	probably benign	Het
Kcnd1	T	A	X: 7,697,461 (GRCm39)	I391N	possibly damaging	Het
Kdm8	T	C	7: 125,051,812 (GRCm39)	L135P	probably damaging	Het
Ksr1	T	C	11: 78,916,109 (GRCm39)	D574G	probably damaging	Het
Lama5	C	T	2: 179,826,250 (GRCm39)	R2331H	probably benign	Het
Larp1	C	A	11: 57,933,646 (GRCm39)	N357K	possibly damaging	Het
Lgi3	C	T	14: 70,771,992 (GRCm39)		probably benign	Het
Lmbrd1	T	A	1: 24,785,878 (GRCm39)		probably benign	Het
Methig1	A	T	15: 100,272,825 (GRCm39)	K53*	probably null	Het
Mfap3	T	A	11: 57,420,469 (GRCm39)	I150N	probably damaging	Het
Mug1	A	T	6: 121,817,186 (GRCm39)	Q85L	probably benign	Het
Npl	A	G	1: 153,391,155 (GRCm39)	V200A	probably damaging	Het
Nuf2	A	T	1: 169,326,503 (GRCm39)		probably benign	Het
Obscn	A	G	11: 59,003,533 (GRCm39)	V1255A	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5h18	C	T	16: 58,847,491 (GRCm39)	V260M	possibly damaging	Het
Or8b51	T	C	9: 38,569,478 (GRCm39)	D70G	probably damaging	Het
P2rx1	T	C	11: 72,903,787 (GRCm39)	V283A	probably damaging	Het
Pex2	C	A	3: 5,626,355 (GRCm39)	L151F	probably damaging	Het
Pias1	A	G	9: 62,800,400 (GRCm39)		probably benign	Het
Pmfbp1	A	T	8: 110,257,105 (GRCm39)		probably benign	Het
Pogz	A	G	3: 94,783,947 (GRCm39)	K545E	possibly damaging	Het
Ppp3cb	T	C	14: 20,553,309 (GRCm39)		probably null	Het
Prl	G	A	13: 27,248,911 (GRCm39)	D189N	probably damaging	Het
Prpf6	A	G	2: 181,292,920 (GRCm39)	N794S	probably benign	Het
Prr36	G	A	8: 4,263,930 (GRCm39)	Q579*	probably null	Het
Ptprq	A	T	10: 107,479,855 (GRCm39)	Y1138*	probably null	Het
Rabepk	A	T	2: 34,675,592 (GRCm39)	H179Q	probably damaging	Het
Rest	T	C	5: 77,430,598 (GRCm39)	S1006P	probably damaging	Het
Rimklb	A	C	6: 122,441,175 (GRCm39)		probably benign	Het
Rnpepl1	T	C	1: 92,846,587 (GRCm39)		probably benign	Het
Ro60	A	T	1: 143,633,489 (GRCm39)	D536E	possibly damaging	Het
Sacs	T	A	14: 61,428,928 (GRCm39)	L329Q	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Setd5	A	T	6: 113,091,994 (GRCm39)	I272F	probably damaging	Het
Sgk1	G	T	10: 21,872,209 (GRCm39)	A262S	probably benign	Het
Skint2	G	A	4: 112,481,238 (GRCm39)	V34I	possibly damaging	Het
Skint5	G	C	4: 113,512,869 (GRCm39)	Q888E	unknown	Het
Slc4a3	T	C	1: 75,528,472 (GRCm39)		probably benign	Het
Sox10	T	C	15: 79,047,519 (GRCm39)	E133G	probably damaging	Het
Spryd3	G	A	15: 102,038,835 (GRCm39)	R129*	probably null	Het
Stag1	T	A	9: 100,810,144 (GRCm39)	N782K	probably benign	Het
Stam	T	C	2: 14,122,306 (GRCm39)	L132P	probably damaging	Het
Stard9	T	A	2: 120,528,077 (GRCm39)	S1445T	probably damaging	Het
Syt5	C	T	7: 4,546,108 (GRCm39)	R94Q	probably benign	Het
Tbc1d23	A	T	16: 56,992,177 (GRCm39)	H594Q	probably damaging	Het
Tecta	T	A	9: 42,249,235 (GRCm39)	I1871F	probably damaging	Het
Tek	A	G	4: 94,692,549 (GRCm39)	D219G	probably benign	Het
Thrb	T	C	14: 18,033,643 (GRCm38)	F469L	probably damaging	Het
Tyr	T	C	7: 87,142,429 (GRCm39)	S44G	possibly damaging	Het
Usp20	T	A	2: 30,907,487 (GRCm39)	V673E	probably benign	Het
Usp28	T	C	9: 48,948,513 (GRCm39)	S873P	probably damaging	Het
Usp43	C	T	11: 67,788,100 (GRCm39)	V306M	possibly damaging	Het
Wdr17	G	T	8: 55,104,456 (GRCm39)		probably null	Het
Wsb2	T	G	5: 117,514,744 (GRCm39)		probably benign	Het
Xkrx	A	T	X: 133,051,715 (GRCm39)	L312Q	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
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
R2474:Enpep	UTSW	3	129,077,807 (GRCm39)	missense	possibly damaging	0.77
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'- TAGTTCCCGTCAGACACGAAGTGC -3'
(R):5'- TGTGCAAGGCTACACAGAGCAG -3'

Sequencing Primer
(F):5'- CAGAGATGATCAGTAATTCATGGTG -3'
(R):5'- CTACACAGAGCAGGCTGG -3'

Posted On

2013-05-23