Mutagenetix > Incidental Mutation

Incidental Mutation 'R6487:Npepl1'

517470

Institutional Source

Beutler Lab

Gene Symbol

Npepl1

Ensembl Gene

ENSMUSG00000039263

Gene Name

aminopeptidase-like 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R6487 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

174110349-174123070 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 174111732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 152 (E152G)

Ref Sequence

ENSEMBL: ENSMUSP00000042808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044415]

AlphaFold

Q6NSR8

Predicted Effect

probably benign
Transcript: ENSMUST00000044415
AA Change: E152G

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000042808
Gene: ENSMUSG00000039263
AA Change: E152G

Domain	Start	End	E-Value	Type
low complexity region	22	32	N/A	INTRINSIC
Pfam:Peptidase_M17	179	484	1.9e-98	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000125502
AA Change: E76G

SMART Domains

Protein: ENSMUSP00000133202
Gene: ENSMUSG00000039263
AA Change: E76G

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M17	104	207	4.4e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153957

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,397,472	Y963H	possibly damaging	Het
Alpk2	T	C	18: 65,266,183	N2108S	possibly damaging	Het
Atp13a1	T	C	8: 69,799,878	S641P	probably damaging	Het
BC048403	T	C	10: 121,745,541	L13P	probably damaging	Het
Bptf	C	T	11: 107,077,726	V981I	probably damaging	Het
Cntrl	A	T	2: 35,122,682	K277N	possibly damaging	Het
Cops5	T	C	1: 10,037,779	T12A	probably benign	Het
Cyp2c37	A	T	19: 39,994,581	T205S	probably benign	Het
Dnah7c	T	C	1: 46,769,124	V3485A	probably damaging	Het
Ifna6	A	T	4: 88,827,506	N31Y	probably damaging	Het
Irgm1	C	A	11: 48,865,950	A345S	probably benign	Het
Med13	T	C	11: 86,331,150	T218A	probably damaging	Het
Mroh2b	G	T	15: 4,947,239	D1225Y	probably damaging	Het
Olfr1170	A	G	2: 88,224,526	S169P	possibly damaging	Het
Olfr1260	A	T	2: 89,977,838	D20V	probably benign	Het
Olfr1282	T	C	2: 111,335,667	D137G	probably benign	Het
Olfr196	A	T	16: 59,168,173		probably null	Het
Olfr921	A	G	9: 38,775,435	Y60C	probably damaging	Het
Oog2	A	G	4: 144,196,485	E440G	possibly damaging	Het
Ranbp2	T	C	10: 58,485,741	V2620A	probably benign	Het
Rims4	A	T	2: 163,864,897	F187Y	possibly damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Shisa9	C	T	16: 12,244,611	T232I	probably benign	Het
Slf1	A	T	13: 77,066,617	I650N	probably damaging	Het
Tpst2	T	C	5: 112,308,123	L176P	probably damaging	Het
U2surp	A	T	9: 95,477,512	M650K	probably damaging	Het
Vmn1r17	A	T	6: 57,361,224	M3K	possibly damaging	Het
Vmn1r55	A	G	7: 5,146,555	S290P	probably benign	Het
Vmn2r102	G	A	17: 19,677,907	E395K	probably damaging	Het
Wapl	T	A	14: 34,692,292	H370Q	probably damaging	Het
Xab2	T	C	8: 3,613,879	S347G	possibly damaging	Het

Other mutations in Npepl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Npepl1	APN	2	174120548	missense	probably damaging	1.00
IGL01651:Npepl1	APN	2	174114388	splice site	probably benign
IGL01998:Npepl1	APN	2	174116200	splice site	probably benign
IGL02079:Npepl1	APN	2	174119390	intron	probably benign
R0081:Npepl1	UTSW	2	174116086	missense	probably damaging	1.00
R1236:Npepl1	UTSW	2	174114480	critical splice donor site	probably null
R2350:Npepl1	UTSW	2	174111773	missense	probably benign
R3780:Npepl1	UTSW	2	174120654	missense	probably damaging	1.00
R3950:Npepl1	UTSW	2	174121113	missense	probably damaging	1.00
R4688:Npepl1	UTSW	2	174114442	missense	possibly damaging	0.78
R5650:Npepl1	UTSW	2	174121536	missense	possibly damaging	0.83
R5916:Npepl1	UTSW	2	174121544	missense	probably benign	0.01
R6007:Npepl1	UTSW	2	174121057	missense	probably benign	0.03
R7267:Npepl1	UTSW	2	174122116	missense	probably damaging	1.00
R7881:Npepl1	UTSW	2	174120594	missense	probably damaging	1.00
R8103:Npepl1	UTSW	2	174111209	missense	probably benign	0.00
R9547:Npepl1	UTSW	2	174120237	missense	probably null	0.88
R9740:Npepl1	UTSW	2	174121490	missense	probably damaging	0.99
Z1177:Npepl1	UTSW	2	174122130	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAGCTGCTATTGGGAGAGTC -3'
(R):5'- TGCATAATCAAATCACAGCTGC -3'

Sequencing Primer
(F):5'- AGAGTCCTGGTGGTGTCCC -3'
(R):5'- TGCACCAAACGGAGACCTG -3'

Posted On

2018-05-21