Mutagenetix > Incidental Mutation

Incidental Mutation 'R7881:Npepl1'

608739

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 #

R7881 (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 174120594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 351 (D351G)

Ref Sequence

ENSEMBL: ENSMUSP00000042808 (fasta)

Gene Model

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

AlphaFold

Q6NSR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000044415
AA Change: D351G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042808
Gene: ENSMUSG00000039263
AA Change: D351G

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

probably benign
Transcript: ENSMUST00000125502

SMART Domains

Protein: ENSMUSP00000133202
Gene: ENSMUSG00000039263

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,323,566	N1030S	possibly damaging	Het
4930507D05Rik	A	G	10: 62,449,524	H9R	unknown	Het
Anks1b	T	A	10: 90,967,018	S398T	probably benign	Het
Bbox1	T	A	2: 110,292,526	K139N	probably benign	Het
Birc6	C	A	17: 74,641,671	H3047N	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Camta1	G	A	4: 151,835,876	S18F	probably damaging	Het
Ccnb1ip1	T	C	14: 50,793,820	Y12C	possibly damaging	Het
Celsr3	G	A	9: 108,828,072	A585T	probably benign	Het
Col6a4	T	C	9: 106,080,298	N109S	probably benign	Het
Crisp4	A	T	1: 18,128,669	D180E	probably benign	Het
D230025D16Rik	C	A	8: 105,249,452	T347N	probably benign	Het
Dmxl1	T	A	18: 49,864,383	M546K	probably damaging	Het
Dnah11	C	T	12: 117,987,502	V3024I	probably benign	Het
Dnah2	T	C	11: 69,431,238	D3752G	probably damaging	Het
Dram1	G	T	10: 88,324,747	D237E	probably benign	Het
Ehbp1l1	T	C	19: 5,719,398	N626D	probably benign	Het
Elavl1	T	G	8: 4,311,763	N3T	probably damaging	Het
Fam184a	A	G	10: 53,698,493	V340A	probably benign	Het
Fam205a1	C	T	4: 42,851,586	C190Y	probably benign	Het
Fam35a	A	T	14: 34,267,767	M394K	possibly damaging	Het
Fer1l5	C	T	1: 36,407,036	T876M	not run	Het
Foxp2	T	A	6: 15,409,889	V471E	unknown	Het
Fstl5	G	A	3: 76,536,298	G317R	probably damaging	Het
Gm30302	A	G	13: 49,790,071	S44P	possibly damaging	Het
Gm32742	T	C	9: 51,149,114	E963G	possibly damaging	Het
Gpbp1	A	T	13: 111,439,199	S257T	possibly damaging	Het
Gsdmc4	C	T	15: 63,897,719	C218Y	possibly damaging	Het
Hmg20b	T	C	10: 81,346,608	H298R	probably damaging	Het
Igf2r	A	T	17: 12,748,704	C72S	probably benign	Het
Kcnip1	A	G	11: 33,633,206	M193T	probably damaging	Het
Khdc1c	G	T	1: 21,369,675	C150F	probably benign	Het
Kmt2b	A	G	7: 30,579,783	S1485P	probably damaging	Het
Lnpep	A	G	17: 17,566,739	S533P	probably benign	Het
Megf8	T	A	7: 25,340,635	V997E	possibly damaging	Het
Mob2	T	C	7: 142,009,440	Y94C	probably damaging	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nrg1	G	A	8: 31,838,324	Q213*	probably null	Het
Nrp2	A	G	1: 62,771,831	D677G	probably benign	Het
Olfr1033	C	A	2: 86,041,470	Q52K	probably benign	Het
Olfr124	G	T	17: 37,805,429	G95C	probably damaging	Het
Olfr143	T	A	9: 38,254,110	M228K	probably benign	Het
Olfr259	G	T	2: 87,108,057	T110K	probably damaging	Het
Olfr679	G	T	7: 105,086,573	V286F	probably damaging	Het
Olfr746	A	G	14: 50,653,447	E70G	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454		probably benign	Het
Prune2	G	A	19: 17,123,029	V1966I	possibly damaging	Het
Ptch2	A	G	4: 117,110,388	H751R	probably benign	Het
Ptges2	T	A	2: 32,402,231	M353K	probably damaging	Het
Pum3	G	A	19: 27,396,328	Q564*	probably null	Het
Qtrt1	A	G	9: 21,419,341	D279G	probably damaging	Het
Rftn1	C	T	17: 50,047,435	V300I	probably benign	Het
Robo2	T	C	16: 73,920,697	T1172A	probably benign	Het
Sdc3	A	G	4: 130,816,933	D74G	unknown	Het
Setd1b	A	G	5: 123,152,273	M768V	unknown	Het
Siglech	A	T	7: 55,772,541	H298L	probably benign	Het
Sipa1	A	T	19: 5,651,676	L977Q	probably damaging	Het
Slc9c1	G	A	16: 45,582,969	V800I	probably benign	Het
Tbc1d8	C	T	1: 39,386,023	R582Q	probably damaging	Het
Tmem247	T	A	17: 86,922,300	F190I	probably damaging	Het
Trim42	C	A	9: 97,363,017	A577S	possibly damaging	Het
Ubiad1	G	A	4: 148,444,269	T61I	probably benign	Het
Usp40	G	A	1: 87,995,713	Q279*	probably null	Het
Usp48	A	G	4: 137,633,455	N733S	probably benign	Het
Vmn2r83	A	T	10: 79,478,427	I170F	probably benign	Het
Xkr4	G	A	1: 3,216,264	P568S	probably damaging	Het
Zc3h7b	T	C	15: 81,780,478	W513R	probably damaging	Het
Zfp40	T	C	17: 23,191,466		probably benign	Het
Zfp652	T	A	11: 95,750,109	S287T	possibly damaging	Het
Znrf3	G	A	11: 5,444,533	A49V	unknown	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
R6487:Npepl1	UTSW	2	174111732	missense	probably benign	0.16
R7267:Npepl1	UTSW	2	174122116	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'- AGGTGTCTCATAGTCCTGGGAG -3'
(R):5'- GTACTTCCCTGTGGCAATGC -3'

Sequencing Primer
(F):5'- TCCTGGGAGGGCACGTG -3'
(R):5'- ATGGGTTCCGGTCCAACC -3'

Posted On

2019-12-20