Mutagenetix > Incidental Mutation

Incidental Mutation 'R0540:Lnpep'

49870

Institutional Source

Beutler Lab

Gene Symbol

Lnpep

Ensembl Gene

ENSMUSG00000023845

Gene Name

leucyl/cystinyl aminopeptidase

Synonyms

IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165

MMRRC Submission

038732-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0540 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17747985-17846303 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17758816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 843 (F843I)

Ref Sequence

ENSEMBL: ENSMUSP00000036998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041047]

AlphaFold

Q8C129

Predicted Effect

probably damaging
Transcript: ENSMUST00000041047
AA Change: F843I

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

SMART Domains

Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: F843I

Domain	Start	End	E-Value	Type
low complexity region	60	71	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Peptidase_M1	167	552	9.2e-143	PFAM
Pfam:ERAP1_C	689	1007	1e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231515

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a somewhat reduced tissue uptake of glucose either basally or after insulin stimulation. Mice homozygous for a different knock-out allele exhibit impaired coordination at 3 months and impaired spatial working memory in a Y maze at 6 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,926,627 (GRCm39)	T199A	possibly damaging	Het
Als2cl	C	A	9: 110,724,852 (GRCm39)	Y775*	probably null	Het
Ankhd1	G	T	18: 36,773,333 (GRCm39)	V59F	probably damaging	Het
Ano4	T	A	10: 88,859,806 (GRCm39)	I395F	probably benign	Het
Apcdd1	A	G	18: 63,084,967 (GRCm39)	N388S	possibly damaging	Het
Arl9	A	G	5: 77,155,118 (GRCm39)	Y83C	possibly damaging	Het
Armc2	T	A	10: 41,798,691 (GRCm39)	H706L	probably benign	Het
Arrb1	T	C	7: 99,237,403 (GRCm39)		probably null	Het
Atxn1	G	A	13: 45,711,006 (GRCm39)	S642L	probably damaging	Het
Bmp8a	A	G	4: 123,209,723 (GRCm39)	Y322H	probably damaging	Het
Btbd3	C	T	2: 138,125,736 (GRCm39)	R307W	possibly damaging	Het
C1galt1	T	C	6: 7,871,193 (GRCm39)	I343T	probably benign	Het
Capn2	A	T	1: 182,319,749 (GRCm39)	Y146*	probably null	Het
Ccdc42	C	T	11: 68,488,536 (GRCm39)	Q312*	probably null	Het
Cd209e	T	C	8: 3,901,265 (GRCm39)	K130E	probably benign	Het
Chd3	T	C	11: 69,235,184 (GRCm39)	D2054G	probably damaging	Het
Chrna1	T	C	2: 73,401,815 (GRCm39)	N161S	probably damaging	Het
Clp1	C	T	2: 84,555,935 (GRCm39)	A182T	possibly damaging	Het
Cpsf7	G	T	19: 10,510,682 (GRCm39)	E135*	probably null	Het
Csf2rb2	T	C	15: 78,172,108 (GRCm39)	Y325C	probably benign	Het
Cspg5	T	C	9: 110,076,460 (GRCm39)		probably null	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cyp2b13	G	A	7: 25,781,136 (GRCm39)	V183I	probably benign	Het
D430041D05Rik	C	T	2: 104,063,790 (GRCm39)	R1354H	probably damaging	Het
Ddx24	A	G	12: 103,385,326 (GRCm39)	Y426H	possibly damaging	Het
Dexi	G	T	16: 10,360,426 (GRCm39)	Y43*	probably null	Het
Dlg1	G	A	16: 31,656,992 (GRCm39)	V596I	possibly damaging	Het
Dnah11	A	C	12: 118,046,246 (GRCm39)	W1731G	probably damaging	Het
Dnhd1	T	A	7: 105,369,995 (GRCm39)	N4473K	probably benign	Het
Dync2h1	A	C	9: 7,051,480 (GRCm39)	S3152A	probably benign	Het
Edn3	C	A	2: 174,602,767 (GRCm39)	P3Q	probably damaging	Het
Eif2a	G	A	3: 58,463,073 (GRCm39)		probably null	Het
Emb	G	A	13: 117,369,286 (GRCm39)	V56I	possibly damaging	Het
Enpp4	A	T	17: 44,410,386 (GRCm39)	C397S	probably damaging	Het
Exo5	A	G	4: 120,779,178 (GRCm39)	V229A	probably damaging	Het
Fga	G	A	3: 82,935,869 (GRCm39)	G32E	probably damaging	Het
Fkbpl	T	C	17: 34,864,333 (GRCm39)	F34L	probably benign	Het
Fsd2	T	A	7: 81,194,765 (GRCm39)	D466V	probably damaging	Het
Gcn1	T	C	5: 115,727,015 (GRCm39)	V624A	probably benign	Het
Git2	A	G	5: 114,886,335 (GRCm39)	F336L	probably damaging	Het
Greb1	T	A	12: 16,732,194 (GRCm39)	Y1589F	probably damaging	Het
H2-K2	G	T	17: 34,218,474 (GRCm39)	D127E	probably damaging	Het
Ints8	A	G	4: 11,252,926 (GRCm39)	V52A	possibly damaging	Het
Kifc1	G	A	17: 34,105,621 (GRCm39)	T62I	probably damaging	Het
Klhl6	C	A	16: 19,775,764 (GRCm39)	D265Y	possibly damaging	Het
Kmt5a	T	A	5: 124,589,373 (GRCm39)	N190K	probably damaging	Het
Lce6a	A	T	3: 92,527,635 (GRCm39)	H57Q	probably benign	Het
Lipo3	A	T	19: 33,536,967 (GRCm39)	I251K	possibly damaging	Het
Lrrc45	C	T	11: 120,605,988 (GRCm39)	R99*	probably null	Het
Lrrtm1	C	A	6: 77,221,611 (GRCm39)	A356E	probably damaging	Het
Map3k1	A	C	13: 111,900,044 (GRCm39)	H493Q	probably benign	Het
Mcm4	A	T	16: 15,449,979 (GRCm39)		probably null	Het
Mllt3	G	A	4: 87,759,281 (GRCm39)	P256S	possibly damaging	Het
Mrtfb	A	G	16: 13,199,465 (GRCm39)	E106G	probably damaging	Het
Myo7a	T	A	7: 97,721,153 (GRCm39)	T1271S	probably damaging	Het
Ncan	C	A	8: 70,567,809 (GRCm39)	R101L	possibly damaging	Het
Ndufaf7	A	G	17: 79,253,885 (GRCm39)	D361G	probably benign	Het
Neurod6	C	T	6: 55,656,572 (GRCm39)	A22T	probably benign	Het
Nexn	T	A	3: 151,953,879 (GRCm39)	K192*	probably null	Het
Nipsnap2	A	T	5: 129,831,909 (GRCm39)	Y234F	probably damaging	Het
Nlrp10	T	C	7: 108,523,492 (GRCm39)	K663E	probably benign	Het
Nprl2	A	T	9: 107,422,497 (GRCm39)	Y329F	possibly damaging	Het
Nr2f2	C	A	7: 70,004,460 (GRCm39)	R264L	probably damaging	Het
Nsun7	A	T	5: 66,440,977 (GRCm39)	K366I	probably damaging	Het
Nup35	T	A	2: 80,472,984 (GRCm39)	M19K	probably benign	Het
Or10a4	T	A	7: 106,696,933 (GRCm39)	I87K	probably benign	Het
Or11i1	A	T	3: 106,729,829 (GRCm39)	F15L	probably damaging	Het
Or1ad6	C	A	11: 50,860,670 (GRCm39)	A275D	possibly damaging	Het
Or2v1	C	G	11: 49,025,549 (GRCm39)	H177D	probably damaging	Het
Or2w2	T	A	13: 21,757,948 (GRCm39)	Y226F	probably benign	Het
Or5af1	T	A	11: 58,722,798 (GRCm39)	S273T	probably damaging	Het
Or5p51	A	G	7: 107,444,776 (GRCm39)	S55P	probably damaging	Het
Patl2	T	C	2: 121,957,150 (GRCm39)	Y128C	probably benign	Het
Pcdhac2	A	G	18: 37,278,942 (GRCm39)	I641V	probably benign	Het
Peli3	T	C	19: 4,991,939 (GRCm39)	M1V	probably null	Het
Pex16	T	A	2: 92,205,982 (GRCm39)	L25*	probably null	Het
Plekhn1	C	A	4: 156,307,204 (GRCm39)	A449S	possibly damaging	Het
Pot1b	A	T	17: 55,972,765 (GRCm39)	I469N	probably damaging	Het
Prdx6	A	C	1: 161,078,673 (GRCm39)	L5W	probably damaging	Het
Prrc1	G	A	18: 57,507,622 (GRCm39)	V259I	possibly damaging	Het
Prss38	T	C	11: 59,266,369 (GRCm39)	S30G	possibly damaging	Het
Rgs6	C	A	12: 83,106,578 (GRCm39)	Y151*	probably null	Het
Ripk4	A	C	16: 97,545,375 (GRCm39)	L361R	probably damaging	Het
Serpinb3d	C	T	1: 107,006,962 (GRCm39)	D249N	probably benign	Het
Skint10	A	T	4: 112,630,224 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,731,713 (GRCm39)	N349K	probably benign	Het
Sohlh2	C	A	3: 55,115,104 (GRCm39)	S363Y	probably damaging	Het
Srsf10	A	G	4: 135,591,179 (GRCm39)	T210A	possibly damaging	Het
Synpo2l	A	T	14: 20,710,748 (GRCm39)	M624K	probably damaging	Het
Thsd7a	T	A	6: 12,331,541 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,938,692 (GRCm39)	V49E	probably damaging	Het
Tnik	A	C	3: 28,704,308 (GRCm39)	K989T	probably damaging	Het
Tnxb	T	A	17: 34,890,892 (GRCm39)	Y412N	probably damaging	Het
Trmt44	A	G	5: 35,726,103 (GRCm39)		probably null	Het
Tsc2	A	T	17: 24,840,686 (GRCm39)	V391E	probably damaging	Het
Ttll5	T	C	12: 85,980,450 (GRCm39)		probably null	Het
Usp28	A	G	9: 48,935,360 (GRCm39)	I104V	probably benign	Het
Vmn1r64	A	G	7: 5,887,096 (GRCm39)	L149S	probably damaging	Het
Yme1l1	T	A	2: 23,082,527 (GRCm39)	M506K	possibly damaging	Het
Zfp280d	T	A	9: 72,215,247 (GRCm39)	F98I	probably damaging	Het
Zfp62	C	A	11: 49,106,227 (GRCm39)	T106K	probably benign	Het

Other mutations in Lnpep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01983:Lnpep	APN	17	17,751,440 (GRCm39)	missense	probably damaging	1.00
IGL02008:Lnpep	APN	17	17,791,219 (GRCm39)	missense	probably benign	0.40
IGL02040:Lnpep	APN	17	17,765,167 (GRCm39)	missense	probably benign	0.13
IGL02392:Lnpep	APN	17	17,799,445 (GRCm39)	missense	possibly damaging	0.48
IGL02417:Lnpep	APN	17	17,765,165 (GRCm39)	missense	possibly damaging	0.57
IGL02659:Lnpep	APN	17	17,791,162 (GRCm39)	missense	possibly damaging	0.83
IGL02697:Lnpep	APN	17	17,773,455 (GRCm39)	missense	probably benign
IGL02947:Lnpep	APN	17	17,791,234 (GRCm39)	missense	probably damaging	1.00
IGL03493:Lnpep	APN	17	17,799,433 (GRCm39)	missense	probably damaging	1.00
I0000:Lnpep	UTSW	17	17,799,233 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Lnpep	UTSW	17	17,799,289 (GRCm39)	missense	probably benign	0.00
R0528:Lnpep	UTSW	17	17,751,394 (GRCm39)	splice site	probably benign
R0535:Lnpep	UTSW	17	17,791,935 (GRCm39)	missense	possibly damaging	0.91
R0586:Lnpep	UTSW	17	17,795,658 (GRCm39)	splice site	probably benign
R0607:Lnpep	UTSW	17	17,758,816 (GRCm39)	missense	probably damaging	1.00
R1502:Lnpep	UTSW	17	17,791,906 (GRCm39)	missense	probably damaging	1.00
R1570:Lnpep	UTSW	17	17,799,418 (GRCm39)	missense	probably damaging	1.00
R1733:Lnpep	UTSW	17	17,773,575 (GRCm39)	missense	probably benign	0.00
R1826:Lnpep	UTSW	17	17,783,098 (GRCm39)	missense	probably damaging	1.00
R2015:Lnpep	UTSW	17	17,799,325 (GRCm39)	missense	probably damaging	0.99
R2029:Lnpep	UTSW	17	17,788,661 (GRCm39)	missense	probably damaging	1.00
R4593:Lnpep	UTSW	17	17,799,289 (GRCm39)	missense	probably benign	0.00
R4638:Lnpep	UTSW	17	17,795,569 (GRCm39)	missense	probably damaging	1.00
R4741:Lnpep	UTSW	17	17,791,920 (GRCm39)	missense	probably damaging	1.00
R4919:Lnpep	UTSW	17	17,799,173 (GRCm39)	missense	probably damaging	1.00
R5030:Lnpep	UTSW	17	17,799,571 (GRCm39)	missense	probably damaging	1.00
R5111:Lnpep	UTSW	17	17,798,872 (GRCm39)	missense	possibly damaging	0.93
R5203:Lnpep	UTSW	17	17,757,325 (GRCm39)	missense	probably damaging	1.00
R5320:Lnpep	UTSW	17	17,766,727 (GRCm39)	missense	possibly damaging	0.83
R5419:Lnpep	UTSW	17	17,786,992 (GRCm39)	missense	probably damaging	1.00
R5535:Lnpep	UTSW	17	17,758,956 (GRCm39)	missense	probably benign	0.02
R5680:Lnpep	UTSW	17	17,799,444 (GRCm39)	nonsense	probably null
R6134:Lnpep	UTSW	17	17,773,454 (GRCm39)	missense	probably benign
R6142:Lnpep	UTSW	17	17,786,943 (GRCm39)	critical splice donor site	probably null
R6189:Lnpep	UTSW	17	17,787,001 (GRCm39)	missense	possibly damaging	0.46
R6225:Lnpep	UTSW	17	17,799,245 (GRCm39)	missense	possibly damaging	0.66
R6350:Lnpep	UTSW	17	17,783,071 (GRCm39)	missense	probably benign	0.01
R6357:Lnpep	UTSW	17	17,773,176 (GRCm39)	missense	probably benign	0.00
R6765:Lnpep	UTSW	17	17,750,758 (GRCm39)	missense	probably damaging	1.00
R6794:Lnpep	UTSW	17	17,751,421 (GRCm39)	missense	probably damaging	1.00
R7013:Lnpep	UTSW	17	17,788,625 (GRCm39)	missense	probably benign	0.04
R7208:Lnpep	UTSW	17	17,773,172 (GRCm39)	nonsense	probably null
R7268:Lnpep	UTSW	17	17,758,803 (GRCm39)	missense	probably benign
R7564:Lnpep	UTSW	17	17,798,854 (GRCm39)	missense	probably benign	0.22
R7746:Lnpep	UTSW	17	17,758,824 (GRCm39)	missense	probably benign
R7853:Lnpep	UTSW	17	17,783,109 (GRCm39)	missense	probably benign	0.00
R7881:Lnpep	UTSW	17	17,787,001 (GRCm39)	missense	probably benign	0.01
R8015:Lnpep	UTSW	17	17,766,761 (GRCm39)	missense	probably damaging	1.00
R8070:Lnpep	UTSW	17	17,758,900 (GRCm39)	missense	probably damaging	1.00
R8835:Lnpep	UTSW	17	17,750,118 (GRCm39)	missense	possibly damaging	0.81
R8843:Lnpep	UTSW	17	17,773,203 (GRCm39)	missense	probably damaging	1.00
R9136:Lnpep	UTSW	17	17,750,090 (GRCm39)	missense	probably benign	0.26
R9274:Lnpep	UTSW	17	17,758,837 (GRCm39)	missense	probably benign	0.01
R9427:Lnpep	UTSW	17	17,795,609 (GRCm39)	missense	probably benign	0.08
R9789:Lnpep	UTSW	17	17,795,596 (GRCm39)	missense	probably damaging	1.00
X0004:Lnpep	UTSW	17	17,765,074 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGTTACACAGACCCCATCTCCAAA -3'
(R):5'- GGCCAGAGTACATAAATTGCTCCAGAA -3'

Sequencing Primer
(F):5'- ccagaacccacataataaagtcaag -3'
(R):5'- TTGCTCCAGAACCAAATCCAG -3'

Posted On

2013-06-12