Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Lap3'

557569

Institutional Source

Beutler Lab

Gene Symbol

Lap3

Ensembl Gene

ENSMUSG00000039682

Gene Name

leucine aminopeptidase 3

Synonyms

Pep-7, LAP, peptidase S, Pep-S, Pep7

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45493374-45512691 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45498467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 138 (P138L)

Ref Sequence

ENSEMBL: ENSMUSP00000040222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046122] [ENSMUST00000198534]

AlphaFold

Q9CPY7

Predicted Effect

probably benign
Transcript: ENSMUST00000046122
AA Change: P138L

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040222
Gene: ENSMUSG00000039682
AA Change: P138L

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:Peptidase_M17_N	37	169	1.5e-21	PFAM
Pfam:Peptidase_M17	197	508	1.3e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198534

SMART Domains

Protein: ENSMUSP00000142831
Gene: ENSMUSG00000039682

Domain	Start	End	E-Value	Type
SCOP:d1lam_1	11	56	2e-10	SMART
PDB:1LCP\|B	12	107	5e-25	PDB
SCOP:d1lam_2	63	106	2e-12	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and developmentally normal with no detectable abnormalities in generating peptides presented by MHC class I under constitutive conditions or after stimulation with IFN. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abca8a	T	A	11: 110,074,142	Q443L	probably benign	Het
Acad12	A	T	5: 121,607,373	M285K	probably damaging	Het
Afdn	T	A	17: 13,888,946	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,313,615	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,626,053	E526G	probably damaging	Het
Car13	A	G	3: 14,645,208	D70G	probably benign	Het
Ccdc127	A	T	13: 74,352,877	L4F	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ccr10	A	G	11: 101,174,278	I142T	probably benign	Het
Cep126	C	T	9: 8,087,399	V1005M	probably benign	Het
Chil6	A	G	3: 106,394,412	I124T	probably benign	Het
Coq8a	A	G	1: 180,170,341		probably null	Het
Ctf2	T	A	7: 127,719,304	K174N	probably damaging	Het
Dapk1	T	C	13: 60,696,395	V76A	possibly damaging	Het
Disp1	A	G	1: 183,087,625	M1077T	possibly damaging	Het
Dnah9	T	A	11: 65,855,372	K3972*	probably null	Het
Dusp7	T	A	9: 106,368,915	S40T	unknown	Het
Emg1	T	C	6: 124,705,749	T88A	probably benign	Het
Fbxo5	A	G	10: 5,802,043	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,225,980	D167A	probably damaging	Het
Fes	A	T	7: 80,380,861	V562E	probably damaging	Het
Foxj1	C	G	11: 116,332,408	G190R	probably damaging	Het
Gatsl2	C	A	5: 134,135,190	T75N	probably damaging	Het
Gdf15	T	G	8: 70,631,342	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,487,010	V355F	probably damaging	Het
Herc4	T	A	10: 63,308,415	Y776N	probably benign	Het
Hspg2	G	A	4: 137,514,719	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Itpr1	C	T	6: 108,386,640	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,126,696	I519K	probably benign	Het
Kcnh5	T	A	12: 74,897,709	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,919,489	Y103H	probably damaging	Het
Knl1	A	G	2: 119,070,785	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,226,454	L1466Q	probably damaging	Het
Lhx1	G	A	11: 84,519,872	P300S	probably damaging	Het
Mppe1	G	A	18: 67,229,771	A131V	probably benign	Het
Neb	A	T	2: 52,271,592	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,817,720	F740L	probably benign	Het
Nop10	A	G	2: 112,262,046	N8S	probably benign	Het
Olfr1097	A	C	2: 86,890,649	H175Q	probably benign	Het
Opalin	T	A	19: 41,069,935	T20S	possibly damaging	Het
Pask	C	T	1: 93,310,905	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,815,663	E44V	probably damaging	Het
Pde1a	A	G	2: 79,865,214	M463T	probably benign	Het
Pde6a	A	T	18: 61,281,525	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,106,112	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,139,363	N234S	probably damaging	Het
Ptprm	T	A	17: 66,809,627	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,069,090	D30Y	probably benign	Het
Rassf10	A	T	7: 112,954,500	I103F	probably damaging	Het
Rfc4	A	G	16: 23,115,433	I206T	probably benign	Het
Rhcg	A	G	7: 79,617,441	F29S	probably damaging	Het
Sec11c	A	G	18: 65,812,732	I89V	probably benign	Het
Serac1	T	C	17: 6,065,076	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,273,162	N175S	probably null	Het
Slc25a19	C	T	11: 115,616,547	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,465,383	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,636,245		probably benign	Het
Spats1	T	A	17: 45,449,169	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,603	T219A	probably benign	Het
Spink13	A	G	18: 62,614,955	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,081,746	*439Q	probably null	Het
Tmed2	T	A	5: 124,546,920	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,660,536	Y370*	probably null	Het
Ttn	A	G	2: 76,812,244	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,363,280	M381K	probably damaging	Het
Wdr26	A	G	1: 181,203,130	Y200H	probably damaging	Het
Wdr78	G	A	4: 103,096,616	P129S	probably benign	Het
Zfhx4	A	T	3: 5,244,083	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,286,441	L173P	probably benign	Het

Other mutations in Lap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Lap3	APN	5	45506169	unclassified	probably benign
IGL00945:Lap3	APN	5	45504773	splice site	probably null
IGL01694:Lap3	APN	5	45498595	critical splice donor site	probably null
IGL02427:Lap3	APN	5	45511133	missense	probably damaging	0.99
IGL02751:Lap3	APN	5	45504796	missense	probably damaging	1.00
R0110:Lap3	UTSW	5	45495290	splice site	probably benign
R0666:Lap3	UTSW	5	45511928	missense	possibly damaging	0.53
R1023:Lap3	UTSW	5	45495211	missense	probably benign	0.04
R1157:Lap3	UTSW	5	45507148	missense	probably damaging	1.00
R1294:Lap3	UTSW	5	45498521	missense	probably benign	0.03
R1449:Lap3	UTSW	5	45509519	critical splice donor site	probably null
R1869:Lap3	UTSW	5	45503387	missense	probably benign	0.00
R1900:Lap3	UTSW	5	45511910	missense	probably damaging	1.00
R1971:Lap3	UTSW	5	45506166	unclassified	probably benign
R2009:Lap3	UTSW	5	45493557	missense	probably benign	0.37
R4171:Lap3	UTSW	5	45509491	missense	probably benign	0.45
R4708:Lap3	UTSW	5	45511138	missense	probably damaging	1.00
R4941:Lap3	UTSW	5	45506197	missense	probably benign	0.19
R5558:Lap3	UTSW	5	45504751	missense	probably benign	0.00
R5761:Lap3	UTSW	5	45504805	missense	probably benign	0.01
R5893:Lap3	UTSW	5	45511279	intron	probably benign
R6407:Lap3	UTSW	5	45511925	missense	probably damaging	1.00
R7144:Lap3	UTSW	5	45496948	missense	probably benign	0.00
R7489:Lap3	UTSW	5	45500506	missense	probably damaging	1.00
R8163:Lap3	UTSW	5	45512047	nonsense	probably null
R8175:Lap3	UTSW	5	45509491	missense	probably benign	0.45
R8430:Lap3	UTSW	5	45497384	missense	probably benign	0.00
R8883:Lap3	UTSW	5	45511930	missense	probably benign	0.01
R9022:Lap3	UTSW	5	45495206	missense	probably benign
R9046:Lap3	UTSW	5	45495220	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACCTCTGTACTCAGCTCG -3'
(R):5'- CGTCTCTCCAAAGCATGCTGTC -3'

Sequencing Primer
(F):5'- TACTCAGCTCGGCTAGTGAG -3'
(R):5'- ATGCTGTCAGAATGCCTGC -3'

Posted On

2019-06-26