Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02399:Lrr1'

291809

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrr1

Ensembl Gene

ENSMUSG00000034883

Gene Name

leucine rich repeat protein 1

Synonyms

2410005L11Rik, Ppil5, LRR-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02399

Quality Score

Status

Chromosome

Chromosomal Location

69215588-69225783 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 69215665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 12 (C12*)

Ref Sequence

ENSEMBL: ENSMUSP00000152301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110621] [ENSMUST00000222520]

AlphaFold

D3YY91

Predicted Effect

probably null
Transcript: ENSMUST00000110621
AA Change: C12*

SMART Domains

Protein: ENSMUSP00000106251
Gene: ENSMUSG00000034883
AA Change: C12*

Domain	Start	End	E-Value	Type
LRR	184	206	8.09e-1	SMART
LRR	207	230	4.57e0	SMART
LRR	234	255	7.17e1	SMART
LRR	256	278	1.71e2	SMART
LRR	279	301	6.05e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222382

Predicted Effect

probably null
Transcript: ENSMUST00000222520
AA Change: C12*

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	C	T	2: 150,700,413 (GRCm39)		probably benign	Het
Adarb1	G	A	10: 77,131,588 (GRCm39)	P624S	probably benign	Het
Afg3l2	A	T	18: 67,562,110 (GRCm39)	F322I	possibly damaging	Het
Arhgap23	A	G	11: 97,381,831 (GRCm39)		probably benign	Het
Atp13a1	A	G	8: 70,259,751 (GRCm39)	N1114S	probably damaging	Het
C3ar1	T	C	6: 122,826,838 (GRCm39)	N460D	probably benign	Het
Cacna1e	A	G	1: 154,279,493 (GRCm39)	Y1988H	probably damaging	Het
Calr	T	C	8: 85,569,415 (GRCm39)		probably benign	Het
D5Ertd579e	A	G	5: 36,773,529 (GRCm39)	S289P	probably damaging	Het
Erbb4	G	A	1: 68,081,596 (GRCm39)		probably benign	Het
Fam98a	A	G	17: 75,845,936 (GRCm39)		probably benign	Het
Gm3739	A	T	14: 18,505,274 (GRCm39)	D83E	possibly damaging	Het
Gm5420	A	T	10: 21,567,071 (GRCm39)		noncoding transcript	Het
Heatr5b	A	G	17: 79,135,396 (GRCm39)	V245A	probably damaging	Het
Kptn	C	A	7: 15,861,038 (GRCm39)		probably benign	Het
Llgl2	T	C	11: 115,735,661 (GRCm39)	C86R	probably damaging	Het
Mcf2	T	C	X: 59,180,812 (GRCm39)	D255G	probably damaging	Het
Med13	A	T	11: 86,174,771 (GRCm39)		probably benign	Het
Mthfd1	C	T	12: 76,364,406 (GRCm39)	T735M	probably damaging	Het
Nlrp2	C	T	7: 5,331,809 (GRCm39)	A196T	probably damaging	Het
Nnmt	T	C	9: 48,514,838 (GRCm39)	I60V	probably damaging	Het
Odad2	G	T	18: 7,285,719 (GRCm39)	Q215K	probably benign	Het
Or4c110	T	A	2: 88,832,507 (GRCm39)	T42S	probably benign	Het
Or6ae1	A	T	7: 139,742,513 (GRCm39)	S117T	probably benign	Het
P2rx3	T	C	2: 84,853,571 (GRCm39)	I140V	probably benign	Het
Patj	A	G	4: 98,480,173 (GRCm39)	N1293D	probably damaging	Het
Pitpnm2	G	A	5: 124,278,821 (GRCm39)		probably benign	Het
Ppp1r26	T	G	2: 28,343,292 (GRCm39)	V974G	probably benign	Het
Prrc2b	T	A	2: 32,116,973 (GRCm39)	L1376*	probably null	Het
Rab33a	T	A	X: 47,608,584 (GRCm39)	I36N	probably damaging	Het
Rab3gap1	A	T	1: 127,855,840 (GRCm39)	N493I	possibly damaging	Het
Scara3	C	A	14: 66,170,559 (GRCm39)	G107*	probably null	Het
Siglec1	T	C	2: 130,913,098 (GRCm39)	E1606G	probably benign	Het
Skint9	A	T	4: 112,246,447 (GRCm39)	Y222N	possibly damaging	Het
Slc47a1	A	T	11: 61,253,884 (GRCm39)	I185N	probably damaging	Het
Slc47a2	C	A	11: 61,193,020 (GRCm39)		probably benign	Het
Slc4a2	A	G	5: 24,639,711 (GRCm39)	I506V	probably damaging	Het
Slc9a4	A	C	1: 40,639,942 (GRCm39)	I245L	probably benign	Het
Smarcb1	T	C	10: 75,733,328 (GRCm39)	T357A	probably damaging	Het
Spata31d1d	A	G	13: 59,877,954 (GRCm39)		probably benign	Het
Stox2	T	A	8: 47,639,573 (GRCm39)	I874F	probably damaging	Het
Taar7b	A	T	10: 23,876,050 (GRCm39)	I72F	probably damaging	Het
Tacc2	G	A	7: 130,225,129 (GRCm39)	V605I	probably benign	Het
Tef	T	C	15: 81,699,301 (GRCm39)	L34P	probably damaging	Het
Trak2	A	G	1: 58,949,204 (GRCm39)	V532A	probably benign	Het
Usp13	T	A	3: 32,973,209 (GRCm39)	D795E	probably damaging	Het
Vmn1r32	T	A	6: 66,529,913 (GRCm39)	I288F	probably benign	Het
Vmn1r75	T	C	7: 11,615,093 (GRCm39)	I275T	possibly damaging	Het
Zfp871	A	T	17: 32,993,329 (GRCm39)	F615L	probably benign	Het
Zfp941	G	A	7: 140,392,612 (GRCm39)	T249M	probably benign	Het
Zhx1	T	C	15: 57,917,137 (GRCm39)	I370V	probably damaging	Het

Other mutations in Lrr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Lrr1	APN	12	69,221,356 (GRCm39)	missense	probably benign	0.04
R0525:Lrr1	UTSW	12	69,215,685 (GRCm39)	missense	probably damaging	1.00
R1187:Lrr1	UTSW	12	69,221,796 (GRCm39)	missense	probably benign	0.01
R2375:Lrr1	UTSW	12	69,221,697 (GRCm39)	missense	probably benign	0.00
R4748:Lrr1	UTSW	12	69,221,236 (GRCm39)	missense	probably benign	0.29
R5283:Lrr1	UTSW	12	69,221,428 (GRCm39)	missense	probably damaging	1.00
R5830:Lrr1	UTSW	12	69,225,445 (GRCm39)	missense	possibly damaging	0.63
R6259:Lrr1	UTSW	12	69,221,589 (GRCm39)	missense	probably damaging	1.00
R6264:Lrr1	UTSW	12	69,215,655 (GRCm39)	missense	probably damaging	1.00
R6788:Lrr1	UTSW	12	69,221,449 (GRCm39)	missense	probably damaging	1.00
R8408:Lrr1	UTSW	12	69,215,825 (GRCm39)	missense	probably benign	0.01
R8431:Lrr1	UTSW	12	69,225,470 (GRCm39)	missense	possibly damaging	0.92
R9400:Lrr1	UTSW	12	69,221,476 (GRCm39)	missense	probably benign	0.23
R9663:Lrr1	UTSW	12	69,221,884 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16