Mutagenetix > Incidental Mutation

Incidental Mutation 'R5283:Lrr1'

402893

Institutional Source

Beutler Lab

Gene Symbol

Lrr1

Ensembl Gene

ENSMUSG00000034883

Gene Name

leucine rich repeat protein 1

Synonyms

2410005L11Rik, Ppil5, LRR-1

MMRRC Submission

042868-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5283 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69215588-69225783 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69221428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 190 (L190S)

Ref Sequence

ENSEMBL: ENSMUSP00000106251 (fasta)

Gene Model

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

AlphaFold

D3YY91

Predicted Effect

probably damaging
Transcript: ENSMUST00000110621
AA Change: L190S

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

SMART Domains

Protein: ENSMUSP00000106251
Gene: ENSMUSG00000034883
AA Change: L190S

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 benign
Transcript: ENSMUST00000222520

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	C	T	1: 74,323,165 (GRCm39)	E53K	possibly damaging	Het
Amotl1	T	C	9: 14,469,780 (GRCm39)	E651G	probably damaging	Het
Ankrd11	A	C	8: 123,610,921 (GRCm39)	V2655G	probably damaging	Het
Apbb1ip	G	A	2: 22,757,683 (GRCm39)	V434M	probably benign	Het
Atp5pd	T	C	11: 115,306,611 (GRCm39)	Y150C	probably damaging	Het
Ccdc13	T	A	9: 121,637,254 (GRCm39)	D75V	probably damaging	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Crh	T	C	3: 19,748,171 (GRCm39)	H157R	probably damaging	Het
Cstdc6	T	C	16: 36,142,205 (GRCm39)	D57G	probably damaging	Het
Dpp4	G	A	2: 62,190,680 (GRCm39)	T392I	probably damaging	Het
Ehd3	G	T	17: 74,127,498 (GRCm39)	A144S	probably benign	Het
Fnip2	A	T	3: 79,373,015 (GRCm39)	I1021N	probably damaging	Het
Fus	T	A	7: 127,584,719 (GRCm39)		probably benign	Het
Glo1	T	C	17: 30,819,047 (GRCm39)	T92A	probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm15130	A	C	2: 110,965,754 (GRCm39)	M165R	unknown	Het
Gon4l	T	C	3: 88,794,897 (GRCm39)	L700P	probably damaging	Het
Grm1	C	A	10: 10,608,936 (GRCm39)	D566Y	possibly damaging	Het
Guca1b	T	C	17: 47,702,195 (GRCm39)		probably benign	Het
Has3	A	G	8: 107,600,747 (GRCm39)	M70V	probably damaging	Het
Hydin	G	T	8: 111,178,612 (GRCm39)	C1069F	possibly damaging	Het
Ints1	A	C	5: 139,750,137 (GRCm39)	L920R	probably damaging	Het
Kdm2a	T	C	19: 4,381,297 (GRCm39)	I54V	probably benign	Het
Kpna2	G	A	11: 106,881,658 (GRCm39)	T324I	probably damaging	Het
Lrrc49	A	T	9: 60,594,461 (GRCm39)	H16Q	probably benign	Het
Mab21l4	C	T	1: 93,087,575 (GRCm39)	D93N	probably benign	Het
Mapkap1	A	G	2: 34,334,360 (GRCm39)	E147G	probably damaging	Het
Mrpl2	C	T	17: 46,959,992 (GRCm39)	R219W	possibly damaging	Het
Muc21	A	G	17: 35,932,224 (GRCm39)		probably benign	Het
Ndc80	A	G	17: 71,828,130 (GRCm39)	S66P	probably benign	Het
Notch1	A	G	2: 26,358,638 (GRCm39)	Y1398H	probably damaging	Het
Olfml2b	C	T	1: 170,508,758 (GRCm39)	R539*	probably null	Het
Or6b9	T	A	7: 106,555,955 (GRCm39)	T63S	probably benign	Het
Pde7a	T	C	3: 19,314,420 (GRCm39)	T59A	probably damaging	Het
Plekhg1	G	A	10: 3,906,654 (GRCm39)	V524I	probably benign	Het
Plin4	T	A	17: 56,413,777 (GRCm39)	M283L	probably benign	Het
Prp2	C	T	6: 132,577,606 (GRCm39)	P298S	unknown	Het
Rap1gap2	G	A	11: 74,286,651 (GRCm39)	R550C	probably damaging	Het
Reln	G	A	5: 22,216,161 (GRCm39)	T1008I	probably damaging	Het
Rffl	T	C	11: 82,703,615 (GRCm39)	K103E	probably damaging	Het
Rmnd5b	A	T	11: 51,517,887 (GRCm39)	F156I	probably damaging	Het
Rtn4ip1	T	C	10: 43,778,461 (GRCm39)	I68T	probably damaging	Het
Samhd1	T	C	2: 156,951,412 (GRCm39)	I442V	possibly damaging	Het
Slc12a4	A	T	8: 106,677,326 (GRCm39)		probably null	Het
Slc35b1	G	T	11: 95,275,814 (GRCm39)		probably benign	Het
Ssh1	A	G	5: 114,088,606 (GRCm39)	V354A	probably damaging	Het
Stk33	T	C	7: 108,935,334 (GRCm39)	K153E	possibly damaging	Het
Stk4	C	T	2: 163,952,199 (GRCm39)	R19*	probably null	Het
Tas2r136	A	T	6: 132,754,374 (GRCm39)	I251N	probably damaging	Het
Tbr1	A	T	2: 61,635,244 (GRCm39)	T65S	probably benign	Het
Tkt	C	T	14: 30,282,575 (GRCm39)	S124F	probably damaging	Het
Tll1	T	C	8: 64,555,000 (GRCm39)	I228V	possibly damaging	Het
Tmem236	A	G	2: 14,179,644 (GRCm39)	I82V	probably benign	Het
Vmn2r110	T	C	17: 20,800,899 (GRCm39)	Q511R	probably benign	Het
Vmn2r98	T	C	17: 19,300,981 (GRCm39)	M661T	probably benign	Het
Vps13a	T	A	19: 16,655,334 (GRCm39)	K1898I	probably damaging	Het
Zc3h12a	T	C	4: 125,020,558 (GRCm39)	E95G	probably benign	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
IGL02399:Lrr1	APN	12	69,215,665 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TCATAGAGGCTGTGACGTCAAC -3'
(R):5'- CACAGGGAGCGCTTTGATTTTG -3'

Sequencing Primer
(F):5'- GGCTGTGACGTCAACACACC -3'
(R):5'- GTTCTTGCTGAGATCCAAACTG -3'

Posted On

2016-07-22