Mutagenetix > Incidental Mutation

Incidental Mutation 'R1575:Lrrc2'

171112

Institutional Source

Beutler Lab

Gene Symbol

Lrrc2

Ensembl Gene

ENSMUSG00000032495

Gene Name

leucine rich repeat containing 2

Synonyms

2400002D05Rik, 4933431K03Rik

MMRRC Submission

039613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1575 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110780613-110813134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110808555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 264 (G264D)

Ref Sequence

ENSEMBL: ENSMUSP00000035076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035076]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035076
AA Change: G264D

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000035076
Gene: ENSMUSG00000032495
AA Change: G264D

Domain	Start	End	E-Value	Type
Blast:LRR	143	165	5e-7	BLAST
LRR_TYP	166	189	4.87e-4	SMART
LRR	236	258	1.41e1	SMART
LRR	259	282	2.27e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197846

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosome 3 common eliminated region 1 (C3CER1), a 1.4 Mb region that is commonly deleted in diverse tumors. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	A	3: 148,558,398 (GRCm39)	T437S	probably benign	Het
Akna	A	G	4: 63,297,570 (GRCm39)	F828S	probably benign	Het
Alg9	G	T	9: 50,686,802 (GRCm39)	A40S	possibly damaging	Het
Alox8	T	A	11: 69,076,067 (GRCm39)	H628L	possibly damaging	Het
Aox3	T	C	1: 58,191,713 (GRCm39)	W422R	probably benign	Het
Atp13a4	T	C	16: 29,228,528 (GRCm39)	D984G	probably benign	Het
Bcam	T	C	7: 19,494,307 (GRCm39)	E363G	possibly damaging	Het
Cadps2	C	A	6: 23,429,217 (GRCm39)	V519F	probably damaging	Het
Calca	A	G	7: 114,234,396 (GRCm39)	Y18H	probably damaging	Het
Cd70	A	G	17: 57,453,364 (GRCm39)	I100T	probably damaging	Het
Cdk4	T	A	10: 126,900,520 (GRCm39)	H95Q	probably damaging	Het
Chchd1	T	A	14: 20,753,410 (GRCm39)	N11K	probably damaging	Het
Cma2	T	A	14: 56,210,272 (GRCm39)	N52K	probably damaging	Het
Cyp3a16	A	G	5: 145,373,267 (GRCm39)	V500A	probably benign	Het
Dicer1	A	G	12: 104,688,228 (GRCm39)		probably null	Het
Dnajc13	A	G	9: 104,034,037 (GRCm39)	S2206P	probably benign	Het
Dtl	T	C	1: 191,293,658 (GRCm39)		probably null	Het
Fam186b	T	C	15: 99,184,852 (GRCm39)	T24A	probably benign	Het
Fbxw21	A	G	9: 108,990,984 (GRCm39)	V25A	probably benign	Het
Gins1	T	C	2: 150,754,758 (GRCm39)	S45P	probably benign	Het
Gtpbp2	T	A	17: 46,476,869 (GRCm39)	V349D	probably damaging	Het
Hyal5	G	T	6: 24,876,792 (GRCm39)	D222Y	probably damaging	Het
Itgal	A	G	7: 126,900,060 (GRCm39)		probably null	Het
Klk14	A	G	7: 43,343,377 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,117,404 (GRCm39)	L2518Q	possibly damaging	Het
Ltbp4	A	G	7: 27,022,245 (GRCm39)	S893P	probably damaging	Het
Mast4	G	A	13: 102,875,771 (GRCm39)	P1107L	probably damaging	Het
Mbd1	T	A	18: 74,408,490 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Naip2	G	A	13: 100,291,537 (GRCm39)		probably benign	Het
Ncan	G	A	8: 70,562,848 (GRCm39)	T470I	probably benign	Het
Npy1r	A	T	8: 67,156,813 (GRCm39)	I78F	probably damaging	Het
Or10q1b	A	T	19: 13,682,889 (GRCm39)	M233L	probably benign	Het
Or8b52	G	A	9: 38,576,573 (GRCm39)	T189M	probably damaging	Het
Palb2	A	T	7: 121,710,061 (GRCm39)		probably null	Het
Pax3	T	C	1: 78,080,121 (GRCm39)	T422A	probably benign	Het
Pebp1	A	T	5: 117,424,229 (GRCm39)	D72E	possibly damaging	Het
Pnliprp1	A	T	19: 58,728,901 (GRCm39)	T363S	probably benign	Het
Rbm44	G	A	1: 91,084,565 (GRCm39)		probably null	Het
Rbm47	T	A	5: 66,182,358 (GRCm39)	Y425F	probably benign	Het
Robo3	G	T	9: 37,340,957 (GRCm39)	A83E	probably damaging	Het
Rrm1	A	G	7: 102,105,721 (GRCm39)	Y279C	probably damaging	Het
Rslcan18	A	T	13: 67,256,121 (GRCm39)		probably benign	Het
Scara5	C	A	14: 65,968,314 (GRCm39)	Q196K	probably benign	Het
Setd1b	C	T	5: 123,301,210 (GRCm39)		probably benign	Het
Siah1a	A	G	8: 87,451,869 (GRCm39)	F205S	probably damaging	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Ssu72	A	G	4: 155,815,814 (GRCm39)	D86G	probably benign	Het
St7	G	T	6: 17,886,110 (GRCm39)	K357N	probably damaging	Het
Sv2b	G	A	7: 74,797,425 (GRCm39)	T323I	probably damaging	Het
Syt1	T	C	10: 108,340,361 (GRCm39)	N319S	probably benign	Het
Tanc1	T	A	2: 59,621,995 (GRCm39)	F371L	probably damaging	Het
Tcf20	C	A	15: 82,739,693 (GRCm39)	G586V	probably benign	Het
Tg	T	C	15: 66,601,534 (GRCm39)		probably null	Het
Tyk2	A	T	9: 21,026,758 (GRCm39)	N620K	probably benign	Het
Ube2j1	T	A	4: 33,045,116 (GRCm39)	S130T	probably benign	Het
Ubr2	G	T	17: 47,243,418 (GRCm39)	P1696H	probably damaging	Het
Ubr5	A	T	15: 38,041,085 (GRCm39)	D266E	probably damaging	Het
Vipr2	A	G	12: 116,107,892 (GRCm39)	T426A	probably benign	Het
Vmn2r104	A	T	17: 20,262,477 (GRCm39)	W218R	probably damaging	Het
Vmn2r83	T	A	10: 79,314,956 (GRCm39)	N401K	probably damaging	Het
Vwf	A	G	6: 125,632,214 (GRCm39)	E82G	unknown	Het
Vwf	T	A	6: 125,640,534 (GRCm39)	Y2323*	probably null	Het
Wdr76	T	G	2: 121,359,402 (GRCm39)	V329G	probably damaging	Het
Zan	A	G	5: 137,460,214 (GRCm39)	C1226R	unknown	Het
Zbtb16	G	T	9: 48,743,572 (GRCm39)	Q247K	probably damaging	Het
Zfp541	T	C	7: 15,812,640 (GRCm39)	V431A	possibly damaging	Het

Other mutations in Lrrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:Lrrc2	APN	9	110,809,886 (GRCm39)	splice site	probably null
IGL02243:Lrrc2	APN	9	110,799,125 (GRCm39)	missense	probably damaging	1.00
IGL02715:Lrrc2	APN	9	110,799,182 (GRCm39)	missense	probably damaging	1.00
IGL02793:Lrrc2	APN	9	110,808,695 (GRCm39)	critical splice donor site	probably null
IGL02958:Lrrc2	APN	9	110,791,741 (GRCm39)	critical splice donor site	probably null
PIT4362001:Lrrc2	UTSW	9	110,791,608 (GRCm39)	missense	possibly damaging	0.91
R0255:Lrrc2	UTSW	9	110,809,966 (GRCm39)	missense	possibly damaging	0.87
R0472:Lrrc2	UTSW	9	110,791,685 (GRCm39)	missense	probably benign	0.00
R0909:Lrrc2	UTSW	9	110,791,741 (GRCm39)	critical splice donor site	probably null
R1619:Lrrc2	UTSW	9	110,790,041 (GRCm39)	missense	probably benign	0.00
R1669:Lrrc2	UTSW	9	110,810,718 (GRCm39)	missense	probably damaging	0.99
R1778:Lrrc2	UTSW	9	110,809,908 (GRCm39)	missense	probably benign
R1914:Lrrc2	UTSW	9	110,810,007 (GRCm39)	missense	probably damaging	1.00
R2165:Lrrc2	UTSW	9	110,808,645 (GRCm39)	missense	possibly damaging	0.78
R3792:Lrrc2	UTSW	9	110,795,585 (GRCm39)	nonsense	probably null
R3793:Lrrc2	UTSW	9	110,795,585 (GRCm39)	nonsense	probably null
R4499:Lrrc2	UTSW	9	110,791,713 (GRCm39)	missense	probably benign	0.11
R4683:Lrrc2	UTSW	9	110,791,614 (GRCm39)	missense	possibly damaging	0.95
R4693:Lrrc2	UTSW	9	110,799,161 (GRCm39)	missense	probably damaging	1.00
R4723:Lrrc2	UTSW	9	110,799,228 (GRCm39)	critical splice donor site	probably null
R5033:Lrrc2	UTSW	9	110,809,987 (GRCm39)	missense	probably damaging	0.98
R5935:Lrrc2	UTSW	9	110,795,629 (GRCm39)	missense	probably benign	0.17
R6269:Lrrc2	UTSW	9	110,810,017 (GRCm39)	missense	probably damaging	1.00
R6645:Lrrc2	UTSW	9	110,799,175 (GRCm39)	missense	probably damaging	1.00
R6855:Lrrc2	UTSW	9	110,782,250 (GRCm39)	splice site	probably null
R7621:Lrrc2	UTSW	9	110,809,899 (GRCm39)	missense	probably benign	0.00
R7748:Lrrc2	UTSW	9	110,809,999 (GRCm39)	missense	possibly damaging	0.63
R7827:Lrrc2	UTSW	9	110,790,049 (GRCm39)	missense	possibly damaging	0.93
R8169:Lrrc2	UTSW	9	110,809,954 (GRCm39)	missense	probably benign
R8186:Lrrc2	UTSW	9	110,789,910 (GRCm39)	missense	possibly damaging	0.67
R8458:Lrrc2	UTSW	9	110,799,218 (GRCm39)	missense	probably damaging	1.00
R9146:Lrrc2	UTSW	9	110,808,582 (GRCm39)	missense	probably damaging	1.00
R9198:Lrrc2	UTSW	9	110,791,722 (GRCm39)	missense	probably benign	0.05
R9568:Lrrc2	UTSW	9	110,799,228 (GRCm39)	critical splice donor site	probably null
R9680:Lrrc2	UTSW	9	110,791,710 (GRCm39)	missense	probably damaging	1.00
R9761:Lrrc2	UTSW	9	110,809,942 (GRCm39)	missense	possibly damaging	0.49
RF009:Lrrc2	UTSW	9	110,810,744 (GRCm39)	makesense	probably null
RF021:Lrrc2	UTSW	9	110,810,744 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GCGGCTTGTTCTGTAACTTGTTAAATCC -3'
(R):5'- CCGGTGTACTCACTTCAAAGGCG -3'

Sequencing Primer
(F):5'- gaaatccgcctgcctctac -3'
(R):5'- CTTCAAAGGCGTGGAGGC -3'

Posted On

2014-04-13