Mutagenetix > Incidental Mutation

Incidental Mutation 'R1669:Lrrc2'

187461

Institutional Source

Beutler Lab

Gene Symbol

Lrrc2

Ensembl Gene

ENSMUSG00000032495

Gene Name

leucine rich repeat containing 2

Synonyms

2400002D05Rik, 4933431K03Rik

MMRRC Submission

039705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1669 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110780613-110813134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110810718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 363 (T363A)

Ref Sequence

ENSEMBL: ENSMUSP00000035076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035076] [ENSMUST00000084922] [ENSMUST00000199891]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035076
AA Change: T363A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035076
Gene: ENSMUSG00000032495
AA Change: T363A

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: ENSMUST00000084922

SMART Domains

Protein: ENSMUSP00000081985
Gene: ENSMUSG00000066319

Domain	Start	End	E-Value	Type
zf-3CxxC	52	164	2.13e-52	SMART
low complexity region	356	404	N/A	INTRINSIC
low complexity region	458	474	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185439

Predicted Effect

probably benign
Transcript: ENSMUST00000196598

Predicted Effect

probably benign
Transcript: ENSMUST00000199891

SMART Domains

Protein: ENSMUSP00000143305
Gene: ENSMUSG00000066319

Domain	Start	End	E-Value	Type
zf-3CxxC	52	164	2.13e-52	SMART
low complexity region	356	404	N/A	INTRINSIC
low complexity region	458	474	N/A	INTRINSIC

Meta Mutation Damage Score

0.0903

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (85/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	A	C	9: 122,086,249 (GRCm39)	L258R	possibly damaging	Het
Ap3d1	A	G	10: 80,546,670 (GRCm39)		probably benign	Het
Aplp2	G	T	9: 31,079,029 (GRCm39)		probably benign	Het
Arhgap11a	T	C	2: 113,672,257 (GRCm39)	D237G	possibly damaging	Het
Arhgef4	A	T	1: 34,771,239 (GRCm39)	H1182L	possibly damaging	Het
Ash1l	G	A	3: 88,974,549 (GRCm39)		probably null	Het
Bicdl1	C	A	5: 115,794,075 (GRCm39)	V224L	possibly damaging	Het
Cacna1h	C	A	17: 25,602,445 (GRCm39)	V1422L	probably damaging	Het
Card10	T	C	15: 78,678,153 (GRCm39)	E365G	probably benign	Het
Cd180	C	T	13: 102,841,998 (GRCm39)	T348I	probably damaging	Het
Cds2	T	A	2: 132,137,439 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,370,339 (GRCm39)	D601E	probably benign	Het
Coprs	C	T	8: 13,935,704 (GRCm39)	W12*	probably null	Het
Cpsf3	T	A	12: 21,355,332 (GRCm39)	M424K	probably damaging	Het
Cxcl13	T	A	5: 96,106,600 (GRCm39)	N57K	probably damaging	Het
Dact1	C	T	12: 71,365,547 (GRCm39)	T776M	probably damaging	Het
Depdc1a	A	G	3: 159,228,561 (GRCm39)	K438E	probably benign	Het
Dop1b	T	A	16: 93,566,548 (GRCm39)	S992T	probably damaging	Het
Dusp11	A	T	6: 85,927,008 (GRCm39)	H202Q	probably benign	Het
Ezr	T	C	17: 7,006,712 (GRCm39)	E584G	probably damaging	Het
F830104G03Rik	A	G	3: 56,797,998 (GRCm39)	V6A	unknown	Het
Fam227a	G	A	15: 79,504,878 (GRCm39)		probably null	Het
Gapvd1	T	G	2: 34,620,694 (GRCm39)		probably null	Het
Gm10267	T	C	18: 44,290,367 (GRCm39)	R47G	probably damaging	Het
Hectd3	T	A	4: 116,856,840 (GRCm39)	D462E	probably damaging	Het
Hfe	A	T	13: 23,890,110 (GRCm39)	L133*	probably null	Het
Hpcal4	T	C	4: 123,082,869 (GRCm39)	F72L	probably damaging	Het
Itgb4	G	A	11: 115,882,156 (GRCm39)	R825H	probably benign	Het
Kcnh8	T	A	17: 53,200,996 (GRCm39)	Y477N	probably damaging	Het
Kctd1	T	C	18: 15,195,517 (GRCm39)	N369D	possibly damaging	Het
Kdm1b	C	T	13: 47,222,024 (GRCm39)	R488C	probably damaging	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klra8	A	T	6: 130,092,592 (GRCm39)	C236*	probably null	Het
Lca5l	T	C	16: 95,961,008 (GRCm39)	R485G	possibly damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,818,672 (GRCm39)	G1314D	possibly damaging	Het
Mmp10	A	T	9: 7,505,526 (GRCm39)		probably null	Het
Mmp13	A	G	9: 7,277,926 (GRCm39)	D273G	probably benign	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Msh4	C	T	3: 153,582,357 (GRCm39)	R417Q	possibly damaging	Het
Nedd9	A	T	13: 41,465,270 (GRCm39)	V790E	probably damaging	Het
Nlgn1	C	A	3: 25,490,298 (GRCm39)	L476F	probably damaging	Het
Nox4	C	A	7: 86,945,097 (GRCm39)	Q118K	probably benign	Het
Nxf1	A	G	19: 8,749,495 (GRCm39)	T131A	possibly damaging	Het
Oog3	C	A	4: 143,885,008 (GRCm39)	R309S	probably benign	Het
Oosp3	C	T	19: 11,678,378 (GRCm39)		probably benign	Het
Or10a3	T	A	7: 108,479,920 (GRCm39)	T298S	probably benign	Het
Or2a7	T	A	6: 43,151,755 (GRCm39)	S278R	probably damaging	Het
Or2w6	A	T	13: 21,843,456 (GRCm39)	S12R	possibly damaging	Het
Or4c126	T	A	2: 89,824,144 (GRCm39)		probably null	Het
Or51a42	A	T	7: 103,708,516 (GRCm39)	S98T	probably benign	Het
Or5b97	A	T	19: 12,878,652 (GRCm39)	I164K	possibly damaging	Het
P2ry6	A	G	7: 100,587,630 (GRCm39)	V243A	probably damaging	Het
Pgc	C	A	17: 48,044,715 (GRCm39)	P321T	probably damaging	Het
Pramel22	T	G	4: 143,380,916 (GRCm39)	E369A	possibly damaging	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Prkdc	T	A	16: 15,551,922 (GRCm39)	S2043T	probably damaging	Het
Rasal3	T	C	17: 32,622,072 (GRCm39)	N96D	possibly damaging	Het
Rnf4	T	C	5: 34,508,624 (GRCm39)	F162S	probably damaging	Het
Ros1	A	T	10: 52,037,907 (GRCm39)	N421K	probably damaging	Het
Rtn4rl1	A	G	11: 75,156,753 (GRCm39)	D395G	probably benign	Het
Scn8a	T	G	15: 100,909,001 (GRCm39)	V823G	probably damaging	Het
Sema3d	T	A	5: 12,558,051 (GRCm39)		probably benign	Het
Slc12a2	T	C	18: 58,037,307 (GRCm39)	I501T	probably damaging	Het
Slc12a7	C	T	13: 73,943,232 (GRCm39)	T382I	probably benign	Het
Slc16a12	T	A	19: 34,657,781 (GRCm39)	I41L	probably benign	Het
Slc1a1	C	A	19: 28,889,194 (GRCm39)	T489K	probably benign	Het
Slc24a3	C	T	2: 145,455,512 (GRCm39)	P467L	probably damaging	Het
Slco1a8	T	A	6: 141,933,415 (GRCm39)	I457F	probably benign	Het
Snai2	A	T	16: 14,524,908 (GRCm39)	Y138F	possibly damaging	Het
Sorcs1	A	C	19: 50,463,860 (GRCm39)	Y197D	probably damaging	Het
Sppl2a	T	A	2: 126,759,714 (GRCm39)		probably benign	Het
Srgap3	G	A	6: 112,699,865 (GRCm39)	P1038S	probably benign	Het
Ttn	T	C	2: 76,554,807 (GRCm39)	E30699G	probably damaging	Het
Vmn2r124	T	A	17: 18,283,206 (GRCm39)	M300K	possibly damaging	Het
Vwf	T	C	6: 125,624,869 (GRCm39)	S1873P	possibly damaging	Het
Wrap73	A	G	4: 154,240,588 (GRCm39)	D360G	probably damaging	Het
Zfp366	T	C	13: 99,366,069 (GRCm39)	M410T	probably damaging	Het
Zfp608	C	T	18: 55,120,811 (GRCm39)	V259I	probably benign	Het
Zfp69	C	T	4: 120,804,695 (GRCm39)		probably benign	Het
Zfp995	T	C	17: 22,098,945 (GRCm39)	T430A	probably benign	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
R1575:Lrrc2	UTSW	9	110,808,555 (GRCm39)	missense	probably benign	0.07
R1619:Lrrc2	UTSW	9	110,790,041 (GRCm39)	missense	probably benign	0.00
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'- CGGGACCGCCAGCATTTTGATA -3'
(R):5'- ACCCTCTAGCCCTTGATTCCTGAAC -3'

Sequencing Primer
(F):5'- aaccaaaacaaaaaacaacaacaac -3'
(R):5'- GCCCTTGATTCCTGAACATAATG -3'

Posted On

2014-05-09