Mutagenetix > Incidental Mutation

Incidental Mutation 'R7748:Lrrc2'

597018

Institutional Source

Beutler Lab

Gene Symbol

Lrrc2

Ensembl Gene

ENSMUSG00000032495

Gene Name

leucine rich repeat containing 2

Synonyms

MMRRC Submission

045804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110951545-110984066 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 110980931 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 345 (M345R)

Ref Sequence

ENSEMBL: ENSMUSP00000035076 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035076
AA Change: M345R

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035076
Gene: ENSMUSG00000032495
AA Change: M345R

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 131,361,792 (GRCm38)	L103F	probably benign	Het
4932438A13Rik	A	G	3: 36,959,335 (GRCm38)		probably null	Het
5330417H12Rik	A	G	7: 107,624,558 (GRCm38)	L103P	unknown	Het
Actb	T	C	5: 142,904,695 (GRCm38)	I151V	probably benign	Het
Adcy6	T	A	15: 98,604,556 (GRCm38)	H59L	probably benign	Het
Adss	G	C	1: 177,772,202 (GRCm38)	S272*	probably null	Het
Aga	A	T	8: 53,511,805 (GRCm38)	M1L	possibly damaging	Het
Anxa5	G	A	3: 36,465,331 (GRCm38)	T3M	probably damaging	Het
Arhgap45	A	T	10: 80,016,932 (GRCm38)		probably benign	Het
Atp6v0a2	A	T	5: 124,716,496 (GRCm38)	H639L	probably benign	Het
BC005537	C	T	13: 24,803,399 (GRCm38)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 54,884,379 (GRCm38)		probably benign	Het
Bod1l	A	C	5: 41,832,340 (GRCm38)	S347A	probably damaging	Het
Calcoco1	T	C	15: 102,719,561 (GRCm38)	D46G	probably damaging	Het
Camk1	T	C	6: 113,340,328 (GRCm38)	E60G	probably damaging	Het
Capza1	A	T	3: 104,825,405 (GRCm38)		probably null	Het
Ccdc18	T	A	5: 108,149,041 (GRCm38)		probably null	Het
Cdh20	G	A	1: 104,941,299 (GRCm38)	A172T	probably damaging	Het
Cdk4	C	T	10: 127,064,429 (GRCm38)	A65V	possibly damaging	Het
Cftr	T	C	6: 18,277,889 (GRCm38)		probably null	Het
Chd3	T	C	11: 69,355,633 (GRCm38)	M1092V	probably benign	Het
Chd6	A	T	2: 160,966,619 (GRCm38)	H1558Q	probably benign	Het
Chil1	A	G	1: 134,189,228 (GRCm38)	H318R	probably benign	Het
Cps1	A	G	1: 67,139,806 (GRCm38)	Y59C	probably damaging	Het
Cyb5r4	T	C	9: 87,032,381 (GRCm38)	V111A	probably damaging	Het
D430042O09Rik	A	T	7: 125,829,801 (GRCm38)	M558L	probably benign	Het
Ddx39b	G	A	17: 35,252,750 (GRCm38)	V291M	probably damaging	Het
Dhx57	A	G	17: 80,265,117 (GRCm38)	F709S	probably damaging	Het
Eef1b2	A	T	1: 63,177,865 (GRCm38)	K64N	probably damaging	Het
Fam135a	A	G	1: 24,028,969 (GRCm38)	S940P	probably benign	Het
Fam234b	T	A	6: 135,209,351 (GRCm38)	V119E	probably damaging	Het
Fbxo46	G	C	7: 19,136,533 (GRCm38)	C359S	probably damaging	Het
Fkbp14	C	A	6: 54,595,520 (GRCm38)		probably benign	Het
Fmn2	T	A	1: 174,666,649 (GRCm38)	V1243E	probably damaging	Het
Fsbp	C	A	4: 11,579,924 (GRCm38)	T64K	probably damaging	Het
Fscb	A	T	12: 64,474,407 (GRCm38)	M95K	probably benign	Het
Fyb	T	G	15: 6,638,826 (GRCm38)	V500G	probably damaging	Het
G2e3	A	G	12: 51,371,667 (GRCm38)	N615S	probably benign	Het
Gart	T	C	16: 91,630,652 (GRCm38)	D486G	possibly damaging	Het
Gas2l2	T	A	11: 83,422,398 (GRCm38)	D696V	probably benign	Het
Glmn	C	T	5: 107,562,244 (GRCm38)		probably null	Het
Gm47985	A	T	1: 151,182,974 (GRCm38)	D122V	probably damaging	Het
Gm49333	A	T	16: 20,633,084 (GRCm38)	D407V	probably damaging	Het
Gm7168	A	G	17: 13,948,652 (GRCm38)	K94E	probably benign	Het
Gm996	T	A	2: 25,578,959 (GRCm38)	E313D	possibly damaging	Het
Gnai2	T	C	9: 107,615,735 (GRCm38)	H323R		Het
Helz2	C	T	2: 181,234,531 (GRCm38)	R1390H	probably damaging	Het
Igf2bp1	T	C	11: 95,967,587 (GRCm38)	M453V	probably benign	Het
Ighv3-1	C	T	12: 113,964,650 (GRCm38)	V30M	probably damaging	Het
Inpp5a	A	T	7: 139,574,995 (GRCm38)	R343S	probably damaging	Het
Itga8	T	A	2: 12,230,239 (GRCm38)	I403F	possibly damaging	Het
Krt33a	C	T	11: 100,011,602 (GRCm38)	R404H	probably benign	Het
Krt34	T	A	11: 100,038,938 (GRCm38)	E244V	probably damaging	Het
Krt42	T	C	11: 100,266,966 (GRCm38)	E224G	probably damaging	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 142,175,108 (GRCm38)		probably benign	Het
Lama1	T	C	17: 67,750,590 (GRCm38)	L553P		Het
Lcn9	T	A	2: 25,824,914 (GRCm38)	*179K	probably null	Het
March11	T	C	15: 26,387,830 (GRCm38)	V257A	probably damaging	Het
Masp2	T	C	4: 148,605,706 (GRCm38)	I224T	probably benign	Het
Mpz	A	T	1: 171,159,940 (GRCm38)		probably null	Het
Mtr	C	T	13: 12,227,839 (GRCm38)	A442T	probably benign	Het
Muc5b	A	G	7: 141,847,805 (GRCm38)	K596R	unknown	Het
Myo15	T	G	11: 60,504,901 (GRCm38)	F1397C		Het
Ncor2	T	C	5: 125,109,967 (GRCm38)	I173V	unknown	Het
Ngly1	T	A	14: 16,290,820 (GRCm38)	I434K	possibly damaging	Het
Notch2	A	G	3: 98,138,484 (GRCm38)	H1655R	possibly damaging	Het
Notum	C	T	11: 120,654,801 (GRCm38)	A390T	probably damaging	Het
Olfr381	T	G	11: 73,486,168 (GRCm38)	I219L	probably benign	Het
Olfr519	T	C	7: 108,894,078 (GRCm38)	T115A	probably benign	Het
Pds5a	T	A	5: 65,619,666 (GRCm38)	I51F	possibly damaging	Het
Pdzd2	C	A	15: 12,385,786 (GRCm38)	R966L	possibly damaging	Het
Plk3	T	C	4: 117,131,728 (GRCm38)	Y278C	probably damaging	Het
Plxna1	T	A	6: 89,337,353 (GRCm38)		probably null	Het
Plxna1	C	G	6: 89,337,352 (GRCm38)		probably null	Het
Ppp4r4	G	A	12: 103,605,061 (GRCm38)		probably null	Het
Pramel6	T	A	2: 87,508,699 (GRCm38)	V81E	probably damaging	Het
Prdm2	T	C	4: 143,135,889 (GRCm38)	E277G	possibly damaging	Het
Prkg1	T	A	19: 30,993,091 (GRCm38)	I222F	possibly damaging	Het
Proser3	A	T	7: 30,540,072 (GRCm38)	S536T	possibly damaging	Het
Prrt4	C	A	6: 29,177,191 (GRCm38)	G193V	probably damaging	Het
Ptpn21	A	T	12: 98,688,772 (GRCm38)	H645Q	probably benign	Het
Ptprd	T	C	4: 76,099,504 (GRCm38)	I744V	probably null	Het
Rad54l2	A	G	9: 106,719,034 (GRCm38)	V235A	possibly damaging	Het
Repin1	G	T	6: 48,597,345 (GRCm38)	E403*	probably null	Het
Rgs22	C	T	15: 36,122,269 (GRCm38)		probably null	Het
Rtcb	A	T	10: 85,941,968 (GRCm38)	D447E	probably benign	Het
Rtn1	C	T	12: 72,216,926 (GRCm38)	V744I	possibly damaging	Het
Scfd1	T	G	12: 51,389,357 (GRCm38)	I96M	probably benign	Het
Serpina3b	T	C	12: 104,130,463 (GRCm38)	M1T	probably null	Het
Slc1a4	T	C	11: 20,332,252 (GRCm38)	Y74C	probably damaging	Het
Slc9b2	A	T	3: 135,326,179 (GRCm38)	I267F	possibly damaging	Het
Sorcs2	A	T	5: 36,229,175 (GRCm38)	M173K	possibly damaging	Het
Sparc	T	C	11: 55,398,600 (GRCm38)	I226V	probably benign	Het
Spata22	T	G	11: 73,336,254 (GRCm38)	I98S	probably null	Het
Spef2	C	T	15: 9,652,945 (GRCm38)	V917M	probably damaging	Het
Sspo	C	A	6: 48,449,465 (GRCm38)	C139*	probably null	Het
Tenm4	A	G	7: 96,894,702 (GRCm38)	D2012G	probably damaging	Het
Tgm5	G	A	2: 121,052,808 (GRCm38)	R351C	probably damaging	Het
Tmem145	G	A	7: 25,307,328 (GRCm38)	W82*	probably null	Het
Tmem159	A	T	7: 120,115,479 (GRCm38)	I64F	possibly damaging	Het
Topors	T	A	4: 40,262,654 (GRCm38)	D210V	probably damaging	Het
Tssk4	A	T	14: 55,651,112 (GRCm38)	H146L	probably damaging	Het
Unc93b1	T	A	19: 3,935,250 (GRCm38)	D19E	unknown	Het
Usp17lc	A	G	7: 103,418,481 (GRCm38)	T328A	probably damaging	Het
Utrn	A	G	10: 12,614,508 (GRCm38)	Y43H	probably benign	Het
Vmn1r25	T	A	6: 57,978,564 (GRCm38)	I247F	probably damaging	Het
Vmn2r78	A	T	7: 86,921,135 (GRCm38)	Q287L	probably benign	Het
Vps13c	T	A	9: 67,963,089 (GRCm38)	I3170N	probably benign	Het
Zfc3h1	T	A	10: 115,400,815 (GRCm38)	M398K	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240 (GRCm38)		probably benign	Het
Zfp773	T	C	7: 7,132,908 (GRCm38)	R230G	probably benign	Het

Other mutations in Lrrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:Lrrc2	APN	9	110,980,818 (GRCm38)	splice site	probably null
IGL02243:Lrrc2	APN	9	110,970,057 (GRCm38)	missense	probably damaging	1.00
IGL02715:Lrrc2	APN	9	110,970,114 (GRCm38)	missense	probably damaging	1.00
IGL02793:Lrrc2	APN	9	110,979,627 (GRCm38)	critical splice donor site	probably null
IGL02958:Lrrc2	APN	9	110,962,673 (GRCm38)	critical splice donor site	probably null
PIT4362001:Lrrc2	UTSW	9	110,962,540 (GRCm38)	missense	possibly damaging	0.91
R0255:Lrrc2	UTSW	9	110,980,898 (GRCm38)	missense	possibly damaging	0.87
R0472:Lrrc2	UTSW	9	110,962,617 (GRCm38)	missense	probably benign	0.00
R0909:Lrrc2	UTSW	9	110,962,673 (GRCm38)	critical splice donor site	probably null
R1575:Lrrc2	UTSW	9	110,979,487 (GRCm38)	missense	probably benign	0.07
R1619:Lrrc2	UTSW	9	110,960,973 (GRCm38)	missense	probably benign	0.00
R1669:Lrrc2	UTSW	9	110,981,650 (GRCm38)	missense	probably damaging	0.99
R1778:Lrrc2	UTSW	9	110,980,840 (GRCm38)	missense	probably benign
R1914:Lrrc2	UTSW	9	110,980,939 (GRCm38)	missense	probably damaging	1.00
R2165:Lrrc2	UTSW	9	110,979,577 (GRCm38)	missense	possibly damaging	0.78
R3792:Lrrc2	UTSW	9	110,966,517 (GRCm38)	nonsense	probably null
R3793:Lrrc2	UTSW	9	110,966,517 (GRCm38)	nonsense	probably null
R4499:Lrrc2	UTSW	9	110,962,645 (GRCm38)	missense	probably benign	0.11
R4683:Lrrc2	UTSW	9	110,962,546 (GRCm38)	missense	possibly damaging	0.95
R4693:Lrrc2	UTSW	9	110,970,093 (GRCm38)	missense	probably damaging	1.00
R4723:Lrrc2	UTSW	9	110,970,160 (GRCm38)	critical splice donor site	probably null
R5033:Lrrc2	UTSW	9	110,980,919 (GRCm38)	missense	probably damaging	0.98
R5935:Lrrc2	UTSW	9	110,966,561 (GRCm38)	missense	probably benign	0.17
R6269:Lrrc2	UTSW	9	110,980,949 (GRCm38)	missense	probably damaging	1.00
R6645:Lrrc2	UTSW	9	110,970,107 (GRCm38)	missense	probably damaging	1.00
R6855:Lrrc2	UTSW	9	110,953,182 (GRCm38)	splice site	probably null
R7621:Lrrc2	UTSW	9	110,980,831 (GRCm38)	missense	probably benign	0.00
R7827:Lrrc2	UTSW	9	110,960,981 (GRCm38)	missense	possibly damaging	0.93
R8169:Lrrc2	UTSW	9	110,980,886 (GRCm38)	missense	probably benign
R8186:Lrrc2	UTSW	9	110,960,842 (GRCm38)	missense	possibly damaging	0.67
R8458:Lrrc2	UTSW	9	110,970,150 (GRCm38)	missense	probably damaging	1.00
R9146:Lrrc2	UTSW	9	110,979,514 (GRCm38)	missense	probably damaging	1.00
R9198:Lrrc2	UTSW	9	110,962,654 (GRCm38)	missense	probably benign	0.05
R9568:Lrrc2	UTSW	9	110,970,160 (GRCm38)	critical splice donor site	probably null
R9680:Lrrc2	UTSW	9	110,962,642 (GRCm38)	missense	probably damaging	1.00
R9761:Lrrc2	UTSW	9	110,980,874 (GRCm38)	missense	possibly damaging	0.49
RF009:Lrrc2	UTSW	9	110,981,676 (GRCm38)	makesense	probably null
RF021:Lrrc2	UTSW	9	110,981,676 (GRCm38)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- ACACAGAAGAGGAATTTTGCTGT -3'
(R):5'- GGTTCACAAATAGCCACAAATAATTT -3'

Sequencing Primer
(F):5'- GTTGAACAGTCCCAGTAAACACGTG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2019-11-26