Mutagenetix > Incidental Mutation

Incidental Mutation 'R3771:Lrrn3'

273299

Institutional Source

Beutler Lab

Gene Symbol

Lrrn3

Ensembl Gene

ENSMUSG00000036295

Gene Name

leucine rich repeat protein 3, neuronal

Synonyms

NLRR-3

MMRRC Submission

040747-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R3771 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41451668-41486431 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41452870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 483 (I483L)

Ref Sequence

ENSEMBL: ENSMUSP00000043818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043884] [ENSMUST00000132121] [ENSMUST00000134965]

AlphaFold

Q8CBC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000043884
AA Change: I483L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: I483L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
LRRNT	28	73	9.17e-4	SMART
LRR	115	138	2.63e0	SMART
LRR_TYP	139	162	1.5e-4	SMART
LRR	163	186	7.55e-1	SMART
LRR	187	210	1.76e1	SMART
LRR	211	234	1.62e1	SMART
LRR	235	258	5.11e0	SMART
LRR	260	282	3.18e1	SMART
LRR	333	356	4.44e0	SMART
LRRCT	368	420	3.7e-5	SMART
IGc2	435	503	5.04e-9	SMART
FN3	521	602	3.49e0	SMART
transmembrane domain	626	648	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132121

SMART Domains

Protein: ENSMUSP00000118779
Gene: ENSMUSG00000056899

Domain	Start	End	E-Value	Type
Pfam:Peptidase_S24	38	115	7.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134965

SMART Domains

Protein: ENSMUSP00000116441
Gene: ENSMUSG00000056899

Domain	Start	End	E-Value	Type
Pfam:Peptidase_S24	38	114	6.4e-11	PFAM

Meta Mutation Damage Score

0.2392

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (69/70)

MGI Phenotype

PHENOTYPE: Homozygous null mutant mice exhibited increased mean percent body fat and male homozygous mutant mice exhibited enhanced glucose tolerance when compared with controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,931,196	Y377H	probably damaging	Het
1810041L15Rik	A	T	15: 84,406,685	Y120*	probably null	Het
Aanat	G	T	11: 116,596,871	G132V	probably damaging	Het
Abcb11	T	A	2: 69,329,376		probably benign	Het
Adam26b	T	A	8: 43,520,714	D417V	probably damaging	Het
Ank1	T	C	8: 23,123,897	S1482P	probably benign	Het
Armc2	C	T	10: 41,922,227	V768M	probably damaging	Het
Ascc3	C	T	10: 50,720,718		probably benign	Het
Birc6	T	A	17: 74,618,429		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh12	A	T	15: 21,578,554		probably benign	Het
Chd1	A	G	17: 17,374,651	D16G	probably damaging	Het
Clstn2	A	G	9: 97,582,562	I180T	probably damaging	Het
Cxcr6	A	G	9: 123,810,485	I184V	probably benign	Het
Dagla	G	A	19: 10,248,467	P778S	possibly damaging	Het
Ddx19b	T	C	8: 111,020,981	K107R	probably benign	Het
Dpyd	G	A	3: 119,412,278		probably null	Het
Elf1	T	C	14: 79,567,210	V105A	possibly damaging	Het
Fam13a	T	G	6: 58,987,186	K87T	probably benign	Het
Fap	C	A	2: 62,533,010	S359I	probably damaging	Het
Fbxo39	T	C	11: 72,317,215	I131T	possibly damaging	Het
Fmn1	T	G	2: 113,582,118	S996A	probably damaging	Het
Gm5866	T	C	5: 52,582,746		noncoding transcript	Het
Hmcn2	C	T	2: 31,360,896	T790M	probably damaging	Het
Irf2bp2	T	C	8: 126,591,811	K339E	probably damaging	Het
Kat6b	A	G	14: 21,517,098	D75G	probably damaging	Het
Kcnab3	A	G	11: 69,328,563	T127A	probably damaging	Het
Kdm5b	G	T	1: 134,613,345	C725F	probably damaging	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Man2c1	C	A	9: 57,140,377		probably benign	Het
Med23	G	T	10: 24,902,201	G810C	probably damaging	Het
Nhlrc4	T	A	17: 25,943,393	K127*	probably null	Het
Numb	T	C	12: 83,799,576	D344G	probably damaging	Het
Nup210l	T	G	3: 90,119,894	Y194*	probably null	Het
Ogg1	T	C	6: 113,333,843	V317A	possibly damaging	Het
Olfr822	A	G	10: 130,075,274	Y288C	probably damaging	Het
Olfr97	T	A	17: 37,231,465	I302F	possibly damaging	Het
Pclo	A	T	5: 14,539,408		probably null	Het
Pnpt1	T	C	11: 29,138,174	M195T	probably benign	Het
Polr3c	T	A	3: 96,725,854	T43S	probably damaging	Het
Ptprs	T	C	17: 56,428,978	T152A	possibly damaging	Het
Rasl10b	A	T	11: 83,418,523	T134S	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf39	T	C	17: 36,947,229	W96R	probably damaging	Het
Ros1	G	T	10: 52,128,991	A949E	probably damaging	Het
Rwdd2a	A	C	9: 86,574,161	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,483,648	N1909D	probably benign	Het
Ska3	C	T	14: 57,810,077	V334I	probably benign	Het
Srebf2	A	G	15: 82,182,108	K579R	probably benign	Het
Sun1	A	G	5: 139,238,820		probably benign	Het
Tc2n	T	A	12: 101,694,574	Q133L	possibly damaging	Het
Tecta	T	C	9: 42,330,996	T2094A	probably damaging	Het
Tex2	T	C	11: 106,546,894	D650G	unknown	Het
Trio	A	G	15: 27,748,091	S2492P	probably damaging	Het
Ttn	T	C	2: 76,771,367	T16872A	probably benign	Het
Ugcg	T	C	4: 59,189,690	F16S	probably benign	Het
Usp16	T	C	16: 87,458,683	M1T	probably null	Het
Vmn1r60	C	A	7: 5,544,711	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,589,657	D235G	probably benign	Het
Vpreb3	A	T	10: 75,939,966	V26E	probably benign	Het
Vps39	C	T	2: 120,342,016	V179I	possibly damaging	Het
Xrn2	T	C	2: 147,061,287	V765A	probably benign	Het
Zfp251	A	G	15: 76,853,636	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,473,117		probably null	Het
Zfp61	T	C	7: 24,295,981	M1V	probably null	Het

Other mutations in Lrrn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Lrrn3	APN	12	41452192	intron	probably benign
IGL02825:Lrrn3	APN	12	41452593	missense	probably damaging	1.00
IGL02927:Lrrn3	APN	12	41453344	missense	probably damaging	1.00
IGL02970:Lrrn3	APN	12	41452360	missense	probably benign
IGL02995:Lrrn3	APN	12	41452217	missense	probably damaging	1.00
IGL02999:Lrrn3	APN	12	41452751	missense	probably benign	0.01
IGL03182:Lrrn3	APN	12	41454021	missense	probably damaging	1.00
IGL03280:Lrrn3	APN	12	41454147	missense	probably damaging	0.97
PIT4469001:Lrrn3	UTSW	12	41453018	missense	probably benign	0.03
R0167:Lrrn3	UTSW	12	41454015	missense	probably damaging	1.00
R0414:Lrrn3	UTSW	12	41453940	missense	probably damaging	1.00
R0787:Lrrn3	UTSW	12	41454231	missense	probably damaging	1.00
R0894:Lrrn3	UTSW	12	41454034	missense	probably damaging	1.00
R1433:Lrrn3	UTSW	12	41452584	missense	possibly damaging	0.74
R1610:Lrrn3	UTSW	12	41452993	missense	possibly damaging	0.89
R1834:Lrrn3	UTSW	12	41453518	missense	probably damaging	1.00
R2068:Lrrn3	UTSW	12	41452996	missense	probably damaging	1.00
R2871:Lrrn3	UTSW	12	41452723	missense	probably benign	0.00
R2871:Lrrn3	UTSW	12	41452723	missense	probably benign	0.00
R4408:Lrrn3	UTSW	12	41454042	missense	probably benign	0.04
R4410:Lrrn3	UTSW	12	41452584	missense	possibly damaging	0.74
R4684:Lrrn3	UTSW	12	41454244	missense	possibly damaging	0.75
R4770:Lrrn3	UTSW	12	41452443	missense	probably benign	0.08
R4927:Lrrn3	UTSW	12	41453125	missense	probably damaging	1.00
R5037:Lrrn3	UTSW	12	41453595	missense	probably damaging	1.00
R5482:Lrrn3	UTSW	12	41452387	missense	probably benign	0.01
R5482:Lrrn3	UTSW	12	41452388	missense	probably damaging	0.96
R5667:Lrrn3	UTSW	12	41452298	missense	possibly damaging	0.77
R6022:Lrrn3	UTSW	12	41453430	missense	probably damaging	0.96
R6087:Lrrn3	UTSW	12	41453535	missense	possibly damaging	0.84
R6129:Lrrn3	UTSW	12	41453788	nonsense	probably null
R6309:Lrrn3	UTSW	12	41453206	missense	probably damaging	1.00
R7449:Lrrn3	UTSW	12	41453488	missense	probably damaging	1.00
R7555:Lrrn3	UTSW	12	41452911	missense	probably benign	0.01
R7560:Lrrn3	UTSW	12	41452713	missense	possibly damaging	0.93
R8059:Lrrn3	UTSW	12	41454217	missense	probably benign	0.22
R8134:Lrrn3	UTSW	12	41453048	missense	probably damaging	1.00
R8798:Lrrn3	UTSW	12	41453175	missense	possibly damaging	0.61
R9308:Lrrn3	UTSW	12	41453946	missense	probably damaging	1.00
R9318:Lrrn3	UTSW	12	41453244	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACACCAGAACAGAATTGGC -3'
(R):5'- TGTTCGGCAAGTGCATTTCAG -3'

Sequencing Primer
(F):5'- GAACAGAATTGGCCCTGATATCTC -3'
(R):5'- CAGGGATATGATGGAAATTTGCCTCC -3'

Posted On

2015-03-25