Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02927:Lrrn3'

363919

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrn3

Ensembl Gene

ENSMUSG00000036295

Gene Name

leucine rich repeat protein 3, neuronal

Synonyms

NLRR-3

Accession Numbers

Essential gene?

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

Stock #

IGL02927

Quality Score

Status

Chromosome

Chromosomal Location

41451668-41486431 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41453344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 325 (I325F)

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: I325F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: I325F

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

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	G	A	17: 48,036,920	Q192*	probably null	Het
Actl7b	C	A	4: 56,740,609	D250Y	probably damaging	Het
Akr1a1	T	A	4: 116,637,983	N273I	probably damaging	Het
Arhgap32	T	A	9: 32,261,135	I1737N	possibly damaging	Het
Cant1	T	C	11: 118,411,062	D143G	probably benign	Het
Cast	T	A	13: 74,736,994	D295V	probably damaging	Het
Cdh1	A	G	8: 106,668,511	N851D	probably damaging	Het
Cntn1	G	A	15: 92,291,680	R628H	probably benign	Het
Cul4a	A	G	8: 13,124,861	D279G	possibly damaging	Het
Cyp2s1	T	C	7: 25,808,152	K291E	probably benign	Het
Dhx35	A	T	2: 158,820,416	I205F	probably damaging	Het
Dpp8	G	T	9: 65,060,269	R518L	probably benign	Het
Fam35a	T	C	14: 34,267,701	Y416C	probably damaging	Het
Gm9	A	G	X: 37,210,554	I34T	possibly damaging	Het
Hmcn1	A	T	1: 150,577,278	C5429S	probably damaging	Het
Iqgap2	A	C	13: 95,724,676	L314R	possibly damaging	Het
Itgav	A	C	2: 83,795,540	Y810S	probably damaging	Het
Kcng4	G	T	8: 119,626,322	P283Q	probably benign	Het
Lzts3	A	G	2: 130,637,957		probably benign	Het
March7	T	C	2: 60,236,918	I594T	probably damaging	Het
Matn2	A	T	15: 34,355,655	I269F	probably damaging	Het
Matn4	A	G	2: 164,389,837	F591S	probably damaging	Het
Mknk1	C	T	4: 115,857,091	R20C	probably damaging	Het
Mrgbp	T	C	2: 180,584,479	V115A	probably damaging	Het
Mrgprb8	C	T	7: 48,388,625	Q15*	probably null	Het
Naa38	T	C	11: 69,395,917	L9P	probably damaging	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Olfr131	T	A	17: 38,082,223	M252L	probably benign	Het
Olfr1501	G	A	19: 13,838,924	T83I	probably benign	Het
Olfr525	T	A	7: 140,322,741	L14Q	probably damaging	Het
Pkd1	A	G	17: 24,575,189	N1950S	probably damaging	Het
Plagl2	A	G	2: 153,232,279	L234P	probably damaging	Het
Psmb11	C	T	14: 54,625,651	R109W	probably damaging	Het
Rcc1	C	T	4: 132,337,756	R139H	probably benign	Het
Rsbn1	A	G	3: 103,962,352	T710A	probably benign	Het
Slitrk4	A	G	X: 64,271,327	I578T	possibly damaging	Het
Srgap1	T	C	10: 121,855,462	Y289C	probably damaging	Het
Stxbp2	A	G	8: 3,642,685	D579G	possibly damaging	Het
Tg	T	C	15: 66,678,093	Y235H	probably damaging	Het
Thbs3	A	G	3: 89,220,207	N385S	probably damaging	Het
Trmo	A	G	4: 46,387,602	S80P	probably damaging	Het
Ubc	T	C	5: 125,386,137	K709E	probably benign	Het
Vstm4	C	T	14: 32,937,788	P296S	probably damaging	Het
Wdr11	G	A	7: 129,607,098		probably null	Het
Wdr19	T	C	5: 65,252,378	I1153T	possibly damaging	Het
Xpo6	T	C	7: 126,156,729	E213G	possibly damaging	Het
Zxdc	A	C	6: 90,372,562	T311P	probably damaging	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
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
R3771:Lrrn3	UTSW	12	41452870	missense	probably damaging	1.00
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

Posted On

2015-12-18