Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02999:Lrrn3'

407232

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 #

IGL02999

Quality Score

Status

Chromosome

Chromosomal Location

41451668-41486431 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41452751 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 522 (N522K)

Ref Sequence

ENSEMBL: ENSMUSP00000043818 (fasta)

Gene Model

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

AlphaFold

Q8CBC6

Predicted Effect

probably benign
Transcript: ENSMUST00000043884
AA Change: N522K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: N522K

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 79,067,590	R297S	possibly damaging	Het
Abca13	G	A	11: 9,581,757		probably benign	Het
Acot12	T	A	13: 91,759,981	V94D	probably damaging	Het
Adgrv1	C	T	13: 81,578,854	A460T	probably benign	Het
Atp8a2	C	A	14: 59,925,122	E717*	probably null	Het
Brinp3	A	T	1: 146,701,849		probably null	Het
Camk1d	C	A	2: 5,354,705	V177L	probably benign	Het
Chst11	A	G	10: 83,191,704	I322V	possibly damaging	Het
Cobl	T	C	11: 12,343,869	T296A	possibly damaging	Het
Dcc	A	C	18: 71,378,678	F869V	possibly damaging	Het
Dock2	G	T	11: 34,692,259	T609K	probably damaging	Het
Ercc5	A	G	1: 44,167,654	T576A	probably benign	Het
Faf1	A	G	4: 109,861,893	I399V	probably benign	Het
Fndc3b	T	G	3: 27,538,239	E170A	probably damaging	Het
Ggt7	C	A	2: 155,502,713	V237L	probably benign	Het
Gm14085	T	C	2: 122,514,514		probably benign	Het
Hectd1	G	T	12: 51,827,422	Q24K	possibly damaging	Het
Krt19	T	C	11: 100,141,409		probably benign	Het
Lilrb4a	T	C	10: 51,494,143	L259P	probably damaging	Het
Limd1	T	C	9: 123,516,799	Y548H	probably damaging	Het
Lingo2	A	G	4: 35,708,744	I412T	probably damaging	Het
Lrrc34	T	A	3: 30,634,633	Q173L	probably damaging	Het
Mgat4e	A	C	1: 134,541,190	L372R	probably damaging	Het
Nedd4l	A	G	18: 65,198,707	D638G	probably damaging	Het
Olfm3	T	C	3: 115,122,748	M423T	probably damaging	Het
Olfr969	T	C	9: 39,795,456	L27P	probably damaging	Het
Pcsk7	T	A	9: 45,927,599	I603N	possibly damaging	Het
Ptpn2	A	G	18: 67,681,510	V143A	probably damaging	Het
Rabgap1	C	A	2: 37,483,826	D283E	possibly damaging	Het
Reln	G	A	5: 21,995,365	S1379F	probably damaging	Het
Rpap2	T	A	5: 107,601,831	F74I	possibly damaging	Het
Sel1l2	T	C	2: 140,230,804	E637G	probably damaging	Het
St18	T	A	1: 6,817,605	V466E	probably benign	Het
Stac	C	A	9: 111,604,130	G207C	probably damaging	Het
Stra6	T	A	9: 58,135,113	N8K	probably benign	Het
Sytl4	C	T	X: 133,937,978	R649Q	probably benign	Het
Tas1r3	A	G	4: 155,862,359	V263A	probably damaging	Het
Tprg	T	C	16: 25,317,468	Y70H	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
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
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

2016-08-02