Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02995:Lrrn3'

407098

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 #

IGL02995

Quality Score

Status

Chromosome

Chromosomal Location

41451668-41486431 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41452217 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 700 (I700M)

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: I700M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: I700M

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,163,288	V175A	probably benign	Het
Adam19	G	A	11: 46,136,349	R603Q	probably benign	Het
Adam25	T	C	8: 40,753,723	S9P	probably benign	Het
Akr1e1	T	A	13: 4,597,478		probably benign	Het
Ano8	C	T	8: 71,483,117	V286I	possibly damaging	Het
Baz1a	C	T	12: 54,900,447	R1139H	probably damaging	Het
Brca2	T	A	5: 150,529,488	L29H	probably damaging	Het
Btaf1	T	C	19: 36,981,135		probably benign	Het
C8b	T	A	4: 104,801,328		probably benign	Het
Cep295	A	T	9: 15,333,312	S1283T	probably damaging	Het
Cyp1a2	T	C	9: 57,677,228	*514W	probably null	Het
D2hgdh	G	T	1: 93,829,836	D158Y	probably damaging	Het
Dennd1b	G	A	1: 139,081,242	V228M	probably damaging	Het
Fgd6	T	A	10: 94,045,480	L732*	probably null	Het
Gm21969	G	A	4: 139,607,698	G348S	probably benign	Het
Gprc6a	C	T	10: 51,626,799	V323M	probably damaging	Het
Gzme	T	A	14: 56,118,709	M111L	probably damaging	Het
Iars2	G	T	1: 185,303,301	Q581K	probably benign	Het
Klra17	A	T	6: 129,868,684		probably null	Het
Klra5	A	T	6: 129,906,614	D93E	possibly damaging	Het
Lats2	T	C	14: 57,700,348	Y228C	probably damaging	Het
Ltb	A	T	17: 35,195,372		probably benign	Het
Myo18b	T	C	5: 112,775,413		probably benign	Het
Olfr103	A	T	17: 37,336,709	H174Q	probably damaging	Het
Olfr323	A	G	11: 58,625,281	M255T	possibly damaging	Het
Olfr346	C	T	2: 36,688,632	P210L	possibly damaging	Het
Olfr395	G	A	11: 73,907,219	T91M	possibly damaging	Het
Olfr518	T	A	7: 108,880,991	E205V	probably damaging	Het
Pgap1	A	C	1: 54,493,350	I670S	probably benign	Het
Plxna4	A	T	6: 32,516,595	I362N	probably damaging	Het
Ppef2	C	T	5: 92,235,900	W450*	probably null	Het
Prr27	T	C	5: 87,842,816	S96P	probably benign	Het
Psip1	T	A	4: 83,463,717		probably benign	Het
Rgs3	T	A	4: 62,625,847	H285Q	possibly damaging	Het
Ror1	T	C	4: 100,334,525		probably benign	Het
Rps6ka5	C	A	12: 100,573,999		probably benign	Het
Sipa1l1	T	A	12: 82,357,331	Y533N	probably benign	Het
Snx6	T	C	12: 54,795,510		probably benign	Het
Tbc1d9	T	A	8: 83,269,059		probably null	Het
Tek	T	C	4: 94,739,640		probably benign	Het
Tor2a	T	A	2: 32,761,497	H241Q	possibly damaging	Het
Wnt5a	A	T	14: 28,522,914	I353F	probably benign	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
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

2016-08-02