Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03280:Lrrn3'

415555

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 #

IGL03280

Quality Score

Status

Chromosome

Chromosomal Location

41451668-41486431 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41454147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 57 (D57G)

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: D57G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: D57G

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb4	T	C	6: 5,423,416	S188P	probably benign	Het
Bbs5	A	G	2: 69,666,971		probably benign	Het
Ccdc36	T	C	9: 108,404,900	S530G	possibly damaging	Het
Cdh13	G	T	8: 119,314,134	G693W	probably damaging	Het
Cdh7	T	A	1: 110,108,768	Y559*	probably null	Het
Cemip	G	A	7: 83,987,330		probably benign	Het
Crem	A	G	18: 3,273,415		probably benign	Het
Crygf	A	G	1: 65,928,170	Y151C	probably damaging	Het
Dcp1b	T	C	6: 119,180,058		probably benign	Het
Fanca	A	G	8: 123,316,459		probably benign	Het
Fkbp15	A	C	4: 62,303,267		probably benign	Het
Gabrp	C	T	11: 33,552,616	R416Q	probably benign	Het
Gm13103	A	T	4: 143,851,919	T250S	possibly damaging	Het
Impg2	T	A	16: 56,268,268	Y1052*	probably null	Het
Isg15	T	C	4: 156,199,862	M70V	probably benign	Het
Krit1	T	A	5: 3,811,248		probably benign	Het
Macrod1	A	G	19: 7,197,572	E309G	possibly damaging	Het
Notch1	A	T	2: 26,477,874		probably benign	Het
Nptx1	T	C	11: 119,544,729	T254A	probably damaging	Het
Olfr1121	A	T	2: 87,372,123	D197V	probably damaging	Het
Pigm	A	G	1: 172,376,853	Y52C	probably damaging	Het
Rif1	A	G	2: 52,112,599	T2022A	probably benign	Het
Rint1	T	A	5: 23,817,078	L646Q	probably damaging	Het
Rpe65	A	T	3: 159,604,341	I84F	probably damaging	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Scnn1a	T	C	6: 125,342,781		probably benign	Het
Selenop	T	C	15: 3,280,622		probably benign	Het
Siglecf	T	G	7: 43,355,930	V438G	probably benign	Het
St8sia4	T	A	1: 95,653,774		probably benign	Het
Tfeb	T	C	17: 47,785,937	F43S	probably benign	Het
Tgm6	A	G	2: 130,138,931	Y216C	probably damaging	Het
Try10	T	A	6: 41,354,220	V10E	probably benign	Het
Ttn	A	T	2: 76,898,467	C1234*	probably null	Het
Ugt2a3	G	A	5: 87,336,580	P195L	probably damaging	Het
Usp24	T	G	4: 106,380,430	I1095R	probably damaging	Het
Usp34	C	T	11: 23,354,897	H377Y	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
IGL02999:Lrrn3	APN	12	41452751	missense	probably benign	0.01
IGL03182:Lrrn3	APN	12	41454021	missense	probably damaging	1.00
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