Mutagenetix > Incidental Mutation

Incidental Mutation 'R7560:Lrrn3'

585056

Institutional Source

Beutler Lab

Gene Symbol

Lrrn3

Ensembl Gene

ENSMUSG00000036295

Gene Name

leucine rich repeat protein 3, neuronal

Synonyms

NLRR-3

MMRRC Submission

045626-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R7560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41451668-41486431 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41452713 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 535 (N535I)

Ref Sequence

ENSEMBL: ENSMUSP00000043818 (fasta)

Gene Model

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

AlphaFold

Q8CBC6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043884
AA Change: N535I

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: N535I

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (100/100)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,284,615	Y4187C	probably damaging	Het
Acot12	A	G	13: 91,784,391	D502G	probably benign	Het
Adrb1	T	C	19: 56,722,688	V106A	probably damaging	Het
Ahcyl2	G	T	6: 29,886,140	G352W	probably damaging	Het
Ahnak2	T	G	12: 112,779,674	D446A		Het
AI481877	T	C	4: 59,076,140	N601S	possibly damaging	Het
Arhgap42	T	C	9: 9,035,531	D270G	probably benign	Het
Atp2a1	A	G	7: 126,459,656	V129A	possibly damaging	Het
B9d2	G	A	7: 25,681,359		probably benign	Het
Bace1	A	T	9: 45,856,139	I207F	possibly damaging	Het
Blnk	T	A	19: 40,952,390	I190F	possibly damaging	Het
Bmp7	C	T	2: 172,939,964	E36K	possibly damaging	Het
Brsk2	A	G	7: 142,000,860	E654G	probably benign	Het
Cacna2d3	T	C	14: 29,058,421	H661R	probably benign	Het
Cdh4	T	C	2: 179,890,902	V719A	probably benign	Het
Cdkn2d	G	T	9: 21,289,244	P77H	probably damaging	Het
Chd3	A	G	11: 69,356,270	V1024A	probably damaging	Het
Chsy1	T	A	7: 66,171,244	M409K	possibly damaging	Het
Chsy1	T	C	7: 66,171,571	L518P	probably damaging	Het
Cic	G	A	7: 25,272,853	V670M	probably damaging	Het
Clock	A	T	5: 76,242,891		probably null	Het
Coro1a	C	A	7: 126,703,134	V14L	probably damaging	Het
Ctcfl	C	A	2: 173,118,406	C128F	probably damaging	Het
Cyb5b	A	G	8: 107,169,859	T71A	probably damaging	Het
Cyp2c40	C	G	19: 39,807,214	V174L	possibly damaging	Het
D630045J12Rik	T	A	6: 38,196,627	Q202L	possibly damaging	Het
Dgkz	T	C	2: 91,942,815		probably benign	Het
Dlgap2	T	C	8: 14,822,697		probably null	Het
Dnah1	T	C	14: 31,304,983	I695V	probably benign	Het
Dst	T	A	1: 34,182,451	S2445R	possibly damaging	Het
Elob	T	C	17: 23,824,976	D83G	probably benign	Het
Elp4	T	A	2: 105,794,588	D320V	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Etfdh	T	C	3: 79,623,579	Y45C	probably damaging	Het
Exph5	A	G	9: 53,375,773	I1385V	probably benign	Het
Fam104a	C	T	11: 113,663,389	G160D	probably damaging	Het
Fat3	A	T	9: 15,996,842	D2621E	probably damaging	Het
Fbxl6	G	T	15: 76,538,469	A83D	probably benign	Het
Fmo2	A	G	1: 162,888,749	Y90H	probably damaging	Het
Fzd4	T	A	7: 89,407,553	Y269*	probably null	Het
Grik5	T	A	7: 25,058,526	I377F	probably damaging	Het
Havcr2	C	A	11: 46,459,062	P137Q	probably damaging	Het
Hectd4	A	G	5: 121,254,342	N223S	possibly damaging	Het
Hmcn2	A	G	2: 31,457,173	S4792G	probably benign	Het
Hps3	T	G	3: 20,030,452	I191L	probably benign	Het
Ica1l	T	A	1: 60,010,210	K195*	probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 80,098,331		probably null	Het
Ift140	A	G	17: 25,092,341	D1170G	probably benign	Het
Igflr1	T	C	7: 30,567,351	F208S	possibly damaging	Het
Kcnma1	T	C	14: 23,530,242	T313A	probably benign	Het
Krt6a	T	A	15: 101,690,559	I524F	unknown	Het
Lce1d	G	T	3: 92,685,841	H88Q	unknown	Het
Lrmda	A	G	14: 22,828,702	E177G	probably benign	Het
Map2k4	T	A	11: 65,775,757	I40L	unknown	Het
Map7d1	A	G	4: 126,236,636	L459P	probably damaging	Het
Mipol1	A	T	12: 57,306,073	N66I	possibly damaging	Het
Mycn	A	C	12: 12,940,291	F35V	probably benign	Het
Mzt2	A	C	16: 15,862,805	M40R	possibly damaging	Het
N4bp2	T	G	5: 65,791,115	L363V	probably damaging	Het
Nfat5	T	A	8: 107,370,589	M1532K	probably benign	Het
Notch1	G	A	2: 26,460,165	T2321M	probably benign	Het
Nr1h4	T	C	10: 89,498,261	D89G	probably benign	Het
Nsun4	G	A	4: 116,051,494	T623I	possibly damaging	Het
Nup155	T	C	15: 8,155,047	S1309P	probably benign	Het
Olfr1100	T	C	2: 86,978,778	Y6C	probably benign	Het
Olfr1508	T	C	14: 52,463,394	N205S	probably damaging	Het
Olfr561	T	C	7: 102,781,682	S69P	probably damaging	Het
Pcsk5	A	G	19: 17,836,972	F61L	probably benign	Het
Phrf1	A	T	7: 141,231,225		probably null	Het
Pkd1	G	A	17: 24,573,631	E1431K	probably benign	Het
Pkd2	T	A	5: 104,480,353	I431N	probably damaging	Het
Plcb2	A	G	2: 118,715,643	L557P	probably damaging	Het
Poteg	A	G	8: 27,494,960	N449S	probably benign	Het
Ppargc1b	C	A	18: 61,312,210	G192W	probably damaging	Het
Rab13	T	C	3: 90,224,899	S178P	probably benign	Het
Ralgds	A	G	2: 28,547,595	D571G	probably damaging	Het
Ror2	A	G	13: 53,110,813	S748P	probably benign	Het
Sart1	A	T	19: 5,384,877	L167Q	probably damaging	Het
Sept12	A	G	16: 4,992,191	V160A	possibly damaging	Het
Sgo1	T	C	17: 53,679,267	S299G	probably benign	Het
Slc35b4	T	A	6: 34,163,361	D152V	probably benign	Het
Specc1	T	A	11: 62,128,409		probably null	Het
Synj1	G	A	16: 90,940,483	T1308I	probably benign	Het
Thap12	T	G	7: 98,710,231	L106V	probably damaging	Het
Togaram1	T	C	12: 65,011,142	M1501T	possibly damaging	Het
Top2a	G	T	11: 99,000,837	N1153K	probably benign	Het
Trpm5	A	G	7: 143,080,986	L658P	probably damaging	Het
Ttc21b	G	A	2: 66,217,204	A849V	possibly damaging	Het
Vmn1r80	A	T	7: 12,193,823	I287F	probably damaging	Het
Vmn1r87	T	C	7: 13,131,818	S181G	probably damaging	Het
Vmn2r71	A	T	7: 85,623,907	H643L	probably benign	Het
Washc5	G	A	15: 59,366,192	R228C	probably damaging	Het
Wdr72	T	C	9: 74,210,126	S719P	probably damaging	Het
Xrcc3	G	T	12: 111,807,902	D164E	probably benign	Het
Zc2hc1b	G	A	10: 13,168,785	R45C	probably damaging	Het
Zfp335	A	G	2: 164,895,992	Y900H	probably damaging	Het
Zfp512b	G	A	2: 181,587,082	R697C	probably damaging	Het
Zfp60	T	C	7: 27,749,136	Y410H	probably damaging	Het
Zfp60	T	A	7: 27,749,271	C455S	probably damaging	Het
Zfp605	C	T	5: 110,127,291	Q92*	probably null	Het
Zfp64	C	T	2: 168,925,665	D676N	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
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
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'- TTTCTGATAGACGGTGGGAATATC -3'
(R):5'- TCGCTTCACTGCAGAGCTAC -3'

Sequencing Primer
(F):5'- CTGATAGACGGTGGGAATATCAATAC -3'
(R):5'- GAAATCTACTGGATCACACCTTCTGG -3'

Posted On

2019-10-17