Mutagenetix > Incidental Mutations

Incidental Mutation 'R6293:Lrrc8c'

508546

Institutional Source

Beutler Lab

Gene Symbol

Lrrc8c

Ensembl Gene

ENSMUSG00000054720

Gene Name

leucine rich repeat containing 8 family, member C

Synonyms

E430036I04Rik

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_133897.2; MGI:2140839

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105519388-105613018 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105606746 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 129 (Y129C)

Ref Sequence

ENSEMBL: ENSMUSP00000114899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067924] [ENSMUST00000153754]

Predicted Effect

probably damaging
Transcript: ENSMUST00000067924
AA Change: Y129C

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

SMART Domains

Protein: ENSMUSP00000066015
Gene: ENSMUSG00000054720
AA Change: Y129C

Domain	Start	End	E-Value	Type
Pfam:Pannexin_like	1	338	5.7e-152	PFAM
low complexity region	398	407	N/A	INTRINSIC
LRR	588	611	3.97e0	SMART
LRR	613	635	1.81e2	SMART
LRR	636	658	2.2e1	SMART
LRR_TYP	659	682	1.45e-2	SMART
LRR	684	703	3.56e2	SMART
LRR	705	728	2.92e1	SMART
LRR	751	774	1.09e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000153754
AA Change: Y129C

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

SMART Domains

Protein: ENSMUSP00000114899
Gene: ENSMUSG00000054720
AA Change: Y129C

Domain	Start	End	E-Value	Type
Pfam:DUF3733	1	65	4.8e-35	PFAM
low complexity region	78	93	N/A	INTRINSIC
Pfam:DUF3733	99	158	1.7e-26	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

98% (54/55)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in body weight, white adipose tissue weight, and insulin resistance on a high-fat diet, indicating protection from diet-induced obesity and insulin resistance. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,141,746	D323G	probably damaging	Het
Abcb1b	T	C	5: 8,853,493	I1048T	probably benign	Het
Adgra3	G	A	5: 49,960,847	P1120S	probably benign	Het
Alkbh8	G	T	9: 3,347,841	L211F	possibly damaging	Het
Ankrd27	T	C	7: 35,608,460	S375P	possibly damaging	Het
Apoc1	T	A	7: 19,691,892	T68S	probably damaging	Het
Arfgef2	T	A	2: 166,873,588	Y1318N	possibly damaging	Het
Camsap2	C	A	1: 136,287,920	R345L	probably damaging	Het
Ccdc38	C	T	10: 93,562,797	Q46*	probably null	Het
Cdk12	T	A	11: 98,224,553	M840K	unknown	Het
Col12a1	A	T	9: 79,614,358	N2772K	probably benign	Het
Dthd1	A	G	5: 62,842,850	D505G	probably damaging	Het
Elf1	C	T	14: 79,560,786	H38Y	probably damaging	Het
Gcnt2	T	A	13: 40,918,697	V272D	probably damaging	Het
Gm9964	T	A	11: 79,296,594	K9M	unknown	Het
Gpr155	A	G	2: 73,373,997	S158P	possibly damaging	Het
Haus5	C	T	7: 30,658,976	W298*	probably null	Het
Hmcn2	T	C	2: 31,335,451	I124T	probably damaging	Het
Hydin	A	G	8: 110,597,911	S4635G	possibly damaging	Het
Lrch2	C	T	X: 147,480,557	A369T	probably damaging	Homo
Mbtd1	C	T	11: 93,932,232	H493Y	possibly damaging	Het
Mcm3ap	C	G	10: 76,471,478	Y418*	probably null	Het
Mpdz	A	G	4: 81,360,056	L764P	probably damaging	Het
Myt1l	A	G	12: 29,827,628	D426G	unknown	Het
Ndel1	C	T	11: 68,836,275	R192H	probably damaging	Het
Nudt21	T	C	8: 94,028,878	D134G	probably damaging	Het
Nup210l	A	T	3: 90,115,064	H113L	probably damaging	Het
Nxf1	A	G	19: 8,769,182	K586E	probably damaging	Het
Olfr1191-ps1	A	G	2: 88,643,280	E171G	possibly damaging	Het
Olfr697	T	C	7: 106,741,406	H176R	probably damaging	Het
Osbpl8	A	G	10: 111,272,238	Y365C	possibly damaging	Het
Pkd2l2	A	G	18: 34,427,444	Y368C	probably damaging	Het
Pkn2	A	G	3: 142,809,704	F649L	probably benign	Het
Pla2g4a	T	C	1: 149,880,047	Y205C	probably damaging	Het
Prex2	A	G	1: 11,162,298	N863S	probably benign	Het
Prkdc	A	G	16: 15,787,155	K2979R	probably benign	Het
Ptk6	T	C	2: 181,198,460	Y251C	probably damaging	Het
Rapgef6	T	A	11: 54,634,781	W334R	probably damaging	Het
Rbm11	A	T	16: 75,596,767		probably null	Het
Rhbdl1	A	G	17: 25,834,969	L309P	probably damaging	Het
Rhbg	G	A	3: 88,245,826	R274*	probably null	Het
Rpp30	A	G	19: 36,104,445	*269W	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Homo
Slc44a1	A	G	4: 53,561,099	K605R	probably damaging	Het
Slco2a1	A	G	9: 103,050,147	S80G	probably benign	Het
Tmem50b	A	T	16: 91,583,276	M71K	probably damaging	Het
Ttn	G	A	2: 76,749,329	T23740M	probably damaging	Het
Tyro3	A	G	2: 119,808,000	T303A	possibly damaging	Het
Uba3	A	T	6: 97,196,908	D105E	probably damaging	Het
Vmn1r21	T	C	6: 57,844,270	D63G	probably benign	Het
Vstm2b	T	A	7: 40,900,109	I63N	probably damaging	Het
Wdr66	A	C	5: 123,322,448	N1158H	probably damaging	Het
Ylpm1	C	G	12: 85,015,277	P651A	unknown	Het
Zscan22	T	A	7: 12,906,907	C359*	probably null	Het

Other mutations in Lrrc8c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Lrrc8c	APN	5	105607210	missense	probably damaging	0.99
IGL00736:Lrrc8c	APN	5	105607114	missense	probably damaging	1.00
IGL00822:Lrrc8c	APN	5	105608308	missense	probably benign	0.04
IGL02009:Lrrc8c	APN	5	105607391	missense	probably damaging	1.00
IGL02156:Lrrc8c	APN	5	105607493	missense	probably damaging	1.00
IGL02266:Lrrc8c	APN	5	105608248	missense	probably benign	0.30
IGL02268:Lrrc8c	APN	5	105607898	missense	probably damaging	1.00
IGL02487:Lrrc8c	APN	5	105606591	missense	probably benign
IGL02536:Lrrc8c	APN	5	105607172	missense	probably benign	0.00
IGL02672:Lrrc8c	APN	5	105607358	missense	possibly damaging	0.85
IGL02860:Lrrc8c	APN	5	105579615	splice site	probably benign
IGL03395:Lrrc8c	APN	5	105606629	missense	probably benign
P0014:Lrrc8c	UTSW	5	105607244	missense	probably benign	0.06
PIT4504001:Lrrc8c	UTSW	5	105608537	missense	probably benign
PIT4651001:Lrrc8c	UTSW	5	105608323	missense	probably benign	0.04
R0196:Lrrc8c	UTSW	5	105606770	missense	probably benign	0.18
R0454:Lrrc8c	UTSW	5	105607099	missense	probably damaging	1.00
R0565:Lrrc8c	UTSW	5	105607028	missense	probably damaging	0.98
R0673:Lrrc8c	UTSW	5	105607678	missense	probably damaging	0.99
R0722:Lrrc8c	UTSW	5	105579548	missense	probably damaging	1.00
R0815:Lrrc8c	UTSW	5	105608534	missense	probably damaging	1.00
R1177:Lrrc8c	UTSW	5	105606836	missense	probably benign	0.40
R1411:Lrrc8c	UTSW	5	105608179	missense	probably damaging	0.96
R1486:Lrrc8c	UTSW	5	105607529	missense	probably damaging	1.00
R1551:Lrrc8c	UTSW	5	105608224	missense	probably damaging	1.00
R1662:Lrrc8c	UTSW	5	105606757	missense	probably benign	0.22
R1714:Lrrc8c	UTSW	5	105607291	missense	possibly damaging	0.93
R1770:Lrrc8c	UTSW	5	105606737	missense	probably damaging	1.00
R2104:Lrrc8c	UTSW	5	105607358	missense	possibly damaging	0.85
R2139:Lrrc8c	UTSW	5	105606692	missense	probably damaging	1.00
R4425:Lrrc8c	UTSW	5	105607889	missense	probably benign	0.22
R4670:Lrrc8c	UTSW	5	105608374	missense	probably benign
R4897:Lrrc8c	UTSW	5	105608089	missense	probably benign	0.01
R4968:Lrrc8c	UTSW	5	105607127	missense	probably damaging	1.00
R5114:Lrrc8c	UTSW	5	105607483	missense	probably damaging	1.00
R5580:Lrrc8c	UTSW	5	105607687	missense	probably benign	0.00
R5804:Lrrc8c	UTSW	5	105579557	missense	possibly damaging	0.88
R5918:Lrrc8c	UTSW	5	105608251	missense	possibly damaging	0.68
R6303:Lrrc8c	UTSW	5	105608609	missense	probably benign	0.31
R6304:Lrrc8c	UTSW	5	105608609	missense	probably benign	0.31
R7271:Lrrc8c	UTSW	5	105607987	missense	probably benign	0.02
R7341:Lrrc8c	UTSW	5	105607267	missense	probably damaging	1.00
R7380:Lrrc8c	UTSW	5	105607835	missense	possibly damaging	0.71
R7630:Lrrc8c	UTSW	5	105607702	missense	probably damaging	0.99
R7789:Lrrc8c	UTSW	5	105607200	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAAGAGTGCAGCCTGCTCAG -3'
(R):5'- TGCCGGACCTGTTCATGTTG -3'

Sequencing Primer
(F):5'- TCCCAATGTCTCCCAGGCAG -3'
(R):5'- TCTGTTGTCCTTCTCTTCGGAG -3'

Posted On

2018-03-15