Mutagenetix > Incidental Mutation

Incidental Mutation 'R0454:Lrrc8c'

39855

Institutional Source

Beutler Lab

Gene Symbol

Lrrc8c

Ensembl Gene

ENSMUSG00000054720

Gene Name

leucine rich repeat containing 8 family, member C

Synonyms

E430036I04Rik

MMRRC Submission

038654-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0454 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105667254-105760884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 105754965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 247 (K247Q)

Ref Sequence

ENSEMBL: ENSMUSP00000066015 (fasta)

Gene Model

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

AlphaFold

Q8R502

Predicted Effect

probably damaging
Transcript: ENSMUST00000067924
AA Change: K247Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066015
Gene: ENSMUSG00000054720
AA Change: K247Q

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 benign
Transcript: ENSMUST00000153754

SMART Domains

Protein: ENSMUSP00000114899
Gene: ENSMUSG00000054720

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447F04Rik	T	C	X: 65,347,274 (GRCm39)	E91G	unknown	Het
Acot1	A	G	12: 84,064,113 (GRCm39)	Q407R	probably benign	Het
Adcy10	T	A	1: 165,398,297 (GRCm39)	Y1465N	probably damaging	Het
Ahsa2	T	A	11: 23,440,702 (GRCm39)	I249F	probably damaging	Het
Arhgap10	T	C	8: 77,977,594 (GRCm39)	N721S	probably damaging	Het
Arrdc4	T	G	7: 68,391,619 (GRCm39)	E216A	probably damaging	Het
Axin1	T	C	17: 26,392,637 (GRCm39)	V306A	probably benign	Het
Cct3	T	C	3: 88,210,173 (GRCm39)		probably null	Het
Cfap58	G	A	19: 47,963,119 (GRCm39)		probably null	Het
Chd9	T	C	8: 91,699,859 (GRCm39)	S49P	possibly damaging	Het
Clcn2	C	A	16: 20,529,178 (GRCm39)		probably null	Het
Col26a1	T	C	5: 136,783,047 (GRCm39)	N286D	probably benign	Het
Cpt1b	T	A	15: 89,308,596 (GRCm39)	I111F	possibly damaging	Het
Cyp4f16	T	A	17: 32,756,061 (GRCm39)	I30N	probably damaging	Het
Ddc	T	G	11: 11,830,587 (GRCm39)	D19A	possibly damaging	Het
Depdc1a	T	A	3: 159,222,537 (GRCm39)		probably null	Het
Evc2	T	A	5: 37,574,828 (GRCm39)	C1028S	possibly damaging	Het
Fam228a	T	C	12: 4,781,457 (GRCm39)	E134G	probably damaging	Het
Fasl	T	C	1: 161,615,523 (GRCm39)	E111G	probably benign	Het
Fbxw10	A	G	11: 62,767,564 (GRCm39)	N800S	possibly damaging	Het
Fras1	T	C	5: 96,910,524 (GRCm39)	S3318P	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gad1	T	A	2: 70,409,545 (GRCm39)	M212K	probably damaging	Het
Gm17455	T	G	10: 60,238,752 (GRCm39)	S6A	probably benign	Het
Grm5	T	C	7: 87,779,997 (GRCm39)	S1146P	probably damaging	Het
Gsn	T	C	2: 35,194,651 (GRCm39)	L649P	probably damaging	Het
H2-DMb1	A	G	17: 34,374,685 (GRCm39)	T112A	probably benign	Het
Hcn3	T	A	3: 89,060,201 (GRCm39)	I148F	probably damaging	Het
Hdac10	T	C	15: 89,009,961 (GRCm39)		probably null	Het
Hk3	C	A	13: 55,156,518 (GRCm39)	D619Y	probably damaging	Het
Ifi44	T	A	3: 151,451,134 (GRCm39)	R272S	possibly damaging	Het
Il1rap	A	C	16: 26,517,625 (GRCm39)	D275A	probably damaging	Het
Irag2	A	G	6: 145,113,710 (GRCm39)	R293G	possibly damaging	Het
Itgam	A	T	7: 127,707,152 (GRCm39)	N660I	probably benign	Het
Itpr3	T	C	17: 27,332,793 (GRCm39)	M1853T	probably benign	Het
Map3k21	T	C	8: 126,668,858 (GRCm39)	S815P	probably benign	Het
Mast4	A	G	13: 102,888,068 (GRCm39)	S1114P	probably damaging	Het
Myh8	C	T	11: 67,194,591 (GRCm39)	Q1601*	probably null	Het
Nhlrc2	A	G	19: 56,558,959 (GRCm39)	D148G	probably damaging	Het
Nos1	T	A	5: 118,081,385 (GRCm39)	S1196T	probably benign	Het
Nsmaf	C	T	4: 6,424,874 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,890,449 (GRCm39)	D7361G	unknown	Het
Or2t35	T	C	14: 14,407,777 (GRCm38)	V183A	probably damaging	Het
Or52ad1	C	A	7: 102,996,085 (GRCm39)	A17S	probably benign	Het
Or5bw2	C	T	7: 6,573,359 (GRCm39)	A123V	probably damaging	Het
Pank3	T	G	11: 35,668,536 (GRCm39)	M175R	probably benign	Het
Papolg	A	G	11: 23,829,868 (GRCm39)		probably null	Het
Pcdhb21	G	A	18: 37,647,566 (GRCm39)	D232N	probably damaging	Het
Pcdhb22	T	C	18: 37,651,925 (GRCm39)	F131S	probably damaging	Het
Pik3r6	G	A	11: 68,419,608 (GRCm39)	A140T	possibly damaging	Het
Pinlyp	T	C	7: 24,241,947 (GRCm39)	T87A	possibly damaging	Het
Pld1	T	C	3: 28,178,724 (GRCm39)	S873P	probably damaging	Het
Pld5	T	A	1: 176,102,295 (GRCm39)	Y49F	probably benign	Het
Polq	T	C	16: 36,855,252 (GRCm39)	V449A	probably damaging	Het
Prkca	A	G	11: 107,869,106 (GRCm39)	V69A	probably benign	Het
Ptk6	A	G	2: 180,844,075 (GRCm39)	S75P	possibly damaging	Het
Ptprq	G	A	10: 107,418,391 (GRCm39)	Q1662*	probably null	Het
Ptprt	C	A	2: 161,395,742 (GRCm39)	A1144S	probably damaging	Het
Rrm1	T	A	7: 102,116,133 (GRCm39)	W684R	probably damaging	Het
Ryr1	T	A	7: 28,735,500 (GRCm39)	M4093L	probably damaging	Het
Scnn1a	C	T	6: 125,299,189 (GRCm39)	L90F	probably damaging	Het
Slc25a19	G	T	11: 115,508,423 (GRCm39)	Y188*	probably null	Het
Slc31a1	C	T	4: 62,303,866 (GRCm39)		probably benign	Het
Slc5a11	C	G	7: 122,864,458 (GRCm39)	S351R	possibly damaging	Het
Slc6a17	A	G	3: 107,384,183 (GRCm39)	L387P	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Spam1	T	A	6: 24,797,837 (GRCm39)	L331Q	probably damaging	Het
Spata32	A	G	11: 103,100,125 (GRCm39)	W127R	probably damaging	Het
Spring1	A	G	5: 118,393,886 (GRCm39)	E88G	possibly damaging	Het
Spta1	T	G	1: 174,041,508 (GRCm39)	I1324S	probably damaging	Het
St6galnac4	A	G	2: 32,484,330 (GRCm39)	Y176C	probably damaging	Het
Stk10	A	G	11: 32,546,724 (GRCm39)	E327G	probably damaging	Het
Stxbp5l	T	A	16: 36,954,646 (GRCm39)	Y912F	possibly damaging	Het
Tchp	G	A	5: 114,858,243 (GRCm39)	E459K	probably benign	Het
Terf2	C	T	8: 107,822,842 (GRCm39)	W100*	probably null	Het
Thoc2l	T	G	5: 104,666,077 (GRCm39)	S200A	probably benign	Het
Thrsp	T	C	7: 97,066,634 (GRCm39)	N26S	probably damaging	Het
Tln1	C	A	4: 43,553,504 (GRCm39)	R297L	probably benign	Het
Tmeff2	C	A	1: 50,967,234 (GRCm39)	T43N	possibly damaging	Het
Tmx1	C	T	12: 70,499,947 (GRCm39)	A2V	possibly damaging	Het
Tnks1bp1	T	A	2: 84,902,481 (GRCm39)	L1053Q	probably damaging	Het
Trmt10b	A	T	4: 45,304,286 (GRCm39)	K107N	probably damaging	Het
Trpa1	A	T	1: 14,955,972 (GRCm39)		probably null	Het
Trrap	A	G	5: 144,783,287 (GRCm39)	K3371R	probably damaging	Het
Tuba3b	G	A	6: 145,563,995 (GRCm39)	V14I	probably benign	Het
Usp19	T	C	9: 108,371,439 (GRCm39)		probably null	Het
Usp28	C	A	9: 48,950,401 (GRCm39)	D615E	possibly damaging	Het
Utp20	T	C	10: 88,657,931 (GRCm39)	D43G	probably benign	Het
Vmn1r58	T	G	7: 5,413,997 (GRCm39)	K78Q	possibly damaging	Het
Vmn2r10	T	C	5: 109,151,327 (GRCm39)	M96V	probably benign	Het
Wdr90	T	C	17: 26,079,023 (GRCm39)	E273G	probably damaging	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het
Zscan21	T	C	5: 138,131,865 (GRCm39)	I463T	possibly damaging	Het

Other mutations in Lrrc8c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Lrrc8c	APN	5	105,755,076 (GRCm39)	missense	probably damaging	0.99
IGL00736:Lrrc8c	APN	5	105,754,980 (GRCm39)	missense	probably damaging	1.00
IGL00822:Lrrc8c	APN	5	105,756,174 (GRCm39)	missense	probably benign	0.04
IGL02009:Lrrc8c	APN	5	105,755,257 (GRCm39)	missense	probably damaging	1.00
IGL02156:Lrrc8c	APN	5	105,755,359 (GRCm39)	missense	probably damaging	1.00
IGL02266:Lrrc8c	APN	5	105,756,114 (GRCm39)	missense	probably benign	0.30
IGL02268:Lrrc8c	APN	5	105,755,764 (GRCm39)	missense	probably damaging	1.00
IGL02487:Lrrc8c	APN	5	105,754,457 (GRCm39)	missense	probably benign
IGL02536:Lrrc8c	APN	5	105,755,038 (GRCm39)	missense	probably benign	0.00
IGL02672:Lrrc8c	APN	5	105,755,224 (GRCm39)	missense	possibly damaging	0.85
IGL02860:Lrrc8c	APN	5	105,727,481 (GRCm39)	splice site	probably benign
IGL03395:Lrrc8c	APN	5	105,754,495 (GRCm39)	missense	probably benign
Hand_grenade	UTSW	5	105,754,954 (GRCm39)	missense	probably damaging	1.00
Horseshoe	UTSW	5	105,755,488 (GRCm39)	missense	probably damaging	1.00
P0014:Lrrc8c	UTSW	5	105,755,110 (GRCm39)	missense	probably benign	0.06
PIT4504001:Lrrc8c	UTSW	5	105,756,403 (GRCm39)	missense	probably benign
PIT4651001:Lrrc8c	UTSW	5	105,756,189 (GRCm39)	missense	probably benign	0.04
R0196:Lrrc8c	UTSW	5	105,754,636 (GRCm39)	missense	probably benign	0.18
R0565:Lrrc8c	UTSW	5	105,754,894 (GRCm39)	missense	probably damaging	0.98
R0673:Lrrc8c	UTSW	5	105,755,544 (GRCm39)	missense	probably damaging	0.99
R0722:Lrrc8c	UTSW	5	105,727,414 (GRCm39)	missense	probably damaging	1.00
R0815:Lrrc8c	UTSW	5	105,756,400 (GRCm39)	missense	probably damaging	1.00
R1177:Lrrc8c	UTSW	5	105,754,702 (GRCm39)	missense	probably benign	0.40
R1411:Lrrc8c	UTSW	5	105,756,045 (GRCm39)	missense	probably damaging	0.96
R1486:Lrrc8c	UTSW	5	105,755,395 (GRCm39)	missense	probably damaging	1.00
R1551:Lrrc8c	UTSW	5	105,756,090 (GRCm39)	missense	probably damaging	1.00
R1662:Lrrc8c	UTSW	5	105,754,623 (GRCm39)	missense	probably benign	0.22
R1714:Lrrc8c	UTSW	5	105,755,157 (GRCm39)	missense	possibly damaging	0.93
R1770:Lrrc8c	UTSW	5	105,754,603 (GRCm39)	missense	probably damaging	1.00
R2104:Lrrc8c	UTSW	5	105,755,224 (GRCm39)	missense	possibly damaging	0.85
R2139:Lrrc8c	UTSW	5	105,754,558 (GRCm39)	missense	probably damaging	1.00
R4425:Lrrc8c	UTSW	5	105,755,755 (GRCm39)	missense	probably benign	0.22
R4670:Lrrc8c	UTSW	5	105,756,240 (GRCm39)	missense	probably benign
R4897:Lrrc8c	UTSW	5	105,755,955 (GRCm39)	missense	probably benign	0.01
R4968:Lrrc8c	UTSW	5	105,754,993 (GRCm39)	missense	probably damaging	1.00
R5114:Lrrc8c	UTSW	5	105,755,349 (GRCm39)	missense	probably damaging	1.00
R5580:Lrrc8c	UTSW	5	105,755,553 (GRCm39)	missense	probably benign	0.00
R5804:Lrrc8c	UTSW	5	105,727,423 (GRCm39)	missense	possibly damaging	0.88
R5918:Lrrc8c	UTSW	5	105,756,117 (GRCm39)	missense	possibly damaging	0.68
R6293:Lrrc8c	UTSW	5	105,754,612 (GRCm39)	missense	probably damaging	1.00
R6303:Lrrc8c	UTSW	5	105,756,475 (GRCm39)	missense	probably benign	0.31
R6304:Lrrc8c	UTSW	5	105,756,475 (GRCm39)	missense	probably benign	0.31
R7271:Lrrc8c	UTSW	5	105,755,853 (GRCm39)	missense	probably benign	0.02
R7341:Lrrc8c	UTSW	5	105,755,133 (GRCm39)	missense	probably damaging	1.00
R7380:Lrrc8c	UTSW	5	105,755,701 (GRCm39)	missense	possibly damaging	0.71
R7630:Lrrc8c	UTSW	5	105,755,568 (GRCm39)	missense	probably damaging	0.99
R7789:Lrrc8c	UTSW	5	105,755,066 (GRCm39)	missense	probably damaging	1.00
R8128:Lrrc8c	UTSW	5	105,755,488 (GRCm39)	missense	probably damaging	1.00
R8229:Lrrc8c	UTSW	5	105,754,402 (GRCm39)	missense	probably benign	0.00
R8247:Lrrc8c	UTSW	5	105,756,310 (GRCm39)	missense	probably damaging	1.00
R8248:Lrrc8c	UTSW	5	105,755,733 (GRCm39)	missense	probably benign
R8890:Lrrc8c	UTSW	5	105,754,954 (GRCm39)	missense	probably damaging	1.00
R9254:Lrrc8c	UTSW	5	105,756,356 (GRCm39)	nonsense	probably null
R9379:Lrrc8c	UTSW	5	105,756,356 (GRCm39)	nonsense	probably null
R9416:Lrrc8c	UTSW	5	105,756,163 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGCAACTTCTGGTTCAAATTCCCCG -3'
(R):5'- GTGTAAAGGCACGTCAGGCCATAG -3'

Sequencing Primer
(F):5'- ATAGAACATTTCATCTCCATCCTGG -3'
(R):5'- CGTCAGGCCATAGATGCTTAC -3'

Posted On

2013-05-23