Mutagenetix > Incidental Mutation

Incidental Mutation 'R1662:Lrrc8c'

186833

Institutional Source

Beutler Lab

Gene Symbol

Lrrc8c

Ensembl Gene

ENSMUSG00000054720

Gene Name

leucine rich repeat containing 8 family, member C

Synonyms

E430036I04Rik

MMRRC Submission

039698-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105667254-105760884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105754623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 133 (I133F)

Ref Sequence

ENSEMBL: ENSMUSP00000114899 (fasta)

Gene Model

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

AlphaFold

Q8R502

Predicted Effect

probably benign
Transcript: ENSMUST00000067924
AA Change: I133F

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066015
Gene: ENSMUSG00000054720
AA Change: I133F

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
AA Change: I133F

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114899
Gene: ENSMUSG00000054720
AA Change: I133F

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	T	A	4: 126,505,475 (GRCm39)	M1K	probably null	Het
5730507C01Rik	A	C	12: 18,581,967 (GRCm39)	R119S	possibly damaging	Het
Abca1	T	A	4: 53,090,251 (GRCm39)		probably null	Het
Aff1	G	A	5: 103,988,923 (GRCm39)	G830D	probably damaging	Het
AI987944	T	C	7: 41,023,873 (GRCm39)	T369A	possibly damaging	Het
Aoah	A	G	13: 21,184,283 (GRCm39)		probably null	Het
Arhgap40	C	G	2: 158,381,190 (GRCm39)	C349W	probably damaging	Het
Atic	T	A	1: 71,615,286 (GRCm39)	D438E	probably benign	Het
Barhl2	A	T	5: 106,601,365 (GRCm39)	M338K	probably benign	Het
Btd	T	C	14: 31,388,747 (GRCm39)	V156A	probably damaging	Het
Catspere2	A	G	1: 177,874,552 (GRCm39)	K140E	unknown	Het
Ccdc82	T	C	9: 13,262,397 (GRCm39)	V319A	probably damaging	Het
Celsr1	G	T	15: 85,915,263 (GRCm39)	N903K	probably damaging	Het
Cenpf	T	A	1: 189,389,968 (GRCm39)	N1288I	probably damaging	Het
Ciao1	G	A	2: 127,086,857 (GRCm39)	T252I	probably benign	Het
Cma2	T	C	14: 56,210,573 (GRCm39)	C87R	probably damaging	Het
Cops7a	T	A	6: 124,939,401 (GRCm39)	R83W	probably damaging	Het
Cxcr6	A	T	9: 123,639,613 (GRCm39)	M205L	possibly damaging	Het
Dcc	A	G	18: 71,553,409 (GRCm39)	L749P	probably benign	Het
Dync1i2	C	T	2: 71,081,323 (GRCm39)	T484I	possibly damaging	Het
Epas1	A	T	17: 87,136,455 (GRCm39)	K742N	probably damaging	Het
Evc2	A	G	5: 37,506,094 (GRCm39)	T138A	probably benign	Het
F5	T	C	1: 164,035,457 (GRCm39)	I1877T	probably damaging	Het
Fat1	T	G	8: 45,406,201 (GRCm39)	V984G	probably benign	Het
Fat4	T	A	3: 39,034,928 (GRCm39)	V2860D	probably damaging	Het
Foxn4	C	T	5: 114,394,955 (GRCm39)	R324Q	probably benign	Het
Gapdhs	C	T	7: 30,436,427 (GRCm39)	R120H	probably damaging	Het
Gcnt3	T	C	9: 69,941,659 (GRCm39)	D303G	probably benign	Het
Gng11	A	T	6: 4,008,066 (GRCm39)	Y43F	probably benign	Het
Hectd4	A	C	5: 121,455,308 (GRCm39)	M651L	probably benign	Het
Ifngr2	T	A	16: 91,357,484 (GRCm39)	Y200N	probably benign	Het
Iqgap3	T	C	3: 88,005,708 (GRCm39)	V512A	probably benign	Het
Kdm2a	A	C	19: 4,378,240 (GRCm39)	D187E	probably damaging	Het
Klhl8	A	G	5: 104,019,911 (GRCm39)	V370A	probably damaging	Het
Kmt2a	G	A	9: 44,747,967 (GRCm39)		probably benign	Het
Krt12	C	A	11: 99,311,650 (GRCm39)	V184F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1a	C	G	2: 121,136,889 (GRCm39)	S2568R	possibly damaging	Het
Mbnl1	C	A	3: 60,532,593 (GRCm39)	Q301K	probably damaging	Het
Med12l	A	T	3: 59,001,038 (GRCm39)	K724N	probably damaging	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Mybph	C	T	1: 134,121,374 (GRCm39)	P45S	probably benign	Het
Myo15a	T	A	11: 60,392,527 (GRCm39)	S2157T	probably damaging	Het
Or14j2	G	T	17: 37,886,164 (GRCm39)	T50K	probably damaging	Het
Or1ab2	T	C	8: 72,863,623 (GRCm39)	V71A	probably benign	Het
Or2t35	T	A	14: 14,407,880 (GRCm38)	Y217*	probably null	Het
Or5h25	T	C	16: 58,930,967 (GRCm39)	E2G	probably benign	Het
Otogl	A	G	10: 107,634,218 (GRCm39)	I1419T	possibly damaging	Het
Ovol1	A	T	19: 5,601,667 (GRCm39)	F118L	probably damaging	Het
Pak5	T	C	2: 135,958,680 (GRCm39)	D136G	probably damaging	Het
Pik3r2	T	C	8: 71,223,250 (GRCm39)	Y417C	probably damaging	Het
Ppp2r2a	T	C	14: 67,254,052 (GRCm39)	N372S	probably benign	Het
Prss30	G	T	17: 24,191,806 (GRCm39)	N238K	possibly damaging	Het
Prss33	C	A	17: 24,053,785 (GRCm39)		probably null	Het
Ptpn4	T	C	1: 119,692,788 (GRCm39)	E187G	probably damaging	Het
Ptprg	A	T	14: 12,207,357 (GRCm38)	N100I	probably damaging	Het
Rbpms2	T	C	9: 65,558,324 (GRCm39)	V130A	probably benign	Het
Rdh7	A	T	10: 127,724,481 (GRCm39)	M1K	probably null	Het
Rtp3	A	C	9: 110,815,751 (GRCm39)	S205A	probably benign	Het
Ryr3	G	T	2: 112,539,618 (GRCm39)	D3207E	probably damaging	Het
Scn9a	T	A	2: 66,313,803 (GRCm39)	T1972S	probably benign	Het
Scnn1b	T	C	7: 121,501,551 (GRCm39)	V122A	probably benign	Het
Slc15a4	A	G	5: 127,686,043 (GRCm39)	L213S	probably damaging	Het
Slc27a5	T	A	7: 12,725,173 (GRCm39)	I425F	probably damaging	Het
Spata31d1b	A	G	13: 59,864,442 (GRCm39)	D530G	probably benign	Het
Tcf25	T	A	8: 124,108,289 (GRCm39)	S115T	probably benign	Het
Tet2	A	G	3: 133,172,613 (GRCm39)	L1883P	possibly damaging	Het
Trim21	T	A	7: 102,211,105 (GRCm39)	R205*	probably null	Het
Ttc23	G	T	7: 67,375,069 (GRCm39)		probably null	Het
Tut7	T	C	13: 59,947,717 (GRCm39)	E466G	possibly damaging	Het
Unc13d	T	C	11: 115,959,499 (GRCm39)	K658R	probably null	Het
Vmn1r43	A	G	6: 89,846,572 (GRCm39)	F305L	possibly damaging	Het
Vmn2r2	A	T	3: 64,024,551 (GRCm39)	C677S	probably benign	Het
Wnt5a	T	C	14: 28,240,300 (GRCm39)	M150T	probably benign	Het
Ythdc1	G	A	5: 86,975,981 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,343,408 (GRCm39)	R596*	probably null	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
R0454:Lrrc8c	UTSW	5	105,754,965 (GRCm39)	missense	probably damaging	1.00
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
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'- AGTTATCAGTACCACTCCGCTGCC -3'
(R):5'- TGACTTGAGAGACTGGGACCTCAC -3'

Sequencing Primer
(F):5'- GCTGCCCCCACCTAAAC -3'
(R):5'- TCGGGACCAGACTGGATG -3'

Posted On

2014-05-09