Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Lrrc8b'

657472

Institutional Source

Beutler Lab

Gene Symbol

Lrrc8b

Ensembl Gene

ENSMUSG00000070639

Gene Name

leucine rich repeat containing 8 family, member B

Synonyms

R75581

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105415775-105490074 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105485936 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 758 (N758S)

Ref Sequence

ENSEMBL: ENSMUSP00000108327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112707]

AlphaFold

Q5DU41

Predicted Effect

probably damaging
Transcript: ENSMUST00000112707
AA Change: N758S

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

SMART Domains

Protein: ENSMUSP00000108327
Gene: ENSMUSG00000070639
AA Change: N758S

Domain	Start	End	E-Value	Type
Pfam:Pannexin_like	1	334	2.9e-133	PFAM
LRR	509	536	5.27e1	SMART
LRR	584	607	2.03e1	SMART
LRR	632	654	1.97e1	SMART
LRR_TYP	655	678	4.79e-3	SMART
LRR	679	700	3.09e1	SMART
LRR_TYP	701	724	4.17e-3	SMART
LRR	747	770	2.17e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,187,458	P720Q	possibly damaging	Het
Acvr1b	G	A	15: 101,210,839	V499M	possibly damaging	Het
Adam5	G	A	8: 24,804,459	Q375*	probably null	Het
Adgrf1	G	A	17: 43,295,164	E60K	probably benign	Het
Alb	T	C	5: 90,462,771	V70A	probably damaging	Het
Aph1b	T	A	9: 66,788,427		probably benign	Het
Aste1	G	A	9: 105,396,990	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,397,796	T351S	probably damaging	Het
Bace2	T	A	16: 97,413,470	L286Q	probably damaging	Het
Bach1	G	A	16: 87,719,275	G235R	probably damaging	Het
Brwd1	A	T	16: 96,047,430	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,685,144		probably null	Het
Cdh22	T	A	2: 165,146,726	E236D	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902	T2029S	probably benign	Het
Col11a1	A	G	3: 114,181,394	D1234G	probably benign	Het
Cpt2	A	G	4: 107,907,760	I269T	probably damaging	Het
Dcaf7	T	A	11: 106,054,793	S323T	probably benign	Het
Ddias	G	T	7: 92,859,400	Q436K	probably benign	Het
Dlec1	G	A	9: 119,143,267		probably null	Het
Dock5	T	A	14: 67,836,410	I294F	probably benign	Het
Fat2	A	T	11: 55,282,968	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,377,506	D626V	probably damaging	Het
Gm6563	A	G	19: 23,675,926	T27A	probably benign	Het
Hadhb	T	C	5: 30,168,570		probably null	Het
Hsph1	A	T	5: 149,627,564	W406R	probably null	Het
Ighv1-66	C	T	12: 115,593,382	G27R	possibly damaging	Het
Impad1	C	T	4: 4,769,376	M246I	probably benign	Het
Krt26	T	C	11: 99,337,600	E102G	probably damaging	Het
Krt34	T	A	11: 100,040,145		probably null	Het
Krt36	T	C	11: 100,102,809	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,431,131	G326S	probably damaging	Het
Mkl2	A	T	16: 13,384,192		probably null	Het
Muc4	C	T	16: 32,752,993	T957I	probably benign	Het
Naip5	T	C	13: 100,222,235	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,635,644	V829E	probably benign	Het
Nmnat1	G	A	4: 149,473,370	L72F	possibly damaging	Het
Olfr1316	A	T	2: 112,129,985	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,129,065	V1161E	probably damaging	Het
Raver1	A	G	9: 21,090,280	Y86H	probably benign	Het
Recql4	G	T	15: 76,704,505	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,263,418	M814K	probably benign	Het
Sh3d19	T	G	3: 86,084,877	W71G	probably benign	Het
Sidt1	T	C	16: 44,245,166	Y759C	probably damaging	Het
Spg11	G	T	2: 122,113,079	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Ssc5d	A	T	7: 4,936,329	D588V	probably damaging	Het
Supt20	C	A	3: 54,707,116	T181K	probably damaging	Het
Szt2	A	T	4: 118,386,818	S1363R	probably benign	Het
Tbcel	G	A	9: 42,463,873		probably null	Het
Ube2e3	T	C	2: 78,918,814	L169P	probably damaging	Het
Wrn	A	G	8: 33,288,768	F595S	probably benign	Het
Zfp473	G	T	7: 44,732,899	P670Q	probably damaging	Het
Zw10	C	T	9: 49,074,999	A660V	probably benign	Het

Other mutations in Lrrc8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Lrrc8b	APN	5	105480499	missense	probably damaging	0.96
IGL00519:Lrrc8b	APN	5	105481725	missense	possibly damaging	0.82
IGL01732:Lrrc8b	APN	5	105485960	missense	probably damaging	1.00
IGL01799:Lrrc8b	APN	5	105485891	missense	probably benign
IGL02005:Lrrc8b	APN	5	105481054	missense	probably benign	0.22
IGL02205:Lrrc8b	APN	5	105481837	missense	probably benign	0.07
IGL03038:Lrrc8b	APN	5	105481492	missense	probably damaging	0.98
IGL03076:Lrrc8b	APN	5	105481549	missense	probably damaging	1.00
sospecho	UTSW	5	105480756	missense	probably damaging	1.00
Whiff	UTSW	5	105480271	missense	possibly damaging	0.80
IGL02796:Lrrc8b	UTSW	5	105481345	missense	probably damaging	1.00
R0647:Lrrc8b	UTSW	5	105480607	missense	possibly damaging	0.69
R0722:Lrrc8b	UTSW	5	105480112	missense	possibly damaging	0.89
R1382:Lrrc8b	UTSW	5	105480883	missense	probably damaging	1.00
R1437:Lrrc8b	UTSW	5	105481702	missense	probably damaging	1.00
R1801:Lrrc8b	UTSW	5	105480823	missense	probably damaging	1.00
R1888:Lrrc8b	UTSW	5	105481351	missense	probably benign	0.12
R1888:Lrrc8b	UTSW	5	105481351	missense	probably benign	0.12
R2169:Lrrc8b	UTSW	5	105481887	missense	probably damaging	0.99
R4514:Lrrc8b	UTSW	5	105479953	missense	probably damaging	1.00
R4898:Lrrc8b	UTSW	5	105480214	missense	probably benign	0.19
R5243:Lrrc8b	UTSW	5	105480946	missense	probably damaging	1.00
R5264:Lrrc8b	UTSW	5	105480252	missense	probably damaging	0.98
R5424:Lrrc8b	UTSW	5	105480703	missense	probably damaging	1.00
R5513:Lrrc8b	UTSW	5	105485984	missense	probably damaging	1.00
R5632:Lrrc8b	UTSW	5	105480297	missense	possibly damaging	0.81
R5799:Lrrc8b	UTSW	5	105481342	missense	probably benign	0.19
R5800:Lrrc8b	UTSW	5	105481342	missense	probably benign	0.19
R6637:Lrrc8b	UTSW	5	105480271	missense	possibly damaging	0.80
R7249:Lrrc8b	UTSW	5	105481267	missense	probably benign	0.23
R7253:Lrrc8b	UTSW	5	105481656	missense	probably benign	0.01
R7558:Lrrc8b	UTSW	5	105481711	missense	probably damaging	1.00
R8077:Lrrc8b	UTSW	5	105480017	missense	possibly damaging	0.48
R8423:Lrrc8b	UTSW	5	105480756	missense	probably damaging	1.00
R8765:Lrrc8b	UTSW	5	105481267	missense	probably benign
R8841:Lrrc8b	UTSW	5	105480322	missense	probably benign	0.00
R8912:Lrrc8b	UTSW	5	105481558	missense	probably damaging	1.00
R9040:Lrrc8b	UTSW	5	105480295	missense	probably benign	0.02
R9432:Lrrc8b	UTSW	5	105486022	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GTACGTGAATGTGCTGCTAGAG -3'
(R):5'- GAAAGTTCATCCTCCTATCCCGG -3'

Sequencing Primer
(F):5'- GCTGCTAGAGCCAGTCAAAAC -3'
(R):5'- ATCCCGGGGCCTCTTTAGAAC -3'

Posted On

2021-01-18