Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01757:Lrrc8a'

153206

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc8a

Ensembl Gene

ENSMUSG00000007476

Gene Name

leucine rich repeat containing 8A

Synonyms

Lrrc8

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01757

Quality Score

Status

Chromosome

Chromosomal Location

30237715-30263790 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30255525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 117 (R117H)

Ref Sequence

ENSEMBL: ENSMUSP00000139038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095078] [ENSMUST00000113654] [ENSMUST00000139454]

AlphaFold

Q80WG5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095078
AA Change: R117H

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092690
Gene: ENSMUSG00000007476
AA Change: R117H

Domain	Start	End	E-Value	Type
Pfam:Pannexin_like	1	340	1.4e-146	PFAM
low complexity region	445	455	N/A	INTRINSIC
internal_repeat_1	461	526	7.6e-5	PROSPERO
low complexity region	540	558	N/A	INTRINSIC
LRR	590	613	5.41e0	SMART
LRR	614	636	3.18e2	SMART
LRR	638	660	6.78e1	SMART
LRR_TYP	661	684	1.06e-4	SMART
LRR	685	706	1.15e1	SMART
LRR_TYP	707	730	1.92e-2	SMART
LRR	731	751	1.81e2	SMART
LRR	753	776	2.02e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113654
AA Change: R117H

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109284
Gene: ENSMUSG00000007476
AA Change: R117H

Domain	Start	End	E-Value	Type
Pfam:DUF3733	1	65	3.3e-32	PFAM
Pfam:DUF3733	97	156	2e-22	PFAM
transmembrane domain	320	342	N/A	INTRINSIC
low complexity region	445	455	N/A	INTRINSIC
internal_repeat_1	461	526	7.6e-5	PROSPERO
low complexity region	540	558	N/A	INTRINSIC
LRR	590	613	5.41e0	SMART
LRR	614	636	3.18e2	SMART
LRR	638	660	6.78e1	SMART
LRR_TYP	661	684	1.06e-4	SMART
LRR	685	706	1.15e1	SMART
LRR_TYP	707	730	1.92e-2	SMART
LRR	731	751	1.81e2	SMART
LRR	753	776	2.02e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139454
AA Change: R117H

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139038
Gene: ENSMUSG00000099041
AA Change: R117H

Domain	Start	End	E-Value	Type
Pfam:DUF3733	1	65	3.3e-32	PFAM
Pfam:DUF3733	97	156	2e-22	PFAM
transmembrane domain	320	342	N/A	INTRINSIC
low complexity region	445	455	N/A	INTRINSIC
internal_repeat_1	461	526	7.6e-5	PROSPERO
low complexity region	540	558	N/A	INTRINSIC
LRR	590	613	5.41e0	SMART
LRR	614	636	3.18e2	SMART
LRR	638	660	6.78e1	SMART
LRR_TYP	661	684	1.06e-4	SMART
LRR	685	706	1.15e1	SMART
LRR_TYP	707	730	1.92e-2	SMART
LRR	731	751	1.81e2	SMART
LRR	753	776	2.02e-1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous for a knock-out allele exhibit prenatal lethality and premature death, growth retardation, sterility, multiple tissue abnormalities, a severe block in early thymic development, and impaired peripheral T cell function. B cell development is modestly impaired but B cell function is normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,990,281		probably benign	Het
Adamts9	T	C	6: 92,796,159	Y1789C	probably damaging	Het
Cdcp1	A	T	9: 123,180,001	Y537*	probably null	Het
Chic2	T	C	5: 75,006,767		probably benign	Het
Cpa5	G	A	6: 30,625,927		probably benign	Het
Csgalnact2	T	C	6: 118,129,346	R4G	probably damaging	Het
Dnah10	T	A	5: 124,768,927	V1510D	probably benign	Het
Dnm2	T	A	9: 21,465,619	F91L	probably damaging	Het
Eif2b1	T	C	5: 124,573,140	K189E	probably benign	Het
Fgf17	A	T	14: 70,636,980	L123Q	probably damaging	Het
Ifna15	T	C	4: 88,558,085	K54R	possibly damaging	Het
Isg15	A	G	4: 156,199,844	C76R	probably damaging	Het
Ldb2	A	T	5: 44,541,867		probably benign	Het
Lig4	A	G	8: 9,971,185	I865T	probably benign	Het
Lrrc46	T	C	11: 97,035,875	Y154C	probably damaging	Het
Mrpl2	A	G	17: 46,648,257	I96V	probably damaging	Het
Mtif2	G	A	11: 29,541,337		probably benign	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Ptpn23	G	A	9: 110,391,636	R269W	probably damaging	Het
Senp2	T	C	16: 22,009,664	V8A	probably benign	Het
Slf1	T	C	13: 77,084,440	D515G	probably benign	Het
Spc25	G	A	2: 69,202,608	Q58*	probably null	Het
Sult2a5	T	C	7: 13,665,154	S229P	probably damaging	Het
Tfap2d	A	G	1: 19,104,580	T86A	probably benign	Het
Trp53bp1	A	G	2: 121,211,304	V1257A	probably damaging	Het
Wdr6	A	G	9: 108,576,228	V152A	possibly damaging	Het
Zdhhc7	A	G	8: 120,087,923	V49A	probably benign	Het
Zfp648	T	C	1: 154,204,925	S277P	probably damaging	Het

Other mutations in Lrrc8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Lrrc8a	APN	2	30255315	missense	probably benign	0.32
IGL01161:Lrrc8a	APN	2	30255810	missense	probably damaging	1.00
IGL01419:Lrrc8a	APN	2	30257099	missense	probably benign	0.09
IGL02390:Lrrc8a	APN	2	30256701	missense	probably damaging	1.00
IGL02608:Lrrc8a	APN	2	30256299	missense	possibly damaging	0.91
IGL02938:Lrrc8a	APN	2	30255686	missense	probably damaging	1.00
IGL02960:Lrrc8a	APN	2	30257013	missense	probably damaging	1.00
IGL03139:Lrrc8a	APN	2	30255671	missense	probably damaging	1.00
IGL03166:Lrrc8a	APN	2	30255365	missense	probably benign
R0033:Lrrc8a	UTSW	2	30255345	missense	probably damaging	1.00
R0033:Lrrc8a	UTSW	2	30255345	missense	probably damaging	1.00
R0276:Lrrc8a	UTSW	2	30256788	missense	possibly damaging	0.54
R0432:Lrrc8a	UTSW	2	30257067	missense	probably damaging	1.00
R0751:Lrrc8a	UTSW	2	30256350	missense	possibly damaging	0.82
R1924:Lrrc8a	UTSW	2	30255250	missense	probably damaging	1.00
R2029:Lrrc8a	UTSW	2	30256649	missense	probably damaging	1.00
R3852:Lrrc8a	UTSW	2	30261960	missense	probably benign	0.30
R4898:Lrrc8a	UTSW	2	30257202	missense	probably benign	0.00
R5175:Lrrc8a	UTSW	2	30255512	missense	probably damaging	1.00
R5616:Lrrc8a	UTSW	2	30255354	missense	probably benign	0.09
R5874:Lrrc8a	UTSW	2	30257136	missense	probably damaging	1.00
R6228:Lrrc8a	UTSW	2	30256553	missense	possibly damaging	0.82
R6406:Lrrc8a	UTSW	2	30257091	missense	possibly damaging	0.56
R6456:Lrrc8a	UTSW	2	30255474	missense	probably benign	0.14
R6833:Lrrc8a	UTSW	2	30255647	missense	possibly damaging	0.92
R6834:Lrrc8a	UTSW	2	30255647	missense	possibly damaging	0.92
R6945:Lrrc8a	UTSW	2	30256227	missense	probably damaging	1.00
R7675:Lrrc8a	UTSW	2	30255668	missense	probably damaging	1.00
R8500:Lrrc8a	UTSW	2	30256196	missense	possibly damaging	0.65
R8528:Lrrc8a	UTSW	2	30255545	missense	probably damaging	1.00
R8734:Lrrc8a	UTSW	2	30256607	missense	probably benign	0.12
R8879:Lrrc8a	UTSW	2	30256298	missense	probably benign	0.16
R9112:Lrrc8a	UTSW	2	30255770	missense	probably damaging	0.99
R9130:Lrrc8a	UTSW	2	30257030	missense	possibly damaging	0.82
R9456:Lrrc8a	UTSW	2	30255651	missense	probably damaging	1.00
Z1177:Lrrc8a	UTSW	2	30256313	missense	probably damaging	1.00

Posted On

2014-02-04