Mutagenetix > Incidental Mutation

Incidental Mutation 'R7350:Lrrc8e'

570503

Institutional Source

Beutler Lab

Gene Symbol

Lrrc8e

Ensembl Gene

ENSMUSG00000046589

Gene Name

leucine rich repeat containing 8 family, member E

Synonyms

1810049O03Rik, C87354

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R7350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4226827-4237470 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4235626 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 617 (R617L)

Ref Sequence

ENSEMBL: ENSMUSP00000052055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003027] [ENSMUST00000053035] [ENSMUST00000062686] [ENSMUST00000110994] [ENSMUST00000110995] [ENSMUST00000110998] [ENSMUST00000110999] [ENSMUST00000145165] [ENSMUST00000207770]

AlphaFold

Q66JT1

Predicted Effect

probably benign
Transcript: ENSMUST00000003027

SMART Domains

Protein: ENSMUSP00000003027
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	69	89	N/A	INTRINSIC
S_TKc	136	396	8.43e-72	SMART
low complexity region	435	455	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000053035
AA Change: R617L

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000052055
Gene: ENSMUSG00000046589
AA Change: R617L

Domain	Start	End	E-Value	Type
Pfam:Pannexin_like	1	330	3.8e-143	PFAM
low complexity region	504	516	N/A	INTRINSIC
LRR	603	627	3.97e0	SMART
LRR	628	650	2.33e2	SMART
LRR_TYP	651	674	6.08e-5	SMART
LRR	676	696	6.78e1	SMART
LRR_TYP	697	720	2.43e-4	SMART
LRR	721	742	1.09e2	SMART
LRR_TYP	743	766	9.44e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062686

SMART Domains

Protein: ENSMUSP00000054512
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	69	89	N/A	INTRINSIC
S_TKc	136	396	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110994

SMART Domains

Protein: ENSMUSP00000106622
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
S_TKc	47	307	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110995

SMART Domains

Protein: ENSMUSP00000106623
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
S_TKc	47	307	8.43e-72	SMART
low complexity region	346	366	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110998

SMART Domains

Protein: ENSMUSP00000106626
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	36	47	N/A	INTRINSIC
low complexity region	53	73	N/A	INTRINSIC
S_TKc	120	380	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110999

SMART Domains

Protein: ENSMUSP00000106627
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	36	47	N/A	INTRINSIC
low complexity region	53	73	N/A	INTRINSIC
S_TKc	120	380	8.43e-72	SMART
low complexity region	419	439	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145165

SMART Domains

Protein: ENSMUSP00000117418
Gene: ENSMUSG00000109061

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	69	89	N/A	INTRINSIC
S_TKc	136	396	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207770

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	A	T	17: 25,946,711	V534D	probably damaging	Het
Abraxas2	T	C	7: 132,874,849	F106S	probably damaging	Het
Acsf3	A	G	8: 122,785,946	T369A	probably benign	Het
Adgrf5	G	A	17: 43,428,444		probably null	Het
Aff1	T	A	5: 103,847,092	I1052K	probably benign	Het
Akap8	T	C	17: 32,316,575	D155G	possibly damaging	Het
Alg10b	A	T	15: 90,227,450	M166L	probably benign	Het
Allc	T	A	12: 28,563,409	Q178L	possibly damaging	Het
Angptl4	C	A	17: 33,777,110	L297F	probably damaging	Het
Arfgap1	A	G	2: 180,971,076	K8E	possibly damaging	Het
Bckdhb	T	A	9: 84,010,326	V270E	possibly damaging	Het
Cbx3	T	C	6: 51,475,375		probably null	Het
Cd44	G	T	2: 102,834,262	N531K	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cr2	A	G	1: 195,155,286	V792A	probably benign	Het
Cstf3	T	C	2: 104,608,956	L38P	probably damaging	Het
Cyp2a5	A	G	7: 26,836,783	E151G	probably benign	Het
Dbr1	T	C	9: 99,582,549	F127S		Het
Ddit4	A	T	10: 59,951,495	D6E	probably damaging	Het
Disc1	G	C	8: 125,165,102	R631S	probably damaging	Het
Dnah5	T	A	15: 28,235,819		probably null	Het
Dnah9	T	C	11: 66,080,578	K1595E	probably damaging	Het
Dnmbp	T	C	19: 43,901,505	R608G	probably damaging	Het
Efcab5	G	C	11: 77,137,561	P315A	probably benign	Het
Eif4a2	A	G	16: 23,113,262	Y392C	possibly damaging	Het
F5	G	T	1: 164,192,708	K917N	probably benign	Het
Fig4	T	C	10: 41,251,756	M571V	probably benign	Het
Flot2	T	A	11: 78,057,976	I259N	probably damaging	Het
Gm8122	C	A	14: 43,230,601		probably null	Het
Gpr152	T	C	19: 4,142,964	V168A	possibly damaging	Het
H1f0	G	A	15: 79,028,903	G61D	probably damaging	Het
Ihh	T	A	1: 74,948,333	K183M	probably damaging	Het
Itga2	A	G	13: 114,837,202	L1116P	probably damaging	Het
Kcnj10	A	G	1: 172,369,260	T114A	possibly damaging	Het
Kcnk3	T	G	5: 30,621,966	L120R	probably damaging	Het
Krt14	C	A	11: 100,205,100	E211*	probably null	Het
Lars2	T	C	9: 123,427,480	L350P	probably damaging	Het
Lrba	T	C	3: 86,351,902	I1408T	probably damaging	Het
Lrrc27	A	G	7: 139,226,106	E229G	probably benign	Het
M1ap	A	G	6: 82,981,949	D187G	probably benign	Het
March1	A	T	8: 66,468,399	K243*	probably null	Het
Med16	C	T	10: 79,903,197	V252M	probably damaging	Het
Micu3	T	C	8: 40,348,958	S189P	probably benign	Het
Mier2	C	A	10: 79,540,298	M264I	unknown	Het
Mindy4	A	T	6: 55,301,025	N618I	probably damaging	Het
Mmrn1	C	T	6: 60,976,336	Q534*	probably null	Het
Mroh9	C	T	1: 163,076,289		probably null	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Mta3	T	A	17: 83,708,441	I24N	probably damaging	Het
Mtmr4	A	T	11: 87,600,650	H147L	probably damaging	Het
Nfam1	T	C	15: 83,010,439	K155R	probably benign	Het
Nlrp6	A	T	7: 140,921,278		probably benign	Het
Olfr1006	A	G	2: 85,674,845	F102S		Het
Olfr1153	T	C	2: 87,896,409		probably benign	Het
Olfr1164	A	T	2: 88,093,198	F246Y	probably benign	Het
Olfr213	A	G	6: 116,540,534	E27G	probably benign	Het
Olfr357	T	A	2: 36,996,861	I17N	possibly damaging	Het
P4ha1	A	G	10: 59,350,418	R240G	probably damaging	Het
Pla2r1	G	T	2: 60,458,379	D636E	probably benign	Het
Polr2a	A	G	11: 69,741,060	L1060P	possibly damaging	Het
Ptgdr2	C	A	19: 10,940,955	Q279K	probably benign	Het
Rab11fip2	T	A	19: 59,937,421	R121S	probably benign	Het
Rasa2	T	C	9: 96,544,355	S813G	probably benign	Het
Rassf5	T	C	1: 131,178,536	K411E	possibly damaging	Het
Reep4	T	C	14: 70,546,547	Y35H	probably damaging	Het
Ror1	A	T	4: 100,425,943	M402L	probably benign	Het
Slc32a1	A	G	2: 158,614,406	E327G	probably damaging	Het
Spen	C	T	4: 141,479,385	E644K	unknown	Het
Tarsl2	C	G	7: 65,658,924	Q281E	probably damaging	Het
Tcl1	A	G	12: 105,218,675	I92T	probably damaging	Het
Tifab	A	G	13: 56,176,307	S108P	probably damaging	Het
Traf1	T	C	2: 34,948,233	N198D	probably benign	Het
Trim35	T	C	14: 66,309,205	Y474H	probably damaging	Het
Trim54	T	A	5: 31,137,161	D344E	probably benign	Het
Ttc28	A	T	5: 111,226,037	H1113L	probably damaging	Het
Vcam1	T	A	3: 116,114,562	D617V	probably damaging	Het
Vmn2r81	A	T	10: 79,268,385	T281S	probably benign	Het
Whrn	C	T	4: 63,431,959	R507K	possibly damaging	Het
Zdhhc14	A	G	17: 5,726,876	S303G	probably benign	Het
Zfp292	A	T	4: 34,806,839	N2073K	probably benign	Het
Zgpat	T	A	2: 181,380,435	V163D		Het

Other mutations in Lrrc8e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Lrrc8e	APN	8	4235921	missense	probably benign
IGL00943:Lrrc8e	APN	8	4235658	missense	probably damaging	1.00
IGL00979:Lrrc8e	APN	8	4235080	missense	probably damaging	1.00
IGL01138:Lrrc8e	APN	8	4234084	missense	probably damaging	1.00
IGL01458:Lrrc8e	APN	8	4236141	missense	probably damaging	1.00
IGL02524:Lrrc8e	APN	8	4235392	missense	probably damaging	1.00
IGL02831:Lrrc8e	APN	8	4235429	missense	probably damaging	0.96
IGL03135:Lrrc8e	APN	8	4235776	missense	probably damaging	1.00
R0242:Lrrc8e	UTSW	8	4235401	missense	probably benign	0.00
R0242:Lrrc8e	UTSW	8	4235401	missense	probably benign	0.00
R0312:Lrrc8e	UTSW	8	4235733	missense	probably benign
R0601:Lrrc8e	UTSW	8	4235239	splice site	probably null
R1167:Lrrc8e	UTSW	8	4235337	missense	probably benign
R1405:Lrrc8e	UTSW	8	4231754	missense	probably damaging	1.00
R1405:Lrrc8e	UTSW	8	4231754	missense	probably damaging	1.00
R1540:Lrrc8e	UTSW	8	4234990	missense	probably benign	0.41
R1677:Lrrc8e	UTSW	8	4234190	missense	probably damaging	1.00
R1916:Lrrc8e	UTSW	8	4235202	missense	probably benign	0.01
R2185:Lrrc8e	UTSW	8	4234986	nonsense	probably null
R2290:Lrrc8e	UTSW	8	4231770	missense	probably damaging	1.00
R3424:Lrrc8e	UTSW	8	4234611	missense	probably damaging	1.00
R4628:Lrrc8e	UTSW	8	4233981	missense	probably damaging	1.00
R4996:Lrrc8e	UTSW	8	4235166	missense	probably damaging	1.00
R5169:Lrrc8e	UTSW	8	4234329	missense	probably benign
R5516:Lrrc8e	UTSW	8	4235818	missense	probably damaging	1.00
R5870:Lrrc8e	UTSW	8	4235725	missense	possibly damaging	0.60
R6687:Lrrc8e	UTSW	8	4234798	missense	probably damaging	1.00
R6700:Lrrc8e	UTSW	8	4236034	missense	probably damaging	1.00
R7344:Lrrc8e	UTSW	8	4234815	missense	probably damaging	1.00
R7555:Lrrc8e	UTSW	8	4234363	missense	probably benign	0.05
R7691:Lrrc8e	UTSW	8	4234534	missense	probably damaging	1.00
R8112:Lrrc8e	UTSW	8	4235575	missense	probably benign	0.14
R8184:Lrrc8e	UTSW	8	4235140	missense	probably damaging	0.99
R8328:Lrrc8e	UTSW	8	4235641	missense	probably damaging	1.00
R8355:Lrrc8e	UTSW	8	4234018	missense	probably benign	0.02
R8487:Lrrc8e	UTSW	8	4234218	missense	probably damaging	1.00
R8810:Lrrc8e	UTSW	8	4235070	missense	probably benign	0.03
R8971:Lrrc8e	UTSW	8	4234141	missense	probably damaging	1.00
R9088:Lrrc8e	UTSW	8	4234410	missense	probably damaging	0.96
R9150:Lrrc8e	UTSW	8	4236030	missense	probably benign	0.06
R9225:Lrrc8e	UTSW	8	4234561	missense	probably damaging	1.00
R9255:Lrrc8e	UTSW	8	4234504	missense	probably damaging	1.00
R9442:Lrrc8e	UTSW	8	4233964	missense	probably benign	0.01
R9463:Lrrc8e	UTSW	8	4235185	missense	probably damaging	0.99
R9475:Lrrc8e	UTSW	8	4235346	missense	probably benign
Z1176:Lrrc8e	UTSW	8	4234822	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCAGCCTGCACAATGATGG -3'
(R):5'- AGACTCTCGAGTGCGTTGTAG -3'

Sequencing Primer
(F):5'- TGCACAATGATGGGGCTC -3'
(R):5'- TCTGGAGAAGGCCCAACTCAG -3'

Posted On

2019-09-13