Mutagenetix > Incidental Mutation

Incidental Mutation 'R8810:Lrrc8e'

672349

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 #

R8810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4226827-4237470 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4235070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 432 (V432I)

Ref Sequence

ENSEMBL: ENSMUSP00000052055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003027] [ENSMUST00000053035] [ENSMUST00000062686] [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: V432I

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000052055
Gene: ENSMUSG00000046589
AA Change: V432I

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: 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: 99.9%
20x: 99.6%

Validation Efficiency

99% (82/83)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 79,099,704	S1408P	probably damaging	Het
Acap3	T	C	4: 155,905,712	V783A	probably damaging	Het
Akap8	T	C	17: 32,306,530	N525S	probably damaging	Het
Aqp1	C	T	6: 55,336,621	T44M	probably damaging	Het
Arap1	T	C	7: 101,404,378	Y1305H	probably damaging	Het
Atg2a	T	G	19: 6,250,621	S743A	probably benign	Het
AW551984	G	T	9: 39,600,011	L133I	probably damaging	Het
Bahcc1	C	A	11: 120,273,761	P802T	possibly damaging	Het
Brd8	C	A	18: 34,609,949	V288L	probably benign	Het
Carmil2	T	C	8: 105,686,315		probably null	Het
Catspere2	G	A	1: 178,077,482	E153K	possibly damaging	Het
Ccdc162	C	T	10: 41,666,741	R379Q	probably benign	Het
Cdh16	A	G	8: 104,614,504	L116P	probably damaging	Het
Cenpj	A	T	14: 56,558,619	H260Q	possibly damaging	Het
Cenpq	A	G	17: 40,933,136	V17A	possibly damaging	Het
Cep350	T	C	1: 155,928,116	K1074E	probably damaging	Het
Chil4	C	A	3: 106,201,805	C394F	probably damaging	Het
Chst9	T	C	18: 15,717,926	I28V	probably benign	Het
Clasp2	C	A	9: 113,899,581	N873K	probably damaging	Het
Clec4b2	T	A	6: 123,181,310	M45K	probably benign	Het
Cmya5	T	A	13: 93,063,540	T3427S	possibly damaging	Het
Cnih4	A	G	1: 181,162,212	Y130C	probably damaging	Het
Cpne9	T	A	6: 113,304,545	M529K	probably damaging	Het
Ctsr	T	A	13: 61,161,825	Y190F	probably damaging	Het
Cyp2j13	G	A	4: 96,056,916	H351Y	probably benign	Het
Dixdc1	T	A	9: 50,701,965	Q230L	probably damaging	Het
Dpep1	A	T	8: 123,200,025	I226F	probably benign	Het
Ehd2	A	G	7: 15,957,678	V243A	probably benign	Het
Etnk2	T	A	1: 133,378,494	Y353N	probably benign	Het
Fgg	G	T	3: 83,013,015	G367V	probably damaging	Het
Gm11639	A	T	11: 104,914,895	N3076I	unknown	Het
Gm609	T	C	16: 45,443,836	T120A	probably benign	Het
Gm9772	T	C	17: 22,006,329	*61Q	probably null	Het
Grk5	T	G	19: 61,089,994	D496E	possibly damaging	Het
Hc	T	C	2: 35,019,523	N915S	probably benign	Het
Iah1	G	T	12: 21,317,387	Q31H	probably benign	Het
Insr	T	C	8: 3,169,714	D936G	probably benign	Het
Ints6	A	C	14: 62,702,453	V596G	probably benign	Het
Ispd	A	T	12: 36,390,482	N130Y	probably damaging	Het
Kcnj16	A	G	11: 111,024,851	D113G	possibly damaging	Het
Kdm4b	A	T	17: 56,399,771	I928F	probably damaging	Het
Lrrc41	C	T	4: 116,075,291		probably benign	Het
Mamdc4	T	C	2: 25,568,489	E336G	probably benign	Het
Maml2	C	A	9: 13,621,622	Q711K		Het
Map3k14	T	C	11: 103,227,672	T563A	possibly damaging	Het
Mcu	T	A	10: 59,467,713	K101*	probably null	Het
Mettl22	T	A	16: 8,485,928	V286E	probably damaging	Het
Mon2	A	T	10: 123,009,611	N1396K	possibly damaging	Het
Mprip	T	C	11: 59,697,025		probably benign	Het
Mrpl51	C	T	6: 125,193,381	L117F	probably damaging	Het
Myo1d	C	A	11: 80,674,932	V356F	probably damaging	Het
Myo1d	T	A	11: 80,676,932	I241F	probably benign	Het
Naalad2	A	T	9: 18,385,934		probably benign	Het
Nacad	T	C	11: 6,602,853	T113A	probably benign	Het
Nrap	T	A	19: 56,364,411		probably benign	Het
Olfr1134	T	C	2: 87,656,247	I225V	possibly damaging	Het
Olfr1336	T	C	7: 6,460,764	L85P	probably damaging	Het
Olfr1358	G	A	10: 78,520,450	V281M	possibly damaging	Het
Olfr290	T	A	7: 84,916,418	I213N	possibly damaging	Het
Olfr30	T	C	11: 58,455,110	T280A	possibly damaging	Het
Olfr661	T	A	7: 104,688,180	I55N	probably damaging	Het
Osbpl3	T	C	6: 50,351,872	D117G	probably damaging	Het
Parp9	C	T	16: 35,953,611	R318*	probably null	Het
Pcdhb18	A	G	18: 37,490,321	I235V	probably benign	Het
Pex16	T	G	2: 92,379,021		probably benign	Het
Piezo2	T	A	18: 63,114,963	M489L	probably benign	Het
Pmepa1	C	A	2: 173,227,835	G271V	probably damaging	Het
Safb	A	G	17: 56,603,579	E659G	unknown	Het
Scn9a	T	C	2: 66,501,666	T1289A	probably damaging	Het
Secisbp2l	T	C	2: 125,775,676	D27G	possibly damaging	Het
Serpina1f	A	G	12: 103,693,981	V14A	probably benign	Het
Serpinb9b	C	A	13: 33,029,469	T3N	possibly damaging	Het
Sfxn5	C	T	6: 85,229,200	M315I	probably benign	Het
Slc9b2	A	G	3: 135,329,769	D333G	probably benign	Het
Sostdc1	A	G	12: 36,317,230	N135S	possibly damaging	Het
Spg11	T	G	2: 122,070,944	D1505A	probably damaging	Het
Taar7a	T	C	10: 23,993,381	N34S	probably benign	Het
Tcerg1l	C	A	7: 138,209,797	R556L	possibly damaging	Het
Tcp11l1	T	C	2: 104,688,418	K311R	probably benign	Het
Tepp	A	T	8: 95,321,255		probably benign	Het
Trbv16	T	G	6: 41,152,038	F52C	probably damaging	Het
Ttn	T	A	2: 76,895,672	R6073S	unknown	Het
Uba1y	T	C	Y: 828,818	I542T	possibly damaging	Het
Vmn1r214	T	C	13: 23,034,912	I192T	probably benign	Het
Vmn2r67	C	T	7: 85,137,138	C553Y	probably damaging	Het
Zdhhc17	G	T	10: 110,948,260	H452N	possibly damaging	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
R7350:Lrrc8e	UTSW	8	4235626	missense	probably benign	0.14
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
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'- ATTCCAAACGCTTTGCAGTC -3'
(R):5'- CAGGTGCAGTTCTTCTAAGCC -3'

Sequencing Primer
(F):5'- GCAGTCTTCCTCTCTGAAGTCAGTG -3'
(R):5'- GTGCAGTTCTTCTAAGCCTCGAAG -3'

Posted On

2021-04-30