Mutagenetix > Incidental Mutations

Incidental Mutation 'R7885:Lrrc1'

609014

Institutional Source

Beutler Lab

Gene Symbol

Lrrc1

Ensembl Gene

ENSMUSG00000032352

Gene Name

leucine rich repeat containing 1

Synonyms

A430093J20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R7885 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77430823-77544870 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77442189 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 365 (V365E)

Ref Sequence

ENSEMBL: ENSMUSP00000139226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113421] [ENSMUST00000183873]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113421
AA Change: V320E

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109048
Gene: ENSMUSG00000032352
AA Change: V320E

Domain	Start	End	E-Value	Type
LRR	13	35	6.57e-1	SMART
LRR	36	59	1.12e2	SMART
LRR	82	104	2.15e2	SMART
LRR	105	127	3.09e1	SMART
LRR	128	150	2.14e0	SMART
LRR	151	173	3.02e0	SMART
LRR	174	196	3.47e0	SMART
LRR	197	219	6.58e0	SMART
LRR_TYP	220	243	4.72e-2	SMART
LRR	266	289	8.97e0	SMART
LRR	313	335	1.49e2	SMART
coiled coil region	440	461	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000183873
AA Change: V365E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139226
Gene: ENSMUSG00000032352
AA Change: V365E

Domain	Start	End	E-Value	Type
LRR	36	57	3.18e1	SMART
LRR	58	80	6.57e-1	SMART
LRR	81	104	1.12e2	SMART
LRR	127	149	2.15e2	SMART
LRR	150	172	3.09e1	SMART
LRR	173	195	2.14e0	SMART
LRR	196	218	3.02e0	SMART
LRR	219	241	3.47e0	SMART
LRR	242	264	6.58e0	SMART
LRR_TYP	265	288	4.72e-2	SMART
LRR	311	334	8.97e0	SMART
LRR	358	380	1.49e2	SMART
coiled coil region	485	506	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,189,314	L608P	probably damaging	Het
Adarb1	A	G	10: 77,295,708	V649A	possibly damaging	Het
Arglu1	C	T	8: 8,667,337	R244H	possibly damaging	Het
Asic5	A	T	3: 82,006,505	Y204F	probably benign	Het
Asz1	A	G	6: 18,104,877	F76S	probably damaging	Het
Bin1	G	A	18: 32,419,843	A174T	probably damaging	Het
Bnipl	A	C	3: 95,250,240	S23A	probably benign	Het
Cd19	T	C	7: 126,412,131	T294A	probably benign	Het
Cdon	G	A	9: 35,456,522	V238I	probably benign	Het
Chd3	A	T	11: 69,356,625	D957E	probably benign	Het
Crhbp	T	C	13: 95,432,007	Q307R	probably damaging	Het
Cst3	A	G	2: 148,872,821	M112T	probably benign	Het
Dgkb	A	G	12: 38,139,426	E276G	probably damaging	Het
Exoc4	T	A	6: 33,758,066	N539K	probably benign	Het
Gm3099	A	G	14: 3,999,461	E85G	probably benign	Het
Gpatch2	A	G	1: 187,225,501		probably null	Het
Hs3st5	T	A	10: 36,828,780	Y26*	probably null	Het
Hspg2	A	T	4: 137,516,837	D802V	probably damaging	Het
Ifih1	A	G	2: 62,601,469	V846A	possibly damaging	Het
Lama4	T	A	10: 39,088,844	S1402T	probably benign	Het
Lrmda	A	G	14: 22,598,320	T73A	unknown	Het
Lrrc37a	T	A	11: 103,503,042	Q519L	probably benign	Het
Mlc1	G	T	15: 88,977,904	D36E	probably benign	Het
Mrc2	A	T	11: 105,332,266	D445V	probably damaging	Het
Muc16	A	G	9: 18,639,464	S5178P	probably benign	Het
Nbea	A	G	3: 55,665,689	I2491T	probably damaging	Het
Ncoa1	A	G	12: 4,339,044	I77T	probably damaging	Het
Npepps	G	T	11: 97,218,648	H701N	probably damaging	Het
Olfr733	T	G	14: 50,298,584	T242P	probably damaging	Het
Olfr837	A	T	9: 19,137,535	I181F	possibly damaging	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,714,190		probably null	Het
Pclo	TCTAT	TCTATACTAT	5: 14,714,191		probably null	Het
Pclo	T	TTCTAG	5: 14,714,195		probably null	Het
Pi4kb	T	C	3: 94,999,076	Y645H	probably damaging	Het
Pik3r5	C	T	11: 68,492,702	A449V	possibly damaging	Het
Plat	A	G	8: 22,771,720	T45A	probably benign	Het
Platr25	T	C	13: 62,700,862	K62R	possibly damaging	Het
Ppp5c	A	G	7: 17,006,186	V410A	possibly damaging	Het
Prdm2	C	T	4: 143,134,570	A717T	probably benign	Het
Pstpip2	C	A	18: 77,794,722	T2K	probably benign	Het
Ptpn12	A	C	5: 20,998,525	S418R	possibly damaging	Het
Rint1	A	G	5: 23,805,644	S255G	probably benign	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Stab2	T	C	10: 86,878,912	H1581R	probably benign	Het
Stau2	T	C	1: 16,460,353	Y114C	unknown	Het
Ticam1	T	C	17: 56,271,067	T343A	probably benign	Het
Tmem131l	T	C	3: 83,910,417	K1259E	possibly damaging	Het
Vmn2r103	T	A	17: 19,793,123	F169I	probably benign	Het
Vps33a	T	C	5: 123,535,249	K425E	possibly damaging	Het
Vwa8	T	C	14: 79,020,649	M746T	probably benign	Het
Zc3hav1	A	G	6: 38,336,663	I149T	possibly damaging	Het
Zfp708	A	T	13: 67,074,129	D62E	probably benign	Het

Other mutations in Lrrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02556:Lrrc1	APN	9	77435122	missense	probably benign	0.00
IGL02975:Lrrc1	APN	9	77452647	missense	probably damaging	1.00
IGL03063:Lrrc1	APN	9	77499269	missense	probably damaging	0.99
R0610:Lrrc1	UTSW	9	77472206	missense	possibly damaging	0.95
R1462:Lrrc1	UTSW	9	77442265	missense	probably benign	0.01
R1462:Lrrc1	UTSW	9	77442265	missense	probably benign	0.01
R1615:Lrrc1	UTSW	9	77435118	missense	possibly damaging	0.94
R2932:Lrrc1	UTSW	9	77457439	missense	probably benign	0.01
R5087:Lrrc1	UTSW	9	77457458	missense	probably benign
R5907:Lrrc1	UTSW	9	77434097	missense	probably damaging	0.99
R6443:Lrrc1	UTSW	9	77434032	missense	probably damaging	1.00
R6502:Lrrc1	UTSW	9	77442191	missense	probably damaging	1.00
R7073:Lrrc1	UTSW	9	77468565	missense	probably benign	0.04
R7162:Lrrc1	UTSW	9	77432190	missense	probably benign	0.13
R7177:Lrrc1	UTSW	9	77472222	nonsense	probably null
R7290:Lrrc1	UTSW	9	77457839	missense	probably benign	0.01
R8301:Lrrc1	UTSW	9	77544488	missense	probably damaging	1.00
R8375:Lrrc1	UTSW	9	77457847	missense	probably damaging	1.00
RF020:Lrrc1	UTSW	9	77452631	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGCTCTGAAGTAGCCCAG -3'
(R):5'- TGACCATCGGTGAAGTTTAAACATC -3'

Sequencing Primer
(F):5'- CTCTGAAGTAGCCCAGGGTGTG -3'
(R):5'- AAACATCATATGCTTCTTCATGCC -3'

Posted On

2019-12-20