Mutagenetix > Incidental Mutations

Incidental Mutation 'R6443:Lrrc1'

519093

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 #

R6443 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77430823-77544870 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77434032 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 415 (F415L)

Ref Sequence

ENSEMBL: ENSMUSP00000109048 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113421
AA Change: F415L

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

SMART Domains

Protein: ENSMUSP00000109048
Gene: ENSMUSG00000032352
AA Change: F415L

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 benign
Transcript: ENSMUST00000183467

Predicted Effect

probably damaging
Transcript: ENSMUST00000183873
AA Change: F460L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139226
Gene: ENSMUSG00000032352
AA Change: F460L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184099

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 91.9%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,309,357	L27P	probably damaging	Het
Actr6	T	C	10: 89,714,871	N354D	probably damaging	Het
Apbb1	T	A	7: 105,573,763	N214Y	probably damaging	Het
Bcar1	A	T	8: 111,715,338	V290E	probably damaging	Het
Ces1f	T	A	8: 93,275,365	Q45L	probably benign	Het
Ctss	A	C	3: 95,546,803	K221T	probably benign	Het
Dclre1b	T	A	3: 103,803,188	N469I	possibly damaging	Het
Dnah12	C	A	14: 26,878,051	Q3683K	probably benign	Het
Dnah8	A	G	17: 30,771,885	I3301V	probably benign	Het
Ephb4	G	A	5: 137,360,449	G298E	probably damaging	Het
Eya3	T	C	4: 132,711,927	F455L	probably damaging	Het
Fkbp5	G	T	17: 28,429,279	A112D	probably damaging	Het
Glud1	T	C	14: 34,339,927	M468T	probably benign	Het
Gm5114	C	A	7: 39,407,717	R826L	possibly damaging	Het
Gramd3	G	A	18: 56,485,385	V222I	probably benign	Het
Kif1b	T	C	4: 149,192,596	M1337V	probably benign	Het
Lpin2	T	C	17: 71,241,668	S576P	probably benign	Het
Mtmr3	A	T	11: 4,487,358	I1032K	probably damaging	Het
Nr5a1	G	A	2: 38,710,430	T75M	probably damaging	Het
Nwd1	G	A	8: 72,662,366	V141I	possibly damaging	Het
Olfr1019	T	G	2: 85,841,635	D52A	probably damaging	Het
Olfr22-ps1	A	T	11: 73,955,092	Q134L	probably benign	Het
Olfr807	C	A	10: 129,755,408	G14V	probably damaging	Het
Pla1a	T	C	16: 38,409,587		probably null	Het
Ppp1r36	A	G	12: 76,417,639	S4G	probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Ryr1	A	T	7: 29,077,078	M2204K	probably damaging	Het
Ryr3	T	C	2: 112,675,933	N3428S	possibly damaging	Het
Slc6a4	A	G	11: 77,023,201	K526E	probably benign	Het
Slc9a8	G	A	2: 167,434,821	R78H	probably benign	Het
Sptbn1	T	C	11: 30,139,429	D611G	possibly damaging	Het
Sstr2	G	A	11: 113,625,254		probably null	Het
Tcf7	G	T	11: 52,253,938	T286N	probably benign	Het
Txndc5	A	G	13: 38,528,203	M69T	possibly damaging	Het
Usp48	T	A	4: 137,613,763	V358E	probably damaging	Het
Vmn2r1	T	A	3: 64,104,953	I745K	possibly damaging	Het
Zfp354b	A	G	11: 50,922,754	I448T	possibly damaging	Het
Zfp523	A	T	17: 28,201,407	T189S	probably damaging	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
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
R7885:Lrrc1	UTSW	9	77442189	missense	probably damaging	0.97
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'- GGCCCCATTCACTTGTCATGAC -3'
(R):5'- ATGGATTCAGACCAGTCAGCC -3'

Sequencing Primer
(F):5'- GTCATGACTTATGGCTTTGAGAAC -3'
(R):5'- GTCAGCCACTAAATTACAGTGTAGC -3'

Posted On

2018-05-24