Mutagenetix > Incidental Mutation

Incidental Mutation 'R8301:Lrrc1'

639268

Institutional Source

Beutler Lab

Gene Symbol

Lrrc1

Ensembl Gene

ENSMUSG00000032352

Gene Name

leucine rich repeat containing 1

Synonyms

A430093J20Rik

MMRRC Submission

067789-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R8301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77338105-77452152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77451770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 46 (N46Y)

Ref Sequence

ENSEMBL: ENSMUSP00000139226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113421] [ENSMUST00000183734] [ENSMUST00000183873]

AlphaFold

Q80VQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000113421

SMART Domains

Protein: ENSMUSP00000109048
Gene: ENSMUSG00000032352

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: ENSMUST00000183734
AA Change: N46Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138912
Gene: ENSMUSG00000032352
AA Change: N46Y

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	289	311	8.03e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000183873
AA Change: N46Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139226
Gene: ENSMUSG00000032352
AA Change: N46Y

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,120,364 (GRCm39)	I374F	probably benign	Het
Ak9	G	A	10: 41,300,712 (GRCm39)	V1108I		Het
Aldh16a1	C	T	7: 44,791,406 (GRCm39)	A790T	possibly damaging	Het
Anks1	A	T	17: 28,278,554 (GRCm39)		probably benign	Het
Antxr2	T	G	5: 98,125,538 (GRCm39)	T240P	probably benign	Het
Arfgef1	A	T	1: 10,250,058 (GRCm39)	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,528,866 (GRCm39)	T1591A	probably benign	Het
Aurka	A	G	2: 172,198,850 (GRCm39)	S374P	probably damaging	Het
Bccip	T	C	7: 133,320,933 (GRCm39)	S236P	probably benign	Het
Cacna1s	T	A	1: 136,001,179 (GRCm39)		probably benign	Het
Calm1	A	G	12: 100,171,944 (GRCm39)	E132G	probably benign	Het
Casz1	A	G	4: 149,030,500 (GRCm39)	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659 (GRCm39)	D413G	probably damaging	Het
Cfap57	A	G	4: 118,450,271 (GRCm39)	I617T	possibly damaging	Het
Creb5	A	G	6: 53,658,018 (GRCm39)	D116G	possibly damaging	Het
Csnka2ip	A	C	16: 64,299,354 (GRCm39)	S337A	unknown	Het
Ddx60	A	G	8: 62,453,631 (GRCm39)	E1250G	probably benign	Het
Dlgap2	T	A	8: 14,873,577 (GRCm39)	S727T	probably benign	Het
Dpy19l1	T	C	9: 24,396,407 (GRCm39)		probably benign	Het
Ebf2	A	G	14: 67,476,431 (GRCm39)	T134A	possibly damaging	Het
Echdc2	A	T	4: 108,030,106 (GRCm39)	M136L	probably benign	Het
Enpp2	A	G	15: 54,714,803 (GRCm39)	F598S	probably benign	Het
Extl3	A	C	14: 65,313,733 (GRCm39)	L483R	probably damaging	Het
Gcat	T	C	15: 78,920,089 (GRCm39)	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,381,442 (GRCm39)	D344G	probably damaging	Het
Ighm	C	T	12: 113,385,165 (GRCm39)	G265D		Het
Igsf9b	T	G	9: 27,246,035 (GRCm39)		probably benign	Het
Ints6	A	G	14: 62,939,902 (GRCm39)	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120 (GRCm39)	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,818,659 (GRCm39)		probably null	Het
Kalrn	G	T	16: 34,177,470 (GRCm39)	Q250K	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naa50	A	G	16: 43,977,494 (GRCm39)	N74S	probably benign	Het
Neb	T	C	2: 52,178,847 (GRCm39)	N1303S	probably benign	Het
Nfs1	A	T	2: 155,976,413 (GRCm39)	C160*	probably null	Het
Or11g7	T	A	14: 50,691,021 (GRCm39)	S171T	probably benign	Het
Or52s1b	T	G	7: 102,822,280 (GRCm39)	K188T	probably damaging	Het
Or5p52	A	G	7: 107,502,833 (GRCm39)	K303R	probably benign	Het
Or6c76	T	C	10: 129,612,709 (GRCm39)	S309P	probably benign	Het
Orm2	T	C	4: 63,281,263 (GRCm39)	F67S	possibly damaging	Het
Pex5	A	G	6: 124,382,142 (GRCm39)	S180P	probably benign	Het
Phf14	G	C	6: 11,992,061 (GRCm39)	G746R	probably damaging	Het
Pkm	T	A	9: 59,575,914 (GRCm39)	V110E	probably damaging	Het
Plekha6	T	G	1: 133,192,425 (GRCm39)	N78K	probably damaging	Het
Plxna2	G	A	1: 194,472,483 (GRCm39)	V1076I	probably benign	Het
Polq	C	A	16: 36,882,181 (GRCm39)	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,994,895 (GRCm39)	T256A	probably benign	Het
Prkch	C	T	12: 73,749,538 (GRCm39)	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,383,168 (GRCm39)		probably benign	Het
Prl7b1	A	C	13: 27,786,755 (GRCm39)	V158G	possibly damaging	Het
Prss22	T	C	17: 24,212,955 (GRCm39)	S261G	probably damaging	Het
Psd	T	C	19: 46,309,541 (GRCm39)		probably benign	Het
Psg18	A	T	7: 18,087,302 (GRCm39)	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,729,993 (GRCm39)	R218S	probably damaging	Het
Rnf213	T	A	11: 119,325,568 (GRCm39)	S1491T		Het
Rsf1	T	C	7: 97,311,132 (GRCm39)	S621P		Het
Runx1	C	A	16: 92,402,544 (GRCm39)	*466L	probably null	Het
Samd4	A	G	14: 47,254,135 (GRCm39)	I200V	probably benign	Het
Sdsl	C	T	5: 120,597,584 (GRCm39)	C241Y	probably benign	Het
Selenon	T	C	4: 134,278,725 (GRCm39)		probably benign	Het
Setx	C	T	2: 29,035,702 (GRCm39)	P729L	possibly damaging	Het
Sf1	C	T	19: 6,418,396 (GRCm39)	Q55*	probably null	Het
Slc12a5	A	T	2: 164,835,611 (GRCm39)	N833I	probably damaging	Het
Slc1a4	T	C	11: 20,282,286 (GRCm39)	R63G	probably damaging	Het
Tmeff2	G	T	1: 51,220,996 (GRCm39)	A324S	probably benign	Het
Tmem217	A	G	17: 29,745,466 (GRCm39)	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,779,115 (GRCm39)	I61N	probably benign	Het
Tpbgl	G	T	7: 99,274,774 (GRCm39)	A361E	probably damaging	Het
Trhde	T	A	10: 114,322,911 (GRCm39)	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568 (GRCm39)	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,507,510 (GRCm39)	C601S	probably benign	Het
Zfp873	C	A	10: 81,896,713 (GRCm39)	H481Q	probably damaging	Het

Other mutations in Lrrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02556:Lrrc1	APN	9	77,342,404 (GRCm39)	missense	probably benign	0.00
IGL02975:Lrrc1	APN	9	77,359,929 (GRCm39)	missense	probably damaging	1.00
IGL03063:Lrrc1	APN	9	77,406,551 (GRCm39)	missense	probably damaging	0.99
G1Funyon:Lrrc1	UTSW	9	77,451,770 (GRCm39)	missense	probably damaging	1.00
R0610:Lrrc1	UTSW	9	77,379,488 (GRCm39)	missense	possibly damaging	0.95
R1462:Lrrc1	UTSW	9	77,349,547 (GRCm39)	missense	probably benign	0.01
R1462:Lrrc1	UTSW	9	77,349,547 (GRCm39)	missense	probably benign	0.01
R1615:Lrrc1	UTSW	9	77,342,400 (GRCm39)	missense	possibly damaging	0.94
R2932:Lrrc1	UTSW	9	77,364,721 (GRCm39)	missense	probably benign	0.01
R5087:Lrrc1	UTSW	9	77,364,740 (GRCm39)	missense	probably benign
R5907:Lrrc1	UTSW	9	77,341,379 (GRCm39)	missense	probably damaging	0.99
R6443:Lrrc1	UTSW	9	77,341,314 (GRCm39)	missense	probably damaging	1.00
R6502:Lrrc1	UTSW	9	77,349,473 (GRCm39)	missense	probably damaging	1.00
R7073:Lrrc1	UTSW	9	77,375,847 (GRCm39)	missense	probably benign	0.04
R7162:Lrrc1	UTSW	9	77,339,472 (GRCm39)	missense	probably benign	0.13
R7177:Lrrc1	UTSW	9	77,379,504 (GRCm39)	nonsense	probably null
R7290:Lrrc1	UTSW	9	77,365,121 (GRCm39)	missense	probably benign	0.01
R7885:Lrrc1	UTSW	9	77,349,471 (GRCm39)	missense	probably damaging	0.97
R8375:Lrrc1	UTSW	9	77,365,129 (GRCm39)	missense	probably damaging	1.00
R8945:Lrrc1	UTSW	9	77,342,373 (GRCm39)	missense	probably damaging	1.00
R9188:Lrrc1	UTSW	9	77,362,487 (GRCm39)	missense	probably benign	0.42
R9225:Lrrc1	UTSW	9	77,359,955 (GRCm39)	missense	probably benign	0.00
R9336:Lrrc1	UTSW	9	77,349,480 (GRCm39)	missense	probably damaging	1.00
R9574:Lrrc1	UTSW	9	77,358,708 (GRCm39)	missense	probably damaging	0.97
RF020:Lrrc1	UTSW	9	77,359,913 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACGTTTCTCCACTAGCCATGTAAC -3'
(R):5'- TTCCTCAGAACGTTCGGGAC -3'

Sequencing Primer
(F):5'- TCCACTAGCCATGTAACTACTTG -3'
(R):5'- AGCTTGGAGCCAGCAAC -3'

Posted On

2020-07-28