Mutagenetix > Incidental Mutation

Incidental Mutation 'R0023:Lrig3'

15187

Institutional Source

Beutler Lab

Gene Symbol

Lrig3

Ensembl Gene

ENSMUSG00000020105

Gene Name

leucine-rich repeats and immunoglobulin-like domains 3

Synonyms

9430095K15Rik, 9030421L11Rik, 9130004I02Rik

MMRRC Submission

038318-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R0023 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

125802088-125851228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 125846088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 839 (D839A)

Ref Sequence

ENSEMBL: ENSMUSP00000074360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074807]

AlphaFold

Q6P1C6

PDB Structure

Crystal structure of an Immunoglobulin I-set domain of Lrig3 protein (Lrig3) from MUS MUSCULUS at 1.70 A resolution [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000074807
AA Change: D839A

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

SMART Domains

Protein: ENSMUSP00000074360
Gene: ENSMUSG00000020105
AA Change: D839A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
LRRNT	46	78	6.74e-2	SMART
LRR	72	96	4.45e1	SMART
LRR	97	120	1.06e1	SMART
LRR	144	166	1.14e0	SMART
LRR	168	189	1.62e2	SMART
LRR	190	214	1.09e1	SMART
LRR	215	237	1.71e1	SMART
LRR	238	261	2.29e0	SMART
LRR	262	285	3.07e-1	SMART
LRR	286	309	2.49e-1	SMART
LRR	310	333	1.29e1	SMART
LRR	334	357	6.22e0	SMART
LRR	358	384	6.05e0	SMART
LRR_TYP	385	408	1.56e-2	SMART
LRR_TYP	409	432	1.79e-2	SMART
LRRCT	444	494	2.35e-7	SMART
IGc2	511	588	1.65e-4	SMART
IGc2	615	683	1.33e-8	SMART
IGc2	709	774	2.78e-11	SMART
transmembrane domain	805	827	N/A	INTRINSIC
low complexity region	1069	1081	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220332

Meta Mutation Damage Score

0.0967

Coding Region Coverage

1x: 78.2%
3x: 67.5%
10x: 40.9%
20x: 21.9%

Validation Efficiency

89% (77/87)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele or severely hypomorphic gene trap allele exhibit fusion of the lateral semicircular canal and circling behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	A	C	4: 144,255,567 (GRCm39)	D329A	probably damaging	Het
Abcc12	T	A	8: 87,264,962 (GRCm39)	H661L	probably damaging	Het
Acsbg2	C	G	17: 57,154,710 (GRCm39)	A481P	probably damaging	Het
Aknad1	T	A	3: 108,688,501 (GRCm39)	C610S	probably benign	Het
Anapc1	T	A	2: 128,520,138 (GRCm39)	K226N	probably damaging	Het
Aqp11	A	T	7: 97,375,896 (GRCm39)	I251N	possibly damaging	Het
Arid1a	G	T	4: 133,418,487 (GRCm39)	T1032K	unknown	Het
Atg16l1	T	C	1: 87,717,187 (GRCm39)	V538A	probably benign	Het
Atp7b	A	T	8: 22,501,089 (GRCm39)	L938Q	probably damaging	Het
Bbs1	C	T	19: 4,956,042 (GRCm39)	A44T	probably damaging	Het
Btbd9	A	T	17: 30,749,188 (GRCm39)	V42E	probably damaging	Het
Carmil3	C	G	14: 55,730,333 (GRCm39)	S15R	probably damaging	Het
Cfap44	T	A	16: 44,241,583 (GRCm39)	F651L	probably benign	Het
Clcn3	A	T	8: 61,386,104 (GRCm39)		probably benign	Het
Copb1	A	T	7: 113,849,329 (GRCm39)	D91E	probably benign	Het
Ctr9	G	A	7: 110,643,154 (GRCm39)	A509T	possibly damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Emc1	A	G	4: 139,098,320 (GRCm39)	D767G	probably damaging	Het
Fads1	G	A	19: 10,164,261 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,852,837 (GRCm39)	K1375E	probably benign	Het
Frrs1	T	C	3: 116,690,437 (GRCm39)	F27L	probably damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Macf1	A	T	4: 123,382,107 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,816 (GRCm39)	V789A	possibly damaging	Het
Nasp	A	G	4: 116,462,968 (GRCm39)		probably benign	Het
Nsmaf	A	G	4: 6,408,680 (GRCm39)	Y700H	probably damaging	Het
Plekhs1	T	G	19: 56,466,948 (GRCm39)	S260A	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
R3hdm1	T	C	1: 128,138,929 (GRCm39)		probably benign	Het
Rtcb	A	T	10: 85,785,315 (GRCm39)		probably benign	Het
Suco	A	T	1: 161,673,154 (GRCm39)		probably null	Het
Synrg	G	T	11: 83,899,479 (GRCm39)	D562Y	probably damaging	Het
Tfip11	T	C	5: 112,479,875 (GRCm39)	S265P	possibly damaging	Het
Ucp3	G	T	7: 100,134,250 (GRCm39)	V288L	probably benign	Het
Xylt1	G	T	7: 117,233,928 (GRCm39)	G485V	probably damaging	Het
Yars1	A	G	4: 129,090,981 (GRCm39)	T130A	probably benign	Het
Zfp652	A	T	11: 95,644,295 (GRCm39)	R205*	probably null	Het

Other mutations in Lrig3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Lrig3	APN	10	125,849,017 (GRCm39)	missense	probably benign	0.00
IGL00426:Lrig3	APN	10	125,808,006 (GRCm39)	nonsense	probably null
IGL00969:Lrig3	APN	10	125,832,984 (GRCm39)	missense	probably damaging	1.00
IGL01376:Lrig3	APN	10	125,830,335 (GRCm39)	missense	probably benign	0.01
IGL01510:Lrig3	APN	10	125,844,567 (GRCm39)	missense	probably damaging	1.00
IGL01825:Lrig3	APN	10	125,845,886 (GRCm39)	missense	probably damaging	0.98
IGL02231:Lrig3	APN	10	125,833,041 (GRCm39)	missense	probably damaging	1.00
IGL02377:Lrig3	APN	10	125,850,743 (GRCm39)	missense	probably benign	0.00
IGL02648:Lrig3	APN	10	125,802,463 (GRCm39)	missense	probably benign
IGL02832:Lrig3	APN	10	125,842,871 (GRCm39)	missense	probably benign	0.37
IGL03266:Lrig3	APN	10	125,849,151 (GRCm39)	missense	probably benign	0.28
R0129:Lrig3	UTSW	10	125,842,812 (GRCm39)	missense	probably damaging	1.00
R0183:Lrig3	UTSW	10	125,846,061 (GRCm39)	missense	probably damaging	1.00
R0226:Lrig3	UTSW	10	125,807,986 (GRCm39)	splice site	probably benign
R0233:Lrig3	UTSW	10	125,849,395 (GRCm39)	splice site	probably null
R0233:Lrig3	UTSW	10	125,849,395 (GRCm39)	splice site	probably null
R0336:Lrig3	UTSW	10	125,802,574 (GRCm39)	missense	probably benign	0.04
R0348:Lrig3	UTSW	10	125,849,317 (GRCm39)	nonsense	probably null
R0502:Lrig3	UTSW	10	125,844,605 (GRCm39)	missense	probably damaging	1.00
R0639:Lrig3	UTSW	10	125,846,090 (GRCm39)	missense	probably damaging	1.00
R1099:Lrig3	UTSW	10	125,842,883 (GRCm39)	splice site	probably null
R1220:Lrig3	UTSW	10	125,832,945 (GRCm39)	missense	probably damaging	1.00
R1230:Lrig3	UTSW	10	125,838,840 (GRCm39)	missense	probably damaging	1.00
R1398:Lrig3	UTSW	10	125,838,957 (GRCm39)	missense	probably benign	0.00
R1451:Lrig3	UTSW	10	125,845,926 (GRCm39)	missense	possibly damaging	0.92
R1523:Lrig3	UTSW	10	125,844,567 (GRCm39)	missense	probably damaging	1.00
R1545:Lrig3	UTSW	10	125,844,416 (GRCm39)	missense	possibly damaging	0.80
R1661:Lrig3	UTSW	10	125,833,570 (GRCm39)	missense	probably benign	0.12
R1665:Lrig3	UTSW	10	125,833,570 (GRCm39)	missense	probably benign	0.12
R1673:Lrig3	UTSW	10	125,846,036 (GRCm39)	missense	probably damaging	1.00
R1778:Lrig3	UTSW	10	125,845,944 (GRCm39)	missense	probably damaging	1.00
R1800:Lrig3	UTSW	10	125,832,920 (GRCm39)	splice site	probably null
R1840:Lrig3	UTSW	10	125,849,258 (GRCm39)	nonsense	probably null
R1882:Lrig3	UTSW	10	125,845,694 (GRCm39)	missense	possibly damaging	0.89
R1900:Lrig3	UTSW	10	125,838,262 (GRCm39)	splice site	probably benign
R2160:Lrig3	UTSW	10	125,833,565 (GRCm39)	missense	possibly damaging	0.95
R2200:Lrig3	UTSW	10	125,832,478 (GRCm39)	splice site	probably null
R2294:Lrig3	UTSW	10	125,802,363 (GRCm39)	nonsense	probably null
R2518:Lrig3	UTSW	10	125,830,310 (GRCm39)	missense	probably benign	0.07
R3037:Lrig3	UTSW	10	125,845,901 (GRCm39)	missense	probably damaging	1.00
R3236:Lrig3	UTSW	10	125,833,056 (GRCm39)	missense	probably damaging	1.00
R4073:Lrig3	UTSW	10	125,849,277 (GRCm39)	missense	probably benign
R4074:Lrig3	UTSW	10	125,849,277 (GRCm39)	missense	probably benign
R4075:Lrig3	UTSW	10	125,849,277 (GRCm39)	missense	probably benign
R4077:Lrig3	UTSW	10	125,845,656 (GRCm39)	missense	probably damaging	1.00
R4079:Lrig3	UTSW	10	125,845,656 (GRCm39)	missense	probably damaging	1.00
R4405:Lrig3	UTSW	10	125,846,877 (GRCm39)	missense	probably benign	0.00
R4425:Lrig3	UTSW	10	125,849,273 (GRCm39)	missense	probably benign	0.00
R4505:Lrig3	UTSW	10	125,849,216 (GRCm39)	missense	probably benign	0.00
R4860:Lrig3	UTSW	10	125,846,921 (GRCm39)	missense	probably benign	0.36
R4860:Lrig3	UTSW	10	125,846,921 (GRCm39)	missense	probably benign	0.36
R4903:Lrig3	UTSW	10	125,832,482 (GRCm39)	critical splice acceptor site	probably null
R5201:Lrig3	UTSW	10	125,849,020 (GRCm39)	missense	possibly damaging	0.48
R5307:Lrig3	UTSW	10	125,842,559 (GRCm39)	missense	probably damaging	1.00
R5402:Lrig3	UTSW	10	125,844,609 (GRCm39)	missense	probably damaging	1.00
R5557:Lrig3	UTSW	10	125,808,003 (GRCm39)	missense	probably damaging	1.00
R5792:Lrig3	UTSW	10	125,845,788 (GRCm39)	missense	probably damaging	1.00
R5903:Lrig3	UTSW	10	125,844,347 (GRCm39)	missense	probably damaging	1.00
R6280:Lrig3	UTSW	10	125,846,848 (GRCm39)	missense	probably benign	0.18
R6484:Lrig3	UTSW	10	125,832,478 (GRCm39)	splice site	probably null
R6985:Lrig3	UTSW	10	125,850,738 (GRCm39)	missense	possibly damaging	0.64
R7089:Lrig3	UTSW	10	125,832,993 (GRCm39)	missense	probably damaging	1.00
R7177:Lrig3	UTSW	10	125,842,712 (GRCm39)	missense	probably benign	0.02
R7347:Lrig3	UTSW	10	125,845,835 (GRCm39)	missense	probably damaging	1.00
R9093:Lrig3	UTSW	10	125,845,950 (GRCm39)	missense	possibly damaging	0.51
R9188:Lrig3	UTSW	10	125,838,935 (GRCm39)	missense	possibly damaging	0.80
R9295:Lrig3	UTSW	10	125,850,722 (GRCm39)	missense	probably benign	0.00
R9378:Lrig3	UTSW	10	125,832,953 (GRCm39)	missense	probably damaging	0.98
R9526:Lrig3	UTSW	10	125,850,736 (GRCm39)	missense	probably benign
R9567:Lrig3	UTSW	10	125,845,964 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-12