Mutagenetix > Incidental Mutation

Incidental Mutation 'R1230:Lrig3'

152271

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

039299-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R1230 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125802088-125851228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125838840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 449 (D449G)

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: D449G

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

SMART Domains

Protein: ENSMUSP00000074360
Gene: ENSMUSG00000020105
AA Change: D449G

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: ENSMUST00000217813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220332

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.7%
20x: 90.5%

Validation Efficiency

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc88c	A	T	12: 100,914,747 (GRCm39)	Y496N	probably benign	Het
Cyp11b1	A	G	15: 74,712,791 (GRCm39)	I90T	probably benign	Het
Cyp4f14	C	A	17: 33,135,762 (GRCm39)	R33L	probably benign	Het
Dcc	G	A	18: 71,815,384 (GRCm39)	P330L	probably damaging	Het
Dnm1	T	C	2: 32,205,921 (GRCm39)	N64D	probably damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Ecm1	A	T	3: 95,642,738 (GRCm39)		probably null	Het
Enam	A	G	5: 88,641,927 (GRCm39)	Y247C	probably damaging	Het
Ess2	C	T	16: 17,727,814 (GRCm39)	V122M	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hrc	A	G	7: 44,985,887 (GRCm39)	D346G	possibly damaging	Het
Kdm5b	T	G	1: 134,540,992 (GRCm39)	C695G	probably damaging	Het
Mrps31	C	T	8: 22,909,759 (GRCm39)	P142S	possibly damaging	Het
Ppm1k	T	C	6: 57,502,059 (GRCm39)	T35A	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Vangl1	T	A	3: 102,065,609 (GRCm39)	I509L	probably benign	Het
Vcpip1	A	G	1: 9,795,449 (GRCm39)	V974A	probably damaging	Het
Xdh	T	C	17: 74,198,251 (GRCm39)	E1212G	probably damaging	Het
Zfp62	T	C	11: 49,105,926 (GRCm39)	S6P	probably damaging	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
R0023:Lrig3	UTSW	10	125,846,088 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACAAGGGGAGCGGGCCATTTATTC -3'
(R):5'- CCATCATTTGGACAAAGGAGCGGG -3'

Sequencing Primer
(F):5'- ATCGGTACTTATTCCTCCATAGGAC -3'
(R):5'- GGACAAAGGAGCGGGAAATG -3'

Posted On

2014-01-29