Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Lrig3'

380196

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

042471-MU

Accession Numbers

Essential gene?

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

Stock #

R4860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125802088-125851228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 125846921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 896 (D896E)

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 benign
Transcript: ENSMUST00000074807
AA Change: D896E

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000074360
Gene: ENSMUSG00000020105
AA Change: D896E

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

0.0611

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

94% (98/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,267 (GRCm39)	S466P	possibly damaging	Het
Ablim1	T	C	19: 57,068,298 (GRCm39)	T267A	probably damaging	Het
Acap2	A	T	16: 30,922,317 (GRCm39)	L724Q	possibly damaging	Het
Acsbg3	A	G	17: 57,195,655 (GRCm39)	N684S	probably benign	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Ajm1	T	C	2: 25,468,765 (GRCm39)	Y382C	probably damaging	Het
Akap9	G	A	5: 4,084,916 (GRCm39)		probably benign	Het
Akr1d1	G	A	6: 37,541,426 (GRCm39)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,220,970 (GRCm39)	R54Q	probably benign	Het
Arhgap45	T	A	10: 79,862,900 (GRCm39)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,078,925 (GRCm39)	N137K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
BC048679	T	C	7: 81,145,468 (GRCm39)	N27D	probably benign	Het
Ccdc78	A	G	17: 26,007,674 (GRCm39)	N237S	probably benign	Het
Cd46	G	A	1: 194,744,704 (GRCm39)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm39)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,313 (GRCm39)	E731G	probably damaging	Het
Cul1	G	T	6: 47,494,080 (GRCm39)	K464N	probably benign	Het
Cul1	T	A	6: 47,494,125 (GRCm39)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,387,006 (GRCm39)	D373E	probably benign	Het
Dhcr7	A	G	7: 143,394,237 (GRCm39)	Q126R	probably benign	Het
Dnd1	C	T	18: 36,899,016 (GRCm39)		probably benign	Het
Dok2	T	C	14: 71,014,956 (GRCm39)	F228L	probably damaging	Het
Dpep3	T	G	8: 106,702,821 (GRCm39)	I314L	probably benign	Het
Eps8	A	G	6: 137,491,293 (GRCm39)	F362L	probably damaging	Het
Espn	G	T	4: 152,223,303 (GRCm39)	R250S	probably damaging	Het
Faf1	A	C	4: 109,600,093 (GRCm39)	N163H	probably damaging	Het
Fcho1	C	T	8: 72,163,125 (GRCm39)	V635I	probably benign	Het
Garin5b	C	T	7: 4,760,468 (GRCm39)		probably null	Het
Gask1b	C	A	3: 79,843,981 (GRCm39)	S36*	probably null	Het
Gm7579	G	A	7: 141,765,645 (GRCm39)	C17Y	unknown	Het
Gpx8	G	T	13: 113,182,042 (GRCm39)	Y130*	probably null	Het
Grm6	C	T	11: 50,755,439 (GRCm39)	T857M	probably benign	Het
Gvin1	A	T	7: 105,762,643 (GRCm39)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,443,881 (GRCm39)	M30K	probably benign	Het
Ilkap	A	G	1: 91,315,105 (GRCm39)		probably benign	Het
Iqub	T	C	6: 24,450,841 (GRCm39)	D586G	probably damaging	Het
Klhl22	G	A	16: 17,594,880 (GRCm39)		silent	Het
Klhl25	T	C	7: 75,516,798 (GRCm39)	I568T	probably benign	Het
Krr1	C	T	10: 111,821,596 (GRCm39)		probably benign	Het
Larp6	A	G	9: 60,645,093 (GRCm39)	E411G	probably damaging	Het
Lepr	A	C	4: 101,646,534 (GRCm39)	I822L	probably benign	Het
Lrp1	C	T	10: 127,389,693 (GRCm39)	G3114D	probably damaging	Het
Lyset	A	T	12: 102,710,314 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,380,543 (GRCm39)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 103,138,485 (GRCm39)	D180G	probably damaging	Het
Matr3	T	A	18: 35,714,693 (GRCm39)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,825,887 (GRCm39)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,319,737 (GRCm39)	R238W	probably benign	Het
Mcrip2	G	T	17: 26,083,621 (GRCm39)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,502,418 (GRCm39)	N1043S	probably damaging	Het
Nbeal2	G	A	9: 110,464,262 (GRCm39)	T1128I	probably benign	Het
Nrg2	T	A	18: 36,329,600 (GRCm39)	Y205F	probably damaging	Het
Nsmce4a	A	T	7: 130,135,321 (GRCm39)		probably benign	Het
Nubp2	A	G	17: 25,103,430 (GRCm39)	M149T	probably benign	Het
Or4d2b	T	A	11: 87,780,051 (GRCm39)	M224L	probably damaging	Het
Or8d6	G	T	9: 39,853,800 (GRCm39)	M81I	probably benign	Het
Or8j3c	T	C	2: 86,253,301 (GRCm39)	T240A	probably damaging	Het
Pax3	A	G	1: 78,169,093 (GRCm39)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,343,135 (GRCm39)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 115,939,391 (GRCm39)	A1649V	probably damaging	Het
Pik3r6	T	A	11: 68,434,879 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,400,774 (GRCm39)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,896,305 (GRCm39)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,892,012 (GRCm39)	T91A	probably benign	Het
Ptger4	G	T	15: 5,272,087 (GRCm39)	N177K	probably benign	Het
Reln	A	G	5: 22,106,749 (GRCm39)	F3207S	probably benign	Het
Rigi	G	T	4: 40,210,000 (GRCm39)	S644R	probably damaging	Het
Ripk4	C	T	16: 97,552,736 (GRCm39)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,343,570 (GRCm39)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 157,916,855 (GRCm39)	Y278*	probably null	Het
Sel1l	A	G	12: 91,798,376 (GRCm39)	L140P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,532,263 (GRCm39)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Slmap	A	T	14: 26,181,364 (GRCm39)	V323E	probably benign	Het
Smim6	T	C	11: 115,804,330 (GRCm39)	V39A	probably benign	Het
Snapc3	C	T	4: 83,383,134 (GRCm39)		probably benign	Het
Sorbs1	T	C	19: 40,325,449 (GRCm39)	T382A	probably benign	Het
Sparc	G	A	11: 55,290,037 (GRCm39)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,786,589 (GRCm39)	F283I	probably damaging	Het
Stil	A	G	4: 114,895,671 (GRCm39)	T586A	probably benign	Het
Tango2	A	G	16: 18,128,765 (GRCm39)		silent	Het
Tbce	T	A	13: 14,194,380 (GRCm39)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Tex55	A	G	16: 38,648,507 (GRCm39)	S201P	probably damaging	Het
Tle4	A	T	19: 14,441,709 (GRCm39)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm39)	F254S	probably damaging	Het
Tubgcp3	T	C	8: 12,699,722 (GRCm39)	K377R	probably benign	Het
Ulk4	G	A	9: 121,079,968 (GRCm39)	T497M	possibly damaging	Het
Ush2a	A	T	1: 188,285,472 (GRCm39)	T2003S	probably benign	Het
Usp53	A	G	3: 122,755,012 (GRCm39)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 11,886,683 (GRCm39)	L98Q	probably damaging	Het
Vmn2r84	T	A	10: 130,221,712 (GRCm39)	D836V	probably damaging	Het
Vps13d	A	G	4: 144,813,731 (GRCm39)	F165L	probably benign	Het
Vstm4	A	G	14: 32,585,742 (GRCm39)	E103G	possibly damaging	Het
Zfp384	G	A	6: 125,007,893 (GRCm39)		silent	Het
Zfp870	A	T	17: 33,102,314 (GRCm39)	C339*	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
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
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
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'- GTGAAGCACGGCTATTGATGG -3'
(R):5'- TGTCTGTCCACAGCATCTAGTC -3'

Sequencing Primer
(F):5'- CACGGCTATTGATGGAATGC -3'
(R):5'- GTCCACAGCATCTAGTCTTTAATAC -3'

Posted On

2016-04-15