Mutagenetix > Incidental Mutation

Incidental Mutation 'R0633:Lgi2'

58059

Institutional Source

Beutler Lab

Gene Symbol

Lgi2

Ensembl Gene

ENSMUSG00000039252

Gene Name

leucine-rich repeat LGI family, member 2

Synonyms

MMRRC Submission

038822-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0633 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52690859-52723689 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52711802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 173 (Y173H)

Ref Sequence

ENSEMBL: ENSMUSP00000040436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039750] [ENSMUST00000199942]

AlphaFold

Q8K4Z0

Predicted Effect

probably damaging
Transcript: ENSMUST00000039750
AA Change: Y173H

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040436
Gene: ENSMUSG00000039252
AA Change: Y173H

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:LRRNT	32	62	9e-15	BLAST
LRR_TYP	81	104	7.26e-3	SMART
LRR_TYP	105	128	4.72e-2	SMART
LRRCT	140	189	4.49e-4	SMART
Pfam:EPTP	224	265	3.9e-12	PFAM
Pfam:EPTP	270	311	2e-13	PFAM
Pfam:EPTP	316	362	2.1e-16	PFAM
Pfam:EPTP	365	407	2.3e-9	PFAM
Pfam:EPTP	412	454	4.8e-12	PFAM
Pfam:EPTP	457	498	2.7e-14	PFAM
low complexity region	499	509	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199942
AA Change: Y197H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143707
Gene: ENSMUSG00000039252
AA Change: Y197H

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:LRRNT	32	62	7e-15	BLAST
LRR_TYP	81	104	7.26e-3	SMART
LRR_TYP	105	128	4.72e-2	SMART
LRR_TYP	129	152	5.99e-4	SMART
LRRCT	164	213	4.49e-4	SMART
Pfam:EPTP	216	257	5.6e-12	PFAM
Pfam:EPTP	262	303	2.8e-13	PFAM
Pfam:EPTP	308	354	3e-16	PFAM
Pfam:EPTP	357	399	3.3e-9	PFAM
Pfam:EPTP	404	446	6.8e-12	PFAM
Pfam:EPTP	449	490	3.8e-14	PFAM
low complexity region	491	501	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	A	T	9: 30,854,807 (GRCm39)	R18S	probably damaging	Het
Adgb	G	A	10: 10,267,473 (GRCm39)	A923V	probably benign	Het
Aldh1a3	A	G	7: 66,049,970 (GRCm39)	V416A	probably damaging	Het
Alox5	C	T	6: 116,397,345 (GRCm39)	G280R	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Apbb1	C	T	7: 105,208,170 (GRCm39)	V685I	probably damaging	Het
Apc2	C	A	10: 80,143,289 (GRCm39)	A463E	probably damaging	Het
Arhgap21	C	T	2: 20,860,198 (GRCm39)	W1170*	probably null	Het
Atat1	G	A	17: 36,212,315 (GRCm39)	R305C	probably damaging	Het
Brd8dc	A	G	18: 34,719,319 (GRCm39)	V167A	possibly damaging	Het
Cars2	T	C	8: 11,600,511 (GRCm39)	D56G	probably benign	Het
Ccdc202	T	G	14: 96,119,379 (GRCm39)	N45K	probably damaging	Het
Cdc42bpb	T	C	12: 111,311,989 (GRCm39)	I108V	probably damaging	Het
Cftr	T	A	6: 18,305,979 (GRCm39)	I1255K	probably damaging	Het
Ckap5	T	C	2: 91,381,088 (GRCm39)	L148P	probably damaging	Het
Cntn4	A	G	6: 106,656,209 (GRCm39)		probably null	Het
Cpe	G	A	8: 65,062,237 (GRCm39)	P273L	probably damaging	Het
Cpsf7	A	G	19: 10,509,146 (GRCm39)	D19G	probably benign	Het
Ddx25	C	A	9: 35,457,268 (GRCm39)	R349L	probably damaging	Het
Depdc7	T	C	2: 104,553,226 (GRCm39)	D446G	probably benign	Het
Det1	T	A	7: 78,493,683 (GRCm39)	N107I	probably benign	Het
Dock6	A	T	9: 21,755,713 (GRCm39)	D170E	probably benign	Het
Dvl1	C	T	4: 155,942,752 (GRCm39)	L673F	probably damaging	Het
Gucy1b1	A	T	3: 81,952,767 (GRCm39)	I222K	probably benign	Het
Hfm1	T	C	5: 107,065,467 (GRCm39)	T71A	possibly damaging	Het
Ikzf1	A	G	11: 11,719,223 (GRCm39)	E310G	probably damaging	Het
Impg1	T	C	9: 80,301,437 (GRCm39)	E163G	possibly damaging	Het
Itpr2	G	T	6: 146,275,954 (GRCm39)	H426Q	probably damaging	Het
Itpripl2	C	T	7: 118,089,479 (GRCm39)	G360D	probably benign	Het
Kif14	C	T	1: 136,455,043 (GRCm39)	R1572C	probably damaging	Het
L3mbtl3	A	T	10: 26,178,583 (GRCm39)	H568Q	unknown	Het
Lpar5	A	C	6: 125,058,954 (GRCm39)	Y225S	probably benign	Het
Lpin3	A	G	2: 160,745,894 (GRCm39)	H675R	probably damaging	Het
Lrp2	C	A	2: 69,278,464 (GRCm39)	G3963V	probably damaging	Het
Man1a2	G	T	3: 100,591,891 (GRCm39)	D13E	possibly damaging	Het
Map1a	T	C	2: 121,138,495 (GRCm39)	V2753A	probably damaging	Het
Mitf	C	A	6: 97,980,865 (GRCm39)	N97K	probably damaging	Het
Msh2	A	G	17: 87,980,238 (GRCm39)		probably null	Het
Msr1	T	C	8: 40,073,041 (GRCm39)	E170G	probably damaging	Het
Myrip	C	A	9: 120,217,302 (GRCm39)	R79S	probably damaging	Het
Nek10	G	A	14: 14,857,782 (GRCm38)		probably null	Het
Neto1	C	T	18: 86,422,854 (GRCm39)	R104*	probably null	Het
Nom1	A	C	5: 29,656,098 (GRCm39)	K821T	probably damaging	Het
Nrxn1	A	G	17: 91,011,609 (GRCm39)	V340A	probably damaging	Het
Nxpe4	A	T	9: 48,307,897 (GRCm39)	I334F	probably benign	Het
Or1e23	A	G	11: 73,407,753 (GRCm39)	S91P	probably benign	Het
Or2ag1	T	C	7: 106,313,184 (GRCm39)	K235E	probably benign	Het
Or4a74	T	C	2: 89,439,718 (GRCm39)	M243V	probably benign	Het
Or5al7	T	A	2: 85,992,435 (GRCm39)	N286I	probably damaging	Het
Or5b124	T	C	19: 13,610,700 (GRCm39)	V75A	probably damaging	Het
Or8k27	C	T	2: 86,275,473 (GRCm39)	M284I	probably benign	Het
Padi4	A	G	4: 140,484,896 (GRCm39)	S322P	probably damaging	Het
Peli3	A	G	19: 4,991,810 (GRCm39)	Y44H	probably damaging	Het
Prdm4	A	G	10: 85,743,767 (GRCm39)	S163P	probably damaging	Het
Prom2	T	C	2: 127,381,445 (GRCm39)	D227G	probably benign	Het
Ptgfr	C	T	3: 151,507,400 (GRCm39)	R321H	probably benign	Het
Resf1	A	T	6: 149,227,199 (GRCm39)	I82L	probably benign	Het
Rgs3	G	A	4: 62,544,143 (GRCm39)	R136H	probably damaging	Het
Rgsl1	T	G	1: 153,719,853 (GRCm39)	N3T	possibly damaging	Het
Rif1	T	C	2: 52,002,575 (GRCm39)	S2010P	probably benign	Het
Rngtt	T	C	4: 33,368,690 (GRCm39)	F408L	probably damaging	Het
Rtn3	T	G	19: 7,434,958 (GRCm39)	T326P	probably benign	Het
Slc18b1	A	C	10: 23,681,936 (GRCm39)	M167L	probably benign	Het
Slc22a26	A	G	19: 7,765,575 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,989,317 (GRCm39)	D130G	probably damaging	Het
Snap47	A	G	11: 59,319,439 (GRCm39)	V233A	probably benign	Het
Sumf1	A	C	6: 108,121,632 (GRCm39)	Y158D	probably damaging	Het
Tbc1d15	A	T	10: 115,056,215 (GRCm39)	H252Q	probably benign	Het
Thsd7b	T	C	1: 130,116,263 (GRCm39)	S1339P	possibly damaging	Het
Tmem45a2	T	C	16: 56,869,777 (GRCm39)	I56V	probably benign	Het
Ttc21b	A	G	2: 66,066,577 (GRCm39)	S359P	probably benign	Het
Ttc27	T	C	17: 75,036,972 (GRCm39)	I215T	probably benign	Het
Ttn	C	T	2: 76,554,539 (GRCm39)	V30759I	possibly damaging	Het
Vdac3	T	C	8: 23,070,404 (GRCm39)	N168S	probably damaging	Het
Wdr7	T	C	18: 63,998,371 (GRCm39)	V1106A	probably benign	Het
Wrap73	T	A	4: 154,226,948 (GRCm39)	F16Y	probably damaging	Het
Zfat	C	A	15: 68,052,652 (GRCm39)	D381Y	probably damaging	Het

Other mutations in Lgi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Lgi2	APN	5	52,695,463 (GRCm39)	missense	probably benign
IGL01310:Lgi2	APN	5	52,711,807 (GRCm39)	missense	probably benign	0.44
IGL02086:Lgi2	APN	5	52,723,299 (GRCm39)	missense	probably damaging	0.96
IGL03091:Lgi2	APN	5	52,721,307 (GRCm39)	critical splice donor site	probably null
IGL03367:Lgi2	APN	5	52,719,502 (GRCm39)	missense	probably damaging	1.00
IGL03388:Lgi2	APN	5	52,695,819 (GRCm39)	missense	probably damaging	1.00
R0388:Lgi2	UTSW	5	52,711,891 (GRCm39)	missense	probably damaging	0.99
R0602:Lgi2	UTSW	5	52,711,765 (GRCm39)	missense	probably damaging	0.98
R1616:Lgi2	UTSW	5	52,703,980 (GRCm39)	missense	probably benign	0.00
R1916:Lgi2	UTSW	5	52,703,974 (GRCm39)	missense	probably benign
R2072:Lgi2	UTSW	5	52,695,847 (GRCm39)	missense	probably damaging	1.00
R2512:Lgi2	UTSW	5	52,695,307 (GRCm39)	makesense	probably null
R4614:Lgi2	UTSW	5	52,695,775 (GRCm39)	missense	probably damaging	0.99
R4855:Lgi2	UTSW	5	52,695,849 (GRCm39)	missense	probably damaging	1.00
R5092:Lgi2	UTSW	5	52,695,429 (GRCm39)	missense	probably damaging	1.00
R5181:Lgi2	UTSW	5	52,711,792 (GRCm39)	missense	probably damaging	1.00
R5311:Lgi2	UTSW	5	52,711,827 (GRCm39)	missense	probably damaging	0.99
R6074:Lgi2	UTSW	5	52,703,984 (GRCm39)	missense	probably benign
R7089:Lgi2	UTSW	5	52,695,832 (GRCm39)	missense	probably damaging	0.99
R7376:Lgi2	UTSW	5	52,695,604 (GRCm39)	missense	probably damaging	0.99
R7396:Lgi2	UTSW	5	52,695,753 (GRCm39)	missense	probably damaging	1.00
R7733:Lgi2	UTSW	5	52,695,873 (GRCm39)	missense	probably benign	0.03
R8007:Lgi2	UTSW	5	52,723,375 (GRCm39)	missense	probably benign	0.01
R8073:Lgi2	UTSW	5	52,704,013 (GRCm39)	missense	probably benign
R9137:Lgi2	UTSW	5	52,695,361 (GRCm39)	missense	probably damaging	1.00
R9484:Lgi2	UTSW	5	52,695,936 (GRCm39)	missense	probably benign	0.36
R9505:Lgi2	UTSW	5	52,711,775 (GRCm39)	missense	probably benign	0.00
R9723:Lgi2	UTSW	5	52,695,843 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTTGAGATGTTCTCCGAACCCC -3'
(R):5'- accagccagtacaACTAACCAAAGC -3'

Sequencing Primer
(F):5'- tcacttctcaccttcaaccac -3'
(R):5'- ccagtacaACTAACCAAAGCACATC -3'

Posted On

2013-07-11