Mutagenetix > Incidental Mutation

Incidental Mutation 'R1916:Lgi2'

214852

Institutional Source

Beutler Lab

Gene Symbol

Lgi2

Ensembl Gene

ENSMUSG00000039252

Gene Name

leucine-rich repeat LGI family, member 2

Synonyms

MMRRC Submission

039934-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R1916 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52690859-52723689 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52703974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 219 (Q219L)

Ref Sequence

ENSEMBL: ENSMUSP00000040436 (fasta)

Gene Model

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

AlphaFold

Q8K4Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000039750
AA Change: Q219L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040436
Gene: ENSMUSG00000039252
AA Change: Q219L

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

noncoding transcript
Transcript: ENSMUST00000197351

Predicted Effect

probably benign
Transcript: ENSMUST00000199942

SMART Domains

Protein: ENSMUSP00000143707
Gene: ENSMUSG00000039252

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

Validation Efficiency

99% (97/98)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,652,924 (GRCm39)	K121R	possibly damaging	Het
Abca13	G	T	11: 9,484,456 (GRCm39)	W4342L	probably damaging	Het
Abcg8	A	T	17: 84,995,958 (GRCm39)		probably null	Het
Acaa1b	A	G	9: 118,985,730 (GRCm39)	L65P	probably damaging	Het
Adam6a	G	T	12: 113,509,556 (GRCm39)	R643L	probably benign	Het
Agbl2	A	T	2: 90,645,785 (GRCm39)	R839S	possibly damaging	Het
Ambra1	A	T	2: 91,741,806 (GRCm39)	N967I	probably damaging	Het
Ankrd17	T	A	5: 90,408,000 (GRCm39)	N1406Y	probably damaging	Het
Armh4	T	C	14: 50,005,932 (GRCm39)	T588A	probably damaging	Het
Bbx	G	T	16: 50,086,608 (GRCm39)	S96Y	probably damaging	Het
Cdh12	T	A	15: 21,520,336 (GRCm39)		probably null	Het
Cdh9	A	C	15: 16,823,361 (GRCm39)	R114S	probably benign	Het
Cenpo	T	G	12: 4,266,683 (GRCm39)	I142L	probably benign	Het
Cfap69	T	C	5: 5,713,970 (GRCm39)	K21E	probably damaging	Het
Chmp4c	A	T	3: 10,454,996 (GRCm39)	D221V	probably benign	Het
Cstf3	T	A	2: 104,486,101 (GRCm39)	V447D	possibly damaging	Het
Cwc22	A	T	2: 77,735,819 (GRCm39)	C566S	probably benign	Het
Dgkh	A	G	14: 78,832,663 (GRCm39)	M798T	probably damaging	Het
Dnai2	T	C	11: 114,623,749 (GRCm39)	V4A	possibly damaging	Het
Dnai7	A	C	6: 145,121,926 (GRCm39)	V631G	probably benign	Het
Dnmbp	T	G	19: 43,890,007 (GRCm39)	I587L	possibly damaging	Het
Dock6	A	T	9: 21,724,387 (GRCm39)	M301K	probably damaging	Het
Dock8	T	C	19: 25,038,521 (GRCm39)	M69T	probably benign	Het
Ears2	T	C	7: 121,643,801 (GRCm39)	S386G	probably benign	Het
Ecsit	T	C	9: 21,983,817 (GRCm39)	I371V	probably benign	Het
Eif4a3	T	C	11: 119,184,737 (GRCm39)	I216V	probably benign	Het
Emp1	A	G	6: 135,357,128 (GRCm39)	I69V	probably damaging	Het
Epg5	A	G	18: 78,008,236 (GRCm39)	D788G	probably benign	Het
Eps15	A	G	4: 109,226,171 (GRCm39)	K324E	probably damaging	Het
Extl3	A	G	14: 65,315,071 (GRCm39)	F37S	probably benign	Het
Fam83g	A	G	11: 61,585,994 (GRCm39)	D194G	probably damaging	Het
Gcc2	A	G	10: 58,112,485 (GRCm39)	D1005G	probably damaging	Het
Gm10226	T	A	17: 21,910,916 (GRCm39)	H50Q	possibly damaging	Het
Gm1110	A	T	9: 26,800,934 (GRCm39)	V420E	probably damaging	Het
Gm16503	A	G	4: 147,625,667 (GRCm39)	R54G	unknown	Het
Grin3b	T	C	10: 79,810,432 (GRCm39)	M646T	probably damaging	Het
Grm8	T	C	6: 27,363,583 (GRCm39)	D644G	probably benign	Het
Gtf2i	C	A	5: 134,275,702 (GRCm39)	V660F	probably damaging	Het
Heatr4	G	T	12: 84,002,591 (GRCm39)	Q808K	probably benign	Het
Hif3a	T	C	7: 16,773,581 (GRCm39)	S573G	possibly damaging	Het
Htr2b	C	T	1: 86,027,523 (GRCm39)	V328M	probably damaging	Het
Jph1	T	C	1: 17,162,279 (GRCm39)	T128A	probably damaging	Het
Kcnt1	T	C	2: 25,790,481 (GRCm39)	V481A	probably damaging	Het
Khk	A	G	5: 31,087,962 (GRCm39)	Y212C	probably damaging	Het
Lipf	T	A	19: 33,943,075 (GRCm39)	Y128N	probably benign	Het
Lipg	A	G	18: 75,094,008 (GRCm39)	V13A	probably benign	Het
Lrrc8e	T	C	8: 4,285,202 (GRCm39)	S476P	probably benign	Het
Map2k7	T	G	8: 4,295,795 (GRCm39)	V425G	probably benign	Het
Mycbp2	A	T	14: 103,422,319 (GRCm39)	S2451R	probably damaging	Het
Mylk3	A	G	8: 86,053,821 (GRCm39)	S629P	probably damaging	Het
Nrp2	A	T	1: 62,801,906 (GRCm39)	I450F	probably damaging	Het
Or4c126	T	C	2: 89,824,148 (GRCm39)	V137A	probably benign	Het
Or8g50	A	G	9: 39,648,918 (GRCm39)	D269G	probably benign	Het
Osbpl11	T	C	16: 33,006,213 (GRCm39)	S14P	probably benign	Het
Osbpl11	T	A	16: 33,030,465 (GRCm39)	V231D	possibly damaging	Het
Parg	T	A	14: 31,930,184 (GRCm39)		probably benign	Het
Pax9	G	T	12: 56,743,923 (GRCm39)	R190L	possibly damaging	Het
Prss12	G	A	3: 123,300,144 (GRCm39)	V752I	probably benign	Het
Pstpip2	A	G	18: 77,922,892 (GRCm39)	N34S	probably damaging	Het
Rarg	T	C	15: 102,160,880 (GRCm39)	D53G	probably benign	Het
Rbak	T	C	5: 143,161,871 (GRCm39)	K53R	probably damaging	Het
Scgn	A	T	13: 24,162,808 (GRCm39)	S107R	probably damaging	Het
Sema3c	A	G	5: 17,932,399 (GRCm39)	Q634R	probably benign	Het
Serpinh1	A	G	7: 98,998,288 (GRCm39)	L114P	probably damaging	Het
Slc35f4	T	C	14: 49,541,380 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,201,884 (GRCm39)	I617F	probably null	Het
Spata31	C	T	13: 65,070,359 (GRCm39)	R836*	probably null	Het
Spen	A	G	4: 141,199,909 (GRCm39)	L2883P	probably damaging	Het
Stmn3	A	T	2: 180,949,073 (GRCm39)	M140K	possibly damaging	Het
Syn3	A	G	10: 86,190,208 (GRCm39)		probably null	Het
Tamalin	T	C	15: 101,124,850 (GRCm39)		probably benign	Het
Tor4a	A	G	2: 25,085,414 (GRCm39)	V163A	possibly damaging	Het
Ttc12	A	G	9: 49,371,698 (GRCm39)	Y189H	probably damaging	Het
Ubxn7	T	G	16: 32,200,577 (GRCm39)		probably benign	Het
Unc5b	G	A	10: 60,614,027 (GRCm39)	T274I	probably damaging	Het
Upk1b	C	A	16: 38,596,548 (GRCm39)		probably null	Het
Usp18	A	G	6: 121,245,513 (GRCm39)	I296M	probably benign	Het
Usp42	A	G	5: 143,700,811 (GRCm39)	Y1071H	probably damaging	Het
Vil1	A	G	1: 74,457,684 (GRCm39)	T106A	probably benign	Het
Vmn1r42	T	A	6: 89,821,949 (GRCm39)	I207F	probably benign	Het
Vmn1r63	A	G	7: 5,806,225 (GRCm39)	F136L	probably damaging	Het
Vopp1	C	T	6: 57,731,572 (GRCm39)	V140I	probably benign	Het
Wdhd1	T	C	14: 47,496,034 (GRCm39)	D610G	possibly damaging	Het
Wdr48	T	A	9: 119,741,483 (GRCm39)	D142E	probably benign	Het
Whrn	A	G	4: 63,412,969 (GRCm39)	Y10H	probably damaging	Het
Zmat3	A	G	3: 32,397,497 (GRCm39)	V216A	probably benign	Het
Zmym2	C	T	14: 57,197,299 (GRCm39)	R1356W	probably damaging	Het
Zyg11b	A	T	4: 108,129,480 (GRCm39)	L44Q	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
R0633:Lgi2	UTSW	5	52,711,802 (GRCm39)	missense	probably damaging	0.97
R1616:Lgi2	UTSW	5	52,703,980 (GRCm39)	missense	probably benign	0.00
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'- TGGAATGTAGTCCCTGCCTC -3'
(R):5'- AACTGCATGGACCTGACAGTC -3'

Sequencing Primer
(F):5'- ACCTGTGATATTGTCATAACTCCGG -3'
(R):5'- CCTATCTTTCAGAGTCTACAGAGCAG -3'

Posted On

2014-07-14