Mutagenetix > Incidental Mutation

Incidental Mutation 'R8204:Lancl2'

635807

Institutional Source

Beutler Lab

Gene Symbol

Lancl2

Ensembl Gene

ENSMUSG00000062190

Gene Name

LanC (bacterial lantibiotic synthetase component C)-like 2

Synonyms

1700003F10Rik

MMRRC Submission

067627-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8204 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57679525-57716424 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57714701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 440 (P440Q)

Ref Sequence

ENSEMBL: ENSMUSP00000052146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050077] [ENSMUST00000072954] [ENSMUST00000127485] [ENSMUST00000153777]

AlphaFold

Q9JJK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000050077
AA Change: P440Q

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

SMART Domains

Protein: ENSMUSP00000052146
Gene: ENSMUSG00000062190
AA Change: P440Q

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
LANC_like	96	444	2.51e-148	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000072954
AA Change: P440Q

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

SMART Domains

Protein: ENSMUSP00000072723
Gene: ENSMUSG00000062190
AA Change: P440Q

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
LANC_like	96	444	2.51e-148	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127485

SMART Domains

Protein: ENSMUSP00000115377
Gene: ENSMUSG00000037788

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:WBP-1	37	106	7e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153777
AA Change: P431Q

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

SMART Domains

Protein: ENSMUSP00000121377
Gene: ENSMUSG00000062190
AA Change: P431Q

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
LANC_like	87	435	2.51e-148	SMART

Meta Mutation Damage Score

0.9520

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,057,606 (GRCm39)	R731H	probably benign	Het
Arpp21	T	A	9: 111,965,638 (GRCm39)	Y408F	noncoding transcript	Het
Atr	T	C	9: 95,817,566 (GRCm39)	S2086P		Het
BC034090	C	A	1: 155,117,488 (GRCm39)	G210V	probably damaging	Het
Cdk6	A	G	5: 3,394,461 (GRCm39)	D32G	probably damaging	Het
Cep126	C	T	9: 8,120,781 (GRCm39)	E81K	probably damaging	Het
Cep20	T	C	16: 14,118,070 (GRCm39)	D150G	probably benign	Het
Clec4d	T	A	6: 123,242,323 (GRCm39)	V25D	probably damaging	Het
Cox8a	A	G	19: 7,192,845 (GRCm39)	I40T	probably benign	Het
Dlg5	A	G	14: 24,210,320 (GRCm39)	L792P	probably damaging	Het
Egln3	T	C	12: 54,250,010 (GRCm39)	Y113C	probably benign	Het
Exoc6b	C	T	6: 84,832,504 (GRCm39)	V397M	probably damaging	Het
Fat2	A	T	11: 55,175,436 (GRCm39)	L1759Q	probably benign	Het
Flg2	T	A	3: 93,110,074 (GRCm39)	S701T	unknown	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Git1	G	A	11: 77,396,161 (GRCm39)	D551N	probably benign	Het
Gpr137	C	T	19: 6,917,746 (GRCm39)	A21T	probably benign	Het
Grk3	A	G	5: 113,105,225 (GRCm39)	F171L	probably benign	Het
Hk1	A	G	10: 62,132,523 (GRCm39)	F175S	probably damaging	Het
Hoxc13	A	G	15: 102,835,795 (GRCm39)	N308D	probably damaging	Het
Itga9	A	G	9: 118,700,989 (GRCm39)	N924S	probably damaging	Het
Katnip	C	T	7: 125,449,914 (GRCm39)	R993C	probably damaging	Het
Klhl20	T	C	1: 160,934,414 (GRCm39)	M202V	probably benign	Het
Krtap19-9a	C	T	16: 88,720,996 (GRCm39)	G37D	noncoding transcript	Het
Lrba	T	C	3: 86,222,710 (GRCm39)	I608T	possibly damaging	Het
Lrtm2	T	A	6: 119,294,369 (GRCm39)	E254V	probably benign	Het
Magi3	A	T	3: 103,958,502 (GRCm39)	C528S	probably benign	Het
Mast3	T	C	8: 71,240,925 (GRCm39)	D224G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myrip	G	A	9: 120,262,045 (GRCm39)		probably null	Het
Or4f54	A	G	2: 111,123,485 (GRCm39)	R291G	probably damaging	Het
Or5af2	A	C	11: 58,707,885 (GRCm39)	D17A	probably benign	Het
Plekhg6	C	T	6: 125,340,461 (GRCm39)	R633H	probably damaging	Het
Ppp1r7	T	C	1: 93,292,733 (GRCm39)	V344A	possibly damaging	Het
Ppp2r1a	A	G	17: 21,177,035 (GRCm39)	E191G	probably benign	Het
Prkag2	T	C	5: 25,074,125 (GRCm39)		probably null	Het
Pyroxd2	A	T	19: 42,737,827 (GRCm39)	V48E	probably benign	Het
Sacs	T	C	14: 61,450,397 (GRCm39)	S4148P	probably damaging	Het
Sh3tc2	T	C	18: 62,086,200 (GRCm39)	F5S	probably damaging	Het
Skint8	T	C	4: 111,796,090 (GRCm39)	S255P	probably benign	Het
Tacc2	A	T	7: 130,226,159 (GRCm39)	Q948L	probably damaging	Het
Tcerg1	T	A	18: 42,707,618 (GRCm39)	L1046Q	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tfcp2	G	T	15: 100,420,329 (GRCm39)	Q169K	possibly damaging	Het
Tpp1	A	T	7: 105,399,522 (GRCm39)	L82Q	probably damaging	Het
Trpc7	A	G	13: 56,931,609 (GRCm39)	S697P	probably benign	Het
Vmn1r55	A	T	7: 5,150,285 (GRCm39)	I46N	possibly damaging	Het
Wdfy3	A	G	5: 102,000,451 (GRCm39)	V2973A	probably benign	Het
Xrcc1	T	C	7: 24,271,709 (GRCm39)	V564A	possibly damaging	Het

Other mutations in Lancl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Lancl2	APN	6	57,701,522 (GRCm39)	splice site	probably benign
IGL00469:Lancl2	APN	6	57,711,011 (GRCm39)	missense	probably damaging	1.00
IGL00568:Lancl2	APN	6	57,700,470 (GRCm39)	splice site	probably benign
IGL01527:Lancl2	APN	6	57,709,307 (GRCm39)	missense	probably damaging	0.99
IGL02086:Lancl2	APN	6	57,711,024 (GRCm39)	missense	probably damaging	1.00
R0309:Lancl2	UTSW	6	57,680,117 (GRCm39)	missense	probably damaging	1.00
R4202:Lancl2	UTSW	6	57,689,977 (GRCm39)	missense	probably benign	0.02
R4468:Lancl2	UTSW	6	57,690,019 (GRCm39)	missense	probably damaging	1.00
R4469:Lancl2	UTSW	6	57,690,019 (GRCm39)	missense	probably damaging	1.00
R4729:Lancl2	UTSW	6	57,714,697 (GRCm39)	missense	probably damaging	1.00
R4823:Lancl2	UTSW	6	57,709,262 (GRCm39)	missense	probably damaging	1.00
R5296:Lancl2	UTSW	6	57,701,567 (GRCm39)	missense	probably benign	0.05
R5615:Lancl2	UTSW	6	57,699,496 (GRCm39)	missense	probably damaging	1.00
R6619:Lancl2	UTSW	6	57,699,566 (GRCm39)	missense	probably damaging	0.98
R6784:Lancl2	UTSW	6	57,680,240 (GRCm39)	missense	probably benign
R6873:Lancl2	UTSW	6	57,699,642 (GRCm39)	missense	possibly damaging	0.86
R7363:Lancl2	UTSW	6	57,699,664 (GRCm39)	missense	probably benign	0.00
R8018:Lancl2	UTSW	6	57,690,078 (GRCm39)	missense	probably damaging	1.00
R9212:Lancl2	UTSW	6	57,714,673 (GRCm39)	missense	probably benign
R9794:Lancl2	UTSW	6	57,714,708 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GATGGTACTTTCCTTATGTCCTTACAG -3'
(R):5'- CGCTGTCACAGAATGCTGATG -3'

Sequencing Primer
(F):5'- CTTACAGCCCCTGGTAATGGAAG -3'
(R):5'- GCTGATGACATGATTTCTATCGC -3'

Posted On

2020-07-13