Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01554:Lmbrd2'

90686

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lmbrd2

Ensembl Gene

ENSMUSG00000039704

Gene Name

LMBR1 domain containing 2

Synonyms

9930036E21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

IGL01554

Quality Score

Status

Chromosome

Chromosomal Location

9140550-9202483 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9165819 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 260 (Y260C)

Ref Sequence

ENSEMBL: ENSMUSP00000154020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090380] [ENSMUST00000227556]

AlphaFold

Q8C561

Predicted Effect

probably damaging
Transcript: ENSMUST00000090380
AA Change: Y260C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087858
Gene: ENSMUSG00000039704
AA Change: Y260C

Domain	Start	End	E-Value	Type
Pfam:LMBR1	8	546	4.2e-192	PFAM
low complexity region	574	598	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226149

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227556
AA Change: Y260C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	A	G	1: 134,389,958	N156S	probably damaging	Het
Abca8a	T	C	11: 110,042,166	I1211V	probably benign	Het
Adgre4	A	G	17: 55,817,090	S497G	probably damaging	Het
Ankrd55	T	C	13: 112,323,067	M65T	possibly damaging	Het
Ermard	A	G	17: 15,051,593	D338G	possibly damaging	Het
Espl1	T	C	15: 102,313,225	L983P	probably damaging	Het
Ext2	A	C	2: 93,811,949	L192V	probably damaging	Het
Fam189b	A	G	3: 89,185,581	T257A	probably damaging	Het
Fam83b	T	A	9: 76,502,121	Y241F	probably benign	Het
Fbxl12	G	A	9: 20,638,919	P170S	possibly damaging	Het
Fsip2	C	A	2: 82,977,278	P1314T	possibly damaging	Het
Greb1l	A	G	18: 10,522,144	R747G	probably benign	Het
Hspa1a	G	T	17: 34,970,524	P468T	probably damaging	Het
Lamb1	T	C	12: 31,306,977	C1028R	probably damaging	Het
Lcn8	C	T	2: 25,654,186	A40V	possibly damaging	Het
Mex3d	G	T	10: 80,382,035	N449K	possibly damaging	Het
Ncam2	A	G	16: 81,512,935	K438E	possibly damaging	Het
Nudt7	A	G	8: 114,147,885		probably benign	Het
Nup214	C	A	2: 32,051,072	S39*	probably null	Het
Olfr821	T	C	10: 130,034,183	S186P	probably damaging	Het
Olfr866	T	C	9: 20,027,408	I177V	possibly damaging	Het
Opn5	A	G	17: 42,607,198	S58P	probably damaging	Het
Pcsk1	T	A	13: 75,132,307	N750K	probably benign	Het
Pdzrn3	T	C	6: 101,150,541	N1055D	probably damaging	Het
Phf2	T	A	13: 48,805,879	K884*	probably null	Het
Prkdc	A	G	16: 15,652,302	N191S	probably benign	Het
Prpf8	A	T	11: 75,495,646	Q987L	probably damaging	Het
Prrc2c	G	A	1: 162,710,786	P425L	probably damaging	Het
Rab36	T	C	10: 75,050,688	I166T	possibly damaging	Het
Rab3gap1	G	T	1: 127,928,008	L461F	possibly damaging	Het
Rnls	A	T	19: 33,391,099	Y27N	possibly damaging	Het
Sncaip	A	T	18: 52,868,934	I176F	possibly damaging	Het
Tagap	G	A	17: 7,932,948	G322S	probably benign	Het
Tas2r130	C	T	6: 131,630,083	A250T	probably benign	Het
Tgs1	A	G	4: 3,593,632	S507G	probably null	Het
Ttn	T	C	2: 76,875,712		probably benign	Het
Zp2	T	C	7: 120,138,325	K246E	possibly damaging	Het

Other mutations in Lmbrd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Lmbrd2	APN	15	9157295	missense	probably damaging	1.00
IGL00864:Lmbrd2	APN	15	9175210	missense	probably damaging	1.00
IGL02142:Lmbrd2	APN	15	9186685	missense	probably damaging	1.00
IGL02176:Lmbrd2	APN	15	9182574	missense	probably damaging	1.00
IGL02293:Lmbrd2	APN	15	9172189	missense	probably benign
IGL02692:Lmbrd2	APN	15	9149068	missense	possibly damaging	0.94
IGL03101:Lmbrd2	APN	15	9186608	missense	probably damaging	1.00
R0102:Lmbrd2	UTSW	15	9183952	missense	probably damaging	1.00
R0370:Lmbrd2	UTSW	15	9165852	missense	probably damaging	0.97
R0379:Lmbrd2	UTSW	15	9149479	missense	probably benign	0.00
R0513:Lmbrd2	UTSW	15	9194729	missense	probably damaging	1.00
R1610:Lmbrd2	UTSW	15	9186612	missense	probably benign	0.19
R1628:Lmbrd2	UTSW	15	9182506	missense	probably damaging	1.00
R1844:Lmbrd2	UTSW	15	9177751	nonsense	probably null
R2422:Lmbrd2	UTSW	15	9194765	missense	possibly damaging	0.83
R3614:Lmbrd2	UTSW	15	9177711	missense	probably damaging	1.00
R3924:Lmbrd2	UTSW	15	9149537	missense	probably benign
R4014:Lmbrd2	UTSW	15	9151585	splice site	probably benign
R4298:Lmbrd2	UTSW	15	9165795	missense	possibly damaging	0.92
R5126:Lmbrd2	UTSW	15	9194701	missense	possibly damaging	0.91
R5699:Lmbrd2	UTSW	15	9175182	missense	probably benign	0.40
R5841:Lmbrd2	UTSW	15	9182570	missense	possibly damaging	0.94
R5974:Lmbrd2	UTSW	15	9172115	missense	probably benign	0.25
R5988:Lmbrd2	UTSW	15	9182406	splice site	probably null
R6179:Lmbrd2	UTSW	15	9149175	missense	probably damaging	0.99
R6666:Lmbrd2	UTSW	15	9151569	missense	probably benign	0.06
R7180:Lmbrd2	UTSW	15	9175196	missense	possibly damaging	0.90
R7269:Lmbrd2	UTSW	15	9194684	missense	probably damaging	1.00
R7341:Lmbrd2	UTSW	15	9165819	missense	possibly damaging	0.96
R8017:Lmbrd2	UTSW	15	9172230	missense	probably benign	0.00
R8066:Lmbrd2	UTSW	15	9172085	missense	probably benign	0.35
R8110:Lmbrd2	UTSW	15	9175192	missense	probably damaging	1.00
R8393:Lmbrd2	UTSW	15	9178350	missense	probably damaging	1.00
R8401:Lmbrd2	UTSW	15	9156207	missense	possibly damaging	0.85
R8922:Lmbrd2	UTSW	15	9172144	missense	probably damaging	1.00
R9009:Lmbrd2	UTSW	15	9157224	missense	possibly damaging	0.92
R9434:Lmbrd2	UTSW	15	9157227	missense	probably benign	0.05

Posted On

2013-12-09