Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02199:Lamb2'

284217

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lamb2

Ensembl Gene

ENSMUSG00000052911

Gene Name

laminin, beta 2

Synonyms

Lams, npht, Lamb-2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.854) question?

Stock #

IGL02199

Quality Score

Status

Chromosome

Chromosomal Location

108357080-108367729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108357824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 116 (T116A)

Ref Sequence

ENSEMBL: ENSMUSP00000069087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065014] [ENSMUST00000194147] [ENSMUST00000195058] [ENSMUST00000195483]

AlphaFold

Q61292

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065014
AA Change: T116A

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000069087
Gene: ENSMUSG00000052911
AA Change: T116A

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
LamNT	44	284	1.9e-102	SMART
EGF_Lam	286	347	1.34e-6	SMART
EGF_Lam	350	410	6.1e-10	SMART
EGF_Lam	413	470	2.98e-13	SMART
EGF_Lam	473	522	7.93e-9	SMART
EGF_Lam	525	569	1.01e-10	SMART
EGF_Lam	784	829	3.42e-13	SMART
EGF_Lam	832	875	6.54e-10	SMART
EGF_Lam	878	925	1.34e-6	SMART
EGF_Lam	928	984	4.74e-7	SMART
EGF_Lam	987	1036	1.53e-10	SMART
EGF_Lam	1039	1093	6.29e-12	SMART
EGF_Lam	1096	1141	1.79e-7	SMART
EGF_Lam	1144	1188	6.64e-11	SMART
coiled coil region	1261	1299	N/A	INTRINSIC
low complexity region	1445	1458	N/A	INTRINSIC
coiled coil region	1473	1527	N/A	INTRINSIC
low complexity region	1609	1625	N/A	INTRINSIC
SCOP:d1eq1a_	1632	1786	5e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191864

Predicted Effect

probably benign
Transcript: ENSMUST00000194147

SMART Domains

Protein: ENSMUSP00000141562
Gene: ENSMUSG00000052911

Domain	Start	End	E-Value	Type
low complexity region	59	79	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195058

SMART Domains

Protein: ENSMUSP00000141757
Gene: ENSMUSG00000052911

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
Pfam:Laminin_N	50	102	6.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195483
AA Change: T116A

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142304
Gene: ENSMUSG00000052911
AA Change: T116A

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
LamNT	44	125	3e-3	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit small size, severe proteinuria due to a defect in glomerular filtration, abnormalities of the retina and skeletal neuromuscular synapses, and lethality by 30 days of age. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(2) Gene trapped(3)

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxr2	A	C	5: 98,125,454 (GRCm39)		probably null	Het
Aspg	T	C	12: 112,087,426 (GRCm39)	V294A	probably benign	Het
Brms1l	A	G	12: 55,907,957 (GRCm39)		probably benign	Het
Celf5	T	A	10: 81,318,318 (GRCm39)	D41V	possibly damaging	Het
Clcn3	T	A	8: 61,386,126 (GRCm39)	K282*	probably null	Het
Clcn3	T	A	8: 61,380,308 (GRCm39)	T543S	possibly damaging	Het
Ctsj	T	A	13: 61,150,351 (GRCm39)	N216I	probably damaging	Het
Dusp28	A	G	1: 92,835,280 (GRCm39)		probably benign	Het
Fbp1	A	G	13: 63,015,193 (GRCm39)	I262T	probably damaging	Het
Gata4	A	G	14: 63,437,912 (GRCm39)	V413A	possibly damaging	Het
Glb1	A	G	9: 114,303,015 (GRCm39)	N617S	probably benign	Het
Gm454	T	A	5: 138,202,285 (GRCm39)		noncoding transcript	Het
Hesx1	A	G	14: 26,723,481 (GRCm39)	S104G	probably benign	Het
Igf2bp3	T	C	6: 49,065,458 (GRCm39)	N478S	probably benign	Het
Klrk1	T	C	6: 129,598,207 (GRCm39)		probably null	Het
Mbd2	T	C	18: 70,726,371 (GRCm39)	V270A	probably damaging	Het
Meis2	C	T	2: 115,830,737 (GRCm39)	V259I	probably benign	Het
Mtcl2	A	T	2: 156,872,865 (GRCm39)	L882Q	probably damaging	Het
Ngly1	T	A	14: 16,290,844 (GRCm38)	I442K	probably damaging	Het
Nrxn1	A	G	17: 90,344,686 (GRCm39)	L409P	probably damaging	Het
Otog	G	A	7: 45,926,775 (GRCm39)	V1175I	possibly damaging	Het
Parp12	C	T	6: 39,073,524 (GRCm39)	A434T	probably benign	Het
Prrt3	G	A	6: 113,471,770 (GRCm39)	P801S	probably damaging	Het
Rps6ka2	G	T	17: 7,521,852 (GRCm39)		probably benign	Het
Slc18a1	C	A	8: 69,496,632 (GRCm39)	V344L	probably benign	Het
Spg11	T	A	2: 121,890,034 (GRCm39)	T2103S	probably damaging	Het
Stoml2	A	G	4: 43,029,366 (GRCm39)		probably benign	Het
Tshr	T	G	12: 91,505,057 (GRCm39)	L73R	probably damaging	Het
Ylpm1	C	T	12: 85,080,779 (GRCm39)	Q786*	probably null	Het

Other mutations in Lamb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Lamb2	APN	9	108,364,932 (GRCm39)	splice site	probably null
IGL02072:Lamb2	APN	9	108,359,107 (GRCm39)	nonsense	probably null
IGL02079:Lamb2	APN	9	108,359,312 (GRCm39)	missense	probably damaging	1.00
IGL02087:Lamb2	APN	9	108,364,318 (GRCm39)	missense	possibly damaging	0.95
IGL02193:Lamb2	APN	9	108,366,559 (GRCm39)	missense	probably benign	0.00
IGL02201:Lamb2	APN	9	108,364,741 (GRCm39)	missense	probably damaging	1.00
IGL02468:Lamb2	APN	9	108,364,348 (GRCm39)	missense	probably damaging	1.00
F6893:Lamb2	UTSW	9	108,359,755 (GRCm39)	missense	probably benign	0.12
R0053:Lamb2	UTSW	9	108,363,936 (GRCm39)	nonsense	probably null
R0053:Lamb2	UTSW	9	108,363,936 (GRCm39)	nonsense	probably null
R0122:Lamb2	UTSW	9	108,363,713 (GRCm39)	missense	probably benign	0.01
R0452:Lamb2	UTSW	9	108,363,553 (GRCm39)	unclassified	probably benign
R0524:Lamb2	UTSW	9	108,361,571 (GRCm39)	missense	possibly damaging	0.90
R0605:Lamb2	UTSW	9	108,363,304 (GRCm39)	unclassified	probably benign
R0737:Lamb2	UTSW	9	108,360,993 (GRCm39)	missense	probably benign	0.03
R1083:Lamb2	UTSW	9	108,360,892 (GRCm39)	missense	probably benign
R1159:Lamb2	UTSW	9	108,358,607 (GRCm39)	missense	probably damaging	1.00
R1283:Lamb2	UTSW	9	108,359,007 (GRCm39)	missense	possibly damaging	0.46
R1507:Lamb2	UTSW	9	108,367,581 (GRCm39)	missense	probably damaging	1.00
R1547:Lamb2	UTSW	9	108,359,824 (GRCm39)	missense	probably benign	0.00
R1576:Lamb2	UTSW	9	108,357,506 (GRCm39)	missense	probably damaging	0.96
R1647:Lamb2	UTSW	9	108,358,622 (GRCm39)	critical splice donor site	probably null
R1678:Lamb2	UTSW	9	108,360,885 (GRCm39)	critical splice acceptor site	probably null
R1740:Lamb2	UTSW	9	108,359,127 (GRCm39)	missense	probably damaging	1.00
R1803:Lamb2	UTSW	9	108,365,298 (GRCm39)	missense	probably benign
R1846:Lamb2	UTSW	9	108,364,586 (GRCm39)	missense	probably benign	0.00
R1863:Lamb2	UTSW	9	108,358,583 (GRCm39)	missense	probably benign	0.13
R2184:Lamb2	UTSW	9	108,357,752 (GRCm39)	missense	probably damaging	1.00
R2262:Lamb2	UTSW	9	108,357,809 (GRCm39)	missense	probably damaging	1.00
R2338:Lamb2	UTSW	9	108,359,340 (GRCm39)	missense	probably benign	0.20
R2483:Lamb2	UTSW	9	108,357,758 (GRCm39)	missense	probably damaging	1.00
R4084:Lamb2	UTSW	9	108,365,217 (GRCm39)	missense	probably benign	0.17
R4164:Lamb2	UTSW	9	108,367,497 (GRCm39)	missense	probably damaging	1.00
R4295:Lamb2	UTSW	9	108,363,410 (GRCm39)	missense	probably benign	0.42
R4422:Lamb2	UTSW	9	108,360,754 (GRCm39)	missense	probably damaging	0.99
R4497:Lamb2	UTSW	9	108,363,997 (GRCm39)	missense	probably damaging	1.00
R4880:Lamb2	UTSW	9	108,361,226 (GRCm39)	splice site	probably null
R4935:Lamb2	UTSW	9	108,364,700 (GRCm39)	missense	possibly damaging	0.93
R4977:Lamb2	UTSW	9	108,364,846 (GRCm39)	missense	probably damaging	0.99
R5152:Lamb2	UTSW	9	108,364,937 (GRCm39)	missense	probably benign
R5499:Lamb2	UTSW	9	108,365,001 (GRCm39)	missense	possibly damaging	0.50
R5724:Lamb2	UTSW	9	108,357,950 (GRCm39)	splice site	probably null
R5932:Lamb2	UTSW	9	108,357,810 (GRCm39)	missense	probably damaging	1.00
R5997:Lamb2	UTSW	9	108,357,587 (GRCm39)	missense	possibly damaging	0.65
R6052:Lamb2	UTSW	9	108,364,811 (GRCm39)	nonsense	probably null
R6142:Lamb2	UTSW	9	108,362,817 (GRCm39)	nonsense	probably null
R6245:Lamb2	UTSW	9	108,365,398 (GRCm39)	splice site	probably null
R6531:Lamb2	UTSW	9	108,360,925 (GRCm39)	missense	possibly damaging	0.78
R6557:Lamb2	UTSW	9	108,365,599 (GRCm39)	missense	probably damaging	1.00
R6562:Lamb2	UTSW	9	108,364,207 (GRCm39)	missense	possibly damaging	0.56
R6997:Lamb2	UTSW	9	108,358,496 (GRCm39)	missense	probably damaging	1.00
R7024:Lamb2	UTSW	9	108,366,687 (GRCm39)	missense	probably benign	0.00
R7116:Lamb2	UTSW	9	108,364,522 (GRCm39)	missense	probably damaging	1.00
R7146:Lamb2	UTSW	9	108,361,283 (GRCm39)	missense	possibly damaging	0.94
R7261:Lamb2	UTSW	9	108,358,496 (GRCm39)	missense	probably damaging	1.00
R7288:Lamb2	UTSW	9	108,365,523 (GRCm39)	missense	probably benign	0.20
R7404:Lamb2	UTSW	9	108,364,782 (GRCm39)	missense	probably damaging	1.00
R7456:Lamb2	UTSW	9	108,362,979 (GRCm39)	missense	possibly damaging	0.95
R7472:Lamb2	UTSW	9	108,363,347 (GRCm39)	missense	probably benign	0.01
R7623:Lamb2	UTSW	9	108,366,423 (GRCm39)	missense	possibly damaging	0.62
R8125:Lamb2	UTSW	9	108,364,722 (GRCm39)	missense	probably benign
R8153:Lamb2	UTSW	9	108,357,845 (GRCm39)	missense	probably damaging	0.99
R8154:Lamb2	UTSW	9	108,357,845 (GRCm39)	missense	probably damaging	0.99
R8155:Lamb2	UTSW	9	108,357,845 (GRCm39)	missense	probably damaging	0.99
R8156:Lamb2	UTSW	9	108,357,845 (GRCm39)	missense	probably damaging	0.99
R8157:Lamb2	UTSW	9	108,357,845 (GRCm39)	missense	probably damaging	0.99
R8419:Lamb2	UTSW	9	108,365,563 (GRCm39)	missense	probably benign	0.00
R8695:Lamb2	UTSW	9	108,363,365 (GRCm39)	missense	probably benign	0.08
R8825:Lamb2	UTSW	9	108,362,460 (GRCm39)	missense	probably benign	0.01
R9005:Lamb2	UTSW	9	108,361,370 (GRCm39)	critical splice donor site	probably null
R9315:Lamb2	UTSW	9	108,364,366 (GRCm39)	missense	possibly damaging	0.77
R9398:Lamb2	UTSW	9	108,364,366 (GRCm39)	missense	possibly damaging	0.77
R9419:Lamb2	UTSW	9	108,356,959 (GRCm39)	missense	unknown
R9450:Lamb2	UTSW	9	108,357,760 (GRCm39)	nonsense	probably null
R9495:Lamb2	UTSW	9	108,358,006 (GRCm39)	missense	probably damaging	1.00
R9514:Lamb2	UTSW	9	108,358,006 (GRCm39)	missense	probably damaging	1.00
R9529:Lamb2	UTSW	9	108,363,477 (GRCm39)	missense	probably benign	0.05
R9532:Lamb2	UTSW	9	108,365,830 (GRCm39)	missense	probably damaging	1.00
R9534:Lamb2	UTSW	9	108,365,830 (GRCm39)	missense	probably damaging	1.00
R9734:Lamb2	UTSW	9	108,365,830 (GRCm39)	missense	probably damaging	1.00
Z1176:Lamb2	UTSW	9	108,360,100 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16