Mutagenetix > Incidental Mutation

Incidental Mutation 'RF024:Lamc2'

604030

Institutional Source

Beutler Lab

Gene Symbol

Lamc2

Ensembl Gene

ENSMUSG00000026479

Gene Name

laminin, gamma 2

Synonyms

nicein, 100kDa

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.608) question?

Stock #

RF024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153122756-153186447 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 153152055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 208 (T208S)

Ref Sequence

ENSEMBL: ENSMUSP00000140514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027753] [ENSMUST00000185356]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027753
AA Change: T208S

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027753
Gene: ENSMUSG00000026479
AA Change: T208S

Domain	Start	End	E-Value	Type
EGF_Lam	28	81	1.03e-7	SMART
EGF_Lam	84	128	2.14e-14	SMART
EGF_Lam	139	184	4.52e-13	SMART
LamB	245	370	7.58e-46	SMART
EGF_like	370	413	3.83e0	SMART
Blast:EGF_like	417	460	8e-23	BLAST
EGF_Lam	462	514	1.95e-8	SMART
EGF_Lam	517	570	1.88e-10	SMART
EGF_like	573	610	2.6e-1	SMART
coiled coil region	612	680	N/A	INTRINSIC
low complexity region	792	817	N/A	INTRINSIC
coiled coil region	952	994	N/A	INTRINSIC
low complexity region	1016	1027	N/A	INTRINSIC
coiled coil region	1039	1072	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185356
AA Change: T208S

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140514
Gene: ENSMUSG00000026479
AA Change: T208S

Domain	Start	End	E-Value	Type
EGF_Lam	28	81	1.03e-7	SMART
EGF_Lam	84	128	2.14e-14	SMART
EGF_Lam	139	184	4.52e-13	SMART
LamB	245	370	7.58e-46	SMART
EGF_like	370	413	3.83e0	SMART
Blast:EGF_like	417	460	8e-23	BLAST
EGF_Lam	462	514	1.95e-8	SMART
EGF_Lam	517	570	1.88e-10	SMART
EGF_like	573	610	2.6e-1	SMART
coiled coil region	612	680	N/A	INTRINSIC
low complexity region	792	817	N/A	INTRINSIC
coiled coil region	952	994	N/A	INTRINSIC
low complexity region	1016	1027	N/A	INTRINSIC
coiled coil region	1039	1072	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

Validation Efficiency

98% (55/56)

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), have 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 gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	T	4: 53,049,125	T1651N	probably damaging	Het
Abca17	T	TACCTG	17: 24,287,732		probably null	Het
Adgra3	A	T	5: 50,013,387		probably null	Het
Ank1	T	A	8: 23,119,344	F1380I	probably benign	Het
Apcs	A	T	1: 172,894,242	M179K	probably damaging	Het
Asb7	C	T	7: 66,647,883	R287Q	probably damaging	Het
Begain	G	GCCGCCT	12: 109,033,437		probably null	Het
Cacna2d1	A	G	5: 16,025,776	T69A	possibly damaging	Het
Ccdc170	CCA	CCAACA	10: 4,561,024		probably benign	Het
Ccdc69	A	G	11: 55,060,523	L24P	probably damaging	Het
Cdh16	T	G	8: 104,617,052	N604T	probably damaging	Het
Crybg1	A	G	10: 44,004,745	V149A	probably benign	Het
Cyb5r4	ACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA	9: 87,040,435		probably benign	Het
Dnmt1	CAGTTCCTACCTCGTT	CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT	9: 20,910,130		probably null	Het
Dnmt1	ACCTCGTT	ACCTCGTTTTGGGGGCGGAGCACAGTTCCTCCCTCGTT	9: 20,910,138		probably benign	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,874,762		probably benign	Het
Enah	GTGGCGGC	G	1: 181,921,934		probably null	Het
Entpd2	CTT	CTTT	2: 25,400,895		probably null	Het
Epha2	CCCCC	CCCCCC	4: 141,323,406		unknown	Het
Fam114a2	T	C	11: 57,493,033	T359A	probably benign	Het
Farp1	A	G	14: 121,237,148	I258V	probably damaging	Het
Fbxw28	G	T	9: 109,338,526	Y54*	probably null	Het
Gabre	CAGGCTCA	C	X: 72,270,177		probably null	Het
Gm17660	A	C	5: 104,074,859		probably null	Het
Gprc5d	A	T	6: 135,116,519	L130Q	probably damaging	Het
H13	G	A	2: 152,669,669	E30K	probably damaging	Het
Herc2	C	T	7: 56,226,525	R4429C	probably damaging	Het
Kif21b	A	T	1: 136,158,341	T817S	probably damaging	Het
Kl	A	C	5: 150,953,420	Y235S	probably benign	Het
Klk5	T	A	7: 43,842,374	V20D	possibly damaging	Het
Krtap28-10	TCCCACA	TCCCACACCCACA	1: 83,042,123		probably benign	Het
Krtap28-10	CAC	CACGACAGCCACAGCAAC	1: 83,042,252		probably benign	Het
Map1a	GCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA	2: 121,306,307		probably benign	Het
Map3k5	A	T	10: 20,100,172	N804I	probably damaging	Het
Map6d1	G	A	16: 20,241,000	T105I	probably benign	Het
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,273,573		probably benign	Het
Mbd1	GTCTTCGTCTGCATCTGCATCTGCATCT	GTCT	18: 74,273,610		probably benign	Het
Mkl1	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	15: 81,018,255		probably benign	Het
Mrgprx1	A	AGAC	7: 48,021,511		probably benign	Het
Mroh2a	C	A	1: 88,242,485	L710M	probably damaging	Het
Msmb	A	G	14: 32,158,090	D79G	probably damaging	Het
Nab2	A	T	10: 127,664,364	D286E	probably benign	Het
Nrxn1	G	A	17: 90,362,876	R1144C	probably damaging	Het
Otog	A	T	7: 46,287,669	T1601S	probably damaging	Het
Pan2	G	A	10: 128,315,535	E842K	probably benign	Het
Pcca	C	T	14: 122,684,898	T357I	probably damaging	Het
Pcnx	C	T	12: 81,917,727	P223S	probably damaging	Het
Prop1	A	C	11: 50,951,130	Y150D	possibly damaging	Het
Prss56	T	C	1: 87,187,170	L465P	probably benign	Het
Psip1	T	C	4: 83,460,498	I353M	probably damaging	Het
Rapgef3	A	C	15: 97,760,740	H170Q	probably benign	Het
Rasal2	A	T	1: 157,147,790	S1150T	probably damaging	Het
Rtbdn	C	CAGCGGA	8: 84,956,179		probably benign	Het
Sap30bp	T	A	11: 115,960,507	I135N	probably damaging	Het
Sbp	ATG	ATGCTGACAACAAAGCTG	17: 23,945,387		probably benign	Het
Slc35e4	A	T	11: 3,907,960	L215Q	possibly damaging	Het
Slc6a20b	A	T	9: 123,598,342		probably benign	Het
Smarca2	CAGC	CAGCCCAAGC	19: 26,631,020		probably benign	Het
Surf4	A	T	2: 26,922,167	I183N	probably benign	Het
Tcof1	CAG	CAGAAG	18: 60,835,738		probably benign	Het
Timm23	T	A	14: 32,180,555	*210C	probably null	Het
Tnfaip8	ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,046,831		probably benign	Het
Trim66	A	T	7: 109,460,740	L813Q	possibly damaging	Het
Trip10	G	A	17: 57,255,045	A224T	probably benign	Het
Ttn	T	C	2: 76,907,599	T4245A	unknown	Het
Ttn	T	A	2: 76,908,025	I4103F	unknown	Het
Ubn2	T	A	6: 38,463,628	M313K	probably damaging	Het
Ubr5	T	C	15: 38,028,652	N521S		Het
Utp20	A	T	10: 88,825,457	D29E	probably damaging	Het
Vmn2r60	T	A	7: 42,140,939	V450E	probably benign	Het
Wdr66	GAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	GAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,883		probably benign	Het
Wdr66	GGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	GGAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,888		probably benign	Het
Wdr66	GAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	GAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,889		probably benign	Het
Wnt6	A	T	1: 74,782,821	D187V	probably damaging	Het
Zc3h14	T	C	12: 98,758,861	C261R	probably damaging	Het
Zfp384	GCCCAGGC	GCCCAGGCCCAGCCCCAGGC	6: 125,036,489		probably benign	Het
Zfp395	C	T	14: 65,385,425	S3F	unknown	Het
Zfp583	T	A	7: 6,316,982	I344F	probably damaging	Het
Zfp599	A	C	9: 22,253,884	V65G	probably benign	Het
Zfp808	T	C	13: 62,171,299	V114A	probably benign	Het
Zfp933	G	A	4: 147,826,441	H233Y	probably damaging	Het
Znrd1as	CACCACCACCACCAC	CACCACCACCACCACCACCACTACCACCACCACCAC	17: 36,965,057		probably benign	Het

Other mutations in Lamc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Lamc2	APN	1	153130056	missense	probably benign	0.00
IGL00907:Lamc2	APN	1	153144651	missense	probably benign	0.32
IGL02026:Lamc2	APN	1	153144736	splice site	probably benign
IGL02335:Lamc2	APN	1	153166216	missense	probably benign	0.00
IGL02568:Lamc2	APN	1	153166262	missense	possibly damaging	0.91
IGL02640:Lamc2	APN	1	153152057	missense	probably damaging	0.99
IGL02801:Lamc2	APN	1	153136783	missense	probably benign	0.10
IGL02827:Lamc2	APN	1	153139781	missense	probably damaging	1.00
IGL03240:Lamc2	APN	1	153124125	missense	probably damaging	1.00
IGL03245:Lamc2	APN	1	153133757	splice site	probably null
abasement	UTSW	1	153127025	missense	probably null	0.86
ANU74:Lamc2	UTSW	1	153131835	missense	probably benign	0.00
R0279:Lamc2	UTSW	1	153130696	missense	probably benign	0.01
R0528:Lamc2	UTSW	1	153124094	missense	probably damaging	1.00
R0597:Lamc2	UTSW	1	153133621	missense	probably benign	0.02
R0650:Lamc2	UTSW	1	153143876	missense	possibly damaging	0.88
R0826:Lamc2	UTSW	1	153152082	missense	probably damaging	1.00
R1015:Lamc2	UTSW	1	153166199	missense	possibly damaging	0.53
R1172:Lamc2	UTSW	1	153166287	missense	probably damaging	1.00
R1308:Lamc2	UTSW	1	153150818	missense	probably damaging	1.00
R1521:Lamc2	UTSW	1	153166263	missense	probably benign	0.11
R1525:Lamc2	UTSW	1	153130756	missense	probably benign	0.00
R1602:Lamc2	UTSW	1	153127028	missense	probably benign	0.00
R1631:Lamc2	UTSW	1	153158934	missense	possibly damaging	0.95
R1633:Lamc2	UTSW	1	153141698	nonsense	probably null
R1832:Lamc2	UTSW	1	153166187	missense	possibly damaging	0.72
R1978:Lamc2	UTSW	1	153133597	critical splice donor site	probably null
R1996:Lamc2	UTSW	1	153154470	missense	possibly damaging	0.84
R2046:Lamc2	UTSW	1	153141765	missense	probably benign	0.01
R2107:Lamc2	UTSW	1	153154386	splice site	probably benign
R2130:Lamc2	UTSW	1	153127124	missense	probably damaging	1.00
R2182:Lamc2	UTSW	1	153126866	missense	possibly damaging	0.46
R2207:Lamc2	UTSW	1	153133706	missense	possibly damaging	0.68
R2218:Lamc2	UTSW	1	153130779	missense	probably benign	0.21
R3772:Lamc2	UTSW	1	153124251	missense	probably benign
R4616:Lamc2	UTSW	1	153166169	missense	probably damaging	1.00
R4874:Lamc2	UTSW	1	153154395	missense	probably null	1.00
R4939:Lamc2	UTSW	1	153126836	missense	probably damaging	1.00
R4985:Lamc2	UTSW	1	153136805	missense	probably benign
R5544:Lamc2	UTSW	1	153124053	missense	possibly damaging	0.93
R5632:Lamc2	UTSW	1	153131890	missense	probably damaging	1.00
R5771:Lamc2	UTSW	1	153141594	missense	probably benign	0.04
R5811:Lamc2	UTSW	1	153166253	missense	possibly damaging	0.53
R6058:Lamc2	UTSW	1	153136829	missense	probably benign	0.01
R6130:Lamc2	UTSW	1	153136777	missense	probably benign	0.01
R6137:Lamc2	UTSW	1	153166153	missense	possibly damaging	0.90
R6994:Lamc2	UTSW	1	153136762	missense	probably benign	0.18
R6995:Lamc2	UTSW	1	153136762	missense	probably benign	0.18
R6997:Lamc2	UTSW	1	153136762	missense	probably benign	0.18
R7000:Lamc2	UTSW	1	153166127	missense	possibly damaging	0.72
R7018:Lamc2	UTSW	1	153136742	missense	probably benign	0.00
R7145:Lamc2	UTSW	1	153130772	missense	possibly damaging	0.95
R7148:Lamc2	UTSW	1	153185984	missense	probably benign	0.01
R7171:Lamc2	UTSW	1	153139749	missense	probably damaging	1.00
R7640:Lamc2	UTSW	1	153136804	missense	possibly damaging	0.79
R7673:Lamc2	UTSW	1	153124036	missense	probably damaging	1.00
R7684:Lamc2	UTSW	1	153127025	missense	probably null	0.86
R7712:Lamc2	UTSW	1	153133611	missense	possibly damaging	0.81
R7940:Lamc2	UTSW	1	153130775	nonsense	probably null
R8153:Lamc2	UTSW	1	153124104	frame shift	probably null
R8211:Lamc2	UTSW	1	153166278	missense	probably damaging	1.00
R8486:Lamc2	UTSW	1	153158891	missense	probably benign
R8739:Lamc2	UTSW	1	153144653	nonsense	probably null
R8744:Lamc2	UTSW	1	153143738	missense	probably benign	0.19
R8911:Lamc2	UTSW	1	153152127	missense	probably damaging	1.00
R9435:Lamc2	UTSW	1	153137326	missense	probably benign	0.00
R9457:Lamc2	UTSW	1	153139854	missense	probably benign
Z1176:Lamc2	UTSW	1	153133621	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGGGATGTTAATAGCTTGTCTCC -3'
(R):5'- CATGGCATTCCCTGTGAAATAAG -3'

Sequencing Primer
(F):5'- AAGGTGTCTGCCTAGCATAC -3'
(R):5'- GAAATAACAGTGTTGCCCTGAC -3'

Posted On

2019-12-04