Mutagenetix > Incidental Mutation

Incidental Mutation 'R1521:Lamc2'

166942

Institutional Source

Beutler Lab

Gene Symbol

Lamc2

Ensembl Gene

ENSMUSG00000026479

Gene Name

laminin, gamma 2

Synonyms

nicein, 100kDa

MMRRC Submission

040870-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.485) question?

Stock #

R1521 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152998502-153062193 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 153042009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 42 (E42K)

Ref Sequence

ENSEMBL: ENSMUSP00000140514 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027753
AA Change: E42K

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027753
Gene: ENSMUSG00000026479
AA Change: E42K

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

probably benign
Transcript: ENSMUST00000185356
AA Change: E42K

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140514
Gene: ENSMUSG00000026479
AA Change: E42K

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

noncoding transcript
Transcript: ENSMUST00000188831

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.6%

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), 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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 112,713,867 (GRCm39)	L104P	possibly damaging	Het
Adgrf5	T	C	17: 43,741,443 (GRCm39)	V360A	probably benign	Het
Ahnak	G	A	19: 8,982,092 (GRCm39)	M1125I	probably benign	Het
Akap12	T	C	10: 4,304,804 (GRCm39)	V538A	probably benign	Het
Arhgef10l	T	C	4: 140,242,749 (GRCm39)	D1088G	possibly damaging	Het
Atp7b	A	T	8: 22,517,689 (GRCm39)	L268Q	probably damaging	Het
Atxn2	A	C	5: 121,917,654 (GRCm39)	N516T	probably damaging	Het
Cacna1h	T	C	17: 25,616,328 (GRCm39)	M184V	possibly damaging	Het
Cacnb2	G	T	2: 14,619,163 (GRCm39)	R66L	probably benign	Het
Casp8ap2	A	G	4: 32,631,867 (GRCm39)	E96G	probably damaging	Het
Ccdc78	G	T	17: 26,007,755 (GRCm39)	R264L	probably damaging	Het
Cdh4	G	A	2: 179,439,351 (GRCm39)	R166H	probably damaging	Het
Cog7	C	T	7: 121,529,797 (GRCm39)	D615N	possibly damaging	Het
Crtc2	T	C	3: 90,164,690 (GRCm39)	V115A	probably benign	Het
Crybg1	A	G	10: 43,874,412 (GRCm39)	S899P	probably damaging	Het
Ctdnep1	T	A	11: 69,879,461 (GRCm39)	V128E	probably damaging	Het
Ctnna3	A	G	10: 64,795,621 (GRCm39)	K780E	probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dazap2	T	A	15: 100,515,946 (GRCm39)	Y91*	probably null	Het
Dcdc5	T	C	2: 106,182,014 (GRCm39)		noncoding transcript	Het
Dppa1	T	A	11: 46,501,300 (GRCm39)	R74S	possibly damaging	Het
Elovl1	A	T	4: 118,289,197 (GRCm39)	T241S	probably benign	Het
Eya1	G	T	1: 14,344,774 (GRCm39)	Q86K	probably damaging	Het
Fam110d	T	C	4: 133,978,661 (GRCm39)	*272W	probably null	Het
Fancm	A	T	12: 65,168,478 (GRCm39)	M1614L	probably benign	Het
Fcgbp	C	T	7: 27,774,585 (GRCm39)	T53I	probably benign	Het
Fpr3	T	A	17: 18,191,277 (GRCm39)	W183R	probably damaging	Het
Galnt13	G	A	2: 54,744,657 (GRCm39)	V119I	probably benign	Het
Garin4	T	A	1: 190,896,219 (GRCm39)	R141S	probably benign	Het
Gcfc2	T	C	6: 81,900,793 (GRCm39)	S36P	probably benign	Het
Gdap2	T	A	3: 100,101,931 (GRCm39)	D412E	possibly damaging	Het
Gm12258	T	C	11: 58,750,381 (GRCm39)	C41R	probably damaging	Het
Hipk1	T	G	3: 103,685,098 (GRCm39)	E172D	probably benign	Het
Hmgcs1	T	G	13: 120,165,127 (GRCm39)	L326R	probably benign	Het
Hs6st1	C	A	1: 36,107,967 (GRCm39)	R77S	probably damaging	Het
Ifit3	A	T	19: 34,564,573 (GRCm39)	N40Y	probably damaging	Het
Il1a	T	A	2: 129,146,661 (GRCm39)	Q144L	possibly damaging	Het
Itga7	A	G	10: 128,793,680 (GRCm39)	E1128G	possibly damaging	Het
Itih2	T	C	2: 10,111,558 (GRCm39)	D460G	probably damaging	Het
Ivns1abp	G	A	1: 151,227,309 (GRCm39)	C39Y	probably damaging	Het
Kif22	G	T	7: 126,627,011 (GRCm39)	A646E	probably damaging	Het
Klhl29	T	C	12: 5,141,307 (GRCm39)	Y559C	probably damaging	Het
Klhl7	T	A	5: 24,354,108 (GRCm39)		probably null	Het
Klhl9	A	G	4: 88,640,230 (GRCm39)	S4P	probably benign	Het
Klk10	A	G	7: 43,432,304 (GRCm39)	Q79R	probably benign	Het
Klk6	T	C	7: 43,478,699 (GRCm39)		probably null	Het
Kpna2rt	T	A	17: 90,217,734 (GRCm39)	N4I	possibly damaging	Het
Lingo3	T	C	10: 80,671,555 (GRCm39)	D125G	probably benign	Het
Map1b	T	C	13: 99,569,247 (GRCm39)	N1158S	unknown	Het
Masp1	T	A	16: 23,313,387 (GRCm39)	N183Y	probably damaging	Het
Mdga2	A	G	12: 66,615,700 (GRCm39)	Y636H	probably benign	Het
Mical2	T	A	7: 111,980,817 (GRCm39)	S264T	probably damaging	Het
Mif	A	G	10: 75,695,375 (GRCm39)	V95A	possibly damaging	Het
Mmp17	G	A	5: 129,672,152 (GRCm39)		probably null	Het
Mmp23	T	C	4: 155,735,174 (GRCm39)	R390G	possibly damaging	Het
Ncoa6	A	C	2: 155,257,142 (GRCm39)	S800R	possibly damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nr2e3	A	T	9: 59,856,488 (GRCm39)	S67R	probably damaging	Het
Odf2l	T	C	3: 144,854,797 (GRCm39)	S545P	possibly damaging	Het
Or10d3	A	T	9: 39,462,080 (GRCm39)	V29E	possibly damaging	Het
Or4a47	G	A	2: 89,665,516 (GRCm39)	R258*	probably null	Het
Or52s1b	T	A	7: 102,822,658 (GRCm39)	Y62F	probably benign	Het
Or5k1b	C	T	16: 58,581,216 (GRCm39)	E108K	probably damaging	Het
Or7e176	A	C	9: 20,171,728 (GRCm39)	Q197H	possibly damaging	Het
Or7g27	C	T	9: 19,249,948 (GRCm39)	S64F	probably benign	Het
Or8b51	T	G	9: 38,569,014 (GRCm39)	I225L	probably damaging	Het
Otog	A	T	7: 45,908,688 (GRCm39)	H562L	possibly damaging	Het
Pcdh15	T	C	10: 74,430,023 (GRCm39)	V1250A	probably damaging	Het
Pde1c	A	G	6: 56,150,592 (GRCm39)	V309A	possibly damaging	Het
Pfkfb4	A	C	9: 108,836,373 (GRCm39)	T134P	probably damaging	Het
Phc3	G	T	3: 30,990,724 (GRCm39)	Q498K	possibly damaging	Het
Phlpp1	T	C	1: 106,320,049 (GRCm39)	V1348A	probably damaging	Het
Pik3ap1	T	C	19: 41,309,997 (GRCm39)	D441G	probably damaging	Het
Pkd1l2	T	C	8: 117,792,239 (GRCm39)		probably null	Het
Pla2g4a	T	C	1: 149,733,437 (GRCm39)		probably null	Het
Pola2	A	T	19: 5,998,434 (GRCm39)	I376N	probably damaging	Het
Pold2	T	A	11: 5,826,833 (GRCm39)	N34Y	probably damaging	Het
Ppp2r5c	T	C	12: 110,521,320 (GRCm39)	L281P	probably damaging	Het
Prss46	A	G	9: 110,678,703 (GRCm39)	I29V	probably benign	Het
Ranbp6	A	T	19: 29,788,846 (GRCm39)	V502E	probably benign	Het
Rdh14	T	C	12: 10,444,613 (GRCm39)	F155L	probably damaging	Het
Rnaseh2a	A	T	8: 85,692,487 (GRCm39)		probably null	Het
Rpp30	A	G	19: 36,071,785 (GRCm39)	T118A	possibly damaging	Het
Rragd	T	C	4: 32,996,005 (GRCm39)	F117L	probably damaging	Het
Rxylt1	A	G	10: 121,926,384 (GRCm39)	W243R	probably damaging	Het
S100a2	T	A	3: 90,498,599 (GRCm39)		probably null	Het
Septin12	T	C	16: 4,814,340 (GRCm39)	K43R	probably damaging	Het
Sh3tc2	A	G	18: 62,141,559 (GRCm39)	E1080G	probably damaging	Het
Slc26a9	A	G	1: 131,678,415 (GRCm39)	K27R	probably damaging	Het
Spata17	T	A	1: 186,926,191 (GRCm39)	K46N	probably damaging	Het
St14	A	C	9: 31,019,511 (GRCm39)	D103E	probably benign	Het
St6galnac2	T	A	11: 116,575,173 (GRCm39)	Q222L	possibly damaging	Het
Tdrd9	T	C	12: 112,002,844 (GRCm39)	V831A	probably damaging	Het
Tert	A	G	13: 73,790,175 (GRCm39)	E843G	probably damaging	Het
Tex21	A	G	12: 76,251,044 (GRCm39)	V464A	probably benign	Het
Tmem232	T	A	17: 65,791,496 (GRCm39)	H124L	probably damaging	Het
Tnfrsf19	T	G	14: 61,242,555 (GRCm39)	S110R	probably damaging	Het
Tnnt3	A	T	7: 142,069,562 (GRCm39)	K272*	probably null	Het
Tnxb	T	C	17: 34,930,477 (GRCm39)	L2054P	probably damaging	Het
Trcg1	A	C	9: 57,149,748 (GRCm39)	D440A	probably benign	Het
Trpm3	A	G	19: 22,878,585 (GRCm39)	E504G	probably damaging	Het
Trpm5	C	T	7: 142,636,626 (GRCm39)	R437H	probably benign	Het
Ttn	T	C	2: 76,571,511 (GRCm39)	R18134G	probably damaging	Het
Uchl5	A	C	1: 143,674,160 (GRCm39)	M64L	possibly damaging	Het
Urb1	G	A	16: 90,550,751 (GRCm39)	R2034W	probably damaging	Het
Usp44	T	A	10: 93,683,048 (GRCm39)	C452*	probably null	Het
Uvssa	G	A	5: 33,571,278 (GRCm39)	A641T	probably damaging	Het
Vmn1r204	T	A	13: 22,741,248 (GRCm39)	I293N	probably benign	Het
Vmn2r84	A	T	10: 130,225,137 (GRCm39)	C458S	probably benign	Het
Vmn2r85	T	G	10: 130,261,788 (GRCm39)	H183P	probably damaging	Het
Vps13d	G	T	4: 144,832,431 (GRCm39)	T2825K	probably benign	Het
Zc3hc1	T	A	6: 30,376,024 (GRCm39)	I179F	probably benign	Het
Zfp112	A	G	7: 23,825,210 (GRCm39)	N393D	probably damaging	Het
Zfp558	A	G	9: 18,367,859 (GRCm39)	S310P	possibly damaging	Het
Zfp560	A	C	9: 20,260,071 (GRCm39)		probably null	Het
Zfp668	C	T	7: 127,466,252 (GRCm39)	E311K	probably benign	Het
Zfp763	T	A	17: 33,252,276 (GRCm39)	M1L	probably benign	Het
Zfp947	A	T	17: 22,364,813 (GRCm39)	M287K	probably benign	Het

Other mutations in Lamc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Lamc2	APN	1	153,005,802 (GRCm39)	missense	probably benign	0.00
IGL00907:Lamc2	APN	1	153,020,397 (GRCm39)	missense	probably benign	0.32
IGL02026:Lamc2	APN	1	153,020,482 (GRCm39)	splice site	probably benign
IGL02335:Lamc2	APN	1	153,041,962 (GRCm39)	missense	probably benign	0.00
IGL02568:Lamc2	APN	1	153,042,008 (GRCm39)	missense	possibly damaging	0.91
IGL02640:Lamc2	APN	1	153,027,803 (GRCm39)	missense	probably damaging	0.99
IGL02801:Lamc2	APN	1	153,012,529 (GRCm39)	missense	probably benign	0.10
IGL02827:Lamc2	APN	1	153,015,527 (GRCm39)	missense	probably damaging	1.00
IGL03240:Lamc2	APN	1	152,999,871 (GRCm39)	missense	probably damaging	1.00
IGL03245:Lamc2	APN	1	153,009,503 (GRCm39)	splice site	probably null
abasement	UTSW	1	153,002,771 (GRCm39)	missense	probably null	0.86
ANU74:Lamc2	UTSW	1	153,007,581 (GRCm39)	missense	probably benign	0.00
R0279:Lamc2	UTSW	1	153,006,442 (GRCm39)	missense	probably benign	0.01
R0528:Lamc2	UTSW	1	152,999,840 (GRCm39)	missense	probably damaging	1.00
R0597:Lamc2	UTSW	1	153,009,367 (GRCm39)	missense	probably benign	0.02
R0650:Lamc2	UTSW	1	153,019,622 (GRCm39)	missense	possibly damaging	0.88
R0826:Lamc2	UTSW	1	153,027,828 (GRCm39)	missense	probably damaging	1.00
R1015:Lamc2	UTSW	1	153,041,945 (GRCm39)	missense	possibly damaging	0.53
R1172:Lamc2	UTSW	1	153,042,033 (GRCm39)	missense	probably damaging	1.00
R1308:Lamc2	UTSW	1	153,026,564 (GRCm39)	missense	probably damaging	1.00
R1525:Lamc2	UTSW	1	153,006,502 (GRCm39)	missense	probably benign	0.00
R1602:Lamc2	UTSW	1	153,002,774 (GRCm39)	missense	probably benign	0.00
R1631:Lamc2	UTSW	1	153,034,680 (GRCm39)	missense	possibly damaging	0.95
R1633:Lamc2	UTSW	1	153,017,444 (GRCm39)	nonsense	probably null
R1832:Lamc2	UTSW	1	153,041,933 (GRCm39)	missense	possibly damaging	0.72
R1978:Lamc2	UTSW	1	153,009,343 (GRCm39)	critical splice donor site	probably null
R1996:Lamc2	UTSW	1	153,030,216 (GRCm39)	missense	possibly damaging	0.84
R2046:Lamc2	UTSW	1	153,017,511 (GRCm39)	missense	probably benign	0.01
R2107:Lamc2	UTSW	1	153,030,132 (GRCm39)	splice site	probably benign
R2130:Lamc2	UTSW	1	153,002,870 (GRCm39)	missense	probably damaging	1.00
R2182:Lamc2	UTSW	1	153,002,612 (GRCm39)	missense	possibly damaging	0.46
R2207:Lamc2	UTSW	1	153,009,452 (GRCm39)	missense	possibly damaging	0.68
R2218:Lamc2	UTSW	1	153,006,525 (GRCm39)	missense	probably benign	0.21
R3772:Lamc2	UTSW	1	152,999,997 (GRCm39)	missense	probably benign
R4616:Lamc2	UTSW	1	153,041,915 (GRCm39)	missense	probably damaging	1.00
R4874:Lamc2	UTSW	1	153,030,141 (GRCm39)	missense	probably null	1.00
R4939:Lamc2	UTSW	1	153,002,582 (GRCm39)	missense	probably damaging	1.00
R4985:Lamc2	UTSW	1	153,012,551 (GRCm39)	missense	probably benign
R5544:Lamc2	UTSW	1	152,999,799 (GRCm39)	missense	possibly damaging	0.93
R5632:Lamc2	UTSW	1	153,007,636 (GRCm39)	missense	probably damaging	1.00
R5771:Lamc2	UTSW	1	153,017,340 (GRCm39)	missense	probably benign	0.04
R5811:Lamc2	UTSW	1	153,041,999 (GRCm39)	missense	possibly damaging	0.53
R6058:Lamc2	UTSW	1	153,012,575 (GRCm39)	missense	probably benign	0.01
R6130:Lamc2	UTSW	1	153,012,523 (GRCm39)	missense	probably benign	0.01
R6137:Lamc2	UTSW	1	153,041,899 (GRCm39)	missense	possibly damaging	0.90
R6994:Lamc2	UTSW	1	153,012,508 (GRCm39)	missense	probably benign	0.18
R6995:Lamc2	UTSW	1	153,012,508 (GRCm39)	missense	probably benign	0.18
R6997:Lamc2	UTSW	1	153,012,508 (GRCm39)	missense	probably benign	0.18
R7000:Lamc2	UTSW	1	153,041,873 (GRCm39)	missense	possibly damaging	0.72
R7018:Lamc2	UTSW	1	153,012,488 (GRCm39)	missense	probably benign	0.00
R7145:Lamc2	UTSW	1	153,006,518 (GRCm39)	missense	possibly damaging	0.95
R7148:Lamc2	UTSW	1	153,061,730 (GRCm39)	missense	probably benign	0.01
R7171:Lamc2	UTSW	1	153,015,495 (GRCm39)	missense	probably damaging	1.00
R7640:Lamc2	UTSW	1	153,012,550 (GRCm39)	missense	possibly damaging	0.79
R7673:Lamc2	UTSW	1	152,999,782 (GRCm39)	missense	probably damaging	1.00
R7684:Lamc2	UTSW	1	153,002,771 (GRCm39)	missense	probably null	0.86
R7712:Lamc2	UTSW	1	153,009,357 (GRCm39)	missense	possibly damaging	0.81
R7940:Lamc2	UTSW	1	153,006,521 (GRCm39)	nonsense	probably null
R8153:Lamc2	UTSW	1	152,999,850 (GRCm39)	frame shift	probably null
R8211:Lamc2	UTSW	1	153,042,024 (GRCm39)	missense	probably damaging	1.00
R8486:Lamc2	UTSW	1	153,034,637 (GRCm39)	missense	probably benign
R8739:Lamc2	UTSW	1	153,020,399 (GRCm39)	nonsense	probably null
R8744:Lamc2	UTSW	1	153,019,484 (GRCm39)	missense	probably benign	0.19
R8911:Lamc2	UTSW	1	153,027,873 (GRCm39)	missense	probably damaging	1.00
R9435:Lamc2	UTSW	1	153,013,072 (GRCm39)	missense	probably benign	0.00
R9457:Lamc2	UTSW	1	153,015,600 (GRCm39)	missense	probably benign
RF024:Lamc2	UTSW	1	153,027,801 (GRCm39)	missense	possibly damaging	0.70
Z1176:Lamc2	UTSW	1	153,009,367 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGACTCTGATGAACCTGGCTCCTTC -3'
(R):5'- AACGGTGGACATCATGAGCTGC -3'

Sequencing Primer
(F):5'- ccctcctttccccctctc -3'
(R):5'- ttccccccaatagccgac -3'

Posted On

2014-04-13