Incidental Mutation 'R7673:Lamc2'
ID 592277
Institutional Source Beutler Lab
Gene Symbol Lamc2
Ensembl Gene ENSMUSG00000026479
Gene Name laminin, gamma 2
Synonyms nicein, 100kDa
MMRRC Submission 045743-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.601) question?
Stock # R7673 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 153122756-153186447 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153124036 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 1192 (Q1192H)
Ref Sequence ENSEMBL: ENSMUSP00000140514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027753] [ENSMUST00000043313] [ENSMUST00000185356] [ENSMUST00000186368] [ENSMUST00000188206]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027753
AA Change: Q1192H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027753
Gene: ENSMUSG00000026479
AA Change: Q1192H

DomainStartEndE-ValueType
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: ENSMUST00000043313
SMART Domains Protein: ENSMUSP00000041110
Gene: ENSMUSG00000042751

DomainStartEndE-ValueType
Pfam:CTP_transf_like 12 276 2e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000185356
AA Change: Q1192H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140514
Gene: ENSMUSG00000026479
AA Change: Q1192H

DomainStartEndE-ValueType
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: ENSMUST00000186368
SMART Domains Protein: ENSMUSP00000140585
Gene: ENSMUSG00000042751

DomainStartEndE-ValueType
Pfam:CTP_transf_2 12 275 2e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188206
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (72/72)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C A 5: 76,882,708 (GRCm38) A682S probably benign Het
Acad11 A T 9: 104,063,906 (GRCm38) probably null Het
Ahctf1 A T 1: 179,762,846 (GRCm38) D1287E probably benign Het
Aldh9a1 C A 1: 167,361,550 (GRCm38) L360M probably benign Het
Ank3 A T 10: 69,990,501 (GRCm38) I1667F Het
Atp8b3 A G 10: 80,524,406 (GRCm38) Y944H probably damaging Het
Ccdc30 T C 4: 119,353,172 (GRCm38) D316G probably damaging Het
Ccdc50 T C 16: 27,406,675 (GRCm38) I46T possibly damaging Het
Cfap74 T G 4: 155,463,056 (GRCm38) I1233S unknown Het
Chd9 A G 8: 91,051,697 (GRCm38) M2779V probably damaging Het
Cmya5 A T 13: 93,094,121 (GRCm38) D1486E probably benign Het
Creb3 T C 4: 43,563,117 (GRCm38) V72A not run Het
Cxcl17 C A 7: 25,402,868 (GRCm38) C50F probably damaging Het
Dcaf11 C A 14: 55,569,305 (GRCm38) N528K probably benign Het
Ddx46 T C 13: 55,659,159 (GRCm38) V535A probably benign Het
Det1 A T 7: 78,843,611 (GRCm38) V215D possibly damaging Het
Dnaja3 A G 16: 4,694,464 (GRCm38) N244S probably benign Het
Dnajc13 G T 9: 104,233,692 (GRCm38) P127T probably benign Het
Dnm2 T A 9: 21,481,421 (GRCm38) probably null Het
Fam117a G T 11: 95,371,496 (GRCm38) R142L probably benign Het
Fpr-rs6 T C 17: 20,182,737 (GRCm38) M121V probably benign Het
Gatad1 T C 5: 3,646,867 (GRCm38) T95A probably benign Het
Gdap2 A G 3: 100,191,699 (GRCm38) D369G probably benign Het
Gm12185 A T 11: 48,907,628 (GRCm38) D679E probably benign Het
Gm5519 G C 19: 33,825,028 (GRCm38) G157A probably benign Het
Gm960 A C 19: 4,645,633 (GRCm38) D530E probably damaging Het
Gmeb2 T A 2: 181,260,388 (GRCm38) H123L probably benign Het
Golgb1 C T 16: 36,913,669 (GRCm38) P1134S probably benign Het
Gsdmc2 G T 15: 63,825,083 (GRCm38) A413D probably damaging Het
Hck C T 2: 153,129,085 (GRCm38) A89V possibly damaging Het
Heatr5b G A 17: 78,795,983 (GRCm38) T1147M probably damaging Het
Hoxb2 A T 11: 96,353,457 (GRCm38) D298V possibly damaging Het
Hrc A G 7: 45,337,234 (GRCm38) E603G probably benign Het
Hsd3b5 C A 3: 98,619,441 (GRCm38) A230S probably damaging Het
Hsh2d A G 8: 72,200,511 (GRCm38) S246G probably benign Het
Ifna4 A C 4: 88,842,072 (GRCm38) Q71P possibly damaging Het
Il4i1 A G 7: 44,840,362 (GRCm38) E517G probably benign Het
Kdm6b A C 11: 69,405,742 (GRCm38) S566R probably damaging Het
Map2 T C 1: 66,413,774 (GRCm38) S608P probably benign Het
March9 T C 10: 127,056,599 (GRCm38) E340G probably damaging Het
Mcm3 A G 1: 20,812,014 (GRCm38) L442P probably damaging Het
Mreg A C 1: 72,160,964 (GRCm38) M189R probably benign Het
Myh4 A T 11: 67,245,513 (GRCm38) R406W probably damaging Het
Nol8 A G 13: 49,664,780 (GRCm38) D842G probably benign Het
Nrros T A 16: 32,162,281 (GRCm38) I10F unknown Het
Obscn G A 11: 59,027,437 (GRCm38) P210S Het
Olfr1085 T C 2: 86,657,726 (GRCm38) H244R probably damaging Het
Olfr1312 T A 2: 112,042,580 (GRCm38) M151L probably benign Het
Olfr889 A T 9: 38,116,227 (GRCm38) T149S probably benign Het
Olfr998 T C 2: 85,591,062 (GRCm38) I174T possibly damaging Het
Orai1 A G 5: 123,029,442 (GRCm38) H226R probably benign Het
Pcdhb18 G T 18: 37,491,737 (GRCm38) V707L probably benign Het
Pex5 A T 6: 124,399,383 (GRCm38) L420Q probably damaging Het
Rab8a A G 8: 72,161,296 (GRCm38) probably benign Het
Rexo4 G A 2: 26,958,493 (GRCm38) H339Y probably benign Het
Rif1 G A 2: 52,088,654 (GRCm38) V369M probably damaging Het
Rpgrip1l A T 8: 91,300,787 (GRCm38) I208K possibly damaging Het
Sbno1 G A 5: 124,413,216 (GRCm38) P68L probably benign Het
Selenop G T 15: 3,274,858 (GRCm38) C62F probably damaging Het
Slc13a4 A T 6: 35,276,476 (GRCm38) V397D probably damaging Het
Slc4a3 T C 1: 75,557,351 (GRCm38) V1114A probably damaging Het
Stard3nl A T 13: 19,367,753 (GRCm38) S214T probably benign Het
Stra8 T A 6: 34,927,918 (GRCm38) probably null Het
Stx8 T C 11: 67,984,639 (GRCm38) F97L probably benign Het
Thsd7b A G 1: 129,915,750 (GRCm38) probably null Het
Tmem94 T C 11: 115,788,378 (GRCm38) I251T probably benign Het
Toporsl A T 4: 52,610,679 (GRCm38) T191S probably damaging Het
Vmn1r53 T A 6: 90,223,643 (GRCm38) E233V probably damaging Het
Wdr49 A T 3: 75,450,907 (GRCm38) L177Q probably damaging Het
Wnt8b T C 19: 44,511,688 (GRCm38) L238P possibly damaging Het
Xirp2 T C 2: 67,517,087 (GRCm38) V3224A probably damaging Het
Zfp583 G T 7: 6,317,010 (GRCm38) N334K possibly damaging Het
Zfp60 T A 7: 27,748,315 (GRCm38) I136N probably benign Het
Zmynd15 G T 11: 70,466,040 (GRCm38) R722L unknown Het
Other mutations in Lamc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Lamc2 APN 1 153,130,056 (GRCm38) missense probably benign 0.00
IGL00907:Lamc2 APN 1 153,144,651 (GRCm38) missense probably benign 0.32
IGL02026:Lamc2 APN 1 153,144,736 (GRCm38) splice site probably benign
IGL02335:Lamc2 APN 1 153,166,216 (GRCm38) missense probably benign 0.00
IGL02568:Lamc2 APN 1 153,166,262 (GRCm38) missense possibly damaging 0.91
IGL02640:Lamc2 APN 1 153,152,057 (GRCm38) missense probably damaging 0.99
IGL02801:Lamc2 APN 1 153,136,783 (GRCm38) missense probably benign 0.10
IGL02827:Lamc2 APN 1 153,139,781 (GRCm38) missense probably damaging 1.00
IGL03240:Lamc2 APN 1 153,124,125 (GRCm38) missense probably damaging 1.00
IGL03245:Lamc2 APN 1 153,133,757 (GRCm38) splice site probably null
abasement UTSW 1 153,127,025 (GRCm38) missense probably null 0.86
ANU74:Lamc2 UTSW 1 153,131,835 (GRCm38) missense probably benign 0.00
R0279:Lamc2 UTSW 1 153,130,696 (GRCm38) missense probably benign 0.01
R0528:Lamc2 UTSW 1 153,124,094 (GRCm38) missense probably damaging 1.00
R0597:Lamc2 UTSW 1 153,133,621 (GRCm38) missense probably benign 0.02
R0650:Lamc2 UTSW 1 153,143,876 (GRCm38) missense possibly damaging 0.88
R0826:Lamc2 UTSW 1 153,152,082 (GRCm38) missense probably damaging 1.00
R1015:Lamc2 UTSW 1 153,166,199 (GRCm38) missense possibly damaging 0.53
R1172:Lamc2 UTSW 1 153,166,287 (GRCm38) missense probably damaging 1.00
R1308:Lamc2 UTSW 1 153,150,818 (GRCm38) missense probably damaging 1.00
R1521:Lamc2 UTSW 1 153,166,263 (GRCm38) missense probably benign 0.11
R1525:Lamc2 UTSW 1 153,130,756 (GRCm38) missense probably benign 0.00
R1602:Lamc2 UTSW 1 153,127,028 (GRCm38) missense probably benign 0.00
R1631:Lamc2 UTSW 1 153,158,934 (GRCm38) missense possibly damaging 0.95
R1633:Lamc2 UTSW 1 153,141,698 (GRCm38) nonsense probably null
R1832:Lamc2 UTSW 1 153,166,187 (GRCm38) missense possibly damaging 0.72
R1978:Lamc2 UTSW 1 153,133,597 (GRCm38) critical splice donor site probably null
R1996:Lamc2 UTSW 1 153,154,470 (GRCm38) missense possibly damaging 0.84
R2046:Lamc2 UTSW 1 153,141,765 (GRCm38) missense probably benign 0.01
R2107:Lamc2 UTSW 1 153,154,386 (GRCm38) splice site probably benign
R2130:Lamc2 UTSW 1 153,127,124 (GRCm38) missense probably damaging 1.00
R2182:Lamc2 UTSW 1 153,126,866 (GRCm38) missense possibly damaging 0.46
R2207:Lamc2 UTSW 1 153,133,706 (GRCm38) missense possibly damaging 0.68
R2218:Lamc2 UTSW 1 153,130,779 (GRCm38) missense probably benign 0.21
R3772:Lamc2 UTSW 1 153,124,251 (GRCm38) missense probably benign
R4616:Lamc2 UTSW 1 153,166,169 (GRCm38) missense probably damaging 1.00
R4874:Lamc2 UTSW 1 153,154,395 (GRCm38) missense probably null 1.00
R4939:Lamc2 UTSW 1 153,126,836 (GRCm38) missense probably damaging 1.00
R4985:Lamc2 UTSW 1 153,136,805 (GRCm38) missense probably benign
R5544:Lamc2 UTSW 1 153,124,053 (GRCm38) missense possibly damaging 0.93
R5632:Lamc2 UTSW 1 153,131,890 (GRCm38) missense probably damaging 1.00
R5771:Lamc2 UTSW 1 153,141,594 (GRCm38) missense probably benign 0.04
R5811:Lamc2 UTSW 1 153,166,253 (GRCm38) missense possibly damaging 0.53
R6058:Lamc2 UTSW 1 153,136,829 (GRCm38) missense probably benign 0.01
R6130:Lamc2 UTSW 1 153,136,777 (GRCm38) missense probably benign 0.01
R6137:Lamc2 UTSW 1 153,166,153 (GRCm38) missense possibly damaging 0.90
R6994:Lamc2 UTSW 1 153,136,762 (GRCm38) missense probably benign 0.18
R6995:Lamc2 UTSW 1 153,136,762 (GRCm38) missense probably benign 0.18
R6997:Lamc2 UTSW 1 153,136,762 (GRCm38) missense probably benign 0.18
R7000:Lamc2 UTSW 1 153,166,127 (GRCm38) missense possibly damaging 0.72
R7018:Lamc2 UTSW 1 153,136,742 (GRCm38) missense probably benign 0.00
R7145:Lamc2 UTSW 1 153,130,772 (GRCm38) missense possibly damaging 0.95
R7148:Lamc2 UTSW 1 153,185,984 (GRCm38) missense probably benign 0.01
R7171:Lamc2 UTSW 1 153,139,749 (GRCm38) missense probably damaging 1.00
R7640:Lamc2 UTSW 1 153,136,804 (GRCm38) missense possibly damaging 0.79
R7684:Lamc2 UTSW 1 153,127,025 (GRCm38) missense probably null 0.86
R7712:Lamc2 UTSW 1 153,133,611 (GRCm38) missense possibly damaging 0.81
R7940:Lamc2 UTSW 1 153,130,775 (GRCm38) nonsense probably null
R8153:Lamc2 UTSW 1 153,124,104 (GRCm38) frame shift probably null
R8211:Lamc2 UTSW 1 153,166,278 (GRCm38) missense probably damaging 1.00
R8486:Lamc2 UTSW 1 153,158,891 (GRCm38) missense probably benign
R8739:Lamc2 UTSW 1 153,144,653 (GRCm38) nonsense probably null
R8744:Lamc2 UTSW 1 153,143,738 (GRCm38) missense probably benign 0.19
R8911:Lamc2 UTSW 1 153,152,127 (GRCm38) missense probably damaging 1.00
R9435:Lamc2 UTSW 1 153,137,326 (GRCm38) missense probably benign 0.00
R9457:Lamc2 UTSW 1 153,139,854 (GRCm38) missense probably benign
RF024:Lamc2 UTSW 1 153,152,055 (GRCm38) missense possibly damaging 0.70
Z1176:Lamc2 UTSW 1 153,133,621 (GRCm38) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CAACGCTATCTGCCTCACTG -3'
(R):5'- AGATCAACAGTCGACTTCGG -3'

Sequencing Primer
(F):5'- TGCCAGCATCAGGAAGC -3'
(R):5'- AGTCGACTTCGGCCCTTGATG -3'
Posted On 2019-11-12