Incidental Mutation 'R6058:Lamc2'
ID 483030
Institutional Source Beutler Lab
Gene Symbol Lamc2
Ensembl Gene ENSMUSG00000026479
Gene Name laminin, gamma 2
Synonyms nicein, 100kDa
MMRRC Submission 044224-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.460) question?
Stock # R6058 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 152998502-153062193 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 153012575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 700 (D700N)
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: D700N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000027753
Gene: ENSMUSG00000026479
AA Change: D700N

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: ENSMUST00000185356
AA Change: D700N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000140514
Gene: ENSMUSG00000026479
AA Change: D700N

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Adamts20 G A 15: 94,227,928 (GRCm39) R1040* probably null Het
Akt1 A G 12: 112,628,634 (GRCm39) L52P probably damaging Het
Alk T A 17: 72,176,742 (GRCm39) T1521S probably benign Het
Armt1 A G 10: 4,403,488 (GRCm39) N191S probably damaging Het
Ascl1 T G 10: 87,328,562 (GRCm39) N130T probably damaging Het
Bahcc1 T G 11: 120,178,211 (GRCm39) S2257A probably damaging Het
Cd86 T C 16: 36,449,377 (GRCm39) M7V possibly damaging Het
Cep57 A T 9: 13,722,057 (GRCm39) S304R possibly damaging Het
Cep57l1 A T 10: 41,616,918 (GRCm39) I123N possibly damaging Het
Cers6 A G 2: 68,692,008 (GRCm39) N10S probably benign Het
Chrng A G 1: 87,139,074 (GRCm39) D475G probably damaging Het
Crabp1 T A 9: 54,680,129 (GRCm39) V128E probably damaging Het
Csnk2a1-ps3 T C 1: 156,352,425 (GRCm39) Y209H probably damaging Het
Dcdc2a T C 13: 25,240,354 (GRCm39) V34A possibly damaging Het
Eeig1 G A 2: 32,450,102 (GRCm39) V117I probably benign Het
Fbn1 A G 2: 125,308,532 (GRCm39) C177R possibly damaging Het
Fras1 A G 5: 96,857,844 (GRCm39) D2046G probably benign Het
Glul T C 1: 153,783,087 (GRCm39) I220T probably benign Het
Gpc6 C T 14: 118,202,182 (GRCm39) T464M probably damaging Het
Gpm6a T C 8: 55,511,833 (GRCm39) S236P probably damaging Het
H2-K2 G T 17: 34,218,304 (GRCm39) T204K probably benign Het
H2-K2 T C 17: 34,218,305 (GRCm39) T204A probably benign Het
Hecw2 T C 1: 53,963,135 (GRCm39) H792R possibly damaging Het
Herc4 T A 10: 63,110,821 (GRCm39) I244K possibly damaging Het
Hsd11b2 G T 8: 106,249,966 (GRCm39) R359L possibly damaging Het
Igsf9 G A 1: 172,312,456 (GRCm39) E56K probably damaging Het
Il9 T C 13: 56,628,495 (GRCm39) T65A possibly damaging Het
Kcnip1 T C 11: 33,592,478 (GRCm39) T102A probably damaging Het
L3mbtl2 T C 15: 81,551,555 (GRCm39) S74P probably benign Het
Ldb2 T C 5: 44,633,905 (GRCm39) T322A possibly damaging Het
Lix1 A T 17: 17,664,012 (GRCm39) I117F probably damaging Het
Map2 T A 1: 66,454,573 (GRCm39) D1154E probably benign Het
Marco A T 1: 120,404,435 (GRCm39) I425N probably damaging Het
Mark4 T C 7: 19,160,310 (GRCm39) E650G probably benign Het
Mink1 A G 11: 70,502,546 (GRCm39) T1086A possibly damaging Het
Nxf1 G A 19: 8,745,186 (GRCm39) V479M probably damaging Het
Or10v1 T A 19: 11,873,388 (GRCm39) M1K probably null Het
Or11g2 T C 14: 50,856,158 (GRCm39) F160L probably benign Het
Or2n1e A G 17: 38,586,150 (GRCm39) T163A probably damaging Het
Or5h23 T C 16: 58,906,273 (GRCm39) D191G probably damaging Het
Or5h23 A G 16: 58,906,792 (GRCm39) V18A probably benign Het
Or6c5 T C 10: 129,074,329 (GRCm39) S104P probably damaging Het
Otx2 T C 14: 48,896,215 (GRCm39) D281G probably damaging Het
Pcdhga3 A T 18: 37,808,141 (GRCm39) D198V probably damaging Het
Ppp1r13l T C 7: 19,104,500 (GRCm39) V273A probably benign Het
Ppp6r2 T C 15: 89,137,455 (GRCm39) probably null Het
Pramel51 T A 12: 88,143,995 (GRCm39) I273F possibly damaging Het
Prg4 C T 1: 150,327,197 (GRCm39) G873D probably damaging Het
Ptprq T C 10: 107,471,135 (GRCm39) N1422S probably benign Het
Rbm27 A T 18: 42,460,570 (GRCm39) K839M probably damaging Het
Rere A T 4: 150,553,255 (GRCm39) N149I probably damaging Het
Ret A G 6: 118,156,280 (GRCm39) L340S probably benign Het
Sel1l2 T A 2: 140,082,889 (GRCm39) D583V possibly damaging Het
Shroom1 A T 11: 53,354,308 (GRCm39) D76V possibly damaging Het
Slc5a3 C A 16: 91,875,963 (GRCm39) S673R probably benign Het
Spink1 A T 18: 43,861,247 (GRCm39) I74N probably damaging Het
Tbc1d1 T A 5: 64,435,352 (GRCm39) S497T probably damaging Het
Trim3 C T 7: 105,260,278 (GRCm39) R741Q probably damaging Het
Ttn A G 2: 76,747,022 (GRCm39) C4676R probably benign Het
Ubqlnl G A 7: 103,797,959 (GRCm39) P513S probably benign Het
Unc13d C T 11: 115,964,394 (GRCm39) probably null Het
Vmn1r125 TGG TG 7: 21,006,144 (GRCm39) probably null Het
Vmn2r7 A T 3: 64,632,436 (GRCm39) C9S probably benign Het
Xdh T A 17: 74,213,264 (GRCm39) M829L probably damaging Het
Zcrb1 A G 15: 93,285,463 (GRCm39) F173L probably benign Het
Zfp41 T C 15: 75,490,372 (GRCm39) V108A probably damaging Het
Zfp438 T C 18: 5,213,209 (GRCm39) E583G probably damaging Het
Zfp628 T C 7: 4,923,917 (GRCm39) L713P probably damaging Het
Zfp664 T A 5: 124,963,042 (GRCm39) C145* probably null Het
Zfp683 T C 4: 133,786,042 (GRCm39) C390R probably damaging Het
Zfp941 G A 7: 140,392,010 (GRCm39) P450S probably damaging Het
Other mutations in Lamc2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1521:Lamc2 UTSW 1 153,042,009 (GRCm39) missense probably benign 0.11
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
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'- TCCAACATGGCCACAGTAAGTG -3'
(R):5'- ATTCTCCTGGAACCTGAATGACAG -3'

Sequencing Primer
(F):5'- TAAGTGGACACGCTAACCAGGC -3'
(R):5'- CAAATATTTGTCACCGACGTTTTTC -3'
Posted On 2017-07-14