Incidental Mutation 'R1978:Lamc2'
ID 221935
Institutional Source Beutler Lab
Gene Symbol Lamc2
Ensembl Gene ENSMUSG00000026479
Gene Name laminin, gamma 2
Synonyms nicein, 100kDa
MMRRC Submission 039991-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.485) question?
Stock # R1978 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 152998502-153062193 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 153009343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027753] [ENSMUST00000185356]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000027753
SMART Domains Protein: ENSMUSP00000027753
Gene: ENSMUSG00000026479

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 null
Transcript: ENSMUST00000185356
SMART Domains Protein: ENSMUSP00000140514
Gene: ENSMUSG00000026479

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,880 (GRCm39) C205* probably null Het
4921539E11Rik T A 4: 103,127,961 (GRCm39) T55S possibly damaging Het
Akap12 A G 10: 4,263,855 (GRCm39) D88G probably benign Het
Ankrd53 C A 6: 83,740,185 (GRCm39) F84L probably damaging Het
Apol7b A C 15: 77,307,539 (GRCm39) F319V probably damaging Het
Bsn A G 9: 107,991,748 (GRCm39) S1335P probably benign Het
Cep192 T C 18: 67,936,228 (GRCm39) probably null Het
Cfap57 A G 4: 118,450,329 (GRCm39) S598P probably benign Het
Commd8 T C 5: 72,322,842 (GRCm39) H25R probably damaging Het
Crisp4 T C 1: 18,198,889 (GRCm39) I143V probably benign Het
Cyp4a12b A T 4: 115,295,342 (GRCm39) T483S probably benign Het
Dbx2 C T 15: 95,530,234 (GRCm39) M244I probably damaging Het
Dnah6 T G 6: 73,098,953 (GRCm39) H1982P possibly damaging Het
Fam220a C A 5: 143,548,882 (GRCm39) P98Q probably damaging Het
Ggnbp1 A G 17: 27,248,517 (GRCm39) K29E possibly damaging Het
Gm14569 A C X: 35,695,781 (GRCm39) M976R probably benign Het
Hck G T 2: 152,971,776 (GRCm39) W112C probably damaging Het
Heatr5a A T 12: 51,986,441 (GRCm39) S591T possibly damaging Het
Hhat A G 1: 192,399,415 (GRCm39) S242P probably benign Het
Hnrnpll A G 17: 80,351,947 (GRCm39) S333P probably benign Het
Hoxc6 T C 15: 102,918,439 (GRCm39) probably null Het
Inpp5j G A 11: 3,452,150 (GRCm39) P367S probably damaging Het
Loxhd1 T A 18: 77,409,338 (GRCm39) I194N possibly damaging Het
Miga1 CCAGGGCAG CCAG 3: 152,040,941 (GRCm39) probably null Het
Mkln1 C T 6: 31,467,465 (GRCm39) Q60* probably null Het
Muc21 T A 17: 35,933,857 (GRCm39) probably benign Het
Mybph C A 1: 134,124,734 (GRCm39) H185N probably benign Het
Myo1g T C 11: 6,470,829 (GRCm39) D9G possibly damaging Het
Myo6 A T 9: 80,136,207 (GRCm39) D110V probably damaging Het
Ncoa7 A G 10: 30,567,295 (GRCm39) V412A probably benign Het
Neb T C 2: 52,177,357 (GRCm39) K1328R probably damaging Het
Olfm5 T A 7: 103,813,948 (GRCm39) Q22L unknown Het
Or10ak7 A T 4: 118,791,381 (GRCm39) Y221* probably null Het
Or4d11 T C 19: 12,013,705 (GRCm39) T134A probably benign Het
Or5j1 C T 2: 86,879,179 (GRCm39) V134M possibly damaging Het
Or6b3 C A 1: 92,439,499 (GRCm39) G84C probably damaging Het
Or6p1 T A 1: 174,258,657 (GRCm39) I221N probably damaging Het
Or7a39 A G 10: 78,715,114 (GRCm39) Y36C probably damaging Het
P3h1 A T 4: 119,105,173 (GRCm39) Q717L probably null Het
Pclo T C 5: 14,763,809 (GRCm39) I4094T unknown Het
Pfdn6 G A 17: 34,158,051 (GRCm39) R73W probably benign Het
Phyhipl A C 10: 70,395,591 (GRCm39) M205R possibly damaging Het
Pitpnm1 C T 19: 4,157,973 (GRCm39) probably null Het
Plcg1 A G 2: 160,594,498 (GRCm39) probably null Het
Pnldc1 A G 17: 13,125,392 (GRCm39) S81P possibly damaging Het
Pno1 T C 11: 17,154,519 (GRCm39) I221V possibly damaging Het
Porcn A G X: 8,070,540 (GRCm39) V75A probably damaging Het
Prkcg T A 7: 3,353,862 (GRCm39) C69S probably damaging Het
Rbbp6 G T 7: 122,598,711 (GRCm39) probably benign Het
Resf1 T A 6: 149,227,930 (GRCm39) N325K probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scly A G 1: 91,247,891 (GRCm39) D413G probably damaging Het
Scn11a G A 9: 119,609,861 (GRCm39) R996* probably null Het
Skic3 T C 13: 76,282,934 (GRCm39) V752A probably benign Het
Slc6a13 A T 6: 121,309,332 (GRCm39) D281V probably damaging Het
Slfn5 T C 11: 82,847,442 (GRCm39) V109A probably benign Het
Smyd1 A T 6: 71,289,703 (GRCm39) probably null Het
Snx29 T A 16: 11,185,588 (GRCm39) M57K probably benign Het
Stag1 T G 9: 100,770,139 (GRCm39) I603S probably benign Het
Svep1 C A 4: 58,097,292 (GRCm39) C1417F possibly damaging Het
Tbc1d23 T C 16: 57,009,714 (GRCm39) I392V probably benign Het
Tchh T C 3: 93,354,106 (GRCm39) L1182P unknown Het
Tle3 T A 9: 61,301,915 (GRCm39) V108E probably damaging Het
Tmem144 T C 3: 79,732,707 (GRCm39) probably null Het
Tpr T G 1: 150,295,658 (GRCm39) L894V possibly damaging Het
Trappc9 A T 15: 72,871,874 (GRCm39) V472E probably damaging Het
Trim38 T C 13: 23,975,081 (GRCm39) V340A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r12 T A 6: 57,136,494 (GRCm39) I197N possibly damaging Het
Vmn1r26 T C 6: 57,986,111 (GRCm39) Y26C possibly damaging Het
Vwa3a A G 7: 120,358,177 (GRCm39) I83V probably null Het
Xirp1 C T 9: 119,847,657 (GRCm39) E409K probably benign Het
Zc3h14 T G 12: 98,730,181 (GRCm39) I46R probably damaging Het
Zfp976 A G 7: 42,263,265 (GRCm39) C191R 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
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'- TGGGTTACCAGCCATTTCC -3'
(R):5'- TTCCCGCAAGAAAGATTTATGTTCC -3'

Sequencing Primer
(F):5'- TCCCAGCACAGTAGTCAGTTG -3'
(R):5'- GTGCTGATCTTTCTACGAAAACC -3'
Posted On 2014-08-25