Incidental Mutation 'R1832:Lamc2'
ID 204832
Institutional Source Beutler Lab
Gene Symbol Lamc2
Ensembl Gene ENSMUSG00000026479
Gene Name laminin, gamma 2
Synonyms nicein, 100kDa
MMRRC Submission 039859-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.485) question?
Stock # R1832 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 152998502-153062193 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 153041933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 67 (R67Q)
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: R67Q

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027753
Gene: ENSMUSG00000026479
AA Change: R67Q

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 possibly damaging
Transcript: ENSMUST00000185356
AA Change: R67Q

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140514
Gene: ENSMUSG00000026479
AA Change: R67Q

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 noncoding transcript
Transcript: ENSMUST00000188831
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.6%
  • 20x: 90.7%
Validation Efficiency 100% (82/82)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,509 (GRCm39) D143V unknown Het
Abca8a A T 11: 109,962,277 (GRCm39) N525K probably damaging Het
Abhd12 T A 2: 150,690,338 (GRCm39) D119V probably damaging Het
Adamts20 A T 15: 94,184,225 (GRCm39) M1526K probably benign Het
Ankdd1a A T 9: 65,411,771 (GRCm39) probably null Het
Ankrd1 C T 19: 36,092,378 (GRCm39) C283Y possibly damaging Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Bhlhe22 G A 3: 18,109,139 (GRCm39) C63Y probably damaging Het
Bmp8a A T 4: 123,218,885 (GRCm39) probably benign Het
Ccdc148 A T 2: 58,891,911 (GRCm39) S235T probably damaging Het
Ccdc88b G A 19: 6,830,900 (GRCm39) Q681* probably null Het
Cep104 T A 4: 154,087,003 (GRCm39) V842E probably benign Het
Chac2 T C 11: 30,927,568 (GRCm39) N117S probably benign Het
Cimap3 C T 3: 105,921,912 (GRCm39) E4K possibly damaging Het
Cldn8 T A 16: 88,359,746 (GRCm39) I60F probably benign Het
Col16a1 G A 4: 129,970,850 (GRCm39) probably null Het
Col4a1 A G 8: 11,264,644 (GRCm39) probably benign Het
Cyp2a4 G T 7: 26,011,635 (GRCm39) E285D probably damaging Het
Cyp4a31 G A 4: 115,426,928 (GRCm39) G176D probably benign Het
Dmxl2 A C 9: 54,368,233 (GRCm39) Y246D probably damaging Het
Dync1h1 A G 12: 110,580,493 (GRCm39) K118R probably damaging Het
Dync2i1 T A 12: 116,171,363 (GRCm39) S958C probably damaging Het
Eif3h T C 15: 51,728,832 (GRCm39) T8A possibly damaging Het
Fbh1 G T 2: 11,772,211 (GRCm39) L157I probably benign Het
Fbxo40 C A 16: 36,789,218 (GRCm39) G631* probably null Het
Gabrb1 T A 5: 72,279,281 (GRCm39) probably null Het
Galc A G 12: 98,200,499 (GRCm39) probably null Het
Garin2 G A 12: 78,762,280 (GRCm39) probably benign Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Igkv13-54-1 A T 6: 69,594,277 (GRCm39) M31L probably benign Het
Lcn10 A G 2: 25,575,151 (GRCm39) D173G probably damaging Het
Llgl2 G T 11: 115,741,926 (GRCm39) R656L probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc66 G A 5: 73,764,769 (GRCm39) S758L possibly damaging Het
Ly6d T C 15: 74,634,615 (GRCm39) K46E probably damaging Het
Map3k5 A G 10: 19,975,306 (GRCm39) N88D probably damaging Het
Mertk A T 2: 128,604,132 (GRCm39) E422V probably benign Het
Mixl1 A G 1: 180,522,296 (GRCm39) V195A probably benign Het
Nmnat3 T C 9: 98,281,521 (GRCm39) V41A probably damaging Het
Or1r1 A T 11: 73,875,319 (GRCm39) N38K probably damaging Het
Or2a7 A G 6: 43,151,834 (GRCm39) R305G probably benign Het
Or7g34 A G 9: 19,478,492 (GRCm39) Y63H possibly damaging Het
Pappa2 T A 1: 158,684,886 (GRCm39) E751V probably damaging Het
Pcsk2 A G 2: 143,635,189 (GRCm39) S355G probably damaging Het
Pdzd2 A G 15: 12,390,134 (GRCm39) V821A probably damaging Het
Plxna4 A C 6: 32,174,761 (GRCm39) D1109E probably benign Het
Ppard A G 17: 28,516,084 (GRCm39) M103V probably benign Het
Pramel51 T C 12: 88,145,218 (GRCm39) E44G possibly damaging Het
Ralgapa1 T C 12: 55,804,752 (GRCm39) T515A probably benign Het
Rin2 A G 2: 145,703,091 (GRCm39) I596V possibly damaging Het
Rnls A G 19: 33,145,895 (GRCm39) S75P possibly damaging Het
Rsph10b A T 5: 143,903,997 (GRCm39) Y236F possibly damaging Het
Runx1t1 C T 4: 13,835,628 (GRCm39) probably benign Het
Sardh A G 2: 27,125,581 (GRCm39) V311A possibly damaging Het
Sbno2 G T 10: 79,896,439 (GRCm39) Y889* probably null Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sema4g T A 19: 44,987,456 (GRCm39) V534E probably benign Het
Shoc1 T G 4: 59,066,441 (GRCm39) I768L probably benign Het
Slc10a1 G A 12: 81,000,446 (GRCm39) S351F probably benign Het
Slc19a3 A T 1: 83,000,468 (GRCm39) V183E probably damaging Het
Slc25a12 A G 2: 71,164,054 (GRCm39) Y74H possibly damaging Het
Slc6a19 T A 13: 73,841,069 (GRCm39) I114L probably benign Het
Smpd2 A T 10: 41,364,232 (GRCm39) C189S probably benign Het
Spon1 T A 7: 113,616,018 (GRCm39) V295D probably benign Het
Tet3 A G 6: 83,380,627 (GRCm39) S514P probably benign Het
Tnk1 T C 11: 69,747,754 (GRCm39) I49M probably damaging Het
Trim80 A G 11: 115,337,619 (GRCm39) T431A probably benign Het
Vgf A T 5: 137,060,153 (GRCm39) Q105L possibly damaging Het
Vmn1r37 G T 6: 66,708,780 (GRCm39) L135F probably benign Het
Vps37d C T 5: 135,102,594 (GRCm39) A128T possibly damaging Het
Wwp1 T C 4: 19,650,197 (GRCm39) D323G probably benign Het
Zfp456 T A 13: 67,515,482 (GRCm39) I75L probably benign Het
Zfp990 A G 4: 145,264,780 (GRCm39) I593V possibly 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
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'- ACCCAGTTGTGCAACATCTCTC -3'
(R):5'- TAGTTTAAGTCATGTTAGCCCATGC -3'

Sequencing Primer
(F):5'- AGTTGTGCAACATCTCTCTAGTC -3'
(R):5'- GTCATGTTAGCCCATGCATAACAG -3'
Posted On 2014-06-23