Incidental Mutation 'R7000:Lamc2'
ID 544433
Institutional Source Beutler Lab
Gene Symbol Lamc2
Ensembl Gene ENSMUSG00000026479
Gene Name laminin, gamma 2
Synonyms nicein, 100kDa
MMRRC Submission 045105-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.485) question?
Stock # R7000 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 152998502-153062193 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153041873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 87 (H87L)
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: H87L

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027753
Gene: ENSMUSG00000026479
AA Change: H87L

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: H87L

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140514
Gene: ENSMUSG00000026479
AA Change: H87L

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,752,823 (GRCm39) A525T probably benign Het
Abcc6 A G 7: 45,654,946 (GRCm39) I515T possibly damaging Het
Abi1 G A 2: 22,832,053 (GRCm39) A420V probably damaging Het
Abtb2 A T 2: 103,542,787 (GRCm39) I887F possibly damaging Het
Acap3 G A 4: 155,988,306 (GRCm39) G602S possibly damaging Het
Auts2 T A 5: 131,469,056 (GRCm39) T754S probably benign Het
AW551984 T C 9: 39,512,085 (GRCm39) R12G probably benign Het
Bcan G A 3: 87,895,686 (GRCm39) R817* probably null Het
Bmp10 A G 6: 87,411,175 (GRCm39) T323A probably benign Het
Bpnt1 T C 1: 185,082,053 (GRCm39) L165P probably damaging Het
Casz1 G A 4: 149,013,693 (GRCm39) A86T probably damaging Het
Ccn3 A T 15: 54,615,743 (GRCm39) T303S probably damaging Het
Cd1d2 T C 3: 86,895,080 (GRCm39) F189L probably benign Het
Cep72 A G 13: 74,206,444 (GRCm39) M126T probably damaging Het
Cep85l T A 10: 53,174,295 (GRCm39) T483S probably damaging Het
Cfi C A 3: 129,666,522 (GRCm39) T415K probably damaging Het
Chrna7 A G 7: 62,755,787 (GRCm39) L253S probably damaging Het
Col4a4 T C 1: 82,475,051 (GRCm39) H596R unknown Het
Cplx3 G C 9: 57,523,231 (GRCm39) Q109E probably benign Het
Cyp2j8 A T 4: 96,335,588 (GRCm39) M402K probably benign Het
Cyp3a16 T A 5: 145,399,980 (GRCm39) probably null Het
Dhdh T C 7: 45,124,698 (GRCm39) K332E possibly damaging Het
Dnah11 C A 12: 117,981,396 (GRCm39) C2590F probably damaging Het
Dnah17 T C 11: 117,916,528 (GRCm39) probably null Het
Dtx1 A G 5: 120,833,148 (GRCm39) Y97H probably damaging Het
Duxf1 T C 10: 58,058,814 (GRCm39) T647A possibly damaging Het
Elf1 A G 14: 79,808,208 (GRCm39) D183G probably damaging Het
Esyt3 A C 9: 99,204,206 (GRCm39) L94R probably damaging Het
Exoc3 A G 13: 74,330,285 (GRCm39) Y521H probably benign Het
F5 C T 1: 164,007,075 (GRCm39) T293M probably damaging Het
Fam118b A T 9: 35,146,560 (GRCm39) H102Q probably damaging Het
Flad1 T C 3: 89,309,549 (GRCm39) probably benign Het
Flrt3 G A 2: 140,502,804 (GRCm39) R275* probably null Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Fscn1 T A 5: 142,946,382 (GRCm39) V60E probably damaging Het
Gm17175 A T 14: 51,811,418 (GRCm39) M1K probably null Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gprc6a T C 10: 51,491,143 (GRCm39) S694G probably benign Het
Iglon5 A T 7: 43,126,254 (GRCm39) probably null Het
Iqch T C 9: 63,361,892 (GRCm39) T874A probably benign Het
Ldlrad1 T A 4: 107,066,777 (GRCm39) D37E probably benign Het
Loxhd1 T C 18: 77,460,129 (GRCm39) probably null Het
Lxn T G 3: 67,369,704 (GRCm39) E60D probably benign Het
Man2b2 A G 5: 36,979,213 (GRCm39) W276R probably damaging Het
Mast1 T C 8: 85,655,598 (GRCm39) Y182C probably damaging Het
Mroh8 C T 2: 157,058,897 (GRCm39) R923Q probably benign Het
Obscn A G 11: 59,026,864 (GRCm39) L113P probably damaging Het
Ocln C T 13: 100,671,470 (GRCm39) probably null Het
Oog2 A T 4: 143,921,897 (GRCm39) Q269L probably damaging Het
Or52e8 G A 7: 104,624,338 (GRCm39) P285S probably damaging Het
Or5b113 A G 19: 13,341,987 (GRCm39) probably benign Het
Osbpl3 A G 6: 50,274,137 (GRCm39) S826P probably damaging Het
Otogl T C 10: 107,615,692 (GRCm39) N1869S probably benign Het
Pamr1 G A 2: 102,441,968 (GRCm39) D186N probably damaging Het
Pcdhga8 T A 18: 37,859,946 (GRCm39) I334K probably benign Het
Pde7b A G 10: 20,319,038 (GRCm39) S95P probably damaging Het
Pik3cg A T 12: 32,242,128 (GRCm39) V994E probably damaging Het
Pkp1 T C 1: 135,817,692 (GRCm39) M148V probably benign Het
Plbd1 T G 6: 136,589,836 (GRCm39) K461Q probably benign Het
Pmfbp1 A G 8: 110,257,221 (GRCm39) E594G possibly damaging Het
Pold3 A T 7: 99,755,865 (GRCm39) H60Q probably damaging Het
Polr3gl C T 3: 96,487,783 (GRCm39) R52Q possibly damaging Het
Ptgds A G 2: 25,357,828 (GRCm39) probably null Het
Scarb2 T C 5: 92,601,934 (GRCm39) D320G probably benign Het
Sdk2 T C 11: 113,693,995 (GRCm39) Y1812C probably damaging Het
Skint8 C A 4: 111,794,222 (GRCm39) T204N probably benign Het
Slc23a2 T C 2: 131,936,123 (GRCm39) Q49R possibly damaging Het
Slc26a7 T C 4: 14,552,476 (GRCm39) Q227R probably benign Het
Sntn C T 14: 13,679,108 (GRCm38) T94I probably damaging Het
Spem2 C T 11: 69,708,582 (GRCm39) G128S probably benign Het
Supt16 A T 14: 52,408,907 (GRCm39) S822R probably damaging Het
Syn3 T C 10: 85,916,116 (GRCm39) Y290C probably damaging Het
Tdrd6 C G 17: 43,938,599 (GRCm39) E816D probably benign Het
Tln1 A T 4: 43,556,302 (GRCm39) M72K probably damaging Het
Tlnrd1 A G 7: 83,531,987 (GRCm39) V148A probably damaging Het
Trim24 C A 6: 37,935,613 (GRCm39) T832K probably benign Het
Ubr4 C T 4: 139,141,715 (GRCm39) A1267V probably damaging Het
Usp17lb A T 7: 104,490,492 (GRCm39) M145K probably damaging Het
Vmn1r178 T A 7: 23,593,762 (GRCm39) M270K probably benign Het
Vmn2r70 A T 7: 85,208,819 (GRCm39) C553S probably damaging Het
Vps37c G T 19: 10,687,693 (GRCm39) E51D probably damaging Het
Zfp62 T G 11: 49,107,206 (GRCm39) Y432* probably null 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
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
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'- CTGCACTAGAATTCAAACCGGC -3'
(R):5'- AGTCTGTGATTGCAATGGGAAG -3'

Sequencing Primer
(F):5'- GAATTCAAACCGGCTGACTCTGATG -3'
(R):5'- AAGTCCAGGCAATGTGTCTTTGATC -3'
Posted On 2019-05-13