Incidental Mutation 'R5062:Lamc3'
ID 386662
Institutional Source Beutler Lab
Gene Symbol Lamc3
Ensembl Gene ENSMUSG00000026840
Gene Name laminin gamma 3
Synonyms
MMRRC Submission 042652-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5062 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 31777303-31836551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31795679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 355 (T355S)
Ref Sequence ENSEMBL: ENSMUSP00000028187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028187] [ENSMUST00000138325]
AlphaFold Q9R0B6
Predicted Effect possibly damaging
Transcript: ENSMUST00000028187
AA Change: T355S

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028187
Gene: ENSMUSG00000026840
AA Change: T355S

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
LamNT 38 278 4.32e-115 SMART
EGF_Lam 280 333 4.19e-8 SMART
EGF_Lam 336 389 4.81e-8 SMART
EGF_Lam 392 436 2.52e-11 SMART
EGF_Lam 439 486 1.16e-10 SMART
low complexity region 538 549 N/A INTRINSIC
low complexity region 591 603 N/A INTRINSIC
EGF_like 649 716 3.69e0 SMART
EGF_Lam 719 764 3.1e-11 SMART
EGF_Lam 767 819 3.43e-4 SMART
EGF_Lam 822 875 2.16e-10 SMART
EGF_Lam 878 925 6.29e-12 SMART
EGF_Lam 928 973 1.62e-14 SMART
EGF_Lam 976 1021 1.02e-6 SMART
low complexity region 1032 1046 N/A INTRINSIC
coiled coil region 1119 1150 N/A INTRINSIC
low complexity region 1234 1247 N/A INTRINSIC
low complexity region 1397 1407 N/A INTRINSIC
coiled coil region 1444 1467 N/A INTRINSIC
coiled coil region 1528 1575 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000138325
AA Change: T355S

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118745
Gene: ENSMUSG00000026840
AA Change: T355S

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
LamNT 38 278 4.32e-115 SMART
EGF_Lam 280 333 4.19e-8 SMART
EGF_Lam 336 389 4.81e-8 SMART
EGF_Lam 392 436 2.52e-11 SMART
EGF_Lam 439 486 1.16e-10 SMART
low complexity region 538 549 N/A INTRINSIC
low complexity region 591 603 N/A INTRINSIC
EGF_like 649 716 3.69e0 SMART
EGF_Lam 719 764 3.1e-11 SMART
EGF_Lam 767 819 3.43e-4 SMART
EGF_Lam 822 875 2.16e-10 SMART
EGF_Lam 878 925 6.29e-12 SMART
EGF_Lam 928 973 1.62e-14 SMART
EGF_Lam 976 1021 1.02e-6 SMART
low complexity region 1032 1046 N/A INTRINSIC
coiled coil region 1119 1150 N/A INTRINSIC
low complexity region 1245 1258 N/A INTRINSIC
low complexity region 1408 1418 N/A INTRINSIC
coiled coil region 1455 1478 N/A INTRINSIC
Meta Mutation Damage Score 0.0751 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency 100% (79/79)
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 are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form 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 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal amacrine cell morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,067,892 (GRCm39) I1593N probably benign Het
Akr1b10 G T 6: 34,369,041 (GRCm39) K173N probably damaging Het
Artn A T 4: 117,784,873 (GRCm39) L3Q probably damaging Het
Asxl3 T A 18: 22,655,775 (GRCm39) S1262T possibly damaging Het
Atp6v0a4 A T 6: 38,051,118 (GRCm39) M420K probably benign Het
Bcam T A 7: 19,494,026 (GRCm39) T422S possibly damaging Het
Casp2 C T 6: 42,246,206 (GRCm39) probably benign Het
Ccdc137 A G 11: 120,353,341 (GRCm39) probably benign Het
Cd177 C A 7: 24,443,741 (GRCm39) A786S probably benign Het
Cdca4 T C 12: 112,785,483 (GRCm39) N82D probably benign Het
Clu A C 14: 66,217,177 (GRCm39) T337P probably damaging Het
Col6a3 A C 1: 90,707,074 (GRCm39) I2013S unknown Het
Cpne9 T A 6: 113,281,449 (GRCm39) M510K probably damaging Het
Cyp3a13 A C 5: 137,897,161 (GRCm39) N384K possibly damaging Het
Fam186a A C 15: 99,842,527 (GRCm39) I1239S possibly damaging Het
Fryl T C 5: 73,233,236 (GRCm39) E413G possibly damaging Het
Fscn2 A C 11: 120,257,575 (GRCm39) Y312S probably damaging Het
Fshr A T 17: 89,293,474 (GRCm39) C401* probably null Het
Glyat A C 19: 12,627,627 (GRCm39) Q74P probably damaging Het
Gm6158 A T 14: 24,120,158 (GRCm39) noncoding transcript Het
Grm7 A G 6: 110,623,097 (GRCm39) N90S probably damaging Het
Hectd1 A T 12: 51,791,662 (GRCm39) C2536S probably damaging Het
Herc3 C T 6: 58,832,745 (GRCm39) Q137* probably null Het
Kctd3 A C 1: 188,727,890 (GRCm39) probably benign Het
Klhl30 A G 1: 91,283,300 (GRCm39) T301A probably benign Het
Klra9 T C 6: 130,156,072 (GRCm39) K228E possibly damaging Het
Lcmt1 A C 7: 123,010,053 (GRCm39) probably null Het
Limch1 C T 5: 67,126,578 (GRCm39) P60S probably damaging Het
Lrfn2 A G 17: 49,377,528 (GRCm39) D203G probably damaging Het
Mc5r T C 18: 68,472,352 (GRCm39) L237P probably damaging Het
Mknk2 G A 10: 80,507,603 (GRCm39) R58W probably damaging Het
Mrgpra2b T C 7: 47,152,676 (GRCm39) probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Nae1 A T 8: 105,243,334 (GRCm39) C395S possibly damaging Het
Ncoa1 A G 12: 4,309,333 (GRCm39) M1321T probably damaging Het
Neb A C 2: 52,170,513 (GRCm39) F1720V possibly damaging Het
Nectin2 C T 7: 19,472,198 (GRCm39) V64I probably benign Het
Nisch T A 14: 30,894,397 (GRCm39) T1145S probably damaging Het
Nlrp5 A T 7: 23,135,335 (GRCm39) R1009* probably null Het
Or12d13 A T 17: 37,647,822 (GRCm39) H100Q probably damaging Het
Or4k15 T A 14: 50,364,894 (GRCm39) Y287N probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pak1ip1 A G 13: 41,161,621 (GRCm39) probably benign Het
Pcm1 T C 8: 41,712,297 (GRCm39) V189A probably damaging Het
Peak1 G T 9: 56,167,573 (GRCm39) N118K probably damaging Het
Phgdh T A 3: 98,235,655 (GRCm39) I121F probably damaging Het
Pi4ka G T 16: 17,127,261 (GRCm39) A1064E probably benign Het
Pkhd1 A C 1: 20,655,935 (GRCm39) C199W probably benign Het
Plat A G 8: 23,262,327 (GRCm39) D117G probably benign Het
Ppp2r2b C A 18: 42,821,526 (GRCm39) V211L possibly damaging Het
Ptgs1 A G 2: 36,127,294 (GRCm39) D60G probably damaging Het
Ryr2 T C 13: 11,715,240 (GRCm39) E2776G probably damaging Het
Sema4c C T 1: 36,592,059 (GRCm39) probably null Het
Sharpin T C 15: 76,231,811 (GRCm39) probably benign Het
Slamf6 A G 1: 171,764,100 (GRCm39) I164M possibly damaging Het
Slco1a7 A C 6: 141,713,180 (GRCm39) M67R possibly damaging Het
Spef1 A G 2: 131,015,201 (GRCm39) Y46H probably damaging Het
Spns1 G A 7: 125,973,501 (GRCm39) probably benign Het
Supt5 C T 7: 28,028,440 (GRCm39) probably null Het
Tbx5 T A 5: 119,974,987 (GRCm39) D3E probably damaging Het
Thbs1 T C 2: 117,951,718 (GRCm39) probably null Het
Tmem140 G A 6: 34,849,897 (GRCm39) V138M probably damaging Het
Tmem200a T A 10: 25,869,813 (GRCm39) D152V probably damaging Het
Tmem200b A G 4: 131,649,848 (GRCm39) D256G probably damaging Het
Tns1 A T 1: 73,992,023 (GRCm39) L885Q probably damaging Het
Umod G A 7: 119,071,644 (GRCm39) Q366* probably null Het
Vsir A G 10: 60,200,042 (GRCm39) I208V probably damaging Het
Zfp646 G A 7: 127,479,671 (GRCm39) R616H probably damaging Het
Other mutations in Lamc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00582:Lamc3 APN 2 31,790,593 (GRCm39) missense probably damaging 0.99
IGL00823:Lamc3 APN 2 31,808,533 (GRCm39) missense probably damaging 1.00
IGL01020:Lamc3 APN 2 31,804,668 (GRCm39) missense probably benign 0.07
IGL01086:Lamc3 APN 2 31,788,488 (GRCm39) missense probably damaging 1.00
IGL01618:Lamc3 APN 2 31,802,119 (GRCm39) missense probably damaging 0.99
IGL01655:Lamc3 APN 2 31,788,290 (GRCm39) missense probably damaging 1.00
IGL02093:Lamc3 APN 2 31,777,667 (GRCm39) missense probably damaging 1.00
IGL02309:Lamc3 APN 2 31,804,616 (GRCm39) splice site probably benign
IGL02340:Lamc3 APN 2 31,808,469 (GRCm39) missense probably damaging 1.00
IGL02410:Lamc3 APN 2 31,795,977 (GRCm39) missense probably damaging 0.99
IGL02548:Lamc3 APN 2 31,810,674 (GRCm39) missense probably benign 0.00
IGL02679:Lamc3 APN 2 31,835,410 (GRCm39) missense probably benign 0.01
IGL02751:Lamc3 APN 2 31,810,716 (GRCm39) missense probably benign 0.07
IGL02820:Lamc3 APN 2 31,813,034 (GRCm39) missense probably damaging 1.00
IGL02926:Lamc3 APN 2 31,825,738 (GRCm39) splice site probably benign
IGL02926:Lamc3 APN 2 31,825,737 (GRCm39) splice site probably benign
IGL03090:Lamc3 APN 2 31,798,710 (GRCm39) splice site probably benign
IGL03258:Lamc3 APN 2 31,777,695 (GRCm39) missense probably damaging 1.00
R0005:Lamc3 UTSW 2 31,812,440 (GRCm39) missense probably benign 0.07
R0137:Lamc3 UTSW 2 31,798,628 (GRCm39) missense probably damaging 1.00
R0179:Lamc3 UTSW 2 31,805,096 (GRCm39) splice site probably benign
R0244:Lamc3 UTSW 2 31,830,733 (GRCm39) missense probably damaging 1.00
R0512:Lamc3 UTSW 2 31,827,980 (GRCm39) missense probably damaging 1.00
R1052:Lamc3 UTSW 2 31,818,814 (GRCm39) missense probably benign 0.03
R1142:Lamc3 UTSW 2 31,830,733 (GRCm39) missense probably damaging 1.00
R1366:Lamc3 UTSW 2 31,818,859 (GRCm39) missense probably damaging 1.00
R1463:Lamc3 UTSW 2 31,777,423 (GRCm39) missense probably benign
R1515:Lamc3 UTSW 2 31,830,763 (GRCm39) missense probably damaging 1.00
R1642:Lamc3 UTSW 2 31,806,008 (GRCm39) missense probably damaging 1.00
R1692:Lamc3 UTSW 2 31,811,793 (GRCm39) missense probably null 0.01
R1707:Lamc3 UTSW 2 31,802,141 (GRCm39) critical splice donor site probably null
R1714:Lamc3 UTSW 2 31,830,769 (GRCm39) missense probably benign 0.02
R1838:Lamc3 UTSW 2 31,815,594 (GRCm39) missense possibly damaging 0.89
R2940:Lamc3 UTSW 2 31,830,714 (GRCm39) missense probably benign 0.02
R3177:Lamc3 UTSW 2 31,798,637 (GRCm39) missense probably damaging 1.00
R3277:Lamc3 UTSW 2 31,798,637 (GRCm39) missense probably damaging 1.00
R3846:Lamc3 UTSW 2 31,814,604 (GRCm39) missense probably benign 0.01
R4065:Lamc3 UTSW 2 31,835,270 (GRCm39) missense probably benign 0.00
R4089:Lamc3 UTSW 2 31,810,520 (GRCm39) nonsense probably null
R4373:Lamc3 UTSW 2 31,788,244 (GRCm39) missense probably damaging 1.00
R4394:Lamc3 UTSW 2 31,821,964 (GRCm39) missense probably benign
R4395:Lamc3 UTSW 2 31,821,964 (GRCm39) missense probably benign
R4397:Lamc3 UTSW 2 31,821,964 (GRCm39) missense probably benign
R4746:Lamc3 UTSW 2 31,795,626 (GRCm39) missense possibly damaging 0.77
R4948:Lamc3 UTSW 2 31,830,748 (GRCm39) missense probably benign 0.02
R4960:Lamc3 UTSW 2 31,805,966 (GRCm39) missense probably benign 0.00
R5025:Lamc3 UTSW 2 31,798,681 (GRCm39) missense probably benign 0.13
R5170:Lamc3 UTSW 2 31,777,356 (GRCm39) start codon destroyed probably benign 0.03
R5286:Lamc3 UTSW 2 31,808,608 (GRCm39) missense probably damaging 1.00
R5457:Lamc3 UTSW 2 31,821,997 (GRCm39) missense probably benign
R5655:Lamc3 UTSW 2 31,815,729 (GRCm39) missense probably benign 0.01
R5928:Lamc3 UTSW 2 31,811,721 (GRCm39) missense probably benign 0.00
R6018:Lamc3 UTSW 2 31,795,724 (GRCm39) missense probably damaging 1.00
R6479:Lamc3 UTSW 2 31,777,413 (GRCm39) missense probably benign
R6601:Lamc3 UTSW 2 31,810,544 (GRCm39) missense possibly damaging 0.94
R6920:Lamc3 UTSW 2 31,798,701 (GRCm39) missense probably damaging 1.00
R6924:Lamc3 UTSW 2 31,828,081 (GRCm39) missense probably benign
R7114:Lamc3 UTSW 2 31,820,657 (GRCm39) missense probably damaging 0.99
R7305:Lamc3 UTSW 2 31,820,714 (GRCm39) missense probably benign 0.39
R7559:Lamc3 UTSW 2 31,812,380 (GRCm39) missense probably benign 0.00
R7714:Lamc3 UTSW 2 31,812,279 (GRCm39) splice site probably null
R7787:Lamc3 UTSW 2 31,790,551 (GRCm39) missense probably damaging 0.99
R7819:Lamc3 UTSW 2 31,811,775 (GRCm39) missense probably benign
R8171:Lamc3 UTSW 2 31,804,983 (GRCm39) missense probably benign 0.06
R8208:Lamc3 UTSW 2 31,777,426 (GRCm39) missense possibly damaging 0.47
R8412:Lamc3 UTSW 2 31,802,128 (GRCm39) missense probably damaging 0.98
R9058:Lamc3 UTSW 2 31,798,653 (GRCm39) missense probably benign 0.01
R9242:Lamc3 UTSW 2 31,788,323 (GRCm39) missense probably benign 0.14
R9269:Lamc3 UTSW 2 31,818,908 (GRCm39) nonsense probably null
R9269:Lamc3 UTSW 2 31,813,017 (GRCm39) missense probably benign 0.11
X0010:Lamc3 UTSW 2 31,828,024 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACAGGATGAACCAAGCAC -3'
(R):5'- TGTCACACTGGAGACTCAGAG -3'

Sequencing Primer
(F):5'- AAGCACACCCATCTTGGAG -3'
(R):5'- CACTGGAGACTCAGAGAGCCTG -3'
Posted On 2016-06-06