Incidental Mutation 'R5457:Lamc3'
ID 432791
Institutional Source Beutler Lab
Gene Symbol Lamc3
Ensembl Gene ENSMUSG00000026840
Gene Name laminin gamma 3
Synonyms
MMRRC Submission 043020-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5457 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 31777303-31836551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31821997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1315 (E1315G)
Ref Sequence ENSEMBL: ENSMUSP00000118745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028187] [ENSMUST00000138325]
AlphaFold Q9R0B6
Predicted Effect probably benign
Transcript: ENSMUST00000028187
AA Change: E1304G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028187
Gene: ENSMUSG00000026840
AA Change: E1304G

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 probably benign
Transcript: ENSMUST00000138325
AA Change: E1315G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118745
Gene: ENSMUSG00000026840
AA Change: E1315G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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 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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C A 8: 87,236,473 (GRCm39) V1114L probably benign Het
Actr5 G A 2: 158,477,918 (GRCm39) probably null Het
Adcy7 T C 8: 89,037,649 (GRCm39) L239P probably damaging Het
Afg3l1 T A 8: 124,216,707 (GRCm39) F315L possibly damaging Het
Agps A G 2: 75,684,596 (GRCm39) Y188C probably benign Het
Akt1 T C 12: 112,623,525 (GRCm39) T312A probably damaging Het
Ang2 T C 14: 51,433,292 (GRCm39) Y30C probably damaging Het
Angpt1 G A 15: 42,386,916 (GRCm39) T146I probably damaging Het
Atg16l1 T C 1: 87,702,813 (GRCm39) S288P probably damaging Het
Atp1b2 C T 11: 69,493,558 (GRCm39) G4R probably damaging Het
Best3 T C 10: 116,840,416 (GRCm39) F282S probably damaging Het
Cdkn2b A G 4: 89,225,391 (GRCm39) L98P probably damaging Het
Cenps A G 4: 149,216,094 (GRCm39) probably null Het
Clec16a G T 16: 10,363,396 (GRCm39) probably null Het
Cxcl13 A T 5: 96,104,830 (GRCm39) M1L unknown Het
Dcun1d4 A T 5: 73,688,908 (GRCm39) E149D probably damaging Het
Dlst G A 12: 85,168,914 (GRCm39) probably null Het
Dock10 C A 1: 80,501,781 (GRCm39) C1803F probably damaging Het
Dpp10 T A 1: 123,339,539 (GRCm39) K329N possibly damaging Het
Drosha T G 15: 12,926,115 (GRCm39) Y1235D probably benign Het
Eif2s3y G A Y: 1,016,057 (GRCm39) G213D probably damaging Homo
Eps8 A T 6: 137,489,175 (GRCm39) S408T probably damaging Het
Fam171a2 T C 11: 102,328,362 (GRCm39) D799G possibly damaging Het
Fcho2 T C 13: 98,926,275 (GRCm39) K103E probably damaging Het
Fcrlb T C 1: 170,739,726 (GRCm39) T59A probably damaging Het
Fgd4 T C 16: 16,279,873 (GRCm39) R395G probably benign Het
Gm14496 A T 2: 181,639,401 (GRCm39) D497V probably damaging Het
Gpt2 A C 8: 86,238,967 (GRCm39) N267H possibly damaging Het
Grb14 A T 2: 64,747,442 (GRCm39) C43S probably damaging Het
Hjurp T TN 1: 88,194,247 (GRCm39) probably null Het
Igkv8-16 A G 6: 70,363,689 (GRCm39) V111A possibly damaging Het
Klra2 T A 6: 131,198,852 (GRCm39) S230C possibly damaging Het
Lamb3 G A 1: 193,008,302 (GRCm39) R245H probably damaging Het
Lpin2 A G 17: 71,550,367 (GRCm39) T672A probably damaging Het
Mcoln3 T A 3: 145,833,877 (GRCm39) I139N probably benign Het
Mcpt8 C T 14: 56,319,793 (GRCm39) C219Y probably benign Het
Mtcl3 A C 10: 29,072,720 (GRCm39) I671L probably benign Het
Mug2 G T 6: 122,026,688 (GRCm39) G541* probably null Het
Myo7b G T 18: 32,104,503 (GRCm39) probably null Het
Or10j2 C T 1: 173,098,141 (GRCm39) S133L probably benign Het
Or10j7 A G 1: 173,011,180 (GRCm39) S274P probably damaging Het
Or5ac22 T C 16: 59,135,213 (GRCm39) I186V probably benign Het
Or5k8 A T 16: 58,644,796 (GRCm39) I92N probably damaging Het
Or7e176 A T 9: 20,171,574 (GRCm39) Y146F probably damaging Het
Pclo C T 5: 14,726,157 (GRCm39) probably benign Het
Pdk2 C T 11: 94,919,408 (GRCm39) S289N probably damaging Het
Pex19 G T 1: 171,958,245 (GRCm39) G75W probably damaging Het
Psma3 T G 12: 71,031,339 (GRCm39) S26A probably benign Het
Pth1r A T 9: 110,555,522 (GRCm39) I326N possibly damaging Het
Sbf2 T C 7: 109,912,037 (GRCm39) T1670A probably benign Het
Scn10a A G 9: 119,523,193 (GRCm39) Y67H probably damaging Het
Sec16a A T 2: 26,330,280 (GRCm39) D578E probably benign Het
Spta1 C T 1: 174,044,759 (GRCm39) A1465V probably damaging Het
Taar9 A G 10: 23,985,003 (GRCm39) F144L probably damaging Het
Tal1 T C 4: 114,925,777 (GRCm39) V282A probably benign Het
Tbrg4 C T 11: 6,570,947 (GRCm39) R175Q probably damaging Het
Tdp1 C T 12: 99,861,005 (GRCm39) Q215* probably null Het
Thsd4 A T 9: 59,887,060 (GRCm39) W921R probably damaging Het
Trrap A G 5: 144,786,787 (GRCm39) E3462G probably damaging Het
Try4 T C 6: 41,280,355 (GRCm39) S60P probably damaging Het
Ttn T C 2: 76,541,265 (GRCm39) E25580G probably damaging Het
Ttn A T 2: 76,776,299 (GRCm39) I1581N possibly damaging Het
Vmn2r50 T C 7: 9,781,873 (GRCm39) T291A probably damaging Het
Zkscan14 T C 5: 145,138,169 (GRCm39) D106G probably benign 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
R5062:Lamc3 UTSW 2 31,795,679 (GRCm39) missense possibly damaging 0.60
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
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'- GGATCAAAAGTTTCAGTTCTGGGC -3'
(R):5'- AAGCTCCCAGGCATTTTGAG -3'

Sequencing Primer
(F):5'- AGCACAGTGGGGCACTTTTC -3'
(R):5'- CTCCCAGGCATTTTGAGGGAGG -3'
Posted On 2016-10-06