Incidental Mutation 'R6018:Lamc3'
ID 478693
Institutional Source Beutler Lab
Gene Symbol Lamc3
Ensembl Gene ENSMUSG00000026840
Gene Name laminin gamma 3
Synonyms
MMRRC Submission 044192-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6018 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 31777303-31836551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31795724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 370 (G370W)
Ref Sequence ENSEMBL: ENSMUSP00000118745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028187] [ENSMUST00000138325]
AlphaFold Q9R0B6
Predicted Effect probably damaging
Transcript: ENSMUST00000028187
AA Change: G370W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028187
Gene: ENSMUSG00000026840
AA Change: G370W

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 damaging
Transcript: ENSMUST00000138325
AA Change: G370W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118745
Gene: ENSMUSG00000026840
AA Change: G370W

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.6%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,448 (GRCm39) Y155N probably damaging Het
1700019A02Rik C T 1: 53,202,405 (GRCm39) probably null Het
2310022B05Rik A G 8: 125,365,853 (GRCm39) F297L probably benign Het
Acbd3 T C 1: 180,579,903 (GRCm39) S516P possibly damaging Het
Agbl3 A G 6: 34,776,190 (GRCm39) N227S probably damaging Het
Ak6 C T 13: 100,802,459 (GRCm39) Q151* probably null Het
Ano4 A G 10: 88,865,128 (GRCm39) L297P probably benign Het
Anxa5 T C 3: 36,504,807 (GRCm39) T252A probably benign Het
Ap5s1 G A 2: 131,054,915 (GRCm39) W212* probably null Het
Arl9 A G 5: 77,155,253 (GRCm39) Q113R probably damaging Het
Atg2b T C 12: 105,627,430 (GRCm39) H519R probably damaging Het
Atp1a2 A G 1: 172,125,579 (GRCm39) probably benign Het
Atp2b1 G A 10: 98,846,622 (GRCm39) A808T probably damaging Het
Bckdhb C A 9: 83,951,237 (GRCm39) T342K probably benign Het
Bdp1 T C 13: 100,174,732 (GRCm39) H1996R probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Ccdc180 A G 4: 45,926,235 (GRCm39) I1148M probably damaging Het
Csf3r T A 4: 125,937,414 (GRCm39) M766K probably benign Het
Ctnnd1 T A 2: 84,480,812 (GRCm39) probably benign Het
Cyp2c39 A T 19: 39,499,436 (GRCm39) N41I probably damaging Het
D2hgdh G T 1: 93,754,182 (GRCm39) V52L probably benign Het
Dppa4 T A 16: 48,109,490 (GRCm39) Y77* probably null Het
Eif4enif1 T C 11: 3,192,481 (GRCm39) S770P probably damaging Het
Fbxl16 A T 17: 26,036,709 (GRCm39) D230V probably damaging Het
Gm4847 G A 1: 166,471,017 (GRCm39) A11V probably damaging Het
Gm9978 C T 10: 78,322,915 (GRCm39) noncoding transcript Het
Gpatch8 A G 11: 102,371,741 (GRCm39) L599P unknown Het
Hdac4 A G 1: 91,886,120 (GRCm39) L254P probably damaging Het
Heatr1 A G 13: 12,419,828 (GRCm39) I384V probably benign Het
Heatr1 A T 13: 12,420,939 (GRCm39) Q410L probably benign Het
Hmcn2 A G 2: 31,260,804 (GRCm39) I1065V probably benign Het
Igkv6-14 A G 6: 70,412,024 (GRCm39) S87P probably damaging Het
Il2rb G T 15: 78,366,266 (GRCm39) Q344K possibly damaging Het
Ipo4 A G 14: 55,863,609 (GRCm39) probably null Het
Ipo9 A G 1: 135,318,274 (GRCm39) probably null Het
Khdrbs1 T C 4: 129,613,887 (GRCm39) T374A probably benign Het
Lipn T A 19: 34,054,335 (GRCm39) L191Q probably damaging Het
Lpl T C 8: 69,353,940 (GRCm39) V427A probably benign Het
Magi3 T C 3: 104,013,128 (GRCm39) S120G probably damaging Het
Mgl2 T C 11: 70,027,937 (GRCm39) *382Q probably null Het
Nab2 G A 10: 127,500,793 (GRCm39) Q100* probably null Het
Nfat5 T A 8: 108,082,283 (GRCm39) probably null Het
Nqo1 T C 8: 108,115,500 (GRCm39) H259R probably damaging Het
Nrdc T A 4: 108,870,944 (GRCm39) D190E probably benign Het
Or5m5 T A 2: 85,815,148 (GRCm39) probably benign Het
Osmr G A 15: 6,845,276 (GRCm39) P830L probably damaging Het
Parp14 G A 16: 35,661,827 (GRCm39) P1403S probably benign Het
Pde11a T A 2: 75,848,194 (GRCm39) M878L probably benign Het
Pik3ap1 T C 19: 41,373,455 (GRCm39) probably benign Het
Pla2g3 T C 11: 3,441,916 (GRCm39) L360P probably damaging Het
Plxnc1 A G 10: 94,779,710 (GRCm39) V244A probably benign Het
Pramel16 C T 4: 143,677,469 (GRCm39) A37T possibly damaging Het
Ptpra T C 2: 130,345,422 (GRCm39) V8A probably benign Het
Rbbp5 T C 1: 132,422,078 (GRCm39) V199A probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rp1 A G 1: 4,423,059 (GRCm39) V7A possibly damaging Het
Sdk2 T C 11: 113,720,889 (GRCm39) T1347A probably benign Het
Sgo2a T A 1: 58,056,118 (GRCm39) H767Q probably benign Het
Sis G A 3: 72,820,525 (GRCm39) P1413L possibly damaging Het
Slc22a5 G T 11: 53,766,846 (GRCm39) A214E probably damaging Het
Snx13 G T 12: 35,097,318 (GRCm39) probably benign Het
Sun5 T A 2: 153,700,363 (GRCm39) I295F probably damaging Het
Themis3 C T 17: 66,900,204 (GRCm39) A55T probably damaging Het
Tmem255b T C 8: 13,505,138 (GRCm39) Y148H probably benign Het
Tmem74b A G 2: 151,548,639 (GRCm39) E122G probably damaging Het
Top3b T C 16: 16,710,756 (GRCm39) V862A probably damaging Het
Trim35 A T 14: 66,546,199 (GRCm39) D322V probably damaging Het
Trpm2 A G 10: 77,753,547 (GRCm39) F1319S probably benign Het
Ttn T A 2: 76,785,020 (GRCm39) R756S probably benign Het
Vmn2r108 A T 17: 20,683,268 (GRCm39) N645K possibly damaging Het
Vmn2r73 A G 7: 85,521,875 (GRCm39) S155P possibly damaging Het
Vstm4 G A 14: 32,585,627 (GRCm39) A65T 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
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
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'- CCTGCTTCAGAGAGCATAGTC -3'
(R):5'- TTGTCACACTGGAGACTCAGAG -3'

Sequencing Primer
(F):5'- GCTTCAGAGAGCATAGTCTCTCAG -3'
(R):5'- CACTGGAGACTCAGAGAGCCTG -3'
Posted On 2017-06-26