Incidental Mutation 'R6920:Lamc3'
ID 539558
Institutional Source Beutler Lab
Gene Symbol Lamc3
Ensembl Gene ENSMUSG00000026840
Gene Name laminin gamma 3
Synonyms
MMRRC Submission 045040-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6920 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 31777303-31836551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31798701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 469 (D469G)
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: D469G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000028187
Gene: ENSMUSG00000026840
AA Change: D469G

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: D469G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118745
Gene: ENSMUSG00000026840
AA Change: D469G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,773,811 (GRCm39) Y1000F probably damaging Het
1700018B08Rik A G 8: 122,262,160 (GRCm39) probably null Het
Aadat T C 8: 60,982,467 (GRCm39) F245L probably damaging Het
Adcy10 T G 1: 165,403,227 (GRCm39) L1575W probably damaging Het
Anks4b A T 7: 119,782,231 (GRCm39) T421S probably damaging Het
Anpep A T 7: 79,475,097 (GRCm39) I155N probably damaging Het
Arnt T C 3: 95,397,932 (GRCm39) F572L probably damaging Het
Brip1 G A 11: 86,039,362 (GRCm39) Q391* probably null Het
Brpf3 C A 17: 29,042,970 (GRCm39) H1004N probably benign Het
Cand2 T A 6: 115,768,250 (GRCm39) V465D possibly damaging Het
Card10 G T 15: 78,686,609 (GRCm39) Y69* probably null Het
Catsperd A T 17: 56,962,175 (GRCm39) K450* probably null Het
Ccdc137 T C 11: 120,351,009 (GRCm39) L137P probably damaging Het
Cic T C 7: 24,990,107 (GRCm39) S1905P probably damaging Het
Csmd3 C T 15: 47,507,601 (GRCm39) G2971S probably damaging Het
Dmxl2 A G 9: 54,379,496 (GRCm39) Y183H probably damaging Het
Drosha T C 15: 12,834,396 (GRCm39) Y167H unknown Het
E330034G19Rik A G 14: 24,358,310 (GRCm39) K214R unknown Het
Fam180a T G 6: 35,290,765 (GRCm39) I73L possibly damaging Het
Fbxo28 G T 1: 182,168,986 (GRCm39) H51N probably benign Het
Gm12728 T G 4: 105,647,533 (GRCm39) probably null Het
Gm973 T C 1: 59,591,620 (GRCm39) C335R possibly damaging Het
Gpx8 A G 13: 113,179,770 (GRCm39) V177A probably damaging Het
Hdlbp A G 1: 93,340,083 (GRCm39) probably null Het
Htt T G 5: 35,034,444 (GRCm39) Y1972D probably null Het
Igkv6-14 T C 6: 70,412,116 (GRCm39) Y56C possibly damaging Het
Kcnma1 A G 14: 23,576,602 (GRCm39) probably null Het
Klc1 T C 12: 111,754,019 (GRCm39) S105P probably damaging Het
Klhl20 T C 1: 160,921,266 (GRCm39) D63G possibly damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Mboat4 G A 8: 34,591,865 (GRCm39) R434H probably benign Het
Mttp T C 3: 137,821,043 (GRCm39) K270E possibly damaging Het
Muc5ac G A 7: 141,347,035 (GRCm39) C337Y possibly damaging Het
Nars1 A G 18: 64,634,471 (GRCm39) V484A probably damaging Het
Noxa1 G T 2: 24,981,844 (GRCm39) probably null Het
Or14c45 A G 7: 86,176,522 (GRCm39) T186A probably benign Het
Or7g18 T A 9: 18,786,821 (GRCm39) L63H probably damaging Het
Osbpl7 G A 11: 96,941,584 (GRCm39) G36S probably damaging Het
P4htm C T 9: 108,460,812 (GRCm39) G220D probably benign Het
Pcdhga7 A G 18: 37,848,199 (GRCm39) I69V probably benign Het
Pla2g4e C T 2: 120,015,795 (GRCm39) E250K possibly damaging Het
Plcd4 A G 1: 74,604,994 (GRCm39) probably benign Het
Ppfia3 C A 7: 45,008,231 (GRCm39) G213V possibly damaging Het
Ppp1r1a A G 15: 103,441,513 (GRCm39) S67P probably damaging Het
Prss43 T C 9: 110,657,680 (GRCm39) F193S probably benign Het
Rfx1 A G 8: 84,822,117 (GRCm39) Y872C probably damaging Het
Rhot1 T A 11: 80,132,921 (GRCm39) N218K probably benign Het
Sall1 A G 8: 89,757,021 (GRCm39) F1028L probably damaging Het
Siglec1 G A 2: 130,919,997 (GRCm39) Q845* probably null Het
Slc38a9 C T 13: 112,838,060 (GRCm39) T275I possibly damaging Het
Slc39a4 A T 15: 76,497,470 (GRCm39) S481T probably damaging Het
Ssr1 A T 13: 38,169,998 (GRCm39) N191K probably damaging Het
Tenm4 A T 7: 96,544,757 (GRCm39) S2258C probably damaging Het
Tm7sf3 T G 6: 146,507,645 (GRCm39) R472S possibly damaging Het
Tmprss11a G A 5: 86,576,494 (GRCm39) T119M probably benign Het
Traip C T 9: 107,838,240 (GRCm39) R142* probably null Het
Utrn T C 10: 12,626,214 (GRCm39) N100D probably damaging Het
Vmn1r74 T C 7: 11,581,575 (GRCm39) S292P probably benign Het
Vmn2r71 A T 7: 85,273,108 (GRCm39) I641F probably damaging Het
Vmn2r9 T A 5: 108,996,912 (GRCm39) Y119F possibly damaging Het
Vmn2r98 A G 17: 19,285,510 (GRCm39) N110S probably damaging Het
Vwce A G 19: 10,642,057 (GRCm39) T928A probably benign Het
Zfp608 T A 18: 55,121,337 (GRCm39) K83N probably damaging Het
Zfp808 A G 13: 62,320,982 (GRCm39) H737R probably benign Het
Zswim4 T C 8: 84,940,714 (GRCm39) N795S 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
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
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'- GTCCCTGTTCTTCTGAGGATG -3'
(R):5'- GTTCCCACAGGGCCTTTGG -3'

Sequencing Primer
(F):5'- CCTGTTCTTCTGAGGATGGGGAATC -3'
(R):5'- CCCAAGGACAACTCTTAATTTGGGG -3'
Posted On 2018-11-06