Incidental Mutation 'R7559:Lamc3'
ID 584922
Institutional Source Beutler Lab
Gene Symbol Lamc3
Ensembl Gene ENSMUSG00000026840
Gene Name laminin gamma 3
Synonyms
MMRRC Submission 045653-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7559 (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 31812380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 939 (K939R)
Ref Sequence ENSEMBL: ENSMUSP00000028187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028187] [ENSMUST00000138325]
AlphaFold Q9R0B6
Predicted Effect probably benign
Transcript: ENSMUST00000028187
AA Change: K939R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028187
Gene: ENSMUSG00000026840
AA Change: K939R

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: K939R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000118745
Gene: ENSMUSG00000026840
AA Change: K939R

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: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (68/69)
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
Adap1 C A 5: 139,265,295 (GRCm39) R206L probably damaging Het
Adcy3 A G 12: 4,248,440 (GRCm39) K501E probably benign Het
Agl T C 3: 116,545,764 (GRCm39) D679G Het
Ankrd10 A T 8: 11,662,548 (GRCm39) V395D probably damaging Het
Ano5 A G 7: 51,224,636 (GRCm39) I531V probably damaging Het
Apol9a T A 15: 77,288,761 (GRCm39) H202L possibly damaging Het
Atp6v1c2 A C 12: 17,351,215 (GRCm39) I105M probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Coro1b T C 19: 4,200,220 (GRCm39) probably null Het
D930020B18Rik A G 10: 121,492,131 (GRCm39) probably benign Het
Dcst2 T C 3: 89,276,021 (GRCm39) F384S possibly damaging Het
Ddx39a T A 8: 84,447,595 (GRCm39) F147I possibly damaging Het
Drosha A G 15: 12,842,508 (GRCm39) E393G probably damaging Het
Etfdh T C 3: 79,530,886 (GRCm39) Y45C probably damaging Het
Fam20c G T 5: 138,778,954 (GRCm39) E287D possibly damaging Het
Flnc T A 6: 29,459,009 (GRCm39) D2463E probably damaging Het
Flt4 A T 11: 49,535,198 (GRCm39) I1209F possibly damaging Het
Foxp1 T C 6: 98,922,521 (GRCm39) D437G unknown Het
Fras1 T C 5: 96,888,713 (GRCm39) V2753A possibly damaging Het
Ftsj3 T C 11: 106,143,813 (GRCm39) D277G possibly damaging Het
Gad1 T C 2: 70,394,256 (GRCm39) probably null Het
Gal3st2c A G 1: 93,937,075 (GRCm39) Y340C probably damaging Het
Gbp9 A G 5: 105,232,975 (GRCm39) F226L probably damaging Het
Gm11992 C T 11: 9,002,747 (GRCm39) P37S possibly damaging Het
Gm19668 G T 10: 77,634,572 (GRCm39) C132* probably null Het
Hdac3 A T 18: 38,078,569 (GRCm39) F139I possibly damaging Het
Hectd4 A G 5: 121,453,573 (GRCm39) probably null Het
Helz T A 11: 107,491,104 (GRCm39) S162T possibly damaging Het
Hspb6 C A 7: 30,253,712 (GRCm39) S75Y probably damaging Het
Il17rb T A 14: 29,719,000 (GRCm39) I361F probably damaging Het
Iqsec3 A T 6: 121,364,739 (GRCm39) V850D probably damaging Het
Knl1 A G 2: 118,924,487 (GRCm39) E1840G possibly damaging Het
Lmo7 C T 14: 102,124,662 (GRCm39) R496* probably null Het
Lsm14a A T 7: 34,052,826 (GRCm39) C374* probably null Het
Luc7l T C 17: 26,474,089 (GRCm39) L49P probably damaging Het
Mdga2 A C 12: 66,520,003 (GRCm39) C988G probably damaging Het
Mtf1 T C 4: 124,713,999 (GRCm39) V136A probably damaging Het
Myo7b T A 18: 32,116,413 (GRCm39) I1016F probably benign Het
Nadsyn1 C A 7: 143,361,804 (GRCm39) A306S probably benign Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Nr4a1 T C 15: 101,168,780 (GRCm39) V272A probably damaging Het
Opcml A T 9: 28,814,620 (GRCm39) T291S probably benign Het
Or13a24 T A 7: 140,154,356 (GRCm39) C97S probably damaging Het
Or52u1 C A 7: 104,237,087 (GRCm39) H25Q probably damaging Het
Or56b1b C T 7: 108,164,763 (GRCm39) A80T probably damaging Het
Osbp2 C G 11: 3,662,493 (GRCm39) K196N probably damaging Het
Otoa T C 7: 120,743,149 (GRCm39) V792A probably damaging Het
Pcmtd1 A G 1: 7,239,766 (GRCm39) D245G probably damaging Het
Pcnx1 T C 12: 82,039,896 (GRCm39) V1428A unknown Het
Pik3r4 A G 9: 105,555,352 (GRCm39) H1103R probably benign Het
Pjvk C T 2: 76,486,154 (GRCm39) H185Y probably benign Het
Pkd1l3 T C 8: 110,351,072 (GRCm39) V639A probably benign Het
Pklr T C 3: 89,050,365 (GRCm39) S405P probably damaging Het
Pla2g12a T A 3: 129,672,569 (GRCm39) Y68N probably damaging Het
Proz A G 8: 13,113,455 (GRCm39) H92R probably benign Het
Sec23ip G T 7: 128,379,074 (GRCm39) V844F possibly damaging Het
Sema3f A G 9: 107,561,777 (GRCm39) V520A possibly damaging Het
Serpinb12 A G 1: 106,881,453 (GRCm39) I197V probably damaging Het
Sim2 A T 16: 93,910,218 (GRCm39) I207F possibly damaging Het
Slc15a2 C T 16: 36,572,259 (GRCm39) V702I probably benign Het
Slc35f4 T C 14: 49,541,732 (GRCm39) I341V probably benign Het
Spam1 A G 6: 24,800,452 (GRCm39) Y397C probably damaging Het
Spire1 A T 18: 67,634,187 (GRCm39) M417K probably benign Het
Srcap T C 7: 127,129,722 (GRCm39) S515P unknown Het
Tfrc T A 16: 32,440,235 (GRCm39) probably null Het
Topors A G 4: 40,261,401 (GRCm39) S628P unknown Het
Trim71 T C 9: 114,342,110 (GRCm39) Y724C probably damaging Het
Ttn C T 2: 76,623,199 (GRCm39) V15413I probably damaging Het
Vmn1r21 A T 6: 57,821,227 (GRCm39) N72K probably damaging Het
Vmn2r80 A T 10: 79,030,459 (GRCm39) M762L probably benign Het
Wdr62 A G 7: 29,970,198 (GRCm39) I203T 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
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
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
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'- GCTCCTTGGAGCCTTCAATG -3'
(R):5'- TCTTGTAGGTCATCTCCAGCAAG -3'

Sequencing Primer
(F):5'- AGTTCATAGTGACTTACCAGATCTG -3'
(R):5'- GTAGGTCATCTCCAGCAAGAGACC -3'
Posted On 2019-10-17