Incidental Mutation 'R1449:Lamc1'
ID 159094
Institutional Source Beutler Lab
Gene Symbol Lamc1
Ensembl Gene ENSMUSG00000026478
Gene Name laminin, gamma 1
Synonyms laminin B2, Lamb2
MMRRC Submission 039504-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1449 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 153094668-153208532 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 153126241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 484 (S484P)
Ref Sequence ENSEMBL: ENSMUSP00000027752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027752]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027752
AA Change: S484P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478
AA Change: S484P

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
LamNT 42 282 1.97e-150 SMART
EGF_Lam 284 337 7.18e-7 SMART
EGF_Lam 340 393 7.93e-9 SMART
EGF_Lam 396 440 2.11e-13 SMART
EGF_Lam 443 490 2.87e-15 SMART
LamB 551 676 5.52e-48 SMART
Pfam:Laminin_EGF 683 718 1.3e-4 PFAM
EGF_Lam 722 768 2.38e-12 SMART
EGF_Lam 771 823 1.39e-4 SMART
EGF_Lam 826 879 8.05e-10 SMART
EGF_Lam 882 930 8.9e-12 SMART
EGF_Lam 933 978 1.26e-11 SMART
EGF_Lam 981 1026 7.4e-9 SMART
coiled coil region 1063 1594 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159251
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.4%
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, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have 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 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]
PHENOTYPE: Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A G 4: 137,182,666 (GRCm39) N274D possibly damaging Het
6430571L13Rik T A 9: 107,219,689 (GRCm39) N47K probably damaging Het
Aasdh C T 5: 77,034,136 (GRCm39) A472T probably benign Het
Abca13 A G 11: 9,248,580 (GRCm39) T2776A probably damaging Het
Adamts10 T A 17: 33,764,613 (GRCm39) V711D probably damaging Het
Adrb3 G A 8: 27,717,415 (GRCm39) R345C probably damaging Het
Ak7 T C 12: 105,708,520 (GRCm39) V325A possibly damaging Het
Armc6 G A 8: 70,677,943 (GRCm39) L129F probably benign Het
Bend6 T C 1: 33,917,424 (GRCm39) N10S probably benign Het
Bmpr1b T C 3: 141,577,134 (GRCm39) E59G possibly damaging Het
Brd3 A G 2: 27,340,263 (GRCm39) probably null Het
Brd3 A G 2: 27,347,028 (GRCm39) Y369H probably damaging Het
Cacna1e C T 1: 154,361,408 (GRCm39) probably null Het
Camk4 A G 18: 33,072,528 (GRCm39) D27G probably damaging Het
Camkk1 T G 11: 72,924,710 (GRCm39) S308A probably damaging Het
Catsperb A G 12: 101,554,456 (GRCm39) T717A probably benign Het
Cdh23 A T 10: 60,212,730 (GRCm39) S1563R probably damaging Het
Cep44 A T 8: 56,993,985 (GRCm39) S197R probably benign Het
Col3a1 T A 1: 45,360,771 (GRCm39) I67N unknown Het
Dcaf12l1 T C X: 43,878,304 (GRCm39) T165A probably benign Het
Dicer1 T C 12: 104,695,502 (GRCm39) Y143C possibly damaging Het
Dlg5 A G 14: 24,185,711 (GRCm39) I1898T possibly damaging Het
Dnah1 T C 14: 30,985,908 (GRCm39) N3762D probably damaging Het
Dscaml1 A T 9: 45,653,521 (GRCm39) T1382S possibly damaging Het
Entpd3 A T 9: 120,395,555 (GRCm39) R513W probably damaging Het
Foxred1 A G 9: 35,120,738 (GRCm39) S132P probably damaging Het
Ftsj3 T C 11: 106,143,826 (GRCm39) I273V probably benign Het
Hsd17b7 C T 1: 169,787,251 (GRCm39) probably null Het
Iars1 T A 13: 49,887,186 (GRCm39) V1253D probably damaging Het
Iqsec1 T A 6: 90,667,790 (GRCm39) K216* probably null Het
Itga7 A G 10: 128,789,370 (GRCm39) D971G probably benign Het
Kcnk2 G A 1: 189,072,223 (GRCm39) S35L probably benign Het
Kif13a T C 13: 46,966,212 (GRCm39) Y402C probably damaging Het
Lap3 T C 5: 45,666,861 (GRCm39) probably null Het
Lhx8 G T 3: 154,033,742 (GRCm39) S46* probably null Het
Lin7a T C 10: 107,159,813 (GRCm39) S42P probably damaging Het
Lrba G A 3: 86,261,585 (GRCm39) R1513Q probably damaging Het
Maml2 C A 9: 13,531,980 (GRCm39) P398Q possibly damaging Het
Mast2 T C 4: 116,166,210 (GRCm39) I1201V probably damaging Het
Mmp20 A T 9: 7,642,769 (GRCm39) D201V probably damaging Het
Morn5 T A 2: 35,947,092 (GRCm39) C123* probably null Het
Mrpl4 A G 9: 20,918,807 (GRCm39) K175E possibly damaging Het
Nav3 A T 10: 109,689,372 (GRCm39) S302T probably benign Het
Ndrg2 T C 14: 52,145,591 (GRCm39) Y217C probably damaging Het
Nfx1 A G 4: 40,976,803 (GRCm39) D159G probably damaging Het
Nlrp9b A T 7: 19,757,089 (GRCm39) T109S possibly damaging Het
Npepps A G 11: 97,097,980 (GRCm39) Y909H probably benign Het
Or10g1 A G 14: 52,648,024 (GRCm39) C102R probably damaging Het
Or11g7 A G 14: 50,691,378 (GRCm39) N290D probably damaging Het
Or51a25 A T 7: 102,373,397 (GRCm39) F100Y probably damaging Het
Or6c211 T A 10: 129,506,238 (GRCm39) D50V probably damaging Het
Or6c69b A C 10: 129,626,723 (GRCm39) V245G probably damaging Het
Pcdh1 T C 18: 38,322,929 (GRCm39) H968R probably damaging Het
Pde1b T A 15: 103,433,470 (GRCm39) I296N probably damaging Het
Phldb1 T A 9: 44,627,930 (GRCm39) T172S probably benign Het
Plxdc2 T C 2: 16,665,592 (GRCm39) V215A possibly damaging Het
Poln A G 5: 34,171,682 (GRCm39) I695T probably damaging Het
Pou6f2 G T 13: 18,347,000 (GRCm39) Q31K probably damaging Het
Psd T A 19: 46,313,250 (GRCm39) Y40F probably damaging Het
Rnf126 T C 10: 79,597,448 (GRCm39) N155D probably benign Het
Rpl36-ps3 C A 12: 12,962,032 (GRCm39) noncoding transcript Het
Rrp15 C A 1: 186,468,465 (GRCm39) V184F possibly damaging Het
Rslcan18 G T 13: 67,250,164 (GRCm39) L24M possibly damaging Het
Sall1 A G 8: 89,759,111 (GRCm39) I331T probably benign Het
Slamf7 A T 1: 171,468,606 (GRCm39) N95K possibly damaging Het
Slc1a6 T C 10: 78,635,951 (GRCm39) Y339H probably damaging Het
Slc39a8 A G 3: 135,532,446 (GRCm39) N72D probably benign Het
Slf1 A G 13: 77,231,568 (GRCm39) S604P probably damaging Het
Slfn4 C T 11: 83,079,819 (GRCm39) T110M probably benign Het
Tnpo1 T C 13: 99,015,220 (GRCm39) T116A probably damaging Het
Tor1b T C 2: 30,845,893 (GRCm39) I190T probably damaging Het
Ttn C A 2: 76,800,138 (GRCm39) E357* probably null Het
Tubg2 G T 11: 101,047,699 (GRCm39) E95* probably null Het
Ubap2 A G 4: 41,209,351 (GRCm39) probably null Het
Ube2i T C 17: 25,487,538 (GRCm39) D67G possibly damaging Het
Ubxn11 A G 4: 133,852,203 (GRCm39) E50G probably damaging Het
Wnk1 A G 6: 119,929,779 (GRCm39) V1246A probably damaging Het
Zcchc7 A G 4: 44,929,124 (GRCm39) T38A possibly damaging Het
Zfp236 A G 18: 82,664,130 (GRCm39) S552P probably damaging Het
Other mutations in Lamc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Lamc1 APN 1 153,116,241 (GRCm39) missense probably damaging 1.00
IGL01397:Lamc1 APN 1 153,126,880 (GRCm39) missense probably damaging 1.00
IGL01661:Lamc1 APN 1 153,097,319 (GRCm39) missense possibly damaging 0.89
IGL01894:Lamc1 APN 1 153,122,828 (GRCm39) missense possibly damaging 0.51
IGL02000:Lamc1 APN 1 153,116,179 (GRCm39) missense probably damaging 1.00
IGL02649:Lamc1 APN 1 153,122,788 (GRCm39) missense possibly damaging 0.78
IGL02749:Lamc1 APN 1 153,125,599 (GRCm39) missense possibly damaging 0.51
IGL02819:Lamc1 APN 1 153,126,407 (GRCm39) missense probably damaging 1.00
IGL02831:Lamc1 APN 1 153,122,801 (GRCm39) missense probably benign 0.00
IGL03069:Lamc1 APN 1 153,115,127 (GRCm39) missense probably damaging 1.00
IGL03143:Lamc1 APN 1 153,208,020 (GRCm39) missense probably benign 0.00
IGL03166:Lamc1 APN 1 153,208,047 (GRCm39) missense probably benign 0.01
IGL03285:Lamc1 APN 1 153,103,431 (GRCm39) missense possibly damaging 0.96
IGL03294:Lamc1 APN 1 153,138,392 (GRCm39) missense probably damaging 1.00
pride UTSW 1 153,123,030 (GRCm39) missense probably benign 0.01
Stratum UTSW 1 153,126,870 (GRCm39) nonsense probably null
tier UTSW 1 153,126,268 (GRCm39) missense probably damaging 1.00
PIT4280001:Lamc1 UTSW 1 153,119,217 (GRCm39) missense probably damaging 1.00
R0003:Lamc1 UTSW 1 153,138,185 (GRCm39) missense probably damaging 0.99
R0003:Lamc1 UTSW 1 153,138,185 (GRCm39) missense probably damaging 0.99
R0027:Lamc1 UTSW 1 153,138,329 (GRCm39) missense probably damaging 1.00
R0060:Lamc1 UTSW 1 153,117,614 (GRCm39) unclassified probably benign
R0078:Lamc1 UTSW 1 153,104,936 (GRCm39) missense probably damaging 0.96
R0157:Lamc1 UTSW 1 153,138,353 (GRCm39) missense probably benign 0.00
R0282:Lamc1 UTSW 1 153,131,058 (GRCm39) missense probably benign
R0374:Lamc1 UTSW 1 153,126,811 (GRCm39) splice site probably benign
R0494:Lamc1 UTSW 1 153,122,682 (GRCm39) critical splice donor site probably null
R0502:Lamc1 UTSW 1 153,122,678 (GRCm39) splice site probably benign
R0755:Lamc1 UTSW 1 153,123,196 (GRCm39) missense possibly damaging 0.94
R0791:Lamc1 UTSW 1 153,110,341 (GRCm39) missense probably damaging 1.00
R0791:Lamc1 UTSW 1 153,110,326 (GRCm39) missense possibly damaging 0.94
R0791:Lamc1 UTSW 1 153,110,358 (GRCm39) missense probably benign 0.01
R0792:Lamc1 UTSW 1 153,110,326 (GRCm39) missense possibly damaging 0.94
R0792:Lamc1 UTSW 1 153,110,341 (GRCm39) missense probably damaging 1.00
R0792:Lamc1 UTSW 1 153,110,358 (GRCm39) missense probably benign 0.01
R0892:Lamc1 UTSW 1 153,208,000 (GRCm39) missense possibly damaging 0.95
R0941:Lamc1 UTSW 1 153,208,020 (GRCm39) missense possibly damaging 0.72
R0961:Lamc1 UTSW 1 153,097,446 (GRCm39) missense probably benign 0.03
R0961:Lamc1 UTSW 1 153,097,392 (GRCm39) frame shift probably null
R0963:Lamc1 UTSW 1 153,119,132 (GRCm39) missense probably benign
R1127:Lamc1 UTSW 1 153,126,205 (GRCm39) missense possibly damaging 0.69
R1173:Lamc1 UTSW 1 153,122,977 (GRCm39) splice site probably benign
R1175:Lamc1 UTSW 1 153,122,977 (GRCm39) splice site probably benign
R1481:Lamc1 UTSW 1 153,097,380 (GRCm39) missense probably damaging 1.00
R1565:Lamc1 UTSW 1 153,118,489 (GRCm39) missense probably benign 0.34
R1583:Lamc1 UTSW 1 153,119,224 (GRCm39) critical splice acceptor site probably null
R1643:Lamc1 UTSW 1 153,133,818 (GRCm39) splice site probably benign
R1652:Lamc1 UTSW 1 153,125,392 (GRCm39) missense probably damaging 1.00
R1691:Lamc1 UTSW 1 153,122,995 (GRCm39) missense probably benign 0.04
R1854:Lamc1 UTSW 1 153,125,618 (GRCm39) missense probably damaging 0.99
R2018:Lamc1 UTSW 1 153,118,378 (GRCm39) missense probably benign 0.07
R2170:Lamc1 UTSW 1 153,124,888 (GRCm39) missense probably benign 0.07
R2410:Lamc1 UTSW 1 153,123,141 (GRCm39) missense possibly damaging 0.61
R3438:Lamc1 UTSW 1 153,102,161 (GRCm39) missense probably benign 0.04
R3615:Lamc1 UTSW 1 153,126,896 (GRCm39) missense probably damaging 1.00
R3616:Lamc1 UTSW 1 153,126,896 (GRCm39) missense probably damaging 1.00
R3699:Lamc1 UTSW 1 153,130,951 (GRCm39) missense possibly damaging 0.79
R3811:Lamc1 UTSW 1 153,138,454 (GRCm39) splice site probably null
R4285:Lamc1 UTSW 1 153,110,298 (GRCm39) missense probably damaging 0.99
R4431:Lamc1 UTSW 1 153,097,274 (GRCm39) missense probably damaging 1.00
R4579:Lamc1 UTSW 1 153,123,015 (GRCm39) missense probably damaging 1.00
R4625:Lamc1 UTSW 1 153,118,442 (GRCm39) missense probably benign 0.04
R4649:Lamc1 UTSW 1 153,104,523 (GRCm39) missense probably damaging 0.99
R4650:Lamc1 UTSW 1 153,104,523 (GRCm39) missense probably damaging 0.99
R4651:Lamc1 UTSW 1 153,104,523 (GRCm39) missense probably damaging 0.99
R4652:Lamc1 UTSW 1 153,104,523 (GRCm39) missense probably damaging 0.99
R4653:Lamc1 UTSW 1 153,104,523 (GRCm39) missense probably damaging 0.99
R4784:Lamc1 UTSW 1 153,107,486 (GRCm39) missense probably damaging 1.00
R4785:Lamc1 UTSW 1 153,107,486 (GRCm39) missense probably damaging 1.00
R4853:Lamc1 UTSW 1 153,104,846 (GRCm39) missense possibly damaging 0.89
R5216:Lamc1 UTSW 1 153,103,442 (GRCm39) missense probably damaging 1.00
R5217:Lamc1 UTSW 1 153,103,442 (GRCm39) missense probably damaging 1.00
R5218:Lamc1 UTSW 1 153,103,442 (GRCm39) missense probably damaging 1.00
R5219:Lamc1 UTSW 1 153,103,442 (GRCm39) missense probably damaging 1.00
R5468:Lamc1 UTSW 1 153,109,310 (GRCm39) missense probably damaging 0.99
R5597:Lamc1 UTSW 1 153,127,716 (GRCm39) missense probably damaging 1.00
R5754:Lamc1 UTSW 1 153,123,030 (GRCm39) missense probably benign 0.01
R6233:Lamc1 UTSW 1 153,099,412 (GRCm39) missense probably benign
R6431:Lamc1 UTSW 1 153,097,417 (GRCm39) missense probably benign 0.21
R6636:Lamc1 UTSW 1 153,117,721 (GRCm39) missense possibly damaging 0.93
R6888:Lamc1 UTSW 1 153,138,238 (GRCm39) missense probably damaging 1.00
R7161:Lamc1 UTSW 1 153,102,200 (GRCm39) missense probably damaging 1.00
R7240:Lamc1 UTSW 1 153,110,396 (GRCm39) missense possibly damaging 0.82
R7388:Lamc1 UTSW 1 153,124,822 (GRCm39) missense probably damaging 1.00
R7474:Lamc1 UTSW 1 153,208,011 (GRCm39) missense possibly damaging 0.81
R7570:Lamc1 UTSW 1 153,119,021 (GRCm39) missense possibly damaging 0.64
R7583:Lamc1 UTSW 1 153,118,978 (GRCm39) missense possibly damaging 0.71
R7597:Lamc1 UTSW 1 153,116,200 (GRCm39) missense possibly damaging 0.94
R7635:Lamc1 UTSW 1 153,124,806 (GRCm39) missense probably damaging 1.00
R7976:Lamc1 UTSW 1 153,123,014 (GRCm39) missense probably damaging 1.00
R8012:Lamc1 UTSW 1 153,097,358 (GRCm39) missense probably benign 0.04
R8207:Lamc1 UTSW 1 153,126,268 (GRCm39) missense probably damaging 1.00
R8219:Lamc1 UTSW 1 153,123,073 (GRCm39) missense probably damaging 1.00
R8227:Lamc1 UTSW 1 153,099,500 (GRCm39) missense probably benign 0.04
R8315:Lamc1 UTSW 1 153,119,167 (GRCm39) missense probably benign 0.00
R8417:Lamc1 UTSW 1 153,106,515 (GRCm39) missense probably damaging 1.00
R8685:Lamc1 UTSW 1 153,109,288 (GRCm39) missense probably benign 0.31
R8827:Lamc1 UTSW 1 153,097,424 (GRCm39) missense probably damaging 1.00
R8995:Lamc1 UTSW 1 153,207,993 (GRCm39) missense probably benign 0.00
R9061:Lamc1 UTSW 1 153,126,870 (GRCm39) nonsense probably null
R9141:Lamc1 UTSW 1 153,123,196 (GRCm39) missense probably benign 0.01
R9187:Lamc1 UTSW 1 153,097,434 (GRCm39) nonsense probably null
R9206:Lamc1 UTSW 1 153,126,197 (GRCm39) missense probably damaging 1.00
R9222:Lamc1 UTSW 1 153,119,087 (GRCm39) missense probably damaging 0.96
R9297:Lamc1 UTSW 1 153,127,746 (GRCm39) missense probably damaging 1.00
R9318:Lamc1 UTSW 1 153,127,746 (GRCm39) missense probably damaging 1.00
R9377:Lamc1 UTSW 1 153,115,009 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTCCTCATTAAAGGGCCACACAAG -3'
(R):5'- TGCCGTCGTGTAAAACGGGTTG -3'

Sequencing Primer
(F):5'- GTATCAAAAACACTCCCAAGTTACTG -3'
(R):5'- ATCCTTCGGGCAGCACAG -3'
Posted On 2014-03-14