Incidental Mutation 'R0157:Lamc1'
ID 22887
Institutional Source Beutler Lab
Gene Symbol Lamc1
Ensembl Gene ENSMUSG00000026478
Gene Name laminin, gamma 1
Synonyms laminin B2, Lamb2
MMRRC Submission 038437-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0157 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 1
Chromosomal Location 153094668-153208532 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 153138353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 167 (D167G)
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: D167G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000027752
Gene: ENSMUSG00000026478
AA Change: D167G

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
Meta Mutation Damage Score 0.0816 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.5%
Validation Efficiency 64% (47/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 T A 11: 80,056,527 (GRCm39) I180N probably damaging Het
Alk T A 17: 72,256,840 (GRCm39) N673I probably benign Het
Ankrd7 T C 6: 18,866,539 (GRCm39) S20P probably damaging Het
Arhgef26 T G 3: 62,288,392 (GRCm39) D487E probably damaging Het
Arhgef4 A G 1: 34,845,475 (GRCm39) D1500G probably damaging Het
Arhgef7 A G 8: 11,835,812 (GRCm39) I39V probably damaging Het
Asap2 T A 12: 21,256,326 (GRCm39) I208N probably damaging Het
Atad5 T C 11: 79,980,643 (GRCm39) V16A possibly damaging Het
Atp2b1 T C 10: 98,835,809 (GRCm39) I518T probably damaging Het
B130006D01Rik T C 11: 95,617,211 (GRCm39) probably benign Het
BC028528 A G 3: 95,792,280 (GRCm39) probably null Het
Bpifb6 T A 2: 153,745,886 (GRCm39) L74Q probably benign Het
Bptf T C 11: 106,965,484 (GRCm39) T1122A possibly damaging Het
Cacna2d4 T A 6: 119,289,385 (GRCm39) D806E probably benign Het
Cdhr3 T C 12: 33,111,649 (GRCm39) Q287R possibly damaging Het
Cdk12 A G 11: 98,140,602 (GRCm39) probably benign Het
Cenpf T A 1: 189,384,556 (GRCm39) T2575S probably benign Het
Chd7 T A 4: 8,833,759 (GRCm39) I1171N probably damaging Het
Chd9 T C 8: 91,735,464 (GRCm39) probably null Het
Ckmt1 A G 2: 121,193,522 (GRCm39) T361A possibly damaging Het
Clec4d G T 6: 123,244,095 (GRCm39) R68L probably benign Het
Csmd2 G T 4: 128,415,704 (GRCm39) V2678F probably benign Het
Cul7 T A 17: 46,964,761 (GRCm39) V131E possibly damaging Het
Dab2 T C 15: 6,459,308 (GRCm39) S407P probably benign Het
Dnah17 C T 11: 118,017,997 (GRCm39) G166D probably benign Het
F13b G A 1: 139,431,585 (GRCm39) V52I probably benign Het
Gjd4 T C 18: 9,280,549 (GRCm39) I176M probably benign Het
Hoxc11 A G 15: 102,863,436 (GRCm39) Y159C probably damaging Het
Hydin T C 8: 111,026,642 (GRCm39) I120T possibly damaging Het
Il20rb A G 9: 100,355,132 (GRCm39) Y104H probably damaging Het
Krtap21-1 A G 16: 89,200,430 (GRCm39) C71R unknown Het
Lin7c C A 2: 109,725,514 (GRCm39) A73E probably damaging Het
Meiosin T C 7: 18,840,945 (GRCm39) H63R possibly damaging Het
Mms22l C A 4: 24,588,224 (GRCm39) A952E probably damaging Het
Myh3 A G 11: 66,973,735 (GRCm39) N136S probably benign Het
Ndufb10 T C 17: 24,943,218 (GRCm39) T31A probably benign Het
Nlrp2 T C 7: 5,311,769 (GRCm39) Y37C possibly damaging Het
Or2t44 T C 11: 58,677,885 (GRCm39) F275S probably damaging Het
Or2y14 T C 11: 49,404,600 (GRCm39) I45T probably damaging Het
Orc3 C A 4: 34,607,130 (GRCm39) probably null Het
Pard3b A C 1: 62,250,792 (GRCm39) M512L probably damaging Het
Pcdh10 A G 3: 45,334,136 (GRCm39) D150G probably damaging Het
Pcolce A T 5: 137,608,741 (GRCm39) probably null Het
Pdcl A C 2: 37,242,189 (GRCm39) I187S probably damaging Het
Pkn1 T C 8: 84,419,449 (GRCm39) I51M probably damaging Het
Pla2g4e T A 2: 120,000,662 (GRCm39) T692S probably benign Het
Plcb2 C A 2: 118,549,022 (GRCm39) V380F probably damaging Het
Pmpcb A T 5: 21,947,950 (GRCm39) I218F probably damaging Het
Pms1 A T 1: 53,234,196 (GRCm39) Y773* probably null Het
Polr2e C T 10: 79,872,615 (GRCm39) G184R probably damaging Het
Polr3a T C 14: 24,529,254 (GRCm39) I369V probably damaging Het
Pramel21 C T 4: 143,342,366 (GRCm39) P158S probably damaging Het
Prpf4b T C 13: 35,068,014 (GRCm39) probably benign Het
Pzp G A 6: 128,500,939 (GRCm39) Q140* probably null Het
Qrich2 T A 11: 116,332,221 (GRCm39) E2325V probably damaging Het
R3hdm2 T G 10: 127,307,858 (GRCm39) L373R probably damaging Het
Sema3d A T 5: 12,558,104 (GRCm39) D212V possibly damaging Het
Sidt2 A G 9: 45,850,565 (GRCm39) I850T probably damaging Het
Slc22a29 C T 19: 8,140,106 (GRCm39) R433H possibly damaging Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Sox21 G A 14: 118,473,354 (GRCm39) probably benign Het
Steap3 A G 1: 120,155,379 (GRCm39) *527R probably null Het
Svep1 T C 4: 58,069,830 (GRCm39) E2652G possibly damaging Het
Taar2 T A 10: 23,817,389 (GRCm39) F310I probably damaging Het
Tasor2 C A 13: 3,625,550 (GRCm39) V1467L probably benign Het
Tecta A G 9: 42,286,307 (GRCm39) V783A probably benign Het
Vmn1r173 T A 7: 23,401,822 (GRCm39) I19N probably damaging Het
Vwa5b1 T A 4: 138,332,190 (GRCm39) M276L probably benign Het
Yeats2 A C 16: 20,040,427 (GRCm39) *142C probably null Het
Zfp26 G T 9: 20,349,166 (GRCm39) T466K probably benign Het
Zfp426 T C 9: 20,382,432 (GRCm39) N171S probably benign 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
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 1 153,110,358 (GRCm39) missense probably benign 0.01
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
R0792:Lamc1 UTSW 1 153,110,341 (GRCm39) missense probably damaging 1.00
R0792:Lamc1 UTSW 1 153,110,326 (GRCm39) missense possibly damaging 0.94
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 1 153,097,392 (GRCm39) frame shift probably null
R0961:Lamc1 UTSW 1 153,097,446 (GRCm39) missense probably benign 0.03
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
R1449:Lamc1 UTSW 1 153,126,241 (GRCm39) missense 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'- GTTGAAAAGGCCACGTTGCCAC -3'
(R):5'- GGGCAATTTCCAGGCTTAGACGAG -3'

Sequencing Primer
(F):5'- CCGGTGAGGGGGGAAATG -3'
(R):5'- CAGGCTTAGACGAGCCTAC -3'
Posted On 2013-04-16