Incidental Mutation 'R4422:Lamb2'
ID 327158
Institutional Source Beutler Lab
Gene Symbol Lamb2
Ensembl Gene ENSMUSG00000052911
Gene Name laminin, beta 2
Synonyms Lams, npht, Lamb-2
MMRRC Submission 041695-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R4422 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108357080-108367729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108360754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 518 (D518G)
Ref Sequence ENSEMBL: ENSMUSP00000069087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065014] [ENSMUST00000194147] [ENSMUST00000195058] [ENSMUST00000195483]
AlphaFold Q61292
Predicted Effect probably damaging
Transcript: ENSMUST00000065014
AA Change: D518G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069087
Gene: ENSMUSG00000052911
AA Change: D518G

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
LamNT 44 284 1.9e-102 SMART
EGF_Lam 286 347 1.34e-6 SMART
EGF_Lam 350 410 6.1e-10 SMART
EGF_Lam 413 470 2.98e-13 SMART
EGF_Lam 473 522 7.93e-9 SMART
EGF_Lam 525 569 1.01e-10 SMART
EGF_Lam 784 829 3.42e-13 SMART
EGF_Lam 832 875 6.54e-10 SMART
EGF_Lam 878 925 1.34e-6 SMART
EGF_Lam 928 984 4.74e-7 SMART
EGF_Lam 987 1036 1.53e-10 SMART
EGF_Lam 1039 1093 6.29e-12 SMART
EGF_Lam 1096 1141 1.79e-7 SMART
EGF_Lam 1144 1188 6.64e-11 SMART
coiled coil region 1261 1299 N/A INTRINSIC
low complexity region 1445 1458 N/A INTRINSIC
coiled coil region 1473 1527 N/A INTRINSIC
low complexity region 1609 1625 N/A INTRINSIC
SCOP:d1eq1a_ 1632 1786 5e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191864
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193301
Predicted Effect probably benign
Transcript: ENSMUST00000194147
SMART Domains Protein: ENSMUSP00000141562
Gene: ENSMUSG00000052911

DomainStartEndE-ValueType
low complexity region 59 79 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195058
SMART Domains Protein: ENSMUSP00000141757
Gene: ENSMUSG00000052911

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:Laminin_N 50 102 6.2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195483
SMART Domains Protein: ENSMUSP00000142304
Gene: ENSMUSG00000052911

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
LamNT 44 125 3e-3 SMART
Meta Mutation Damage Score 0.5304 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (67/70)
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), 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 beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit small size, severe proteinuria due to a defect in glomerular filtration, abnormalities of the retina and skeletal neuromuscular synapses, and lethality by 30 days of age. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, knock-out(2) Gene trapped(3)

Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 T C 2: 26,895,412 (GRCm39) S1168P probably benign Het
Adgrf2 T C 17: 43,024,046 (GRCm39) M142V probably benign Het
Akna G T 4: 63,305,330 (GRCm39) Q479K possibly damaging Het
Arhgef9 T G X: 94,144,670 (GRCm39) I131L possibly damaging Het
AW551984 A T 9: 39,511,373 (GRCm39) C111S probably null Het
Bak1 C A 17: 27,240,298 (GRCm39) G130W probably damaging Het
Bank1 T A 3: 135,788,972 (GRCm39) Q441L probably damaging Het
C030034I22Rik T C 17: 69,725,153 (GRCm39) noncoding transcript Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cct7 A G 6: 85,444,127 (GRCm39) R355G probably damaging Het
Cd19 C T 7: 126,012,578 (GRCm39) V272I probably benign Het
Cenpf A G 1: 189,390,547 (GRCm39) L1095S probably damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Chrm3 A T 13: 9,928,591 (GRCm39) Y148* probably null Het
Chrnb3 T C 8: 27,886,761 (GRCm39) V445A possibly damaging Het
Col4a4 T A 1: 82,467,559 (GRCm39) M852L unknown Het
Dhx29 T C 13: 113,083,781 (GRCm39) L612P probably damaging Het
Dlgap2 T C 8: 14,793,463 (GRCm39) probably null Het
Dnah17 T C 11: 117,972,799 (GRCm39) T2045A possibly damaging Het
Dync1li1 A G 9: 114,538,377 (GRCm39) T245A probably damaging Het
Epha4 T C 1: 77,488,354 (GRCm39) E42G probably damaging Het
Fam120b C A 17: 15,622,445 (GRCm39) T141K probably damaging Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Gcnt2 T G 13: 41,014,001 (GRCm39) Y57* probably null Het
Gm5409 C T 6: 41,396,519 (GRCm39) noncoding transcript Het
Hip1r A G 5: 124,135,069 (GRCm39) K402E possibly damaging Het
Hlcs G A 16: 93,939,819 (GRCm39) P506L possibly damaging Het
Itih4 T A 14: 30,611,821 (GRCm39) F142I probably damaging Het
Krt78 T C 15: 101,856,375 (GRCm39) T479A probably benign Het
Ldlr G A 9: 21,649,248 (GRCm39) C341Y probably damaging Het
Lsr G T 7: 30,665,422 (GRCm39) N177K probably benign Het
Macf1 G A 4: 123,359,839 (GRCm39) S1815F probably damaging Het
Mms22l T C 4: 24,503,008 (GRCm39) S95P probably damaging Het
Mon2 A G 10: 122,878,887 (GRCm39) L218P probably damaging Het
Nlrp4f C T 13: 65,332,776 (GRCm39) probably null Het
Nrde2 G A 12: 100,112,286 (GRCm39) Q137* probably null Het
Or12e10 C A 2: 87,640,989 (GRCm39) T275K probably damaging Het
Or51l14 G T 7: 103,101,450 (GRCm39) R302L probably damaging Het
Or6z7 G T 7: 6,484,037 (GRCm39) Y39* probably null Het
Phf24 G A 4: 42,934,817 (GRCm39) C151Y probably damaging Het
Pik3r1 T G 13: 101,830,892 (GRCm39) N3T probably benign Het
Plcb2 T C 2: 118,542,484 (GRCm39) K821E probably benign Het
Ppat A G 5: 77,063,061 (GRCm39) W517R probably damaging Het
Prelid2 T C 18: 42,045,461 (GRCm39) T150A probably benign Het
Psg21 A G 7: 18,381,257 (GRCm39) S429P probably damaging Het
Reg4 T C 3: 98,140,360 (GRCm39) Y114H possibly damaging Het
Rsbn1l G T 5: 21,101,544 (GRCm39) H665Q probably damaging Het
Rspo2 T C 15: 43,033,150 (GRCm39) N24S probably benign Het
Ryr2 G T 13: 11,731,952 (GRCm39) C2329* probably null Het
Skint2 T A 4: 112,441,785 (GRCm39) probably benign Het
Spmap2l T C 5: 77,202,383 (GRCm39) I268T possibly damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tmem53 T C 4: 117,123,149 (GRCm39) Y37H probably damaging Het
Tmem59l G A 8: 70,938,749 (GRCm39) R111W probably damaging Het
Tnks2 G A 19: 36,823,053 (GRCm39) V107I probably damaging Het
Tpcn1 T C 5: 120,680,583 (GRCm39) K549R probably damaging Het
Tubgcp4 T A 2: 121,019,882 (GRCm39) L404* probably null Het
Vmn2r86 T C 10: 130,288,845 (GRCm39) I219V possibly damaging Het
Vsig10 T C 5: 117,462,986 (GRCm39) S71P probably benign Het
Wnk1 T C 6: 119,930,856 (GRCm39) N896S probably benign Het
Zfp871 T A 17: 32,993,808 (GRCm39) S437C probably benign Het
Zfp871 C A 17: 32,993,807 (GRCm39) S456I probably benign Het
Zfp873 A G 10: 81,896,708 (GRCm39) T480A probably benign Het
Other mutations in Lamb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Lamb2 APN 9 108,364,932 (GRCm39) splice site probably null
IGL02072:Lamb2 APN 9 108,359,107 (GRCm39) nonsense probably null
IGL02079:Lamb2 APN 9 108,359,312 (GRCm39) missense probably damaging 1.00
IGL02087:Lamb2 APN 9 108,364,318 (GRCm39) missense possibly damaging 0.95
IGL02193:Lamb2 APN 9 108,366,559 (GRCm39) missense probably benign 0.00
IGL02199:Lamb2 APN 9 108,357,824 (GRCm39) missense possibly damaging 0.49
IGL02201:Lamb2 APN 9 108,364,741 (GRCm39) missense probably damaging 1.00
IGL02468:Lamb2 APN 9 108,364,348 (GRCm39) missense probably damaging 1.00
F6893:Lamb2 UTSW 9 108,359,755 (GRCm39) missense probably benign 0.12
R0053:Lamb2 UTSW 9 108,363,936 (GRCm39) nonsense probably null
R0053:Lamb2 UTSW 9 108,363,936 (GRCm39) nonsense probably null
R0122:Lamb2 UTSW 9 108,363,713 (GRCm39) missense probably benign 0.01
R0452:Lamb2 UTSW 9 108,363,553 (GRCm39) unclassified probably benign
R0524:Lamb2 UTSW 9 108,361,571 (GRCm39) missense possibly damaging 0.90
R0605:Lamb2 UTSW 9 108,363,304 (GRCm39) unclassified probably benign
R0737:Lamb2 UTSW 9 108,360,993 (GRCm39) missense probably benign 0.03
R1083:Lamb2 UTSW 9 108,360,892 (GRCm39) missense probably benign
R1159:Lamb2 UTSW 9 108,358,607 (GRCm39) missense probably damaging 1.00
R1283:Lamb2 UTSW 9 108,359,007 (GRCm39) missense possibly damaging 0.46
R1507:Lamb2 UTSW 9 108,367,581 (GRCm39) missense probably damaging 1.00
R1547:Lamb2 UTSW 9 108,359,824 (GRCm39) missense probably benign 0.00
R1576:Lamb2 UTSW 9 108,357,506 (GRCm39) missense probably damaging 0.96
R1647:Lamb2 UTSW 9 108,358,622 (GRCm39) critical splice donor site probably null
R1678:Lamb2 UTSW 9 108,360,885 (GRCm39) critical splice acceptor site probably null
R1740:Lamb2 UTSW 9 108,359,127 (GRCm39) missense probably damaging 1.00
R1803:Lamb2 UTSW 9 108,365,298 (GRCm39) missense probably benign
R1846:Lamb2 UTSW 9 108,364,586 (GRCm39) missense probably benign 0.00
R1863:Lamb2 UTSW 9 108,358,583 (GRCm39) missense probably benign 0.13
R2184:Lamb2 UTSW 9 108,357,752 (GRCm39) missense probably damaging 1.00
R2262:Lamb2 UTSW 9 108,357,809 (GRCm39) missense probably damaging 1.00
R2338:Lamb2 UTSW 9 108,359,340 (GRCm39) missense probably benign 0.20
R2483:Lamb2 UTSW 9 108,357,758 (GRCm39) missense probably damaging 1.00
R4084:Lamb2 UTSW 9 108,365,217 (GRCm39) missense probably benign 0.17
R4164:Lamb2 UTSW 9 108,367,497 (GRCm39) missense probably damaging 1.00
R4295:Lamb2 UTSW 9 108,363,410 (GRCm39) missense probably benign 0.42
R4497:Lamb2 UTSW 9 108,363,997 (GRCm39) missense probably damaging 1.00
R4880:Lamb2 UTSW 9 108,361,226 (GRCm39) splice site probably null
R4935:Lamb2 UTSW 9 108,364,700 (GRCm39) missense possibly damaging 0.93
R4977:Lamb2 UTSW 9 108,364,846 (GRCm39) missense probably damaging 0.99
R5152:Lamb2 UTSW 9 108,364,937 (GRCm39) missense probably benign
R5499:Lamb2 UTSW 9 108,365,001 (GRCm39) missense possibly damaging 0.50
R5724:Lamb2 UTSW 9 108,357,950 (GRCm39) splice site probably null
R5932:Lamb2 UTSW 9 108,357,810 (GRCm39) missense probably damaging 1.00
R5997:Lamb2 UTSW 9 108,357,587 (GRCm39) missense possibly damaging 0.65
R6052:Lamb2 UTSW 9 108,364,811 (GRCm39) nonsense probably null
R6142:Lamb2 UTSW 9 108,362,817 (GRCm39) nonsense probably null
R6245:Lamb2 UTSW 9 108,365,398 (GRCm39) splice site probably null
R6531:Lamb2 UTSW 9 108,360,925 (GRCm39) missense possibly damaging 0.78
R6557:Lamb2 UTSW 9 108,365,599 (GRCm39) missense probably damaging 1.00
R6562:Lamb2 UTSW 9 108,364,207 (GRCm39) missense possibly damaging 0.56
R6997:Lamb2 UTSW 9 108,358,496 (GRCm39) missense probably damaging 1.00
R7024:Lamb2 UTSW 9 108,366,687 (GRCm39) missense probably benign 0.00
R7116:Lamb2 UTSW 9 108,364,522 (GRCm39) missense probably damaging 1.00
R7146:Lamb2 UTSW 9 108,361,283 (GRCm39) missense possibly damaging 0.94
R7261:Lamb2 UTSW 9 108,358,496 (GRCm39) missense probably damaging 1.00
R7288:Lamb2 UTSW 9 108,365,523 (GRCm39) missense probably benign 0.20
R7404:Lamb2 UTSW 9 108,364,782 (GRCm39) missense probably damaging 1.00
R7456:Lamb2 UTSW 9 108,362,979 (GRCm39) missense possibly damaging 0.95
R7472:Lamb2 UTSW 9 108,363,347 (GRCm39) missense probably benign 0.01
R7623:Lamb2 UTSW 9 108,366,423 (GRCm39) missense possibly damaging 0.62
R8125:Lamb2 UTSW 9 108,364,722 (GRCm39) missense probably benign
R8153:Lamb2 UTSW 9 108,357,845 (GRCm39) missense probably damaging 0.99
R8154:Lamb2 UTSW 9 108,357,845 (GRCm39) missense probably damaging 0.99
R8155:Lamb2 UTSW 9 108,357,845 (GRCm39) missense probably damaging 0.99
R8156:Lamb2 UTSW 9 108,357,845 (GRCm39) missense probably damaging 0.99
R8157:Lamb2 UTSW 9 108,357,845 (GRCm39) missense probably damaging 0.99
R8419:Lamb2 UTSW 9 108,365,563 (GRCm39) missense probably benign 0.00
R8695:Lamb2 UTSW 9 108,363,365 (GRCm39) missense probably benign 0.08
R8825:Lamb2 UTSW 9 108,362,460 (GRCm39) missense probably benign 0.01
R9005:Lamb2 UTSW 9 108,361,370 (GRCm39) critical splice donor site probably null
R9315:Lamb2 UTSW 9 108,364,366 (GRCm39) missense possibly damaging 0.77
R9398:Lamb2 UTSW 9 108,364,366 (GRCm39) missense possibly damaging 0.77
R9419:Lamb2 UTSW 9 108,356,959 (GRCm39) missense unknown
R9450:Lamb2 UTSW 9 108,357,760 (GRCm39) nonsense probably null
R9495:Lamb2 UTSW 9 108,358,006 (GRCm39) missense probably damaging 1.00
R9514:Lamb2 UTSW 9 108,358,006 (GRCm39) missense probably damaging 1.00
R9529:Lamb2 UTSW 9 108,363,477 (GRCm39) missense probably benign 0.05
R9532:Lamb2 UTSW 9 108,365,830 (GRCm39) missense probably damaging 1.00
R9534:Lamb2 UTSW 9 108,365,830 (GRCm39) missense probably damaging 1.00
R9734:Lamb2 UTSW 9 108,365,830 (GRCm39) missense probably damaging 1.00
Z1176:Lamb2 UTSW 9 108,360,100 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATGGGCAAAGTCCAGTG -3'
(R):5'- AATCATGTGTTGGCGGCAG -3'

Sequencing Primer
(F):5'- ACTGAGAGCCTAGAGTCTAGTCCTG -3'
(R):5'- AGCGGCACTGACCGGTG -3'
Posted On 2015-07-07