Incidental Mutation 'R9495:Lamb2'
ID 717168
Institutional Source Beutler Lab
Gene Symbol Lamb2
Ensembl Gene ENSMUSG00000052911
Gene Name laminin, beta 2
Synonyms Lams, npht, Lamb-2
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R9495 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 108357080-108367729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108358006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 149 (T149I)
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: T149I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069087
Gene: ENSMUSG00000052911
AA Change: T149I

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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), 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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T A 15: 79,019,842 (GRCm39) D158V probably benign Het
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Aadacl2fm1 T C 3: 59,840,114 (GRCm39) I62T possibly damaging Het
Acp5 G A 9: 22,038,483 (GRCm39) Q273* probably null Het
Apoa5 G C 9: 46,181,944 (GRCm39) R340P probably damaging Het
Atp2b1 T A 10: 98,835,660 (GRCm39) N468K probably damaging Het
Bltp3a A G 17: 28,112,414 (GRCm39) D1201G probably damaging Het
Bphl A T 13: 34,234,312 (GRCm39) I143L probably benign Het
Cd33 A T 7: 43,182,150 (GRCm39) H98Q probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cemip2 T A 19: 21,779,249 (GRCm39) V353D probably damaging Het
Cfap96 C T 8: 46,409,458 (GRCm39) S287N probably damaging Het
Colec10 A G 15: 54,325,761 (GRCm39) D197G probably damaging Het
Cpt1a T C 19: 3,433,795 (GRCm39) M759T probably benign Het
Ctc1 A G 11: 68,913,593 (GRCm39) Y165C probably damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dnah2 T C 11: 69,345,208 (GRCm39) D2667G possibly damaging Het
Dok1 T C 6: 83,009,972 (GRCm39) K46E probably damaging Het
Erv3 C A 2: 131,697,975 (GRCm39) W128L possibly damaging Het
Fam186a A G 15: 99,844,766 (GRCm39) S493P unknown Het
Fbn1 A T 2: 125,160,984 (GRCm39) N2185K probably damaging Het
Figla A C 6: 85,997,689 (GRCm39) H139P probably benign Het
Gemin4 A G 11: 76,101,749 (GRCm39) L1004P probably damaging Het
Gm11937 T C 11: 99,500,646 (GRCm39) T124A unknown Het
Gm17669 G T 18: 67,695,682 (GRCm39) V76L probably benign Het
H2ac21 A G 3: 96,127,401 (GRCm39) E57G probably damaging Het
Hcls1 A T 16: 36,777,702 (GRCm39) M274L probably benign Het
Il17rc T C 6: 113,449,741 (GRCm39) S116P probably damaging Het
Krt79 G A 15: 101,840,288 (GRCm39) R303C probably damaging Het
Lrrc41 T A 4: 115,932,806 (GRCm39) probably null Het
Mga C A 2: 119,781,676 (GRCm39) T2234K possibly damaging Het
Mix23 A G 16: 35,892,491 (GRCm39) E12G probably benign Het
Muc6 T A 7: 141,237,398 (GRCm39) Q205L probably damaging Het
Nlrp9b A T 7: 19,760,462 (GRCm39) K624N possibly damaging Het
Or1o4 G T 17: 37,591,386 (GRCm39) probably benign Het
Or4d2 C T 11: 87,784,082 (GRCm39) V223M probably benign Het
Or6e1 T C 14: 54,520,137 (GRCm39) T72A probably damaging Het
Otud4 T C 8: 80,400,087 (GRCm39) S934P probably damaging Het
Pcdha12 G T 18: 37,155,526 (GRCm39) W748C probably damaging Het
Pdc T C 1: 150,208,919 (GRCm39) I134T probably damaging Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pkn1 C T 8: 84,410,799 (GRCm39) R276Q possibly damaging Het
Plin3 C A 17: 56,587,824 (GRCm39) G297V probably benign Het
Podn C T 4: 107,876,106 (GRCm39) V517I probably benign Het
Pomk T C 8: 26,473,344 (GRCm39) D203G probably damaging Het
Ppil4 A G 10: 7,675,355 (GRCm39) D168G probably damaging Het
Ptgr2 T C 12: 84,354,647 (GRCm39) I276T probably benign Het
Ptk7 T A 17: 46,887,744 (GRCm39) I563F possibly damaging Het
Rbm12 G T 2: 155,939,738 (GRCm39) T178K unknown Het
Sctr T C 1: 119,959,403 (GRCm39) probably null Het
Sh2b1 GGGACC GGGACCGGCTCAGCCACGTGGACC 7: 126,066,744 (GRCm39) probably benign Het
Spata31e4 T A 13: 50,855,465 (GRCm39) S368T possibly damaging Het
Steap1 A T 5: 5,786,458 (GRCm39) D326E probably damaging Het
Stra6 G A 9: 58,059,175 (GRCm39) V513I probably benign Het
Tbx19 A G 1: 164,966,546 (GRCm39) S443P unknown Het
Tcea3 T A 4: 135,991,885 (GRCm39) C190S probably damaging Het
Tfr2 G A 5: 137,572,701 (GRCm39) V171I probably benign Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem129 A G 5: 33,815,122 (GRCm39) V17A probably benign Het
Tmem87b T C 2: 128,660,353 (GRCm39) L32P probably damaging Het
Tor1aip1 T A 1: 155,906,177 (GRCm39) D205V probably damaging Het
Trim33 T C 3: 103,239,074 (GRCm39) V684A probably benign Het
Triobp C T 15: 78,877,378 (GRCm39) R1637C probably damaging Het
Ulbp1 C A 10: 7,406,371 (GRCm39) M196I probably benign Het
Vash1 G A 12: 86,738,663 (GRCm39) G370E probably damaging Het
Vmn2r23 A G 6: 123,689,672 (GRCm39) T183A probably benign Het
Vta1 A G 10: 14,531,583 (GRCm39) I264T probably benign Het
Zcchc8 A T 5: 123,838,633 (GRCm39) M635K 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
R4422:Lamb2 UTSW 9 108,360,754 (GRCm39) missense probably damaging 0.99
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
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'- CCCAAATAGTCATCGGATCCAG -3'
(R):5'- AGAGCATGTGCAGAGGTGTTC -3'

Sequencing Primer
(F):5'- CAGAATGTAGTCACCAGCTTTGCG -3'
(R):5'- GTGTTCAACTATGGAAGCCATGC -3'
Posted On 2022-07-18