Incidental Mutation 'R8155:Lamb2'
ID 633272
Institutional Source Beutler Lab
Gene Symbol Lamb2
Ensembl Gene ENSMUSG00000052911
Gene Name laminin, beta 2
Synonyms Lams, npht, Lamb-2
MMRRC Submission 067581-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R8155 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108357080-108367729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108357845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 123 (R123W)
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: R123W

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069087
Gene: ENSMUSG00000052911
AA Change: R123W

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 damaging
Transcript: ENSMUST00000195483
AA Change: R123W

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142304
Gene: ENSMUSG00000052911
AA Change: R123W

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
LamNT 44 125 3e-3 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.9%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,330,497 (GRCm39) T1386I probably damaging Het
Abcb6 A T 1: 75,151,413 (GRCm39) V504E probably damaging Het
Abtb3 G A 10: 85,476,473 (GRCm39) probably null Het
Adprhl1 C T 8: 13,271,764 (GRCm39) A1665T probably damaging Het
Arhgap32 T A 9: 32,093,196 (GRCm39) L183H probably damaging Het
Arhgef12 A G 9: 42,953,958 (GRCm39) L24S probably damaging Het
B3gnt4 C T 5: 123,649,426 (GRCm39) H264Y possibly damaging Het
Cfi A G 3: 129,648,739 (GRCm39) T208A probably benign Het
Chd4 T A 6: 125,082,287 (GRCm39) F605Y probably benign Het
Cimap1d A T 10: 79,481,466 (GRCm39) V21E probably benign Het
Clip1 A G 5: 123,751,699 (GRCm39) L694P Het
Crybb3 A T 5: 113,225,466 (GRCm39) D135E probably damaging Het
Ddx60 T A 8: 62,470,205 (GRCm39) S1398T possibly damaging Het
Dusp5 T A 19: 53,529,537 (GRCm39) Y313* probably null Het
Eloa A G 4: 135,734,438 (GRCm39) V689A probably benign Het
Ep300 T A 15: 81,505,269 (GRCm39) Y630N unknown Het
Galnt5 A T 2: 57,889,427 (GRCm39) K342N probably benign Het
Gm4841 A G 18: 60,403,409 (GRCm39) V228A probably damaging Het
Gna14 A T 19: 16,576,338 (GRCm39) D115V probably benign Het
Gpx5 T C 13: 21,472,917 (GRCm39) D139G probably damaging Het
Hmcn1 G T 1: 150,480,705 (GRCm39) N4490K probably damaging Het
Hsp90aa1 T C 12: 110,661,828 (GRCm39) S63G unknown Het
Itpkb T C 1: 180,159,913 (GRCm39) I13T possibly damaging Het
Itprid2 T C 2: 79,475,177 (GRCm39) S379P probably benign Het
Ldha A G 7: 46,503,508 (GRCm39) H300R probably damaging Het
Lrp2 A G 2: 69,313,342 (GRCm39) L2463P possibly damaging Het
Morf4l1 A G 9: 89,977,225 (GRCm39) I232T probably damaging Het
Mtg1 A G 7: 139,724,622 (GRCm39) H166R probably benign Het
Or14a260 A G 7: 85,985,386 (GRCm39) S73P probably damaging Het
Or2ad1 A G 13: 21,327,062 (GRCm39) L55P probably damaging Het
Or52r1 C T 7: 102,536,452 (GRCm39) D303N probably benign Het
Or5d46 A G 2: 88,170,296 (GRCm39) N129S probably damaging Het
Or6d12 T A 6: 116,492,813 (GRCm39) V25E probably benign Het
Or7g32 A T 9: 19,389,453 (GRCm39) V31D probably benign Het
Papss2 A G 19: 32,618,742 (GRCm39) T267A probably benign Het
Park7 G A 4: 150,991,547 (GRCm39) R48C possibly damaging Het
Pecr A G 1: 72,309,443 (GRCm39) V199A probably damaging Het
Pla2g10 G A 16: 13,543,048 (GRCm39) R80W probably damaging Het
Plek2 G A 12: 78,943,066 (GRCm39) R77* probably null Het
Psg23 A G 7: 18,346,179 (GRCm39) L172P probably damaging Het
Psg25 A C 7: 18,260,445 (GRCm39) F151C probably benign Het
Ptpn3 G T 4: 57,232,336 (GRCm39) H433Q probably benign Het
Rasal3 A G 17: 32,616,381 (GRCm39) V294A possibly damaging Het
Rnf6 T C 5: 146,147,815 (GRCm39) D401G probably damaging Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sema3d T C 5: 12,498,148 (GRCm39) probably null Het
Serpinb1c A T 13: 33,081,038 (GRCm39) L15Q probably damaging Het
Slfn3 T A 11: 83,103,611 (GRCm39) Y161N probably damaging Het
Spns2 T C 11: 72,347,394 (GRCm39) M404V possibly damaging Het
Stk39 T A 2: 68,097,410 (GRCm39) I479L probably damaging Het
Tbx15 C A 3: 99,259,886 (GRCm39) Q586K possibly damaging Het
Thap11 C T 8: 106,582,854 (GRCm39) R288* probably null Het
Tm7sf2 T A 19: 6,114,125 (GRCm39) D236V probably damaging Het
Tmem214 T C 5: 31,029,136 (GRCm39) S192P possibly damaging Het
Tnfaip3 A G 10: 18,880,439 (GRCm39) S543P possibly damaging Het
Traf3ip3 A G 1: 192,860,524 (GRCm39) L466P probably damaging Het
Tspan18 C T 2: 93,040,357 (GRCm39) probably null Het
Vmn1r229 T A 17: 21,035,472 (GRCm39) L239Q probably damaging Het
Vsig2 T C 9: 37,455,329 (GRCm39) V293A possibly damaging Het
Wdfy4 A T 14: 32,884,776 (GRCm39) V42D Het
Wnk2 G A 13: 49,192,577 (GRCm39) P2055S unknown Het
Zfp953 C A 13: 67,491,535 (GRCm39) C139F probably damaging 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
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'- TGTATTGTCAGTCACCTGCAGG -3'
(R):5'- CCTTGAACGTCATAATGAGGTG -3'

Sequencing Primer
(F):5'- CCTGCAGGTGCTTCTGG -3'
(R):5'- TGGGTGAAATGAAACTCAGCTTCC -3'
Posted On 2020-06-30