Incidental Mutation 'R1863:Lamb2'
ID 204127
Institutional Source Beutler Lab
Gene Symbol Lamb2
Ensembl Gene ENSMUSG00000052911
Gene Name laminin, beta 2
Synonyms Lams, npht, Lamb-2
MMRRC Submission 039886-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R1863 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 108357080-108367729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108358583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 207 (S207P)
Ref Sequence ENSEMBL: ENSMUSP00000069087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065014] [ENSMUST00000194147] [ENSMUST00000195058] [ENSMUST00000195483]
AlphaFold Q61292
Predicted Effect probably benign
Transcript: ENSMUST00000065014
AA Change: S207P

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000069087
Gene: ENSMUSG00000052911
AA Change: S207P

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 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: 97.5%
  • 3x: 96.9%
  • 10x: 95.0%
  • 20x: 90.8%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,527,746 (GRCm39) S1015T probably damaging Het
Adamts10 T A 17: 33,770,406 (GRCm39) probably null Het
Adgrv1 G A 13: 81,711,685 (GRCm39) T1097I probably damaging Het
Apeh T C 9: 107,969,302 (GRCm39) Y274C possibly damaging Het
Apobec3 A G 15: 79,782,068 (GRCm39) D26G possibly damaging Het
Arg2 C T 12: 79,196,794 (GRCm39) Q172* probably null Het
Asb18 C T 1: 89,942,104 (GRCm39) V66I probably benign Het
Cacna1i G A 15: 80,243,132 (GRCm39) G430S probably damaging Het
Cadps A G 14: 12,449,802 (GRCm38) S1136P possibly damaging Het
Cadps A G 14: 12,505,796 (GRCm38) V758A probably benign Het
Calhm3 A G 19: 47,140,539 (GRCm39) W185R probably damaging Het
Car5b T C X: 162,774,369 (GRCm39) D146G probably damaging Het
Card10 G A 15: 78,664,714 (GRCm39) R747W probably damaging Het
Cd300lg T G 11: 101,932,430 (GRCm39) V5G probably damaging Het
Cd46 C A 1: 194,765,931 (GRCm39) G145C probably damaging Het
Chit1 T C 1: 134,078,988 (GRCm39) S433P probably damaging Het
Cntrl G A 2: 35,008,131 (GRCm39) E182K possibly damaging Het
Col6a5 T A 9: 105,817,400 (GRCm39) M304L unknown Het
Cplane1 A G 15: 8,258,077 (GRCm39) I2108V probably benign Het
Cpxm2 C T 7: 131,745,392 (GRCm39) probably null Het
Dbf4 G A 5: 8,447,375 (GRCm39) Q612* probably null Het
Dnah11 G C 12: 118,027,587 (GRCm39) Q1835E possibly damaging Het
Ehbp1l1 A T 19: 5,767,882 (GRCm39) N1140K probably benign Het
Eps8l1 C A 7: 4,468,359 (GRCm39) probably benign Het
Fbxl21 A T 13: 56,674,876 (GRCm39) I76L probably benign Het
Gcnt2 A T 13: 41,014,577 (GRCm39) K249N possibly damaging Het
Gm5819 A G 18: 8,694,179 (GRCm39) T35A probably benign Het
Gm8180 T C 14: 44,021,139 (GRCm39) E23G probably benign Het
Gorab A G 1: 163,231,131 (GRCm39) F8L probably damaging Het
Hlf A G 11: 90,231,652 (GRCm39) L274S probably damaging Het
Il15ra T A 2: 11,728,247 (GRCm39) S137T possibly damaging Het
Krt78 A T 15: 101,855,004 (GRCm39) C936S possibly damaging Het
Lce1a1 T C 3: 92,554,118 (GRCm39) S119G unknown Het
Lipo3 A G 19: 33,762,092 (GRCm39) F135S probably damaging Het
Lrp4 T A 2: 91,328,708 (GRCm39) L1536Q probably benign Het
Lrrc25 T C 8: 71,070,596 (GRCm39) S126P possibly damaging Het
Mbd3l2 T C 9: 18,356,217 (GRCm39) S181P possibly damaging Het
Msantd5f6 A T 4: 73,320,037 (GRCm39) Y247* probably null Het
Mss51 C T 14: 20,534,936 (GRCm39) R278H probably damaging Het
Myom3 G A 4: 135,505,348 (GRCm39) M412I probably benign Het
Naa25 T C 5: 121,573,611 (GRCm39) V780A probably benign Het
Naip6 A T 13: 100,437,067 (GRCm39) F485L probably benign Het
Notch1 T C 2: 26,359,962 (GRCm39) Y1251C probably damaging Het
Npas3 A G 12: 54,115,609 (GRCm39) N826D probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or2t47 T C 11: 58,442,849 (GRCm39) Y72C probably benign Het
Or4a74 A T 2: 89,440,053 (GRCm39) L131* probably null Het
Or4c35 A T 2: 89,808,754 (GRCm39) I211F probably benign Het
Or5p57 A C 7: 107,665,932 (GRCm39) Y24* probably null Het
Or6c66 T C 10: 129,461,217 (GRCm39) T238A probably damaging Het
Or8c8 T G 9: 38,165,016 (GRCm39) M101R probably damaging Het
Or8s16 G T 15: 98,211,372 (GRCm39) Q20K probably benign Het
Osbpl6 G A 2: 76,415,402 (GRCm39) R588H probably damaging Het
Pcdhb17 A T 18: 37,619,164 (GRCm39) D318V probably benign Het
Pcnx2 T A 8: 126,545,525 (GRCm39) E1162V probably damaging Het
Pde2a G A 7: 101,160,361 (GRCm39) R845H probably damaging Het
Pkhd1 G T 1: 20,621,244 (GRCm39) R805S probably benign Het
Ppl T C 16: 4,905,844 (GRCm39) K1484E possibly damaging Het
Pramel7 T C 2: 87,321,675 (GRCm39) E120G probably benign Het
Prg4 T A 1: 150,336,420 (GRCm39) D60V probably damaging Het
Prpf6 T A 2: 181,249,967 (GRCm39) D42E possibly damaging Het
Rbm5 C T 9: 107,627,718 (GRCm39) V408I possibly damaging Het
Rsrp1 G T 4: 134,651,388 (GRCm39) D51Y unknown Het
Sec22a A G 16: 35,168,088 (GRCm39) M141T probably damaging Het
Spryd3 A G 15: 102,026,094 (GRCm39) S417P probably benign Het
Sptbn2 A G 19: 4,782,713 (GRCm39) M550V possibly damaging Het
Sugt1 C T 14: 79,846,434 (GRCm39) T157I probably damaging Het
Syne4 T C 7: 30,016,308 (GRCm39) V168A probably benign Het
Tas2r122 A T 6: 132,688,065 (GRCm39) L276* probably null Het
Tbc1d14 G A 5: 36,665,037 (GRCm39) S231F probably damaging Het
Tenm3 T A 8: 48,729,381 (GRCm39) I1526F probably benign Het
Tgm2 C T 2: 157,966,139 (GRCm39) C505Y probably damaging Het
Thop1 T C 10: 80,909,151 (GRCm39) Y61H probably damaging Het
Ticam1 G A 17: 56,578,436 (GRCm39) H220Y probably damaging Het
Tle6 T C 10: 81,427,755 (GRCm39) D500G possibly damaging Het
Tm6sf2 T A 8: 70,532,375 (GRCm39) L345Q probably damaging Het
Tnxb T C 17: 34,889,848 (GRCm39) C114R probably damaging Het
Topors G T 4: 40,262,149 (GRCm39) C378* probably null Het
Ttc6 G A 12: 57,760,881 (GRCm39) G1544R probably benign Het
Vmn2r4 A T 3: 64,314,410 (GRCm39) N190K probably benign Het
Wdr70 C A 15: 7,950,054 (GRCm39) V447F probably benign Het
Xpa A G 4: 46,155,730 (GRCm39) probably benign Het
Xrcc1 T C 7: 24,270,000 (GRCm39) S474P possibly damaging Het
Zfp658 T G 7: 43,223,323 (GRCm39) F533V possibly damaging Het
Zfp799 G A 17: 33,038,374 (GRCm39) H631Y 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
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
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'- CGTAACCTAGGCTGGACTGAAG -3'
(R):5'- CACTCTGAATCCGTGAGCTG -3'

Sequencing Primer
(F):5'- GGTTCCTGCTAGTCAGACATGTC -3'
(R):5'- CTCTGAATCCGTGAGCTGTAGGG -3'
Posted On 2014-06-23