Incidental Mutation 'R1846:Lamb2'
ID 207738
Institutional Source Beutler Lab
Gene Symbol Lamb2
Ensembl Gene ENSMUSG00000052911
Gene Name laminin, beta 2
Synonyms Lams, npht, Lamb-2
MMRRC Submission 039871-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R1846 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108357080-108367729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 108364586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 1142 (R1142H)
Ref Sequence ENSEMBL: ENSMUSP00000069087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006854] [ENSMUST00000065014] [ENSMUST00000085044] [ENSMUST00000166103] [ENSMUST00000178075] [ENSMUST00000193678]
AlphaFold Q61292
Predicted Effect probably benign
Transcript: ENSMUST00000006854
SMART Domains Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676

DomainStartEndE-ValueType
Pfam:CS 55 129 1.3e-6 PFAM
low complexity region 257 268 N/A INTRINSIC
Pfam:CS 326 414 7.1e-19 PFAM
Pfam:USP19_linker 415 537 2.2e-61 PFAM
Pfam:UCH 538 1253 1.2e-77 PFAM
Pfam:UCH_1 539 874 8.6e-11 PFAM
Pfam:zf-MYND 833 875 9.9e-11 PFAM
Pfam:UCH_1 1021 1235 7.1e-10 PFAM
low complexity region 1278 1287 N/A INTRINSIC
low complexity region 1301 1312 N/A INTRINSIC
transmembrane domain 1333 1355 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000065014
AA Change: R1142H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000069087
Gene: ENSMUSG00000052911
AA Change: R1142H

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: ENSMUST00000085044
SMART Domains Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676

DomainStartEndE-ValueType
Pfam:CS 55 129 4.7e-7 PFAM
low complexity region 257 268 N/A INTRINSIC
Pfam:CS 326 414 2.5e-15 PFAM
low complexity region 449 460 N/A INTRINSIC
low complexity region 524 530 N/A INTRINSIC
Pfam:UCH 538 1253 7.4e-84 PFAM
Pfam:UCH_1 539 879 2.3e-13 PFAM
Pfam:zf-MYND 833 875 2.4e-10 PFAM
Pfam:UCH_1 1020 1235 2.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166103
SMART Domains Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676

DomainStartEndE-ValueType
Pfam:CS 55 129 2.6e-7 PFAM
low complexity region 257 268 N/A INTRINSIC
Pfam:CS 326 390 3.9e-9 PFAM
low complexity region 425 436 N/A INTRINSIC
low complexity region 500 506 N/A INTRINSIC
Pfam:UCH 514 1229 1.8e-84 PFAM
Pfam:UCH_1 515 855 5.5e-14 PFAM
Pfam:zf-MYND 809 851 1.7e-10 PFAM
Pfam:UCH_1 996 1211 6.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178075
SMART Domains Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676

DomainStartEndE-ValueType
Pfam:CS 55 129 1e-6 PFAM
low complexity region 258 269 N/A INTRINSIC
Pfam:CS 327 415 5.4e-15 PFAM
low complexity region 450 461 N/A INTRINSIC
low complexity region 525 531 N/A INTRINSIC
Pfam:UCH 539 1254 4.9e-84 PFAM
Pfam:UCH_1 540 880 1.4e-13 PFAM
Pfam:zf-MYND 834 876 5.2e-10 PFAM
Pfam:UCH_1 1021 1236 1.8e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194421
Predicted Effect probably benign
Transcript: ENSMUST00000193678
SMART Domains Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676

DomainStartEndE-ValueType
Pfam:CS 55 129 6.8e-7 PFAM
low complexity region 258 269 N/A INTRINSIC
Pfam:CS 327 415 3.6e-15 PFAM
low complexity region 448 459 N/A INTRINSIC
low complexity region 523 529 N/A INTRINSIC
Pfam:UCH 537 1252 3.8e-84 PFAM
Pfam:UCH_1 538 878 1.1e-13 PFAM
Pfam:zf-MYND 832 874 5.1e-10 PFAM
Pfam:UCH_1 1019 1234 1.4e-11 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
Validation Efficiency 99% (75/76)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik G A 7: 12,246,809 (GRCm39) R63Q probably benign Het
Adamts20 A T 15: 94,243,871 (GRCm39) C619S probably damaging Het
Alx1 T C 10: 102,861,165 (GRCm39) D121G possibly damaging Het
Anks3 A C 16: 4,771,748 (GRCm39) M215R probably benign Het
Anxa4 T A 6: 86,718,893 (GRCm39) probably null Het
Arhgef25 A G 10: 127,021,733 (GRCm39) V222A probably damaging Het
Bglap2 A G 3: 88,285,932 (GRCm39) probably benign Het
Cars2 A G 8: 11,564,674 (GRCm39) V22A probably benign Het
Ccdc198 G T 14: 49,473,420 (GRCm39) L102I probably damaging Het
Cenpe T A 3: 134,945,606 (GRCm39) I1040N probably damaging Het
Cep170 C T 1: 176,583,335 (GRCm39) D1015N probably damaging Het
Chia1 T A 3: 106,038,181 (GRCm39) I359N probably damaging Het
Crot A T 5: 9,038,248 (GRCm39) V93E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnmbp T C 19: 43,891,186 (GRCm39) I194V probably damaging Het
Dock4 T A 12: 40,783,267 (GRCm39) C734S probably benign Het
Eif4e3 T C 6: 99,617,662 (GRCm39) S70G probably benign Het
Entpd3 G A 9: 120,387,441 (GRCm39) D213N probably benign Het
Ern2 T G 7: 121,775,759 (GRCm39) Y445S probably benign Het
Fasn A G 11: 120,704,133 (GRCm39) S1429P probably benign Het
Fat4 A G 3: 39,036,532 (GRCm39) I3395V probably benign Het
Fbln2 C A 6: 91,233,399 (GRCm39) Q628K possibly damaging Het
Fbxo28 T C 1: 182,153,845 (GRCm39) N164D probably benign Het
Fez1 T C 9: 36,779,063 (GRCm39) S247P probably damaging Het
Gars1 A G 6: 55,040,153 (GRCm39) D360G probably benign Het
Gcfc2 A T 6: 81,933,873 (GRCm39) Q710L probably damaging Het
Ggt5 A G 10: 75,446,376 (GRCm39) probably null Het
Glp1r A G 17: 31,148,909 (GRCm39) probably null Het
Hspa14 T C 2: 3,492,697 (GRCm39) D356G possibly damaging Het
Htt T A 5: 35,006,288 (GRCm39) I1399N probably damaging Het
Kmt2e G A 5: 23,704,484 (GRCm39) probably benign Het
Krt36 C A 11: 99,996,374 (GRCm39) G17C probably damaging Het
Lama2 T C 10: 27,088,092 (GRCm39) E895G probably damaging Het
Lhcgr C T 17: 89,072,575 (GRCm39) probably null Het
Lpin2 A G 17: 71,532,064 (GRCm39) T140A probably benign Het
Metap1 A G 3: 138,186,443 (GRCm39) probably benign Het
Mpeg1 T C 19: 12,440,486 (GRCm39) V648A probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Muc4 T A 16: 32,752,369 (GRCm38) I749N probably benign Het
N4bp2 T C 5: 65,965,862 (GRCm39) F1304L probably damaging Het
Nup85 A G 11: 115,459,239 (GRCm39) E114G probably benign Het
Or2a5 A G 6: 42,874,254 (GRCm39) S290G probably damaging Het
Or4c10 A G 2: 89,761,010 (GRCm39) T286A possibly damaging Het
Or6b2b A T 1: 92,418,822 (GRCm39) Y218* probably null Het
Pafah2 GCCCC GCCCCC 4: 134,152,852 (GRCm39) probably null Het
Parp2 T A 14: 51,052,843 (GRCm39) C145* probably null Het
Plpp6 T C 19: 28,941,680 (GRCm39) S94P probably benign Het
Polr1a T C 6: 71,953,172 (GRCm39) I1580T probably damaging Het
Polrmt A T 10: 79,574,043 (GRCm39) V860E probably damaging Het
Ppp1r17 A G 6: 55,999,412 (GRCm39) E15G possibly damaging Het
Prl7b1 A T 13: 27,786,831 (GRCm39) W133R probably damaging Het
Ptk7 A G 17: 46,887,416 (GRCm39) probably null Het
Rad23b C T 4: 55,383,637 (GRCm39) Q290* probably null Het
Rorb C T 19: 18,932,445 (GRCm39) E369K probably damaging Het
Rusc1 T C 3: 88,999,452 (GRCm39) D110G probably damaging Het
Smg7 A G 1: 152,724,601 (GRCm39) S527P probably damaging Het
Ssbp2 C T 13: 91,812,268 (GRCm39) P105L probably damaging Het
Stt3a C T 9: 36,674,681 (GRCm39) R34H probably damaging Het
Sufu T A 19: 46,439,386 (GRCm39) I202N possibly damaging Het
Thsd7b G A 1: 129,540,993 (GRCm39) R289Q probably damaging Het
Tph1 A T 7: 46,309,863 (GRCm39) S130T probably damaging Het
Ttn A G 2: 76,776,030 (GRCm39) S1671P probably damaging Het
Usp4 A G 9: 108,249,935 (GRCm39) I441V probably benign Het
Vmn1r8 A G 6: 57,013,413 (GRCm39) N155D probably benign Het
Vmn2r115 A C 17: 23,578,357 (GRCm39) K610T probably damaging Het
Vmn2r62 G A 7: 42,438,546 (GRCm39) P97S probably damaging Het
Zbtb40 T C 4: 136,735,150 (GRCm39) D297G probably benign Het
Zfp174 C A 16: 3,672,599 (GRCm39) Q383K probably benign Het
Zfp318 T A 17: 46,724,592 (GRCm39) D2198E probably benign Het
Zfp628 C T 7: 4,923,866 (GRCm39) P696L possibly damaging Het
Zgrf1 T A 3: 127,409,112 (GRCm39) N1695K 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
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
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'- TAGAGGGAGCCAGCAATTTGC -3'
(R):5'- AGTCTCCAAAGCAAGCGTG -3'

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