Incidental Mutation 'R6562:Lamb2'
ID 522471
Institutional Source Beutler Lab
Gene Symbol Lamb2
Ensembl Gene ENSMUSG00000052911
Gene Name laminin, beta 2
Synonyms Lams, npht, Lamb-2
MMRRC Submission 044686-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R6562 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108357080-108367729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108364207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 1049 (R1049W)
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 possibly damaging
Transcript: ENSMUST00000065014
AA Change: R1049W

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000069087
Gene: ENSMUSG00000052911
AA Change: R1049W

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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194421
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,970,543 (GRCm39) K26E probably benign Het
Abt1 T G 13: 23,607,758 (GRCm39) E82A probably damaging Het
Actr8 A G 14: 29,708,411 (GRCm39) probably null Het
Akap12 G T 10: 4,306,141 (GRCm39) E984* probably null Het
Ankrd13a C A 5: 114,942,453 (GRCm39) probably benign Het
Ankrd13c T A 3: 157,705,309 (GRCm39) S411T probably damaging Het
Arhgef28 A G 13: 98,124,647 (GRCm39) probably null Het
Arhgef3 A T 14: 26,874,953 (GRCm39) probably benign Het
Atad5 T C 11: 80,024,032 (GRCm39) S1712P probably benign Het
Bbs12 A G 3: 37,374,389 (GRCm39) E394G probably damaging Het
Ccdc158 T G 5: 92,810,581 (GRCm39) K102N probably damaging Het
Ccdc169 A G 3: 55,058,235 (GRCm39) N89S probably damaging Het
Cd200l1 C T 16: 45,264,442 (GRCm39) E39K probably benign Het
Cenpu T C 8: 47,025,858 (GRCm39) I132T possibly damaging Het
Cnrip1 G A 11: 17,028,539 (GRCm39) W157* probably null Het
Ctnnd1 A G 2: 84,454,652 (GRCm39) S53P probably benign Het
Dcpp3 AGGCCATGCTGGCC AGGCC 17: 24,136,572 (GRCm39) probably benign Het
Dock7 A T 4: 98,879,647 (GRCm39) V969D probably damaging Het
Ehd2 C A 7: 15,691,492 (GRCm39) R280L probably benign Het
Entpd5 T C 12: 84,432,974 (GRCm39) T218A probably damaging Het
Fcrl2 A C 3: 87,164,635 (GRCm39) I297S probably benign Het
Frmpd2 T A 14: 33,293,872 (GRCm39) L1346Q probably benign Het
Fry T C 5: 150,249,614 (GRCm39) S142P probably damaging Het
Gbgt1 A T 2: 28,394,898 (GRCm39) I179F probably damaging Het
Gm17067 A T 7: 42,358,153 (GRCm39) S116R probably damaging Het
Gm5565 G T 5: 146,094,964 (GRCm39) P261T probably damaging Het
Kat6a T C 8: 23,401,803 (GRCm39) F391L probably benign Het
Kcnmb4 A T 10: 116,309,089 (GRCm39) probably null Het
Krt6a T A 15: 101,600,094 (GRCm39) H386L probably benign Het
L3mbtl1 C T 2: 162,812,124 (GRCm39) T723I probably benign Het
Lrmda T C 14: 22,648,254 (GRCm39) probably benign Het
Lysmd2 C T 9: 75,542,691 (GRCm39) T95I unknown Het
Ndst3 A G 3: 123,346,181 (GRCm39) S698P probably damaging Het
Nin T C 12: 70,102,728 (GRCm39) D300G probably damaging Het
Nutf2 G T 8: 106,602,258 (GRCm39) D23Y probably benign Het
Or6c211 G A 10: 129,506,008 (GRCm39) P127S probably damaging Het
Ovgp1 A G 3: 105,887,589 (GRCm39) Y300C probably damaging Het
Pgghg A G 7: 140,526,506 (GRCm39) I633V probably benign Het
Pik3r3 C T 4: 116,157,006 (GRCm39) Q496* probably null Het
Pkn3 G T 2: 29,970,699 (GRCm39) probably null Het
Plin2 A T 4: 86,576,832 (GRCm39) S298T probably benign Het
Prdm8 T C 5: 98,331,202 (GRCm39) V18A possibly damaging Het
Rel C A 11: 23,707,026 (GRCm39) G59* probably null Het
Siglecg A G 7: 43,058,481 (GRCm39) R123G possibly damaging Het
Slc13a1 T A 6: 24,150,792 (GRCm39) I49F probably benign Het
Slc39a10 T A 1: 46,874,724 (GRCm39) T193S probably benign Het
Slc9a3 T A 13: 74,303,280 (GRCm39) V191E probably damaging Het
Spata31e2 T A 1: 26,721,443 (GRCm39) T1246S possibly damaging Het
Sult2b1 A C 7: 45,391,670 (GRCm39) S39A probably benign Het
Tead1 A G 7: 112,460,650 (GRCm39) T185A probably benign Het
Tmem67 A G 4: 12,053,445 (GRCm39) probably null Het
Trim12c A T 7: 103,994,341 (GRCm39) probably null Het
Trpm6 T A 19: 18,815,406 (GRCm39) F1164Y probably damaging Het
Ube2d1 C T 10: 71,098,071 (GRCm39) D16N probably benign Het
Vmn2r24 A T 6: 123,757,386 (GRCm39) I85F probably benign Het
Vwde T A 6: 13,193,122 (GRCm39) N406Y possibly damaging Het
Wdr54 A T 6: 83,132,050 (GRCm39) probably null Het
Zcchc14 A T 8: 122,330,842 (GRCm39) N840K probably damaging Het
Zfp451 C A 1: 33,801,260 (GRCm39) S1052I possibly 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
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'- TTGCAAGCCTGGCTTCCATG -3'
(R):5'- CATGGCAAATTGCTGGCTCC -3'

Sequencing Primer
(F):5'- TTCCATGGGCAAGCTGC -3'
(R):5'- CAGGATTTCGTACCTCATTGCAGG -3'
Posted On 2018-06-06