Incidental Mutation 'R2147:Lamb3'
ID 233885
Institutional Source Beutler Lab
Gene Symbol Lamb3
Ensembl Gene ENSMUSG00000026639
Gene Name laminin, beta 3
Synonyms nicein, 125kDa
MMRRC Submission 040150-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.666) question?
Stock # R2147 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 192976661-193026186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 193010212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 275 (V275A)
Ref Sequence ENSEMBL: ENSMUSP00000142053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016315] [ENSMUST00000159955] [ENSMUST00000192322] [ENSMUST00000194677]
AlphaFold Q61087
Predicted Effect probably benign
Transcript: ENSMUST00000016315
AA Change: V275A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639
AA Change: V275A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LamNT 20 248 7.63e-84 SMART
EGF_Lam 250 310 1.67e-7 SMART
EGF_Lam 313 373 1.14e-9 SMART
EGF_Lam 376 425 5.56e-13 SMART
EGF_Lam 428 475 6.05e-14 SMART
EGF_Lam 478 528 5e-6 SMART
EGF_Lam 531 575 3.01e-9 SMART
low complexity region 662 673 N/A INTRINSIC
low complexity region 727 763 N/A INTRINSIC
coiled coil region 830 879 N/A INTRINSIC
coiled coil region 949 979 N/A INTRINSIC
coiled coil region 1037 1090 N/A INTRINSIC
low complexity region 1116 1126 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159955
AA Change: V275A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639
AA Change: V275A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LamNT 20 248 7.63e-84 SMART
EGF_Lam 250 310 1.67e-7 SMART
EGF_Lam 313 373 1.14e-9 SMART
EGF_Lam 376 425 5.56e-13 SMART
EGF_Lam 428 475 6.05e-14 SMART
EGF_Lam 478 528 5e-6 SMART
EGF_Lam 531 575 3.01e-9 SMART
low complexity region 662 673 N/A INTRINSIC
low complexity region 727 763 N/A INTRINSIC
coiled coil region 830 879 N/A INTRINSIC
coiled coil region 949 979 N/A INTRINSIC
coiled coil region 1037 1090 N/A INTRINSIC
low complexity region 1116 1126 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161526
Predicted Effect probably benign
Transcript: ENSMUST00000192322
SMART Domains Protein: ENSMUSP00000141302
Gene: ENSMUSG00000026639

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LamNT 20 244 2.9e-80 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194677
AA Change: V275A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639
AA Change: V275A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LamNT 20 248 7.63e-84 SMART
EGF_Lam 250 310 1.67e-7 SMART
EGF_Lam 313 373 1.14e-9 SMART
EGF_Lam 376 425 5.56e-13 SMART
EGF_Lam 428 475 6.05e-14 SMART
EGF_Lam 478 528 5e-6 SMART
EGF_Lam 531 575 3.01e-9 SMART
low complexity region 662 673 N/A INTRINSIC
low complexity region 727 763 N/A INTRINSIC
coiled coil region 830 879 N/A INTRINSIC
coiled coil region 949 979 N/A INTRINSIC
coiled coil region 1037 1090 N/A INTRINSIC
low complexity region 1116 1126 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous intracisternal A particle sequence insertion exhibit blistering of the skin and mucosal surfaces with abnormal hemidesmosomes. Mutants die neonatally, usually without feeding. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T A 1: 159,903,003 (GRCm39) M91K probably benign Het
Abr T C 11: 76,346,474 (GRCm39) R437G probably damaging Het
Acaca T G 11: 84,167,362 (GRCm39) D1045E probably benign Het
Adam23 A T 1: 63,573,521 (GRCm39) probably null Het
Adam34 A G 8: 44,105,538 (GRCm39) Y36H probably benign Het
Alg11 G A 8: 22,555,309 (GRCm39) G108D probably damaging Het
Alox12e A T 11: 70,210,771 (GRCm39) I316N probably damaging Het
Arid1a A T 4: 133,408,677 (GRCm39) F1943L unknown Het
Armh4 T C 14: 49,989,028 (GRCm39) D647G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
BC035044 T C 6: 128,867,867 (GRCm39) probably benign Het
Bcor G A X: 11,923,862 (GRCm39) A578V possibly damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Ccnf A T 17: 24,449,288 (GRCm39) probably null Het
Cdadc1 A G 14: 59,835,202 (GRCm39) probably null Het
Cep57l1 A G 10: 41,616,895 (GRCm39) Y131H probably damaging Het
Cfap251 T C 5: 123,394,254 (GRCm39) V381A probably benign Het
Cfap44 A G 16: 44,272,047 (GRCm39) R1267G probably benign Het
Chd3 A T 11: 69,239,854 (GRCm39) L1658Q probably benign Het
Chl1 T C 6: 103,692,362 (GRCm39) probably null Het
Chpf2 T A 5: 24,797,033 (GRCm39) F660I probably damaging Het
Cmas T A 6: 142,717,015 (GRCm39) D302E probably benign Het
Cpne3 T A 4: 19,536,562 (GRCm39) M233L probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dennd3 T G 15: 73,395,336 (GRCm39) L143R probably damaging Het
Dnah2 T C 11: 69,406,587 (GRCm39) M552V probably benign Het
Dock2 A G 11: 34,179,472 (GRCm39) probably null Het
Ergic1 A G 17: 26,855,024 (GRCm39) probably null Het
Fbxl15 A T 19: 46,317,627 (GRCm39) D103V probably damaging Het
Gm4781 C A 10: 100,232,414 (GRCm39) noncoding transcript Het
Hpca A G 4: 129,012,278 (GRCm39) I86T possibly damaging Het
Katnip T A 7: 125,464,492 (GRCm39) H1286Q probably damaging Het
Lipe G T 7: 25,087,946 (GRCm39) A38E probably benign Het
Lrrk1 A T 7: 65,935,159 (GRCm39) probably null Het
Lrsam1 T C 2: 32,835,891 (GRCm39) K292R probably damaging Het
Mbtps1 A T 8: 120,265,598 (GRCm39) H316Q probably benign Het
Mms22l T A 4: 24,580,063 (GRCm39) Y525* probably null Het
Mrps14 T C 1: 160,022,862 (GRCm39) L9P possibly damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myo15a A G 11: 60,401,055 (GRCm39) D2992G possibly damaging Het
N4bp2 T A 5: 65,966,543 (GRCm39) L1327Q probably damaging Het
Nradd A T 9: 110,451,243 (GRCm39) F42I probably benign Het
Or5k8 T A 16: 58,644,842 (GRCm39) I77F probably damaging Het
Pank1 T C 19: 34,804,754 (GRCm39) H134R probably benign Het
Pcdh7 T A 5: 58,286,458 (GRCm39) M1178K possibly damaging Het
Pcnx3 A T 19: 5,717,633 (GRCm39) I1084N probably damaging Het
Pdcd11 A G 19: 47,093,191 (GRCm39) M490V probably benign Het
Phf2 T C 13: 48,958,165 (GRCm39) K950E unknown Het
Pitpnc1 C T 11: 107,103,344 (GRCm39) A252T probably damaging Het
Prickle2 A G 6: 92,402,652 (GRCm39) L112P probably damaging Het
Prpf8 A G 11: 75,381,357 (GRCm39) I231V probably benign Het
Scin T A 12: 40,130,984 (GRCm39) M310L probably benign Het
Serpina3m T A 12: 104,355,483 (GRCm39) I50N probably benign Het
Skint8 C G 4: 111,794,274 (GRCm39) N221K probably damaging Het
Slc22a23 C T 13: 34,366,990 (GRCm39) V673M probably benign Het
Slc24a5 A G 2: 124,929,361 (GRCm39) D368G probably damaging Het
Slc28a1 A T 7: 80,776,015 (GRCm39) Q237L possibly damaging Het
Smchd1 T A 17: 71,705,583 (GRCm39) K1005N possibly damaging Het
Stim2 T C 5: 54,262,717 (GRCm39) Y320H probably damaging Het
Syne3 T A 12: 104,919,357 (GRCm39) D512V probably damaging Het
Tada2a T C 11: 83,970,455 (GRCm39) D432G probably damaging Het
Tcp10a T C 17: 7,601,701 (GRCm39) S216P probably damaging Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Tmem236 A G 2: 14,223,861 (GRCm39) I217V probably benign Het
Tmem45b A G 9: 31,340,277 (GRCm39) V128A probably benign Het
Tnfaip2 T C 12: 111,412,456 (GRCm39) Y286H probably damaging Het
Tsc2 T A 17: 24,840,116 (GRCm39) I427L possibly damaging Het
Ttc17 T A 2: 94,132,139 (GRCm39) N1180I possibly damaging Het
Ubr1 T G 2: 120,694,811 (GRCm39) D1707A probably damaging Het
Vmn1r11 A G 6: 57,114,583 (GRCm39) I82M probably benign Het
Vmn2r129 T C 4: 156,687,014 (GRCm39) noncoding transcript Het
Vps41 G T 13: 19,023,904 (GRCm39) probably null Het
Wnt5a A G 14: 28,235,274 (GRCm39) Y86C probably damaging Het
Zfp629 T C 7: 127,209,616 (GRCm39) H731R probably damaging Het
Zfp712 T C 13: 67,189,960 (GRCm39) E189G possibly damaging Het
Other mutations in Lamb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Lamb3 APN 1 193,002,755 (GRCm39) missense probably damaging 1.00
IGL00898:Lamb3 APN 1 193,021,191 (GRCm39) missense possibly damaging 0.81
IGL01599:Lamb3 APN 1 193,025,720 (GRCm39) missense probably benign
IGL02108:Lamb3 APN 1 193,014,530 (GRCm39) missense probably damaging 1.00
IGL02218:Lamb3 APN 1 193,010,941 (GRCm39) critical splice acceptor site probably null
IGL02437:Lamb3 APN 1 193,010,253 (GRCm39) missense probably damaging 1.00
IGL02659:Lamb3 APN 1 193,014,469 (GRCm39) missense probably damaging 1.00
IGL02677:Lamb3 APN 1 193,021,830 (GRCm39) missense probably benign 0.01
IGL02815:Lamb3 APN 1 193,007,863 (GRCm39) splice site probably benign
G1patch:Lamb3 UTSW 1 192,986,890 (GRCm39) missense probably benign 0.05
R0238:Lamb3 UTSW 1 193,003,361 (GRCm39) missense probably damaging 1.00
R0238:Lamb3 UTSW 1 193,003,361 (GRCm39) missense probably damaging 1.00
R0239:Lamb3 UTSW 1 193,003,361 (GRCm39) missense probably damaging 1.00
R0239:Lamb3 UTSW 1 193,003,361 (GRCm39) missense probably damaging 1.00
R0240:Lamb3 UTSW 1 193,017,335 (GRCm39) missense probably damaging 1.00
R0240:Lamb3 UTSW 1 193,017,335 (GRCm39) missense probably damaging 1.00
R0265:Lamb3 UTSW 1 193,002,839 (GRCm39) missense probably damaging 1.00
R0455:Lamb3 UTSW 1 193,025,700 (GRCm39) missense probably damaging 0.99
R0647:Lamb3 UTSW 1 193,013,104 (GRCm39) missense probably damaging 0.99
R0669:Lamb3 UTSW 1 193,014,638 (GRCm39) missense probably damaging 1.00
R0826:Lamb3 UTSW 1 193,013,216 (GRCm39) nonsense probably null
R1552:Lamb3 UTSW 1 193,013,067 (GRCm39) splice site probably null
R1560:Lamb3 UTSW 1 193,021,710 (GRCm39) missense probably benign 0.05
R1593:Lamb3 UTSW 1 193,013,104 (GRCm39) missense probably damaging 0.99
R1599:Lamb3 UTSW 1 193,002,801 (GRCm39) missense probably damaging 1.00
R1831:Lamb3 UTSW 1 193,017,187 (GRCm39) missense probably damaging 0.99
R1848:Lamb3 UTSW 1 193,016,924 (GRCm39) missense possibly damaging 0.96
R2117:Lamb3 UTSW 1 193,016,489 (GRCm39) missense probably benign 0.00
R2148:Lamb3 UTSW 1 193,010,212 (GRCm39) missense probably benign 0.00
R2879:Lamb3 UTSW 1 193,013,092 (GRCm39) missense possibly damaging 0.67
R3019:Lamb3 UTSW 1 193,013,717 (GRCm39) critical splice donor site probably null
R4380:Lamb3 UTSW 1 193,013,683 (GRCm39) missense probably benign 0.10
R4648:Lamb3 UTSW 1 193,013,665 (GRCm39) missense probably damaging 0.99
R4758:Lamb3 UTSW 1 193,022,269 (GRCm39) missense possibly damaging 0.65
R4790:Lamb3 UTSW 1 193,022,194 (GRCm39) missense probably damaging 1.00
R4895:Lamb3 UTSW 1 193,014,622 (GRCm39) nonsense probably null
R5316:Lamb3 UTSW 1 193,012,501 (GRCm39) missense probably benign 0.00
R5457:Lamb3 UTSW 1 193,008,302 (GRCm39) missense probably damaging 1.00
R5952:Lamb3 UTSW 1 193,014,670 (GRCm39) missense probably benign 0.04
R5965:Lamb3 UTSW 1 193,025,768 (GRCm39) missense probably damaging 1.00
R6334:Lamb3 UTSW 1 193,017,782 (GRCm39) missense probably damaging 0.96
R6522:Lamb3 UTSW 1 193,017,761 (GRCm39) missense probably benign 0.01
R6725:Lamb3 UTSW 1 192,986,890 (GRCm39) missense probably benign 0.05
R6791:Lamb3 UTSW 1 193,017,169 (GRCm39) missense possibly damaging 0.93
R6828:Lamb3 UTSW 1 193,017,756 (GRCm39) missense probably benign 0.00
R7143:Lamb3 UTSW 1 192,986,873 (GRCm39) missense probably damaging 1.00
R7329:Lamb3 UTSW 1 193,002,848 (GRCm39) missense possibly damaging 0.89
R7439:Lamb3 UTSW 1 193,014,474 (GRCm39) missense possibly damaging 0.80
R7556:Lamb3 UTSW 1 193,014,757 (GRCm39) missense probably benign
R8051:Lamb3 UTSW 1 193,012,375 (GRCm39) missense possibly damaging 0.80
R8220:Lamb3 UTSW 1 193,016,556 (GRCm39) missense probably damaging 1.00
R8719:Lamb3 UTSW 1 193,006,099 (GRCm39) missense probably damaging 1.00
R8878:Lamb3 UTSW 1 193,013,124 (GRCm39) missense probably damaging 1.00
R8880:Lamb3 UTSW 1 193,003,363 (GRCm39) missense possibly damaging 0.74
R8885:Lamb3 UTSW 1 193,017,182 (GRCm39) missense probably benign 0.04
R8893:Lamb3 UTSW 1 193,014,644 (GRCm39) missense probably damaging 1.00
R8934:Lamb3 UTSW 1 193,021,168 (GRCm39) missense probably damaging 1.00
R8944:Lamb3 UTSW 1 193,014,525 (GRCm39) nonsense probably null
R9043:Lamb3 UTSW 1 193,007,919 (GRCm39) nonsense probably null
R9219:Lamb3 UTSW 1 193,010,232 (GRCm39) missense probably damaging 1.00
R9329:Lamb3 UTSW 1 193,014,665 (GRCm39) missense probably benign 0.28
R9402:Lamb3 UTSW 1 193,013,704 (GRCm39) missense
R9415:Lamb3 UTSW 1 193,008,319 (GRCm39) missense probably benign 0.13
R9555:Lamb3 UTSW 1 193,011,113 (GRCm39) missense possibly damaging 0.67
X0066:Lamb3 UTSW 1 193,021,722 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGCCATCACAGTGTTACAGGAAC -3'
(R):5'- AGCAGATTCCCAGTGTTCCAG -3'

Sequencing Primer
(F):5'- CTGGGTGAAGGCTGAAGCATTTAG -3'
(R):5'- GATTCCCAGTGTTCCAGGTAAACAG -3'
Posted On 2014-10-01