Incidental Mutation 'R7556:Lamb3'
ID 584746
Institutional Source Beutler Lab
Gene Symbol Lamb3
Ensembl Gene ENSMUSG00000026639
Gene Name laminin, beta 3
Synonyms nicein, 125kDa
MMRRC Submission 045624-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.666) question?
Stock # R7556 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 192976661-193026186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 193014757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 639 (S639P)
Ref Sequence ENSEMBL: ENSMUSP00000016315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016315] [ENSMUST00000159955] [ENSMUST00000194677]
AlphaFold Q61087
Predicted Effect probably benign
Transcript: ENSMUST00000016315
AA Change: S639P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639
AA Change: S639P

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: S639P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639
AA Change: S639P

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: ENSMUST00000194677
AA Change: S639P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639
AA Change: S639P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik C T 9: 46,221,611 (GRCm39) W11* probably null Het
A2ml1 A G 6: 128,546,927 (GRCm39) S401P probably damaging Het
Adamtsl1 T A 4: 86,195,358 (GRCm39) Y592N probably benign Het
Adh6b C T 3: 138,058,546 (GRCm39) T76I probably damaging Het
Aebp2 C A 6: 140,623,137 (GRCm39) P503Q probably benign Het
Ankrd2 A G 19: 42,028,839 (GRCm39) D134G Het
Atf7ip T C 6: 136,538,239 (GRCm39) S491P probably damaging Het
Atp1a3 T C 7: 24,680,991 (GRCm39) D832G probably benign Het
Atrnl1 G A 19: 57,643,278 (GRCm39) V389I probably benign Het
Bahcc1 T C 11: 120,178,589 (GRCm39) S2383P probably damaging Het
Brd9 A G 13: 74,092,886 (GRCm39) D292G possibly damaging Het
Cacna1e G T 1: 154,348,419 (GRCm39) Q781K probably benign Het
Ccdc9 T C 7: 16,018,491 (GRCm39) probably benign Het
Cdc42ep4 C G 11: 113,619,366 (GRCm39) E342Q probably damaging Het
Celf3 C T 3: 94,387,590 (GRCm39) T54M probably damaging Het
Cenpn T C 8: 117,664,008 (GRCm39) Y267H probably damaging Het
Chrnb4 T C 9: 54,942,339 (GRCm39) T312A probably benign Het
Clcn3 T A 8: 61,382,521 (GRCm39) T383S probably damaging Het
Cln3 T C 7: 126,174,242 (GRCm39) Q327R probably damaging Het
Cnep1r1 T C 8: 88,851,761 (GRCm39) L50P probably damaging Het
Cnot6 T C 11: 49,566,144 (GRCm39) N512S probably benign Het
Col7a1 T A 9: 108,811,533 (GRCm39) probably null Het
Cryba4 C T 5: 112,398,969 (GRCm39) R25Q probably damaging Het
Dnah5 A G 15: 28,290,389 (GRCm39) I1260V probably null Het
Dock2 G T 11: 34,611,778 (GRCm39) T195K probably benign Het
Dpp9 A T 17: 56,497,012 (GRCm39) I740N possibly damaging Het
Fbxl21 A T 13: 56,674,741 (GRCm39) N31Y probably benign Het
Frat1 G A 19: 41,818,959 (GRCm39) R118Q possibly damaging Het
Gna11 A G 10: 81,367,208 (GRCm39) F228S Het
Golgb1 A T 16: 36,736,155 (GRCm39) M1842L probably benign Het
Got1 A T 19: 43,491,469 (GRCm39) M327K probably damaging Het
H4c9 A G 13: 22,225,414 (GRCm39) I27T probably damaging Het
Hexa T A 9: 59,470,582 (GRCm39) L468Q probably damaging Het
Ift57 G A 16: 49,526,491 (GRCm39) V178I probably benign Het
Kbtbd13 T C 9: 65,298,757 (GRCm39) T60A probably benign Het
Klk1b5 A G 7: 43,496,649 (GRCm39) T194A probably damaging Het
Krtap16-3 C A 16: 88,759,666 (GRCm39) G16C unknown Het
Mapt C A 11: 104,189,528 (GRCm39) P182Q probably benign Het
Mcf2l A G 8: 13,023,071 (GRCm39) T86A probably damaging Het
Mecom G T 3: 30,041,220 (GRCm39) H125N probably benign Het
Med18 T C 4: 132,187,247 (GRCm39) H84R probably benign Het
Muc2 A G 7: 141,307,439 (GRCm39) Y798C Het
Mycbp T C 4: 123,799,060 (GRCm39) Y17H probably damaging Het
Nacad C T 11: 6,551,272 (GRCm39) V640M possibly damaging Het
Ncoa1 C T 12: 4,320,794 (GRCm39) V1092I probably damaging Het
Nomo1 A G 7: 45,715,642 (GRCm39) E696G probably damaging Het
Notch4 G A 17: 34,794,444 (GRCm39) C741Y probably damaging Het
Or10g7 A G 9: 39,905,978 (GRCm39) N291D probably damaging Het
Or6d12 C T 6: 116,493,697 (GRCm39) Q320* probably null Het
Osbpl10 C A 9: 115,036,692 (GRCm39) H229Q probably damaging Het
Pif1 A T 9: 65,496,993 (GRCm39) probably null Het
Plk2 T G 13: 110,533,122 (GRCm39) probably null Het
Ppp1r42 T C 1: 10,065,408 (GRCm39) H172R probably benign Het
Ring1 A G 17: 34,240,688 (GRCm39) I363T possibly damaging Het
Rnf168 T G 16: 32,117,863 (GRCm39) Y475D probably damaging Het
Sbf2 T A 7: 109,913,260 (GRCm39) K1671N probably benign Het
Sema6d A G 2: 124,496,109 (GRCm39) N51S probably damaging Het
Setx C A 2: 29,036,505 (GRCm39) Q997K possibly damaging Het
Skint5 T G 4: 113,425,162 (GRCm39) Q1088P unknown Het
Slc22a27 T C 19: 7,843,119 (GRCm39) D528G probably damaging Het
Slc6a7 T A 18: 61,140,514 (GRCm39) K173* probably null Het
Smc2 T C 4: 52,457,379 (GRCm39) F380L probably benign Het
Spata31d1a T C 13: 59,849,798 (GRCm39) M777V probably benign Het
Stkld1 A T 2: 26,837,307 (GRCm39) N319I possibly damaging Het
Tanc2 T C 11: 105,799,857 (GRCm39) V93A Het
Tbx20 T C 9: 24,661,573 (GRCm39) probably null Het
Trbv20 G A 6: 41,165,715 (GRCm39) V47I probably benign Het
Trip4 A T 9: 65,782,155 (GRCm39) C192* probably null Het
Tsbp1 A T 17: 34,656,691 (GRCm39) I103F unknown Het
Tulp2 A G 7: 45,168,005 (GRCm39) probably null Het
Ush2a C A 1: 188,689,690 (GRCm39) P5084Q probably benign Het
Virma T C 4: 11,518,927 (GRCm39) Y675H probably damaging Het
Vmn2r102 T A 17: 19,898,093 (GRCm39) N369K probably benign Het
Vmn2r59 A T 7: 41,695,233 (GRCm39) M393K probably damaging Het
Vmn2r69 GAAAA GAAAAA 7: 85,060,768 (GRCm39) probably null Het
Xpot A G 10: 121,449,411 (GRCm39) S30P probably benign Het
Zfp947 T C 17: 22,364,597 (GRCm39) Y359C probably benign 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
R2147:Lamb3 UTSW 1 193,010,212 (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
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'- CTTCCAGGCCTATGACACAG -3'
(R):5'- TGTCTCCACATCTGCAGAATGG -3'

Sequencing Primer
(F):5'- TATGACACAGACCTCCAGGAG -3'
(R):5'- TCACAGACATGCCTTGGTAG -3'
Posted On 2019-10-17