Incidental Mutation 'R1831:Lamb3'
ID 207298
Institutional Source Beutler Lab
Gene Symbol Lamb3
Ensembl Gene ENSMUSG00000026639
Gene Name laminin, beta 3
Synonyms nicein, 125kDa
MMRRC Submission 039858-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.666) question?
Stock # R1831 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 192976661-193026186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 193017187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 793 (T793A)
Ref Sequence ENSEMBL: ENSMUSP00000142053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016315] [ENSMUST00000159955] [ENSMUST00000194677]
AlphaFold Q61087
Predicted Effect probably damaging
Transcript: ENSMUST00000016315
AA Change: T793A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639
AA Change: T793A

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 damaging
Transcript: ENSMUST00000159955
AA Change: T793A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639
AA Change: T793A

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 damaging
Transcript: ENSMUST00000194677
AA Change: T793A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639
AA Change: T793A

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.2%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,627,255 (GRCm39) D77G probably damaging Het
Adam1b A G 5: 121,641,000 (GRCm39) I15T possibly damaging Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Capn8 G A 1: 182,438,666 (GRCm39) probably null Het
Carmil1 A T 13: 24,348,862 (GRCm39) V15E probably benign Het
Ccdc42 T A 11: 68,481,805 (GRCm39) M133K probably benign Het
Cd5 T C 19: 10,696,933 (GRCm39) D485G probably damaging Het
Cdhr18 A G 14: 13,899,619 (GRCm38) I101T probably damaging Het
Cep104 T A 4: 154,087,003 (GRCm39) V842E probably benign Het
Cep162 T A 9: 87,088,985 (GRCm39) I966L probably damaging Het
Cklf T C 8: 104,977,687 (GRCm39) F13S probably damaging Het
Csf2rb C T 15: 78,232,453 (GRCm39) P587S probably benign Het
Cyp21a1 A T 17: 35,023,009 (GRCm39) probably benign Het
Cyp26a1 A T 19: 37,689,071 (GRCm39) L335F probably damaging Het
Dcst1 A G 3: 89,260,057 (GRCm39) F596L probably damaging Het
Dennd6a T A 14: 26,328,109 (GRCm39) L44H probably damaging Het
Dnah6 G A 6: 73,158,780 (GRCm39) R608C possibly damaging Het
Dnajb5 A T 4: 42,957,333 (GRCm39) T311S probably benign Het
Dthd1 A G 5: 62,984,572 (GRCm39) T426A probably benign Het
Dync1h1 A G 12: 110,580,493 (GRCm39) K118R probably damaging Het
Efemp1 A T 11: 28,871,442 (GRCm39) D347V possibly damaging Het
Ephb4 T A 5: 137,352,677 (GRCm39) Y87N probably damaging Het
Ern1 A T 11: 106,290,668 (GRCm39) probably null Het
Fam184a A T 10: 53,523,180 (GRCm39) D164E probably damaging Het
Fkbp10 A G 11: 100,314,045 (GRCm39) E351G probably damaging Het
Fmn2 A G 1: 174,437,511 (GRCm39) S1161G probably benign Het
Frem1 A G 4: 82,939,074 (GRCm39) S3P possibly damaging Het
Gpr3 C T 4: 132,938,454 (GRCm39) A73T possibly damaging Het
Gprc6a T C 10: 51,491,902 (GRCm39) T616A probably benign Het
Gtf3c2 G T 5: 31,325,713 (GRCm39) Q452K probably damaging Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Hacd2 T C 16: 34,922,434 (GRCm39) Y208H probably damaging Het
Hid1 C T 11: 115,239,729 (GRCm39) G734R probably damaging Het
Ifi207 A G 1: 173,559,992 (GRCm39) I160T unknown Het
Itga11 T A 9: 62,689,300 (GRCm39) L1155Q probably damaging Het
Kmt2d A G 15: 98,753,224 (GRCm39) S157P probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc66 G A 5: 73,764,769 (GRCm39) S758L possibly damaging Het
Ltn1 C T 16: 87,197,034 (GRCm39) S1213N possibly damaging Het
Meak7 T C 8: 120,497,992 (GRCm39) M171V probably null Het
Med1 T C 11: 98,047,437 (GRCm39) probably benign Het
Megf6 C T 4: 154,355,134 (GRCm39) T1483M probably benign Het
Micall2 A G 5: 139,702,508 (GRCm39) V245A probably benign Het
Mipep T G 14: 61,109,512 (GRCm39) Y630D probably damaging Het
Ndst3 T A 3: 123,395,127 (GRCm39) H501L probably benign Het
Nek10 A T 14: 14,842,789 (GRCm38) M165L probably benign Het
Nmbr C A 10: 14,642,609 (GRCm39) T56K probably benign Het
Nxpe2 T A 9: 48,237,452 (GRCm39) M268L probably benign Het
Oasl2 A G 5: 115,039,367 (GRCm39) Y185C probably benign Het
Ogdhl T A 14: 32,059,484 (GRCm39) V377E probably damaging Het
Or11g1 T A 14: 50,651,658 (GRCm39) probably null Het
Or14j4 G A 17: 37,920,730 (GRCm39) S304L possibly damaging Het
Ovgp1 A G 3: 105,892,384 (GRCm39) R346G probably benign Het
Parp14 T A 16: 35,678,958 (GRCm39) N337Y possibly damaging Het
Pask A C 1: 93,248,491 (GRCm39) probably null Het
Pax3 G T 1: 78,108,977 (GRCm39) T227K probably damaging Het
Pik3r6 T A 11: 68,434,860 (GRCm39) M594K probably benign Het
Pms1 A G 1: 53,246,370 (GRCm39) F390L probably benign Het
Polg G A 7: 79,109,518 (GRCm39) T433I probably benign Het
Prex1 T C 2: 166,427,021 (GRCm39) Y898C probably damaging Het
Ranbp2 T A 10: 58,315,044 (GRCm39) C1921* probably null Het
Rif1 T A 2: 51,968,507 (GRCm39) L230* probably null Het
Rnf148 A G 6: 23,654,772 (GRCm39) F75L probably damaging Het
Rps18-ps6 A G 13: 97,897,053 (GRCm39) V15A probably benign Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sirt1 T C 10: 63,156,425 (GRCm39) D735G probably benign Het
Spag5 T A 11: 78,205,082 (GRCm39) N622K probably benign Het
Sspo T G 6: 48,466,720 (GRCm39) C3935W probably damaging Het
Strbp A G 2: 37,515,277 (GRCm39) S250P possibly damaging Het
Tgfbr2 T C 9: 115,919,604 (GRCm39) T541A possibly damaging Het
Thada A C 17: 84,538,542 (GRCm39) S1489A probably damaging Het
Tiam1 A T 16: 89,657,182 (GRCm39) S685T probably benign Het
Tpsb2 T A 17: 25,585,494 (GRCm39) probably null Het
Trip4 C A 9: 65,765,622 (GRCm39) G359V probably damaging Het
Tsr1 T C 11: 74,791,182 (GRCm39) F254L probably benign Het
Vmn1r120 T C 7: 20,787,556 (GRCm39) K52E probably benign Het
Vmn1r29 C A 6: 58,284,692 (GRCm39) Y137* probably null Het
Vmn2r52 T C 7: 9,893,415 (GRCm39) K575E probably damaging Het
Wdr95 A G 5: 149,475,891 (GRCm39) Y63C probably 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
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
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'- AAGCCCTCACACCTGTAATCTG -3'
(R):5'- CATACTCTGTGGCACCTACC -3'

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