Incidental Mutation 'R8220:Lamb3'
ID 636594
Institutional Source Beutler Lab
Gene Symbol Lamb3
Ensembl Gene ENSMUSG00000026639
Gene Name laminin, beta 3
Synonyms nicein, 125kDa
MMRRC Submission 067638-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.666) question?
Stock # R8220 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 192976661-193026186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 193016556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 679 (L679Q)
Ref Sequence ENSEMBL: ENSMUSP00000016315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016315] [ENSMUST00000159955] [ENSMUST00000194677]
AlphaFold Q61087
Predicted Effect probably damaging
Transcript: ENSMUST00000016315
AA Change: L679Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639
AA Change: L679Q

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: L679Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639
AA Change: L679Q

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: L679Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639
AA Change: L679Q

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: 99.1%
Validation Efficiency 100% (78/78)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A T 16: 88,570,723 (GRCm39) C106S probably damaging Het
Abca13 C T 11: 9,384,299 (GRCm39) T3917M possibly damaging Het
Abcb8 T C 5: 24,611,783 (GRCm39) I533T possibly damaging Het
Becn1 C T 11: 101,187,105 (GRCm39) R78Q possibly damaging Het
Bhlha9 T C 11: 76,563,703 (GRCm39) I110T probably damaging Het
Cemip T C 7: 83,596,368 (GRCm39) D1132G probably damaging Het
Cyth3 T A 5: 143,687,344 (GRCm39) probably null Het
Dcpp2 A G 17: 24,119,666 (GRCm39) E160G possibly damaging Het
Dock10 C T 1: 80,506,366 (GRCm39) G1726S probably null Het
Dsel T C 1: 111,789,437 (GRCm39) D366G probably damaging Het
Ednrb A T 14: 104,059,141 (GRCm39) L295Q probably damaging Het
Etaa1 C T 11: 17,895,690 (GRCm39) R809K probably benign Het
Fahd1 A G 17: 25,068,864 (GRCm39) L71P probably damaging Het
Fat1 A G 8: 45,492,993 (GRCm39) E3882G probably null Het
Frem2 A T 3: 53,563,928 (GRCm39) L193* probably null Het
Gba2 T G 4: 43,568,510 (GRCm39) D652A probably damaging Het
Gm5460 C T 14: 33,767,876 (GRCm39) P220S probably damaging Het
Gm7137 A T 10: 77,623,785 (GRCm39) C84S unknown Het
Gm8122 G T 14: 43,090,174 (GRCm39) probably null Het
H1f4 T C 13: 23,805,922 (GRCm39) S187G probably benign Het
Hyal5 A T 6: 24,876,879 (GRCm39) I251L probably benign Het
Igf2r A T 17: 12,910,958 (GRCm39) S1953R probably benign Het
Igkc C A 6: 70,703,666 (GRCm39) N82K Het
Il18 T A 9: 50,486,616 (GRCm39) M15K possibly damaging Het
Insr T A 8: 3,208,702 (GRCm39) E1253V probably benign Het
Itgax A G 7: 127,730,090 (GRCm39) Q82R probably benign Het
Kcnn3 A G 3: 89,568,548 (GRCm39) I609V probably benign Het
Klk14 A G 7: 43,343,498 (GRCm39) D110G probably damaging Het
Lgsn C T 1: 31,235,881 (GRCm39) A115V probably benign Het
Lipt1 C T 1: 37,914,706 (GRCm39) T254M probably damaging Het
Lrrc3b T C 14: 15,358,004 (GRCm38) T201A probably damaging Het
Lrrc49 T A 9: 60,517,613 (GRCm39) D432V probably benign Het
Meltf A G 16: 31,706,233 (GRCm39) N239S probably benign Het
Mki67 G A 7: 135,299,850 (GRCm39) A1728V probably benign Het
Mms22l T A 4: 24,536,375 (GRCm39) L615I probably damaging Het
Mtcl3 C T 10: 29,023,264 (GRCm39) Q204* probably null Het
Mttp C A 3: 137,829,609 (GRCm39) G93V probably benign Het
Muc4 A T 16: 32,575,701 (GRCm39) T1734S unknown Het
Myh9 C T 15: 77,648,747 (GRCm39) R1703Q possibly damaging Het
N4bp1 T C 8: 87,571,315 (GRCm39) *894W probably null Het
Nab2 C A 10: 127,498,645 (GRCm39) V475L probably benign Het
Nup43 C T 10: 7,552,097 (GRCm39) A295V probably benign Het
Or1af1 T C 2: 37,109,791 (GRCm39) C97R probably benign Het
Or4b12 T C 2: 90,096,387 (GRCm39) H129R probably benign Het
Or7g32 G T 9: 19,408,317 (GRCm39) S91I probably damaging Het
Or8k3 C T 2: 86,059,309 (GRCm39) G2E probably benign Het
Or9m2 C T 2: 87,820,496 (GRCm39) L14F probably damaging Het
Pcdha11 A G 18: 37,139,624 (GRCm39) T418A probably benign Het
Pdzd2 T C 15: 12,592,249 (GRCm39) K132E probably damaging Het
Pira13 T C 7: 3,825,903 (GRCm39) E322G unknown Het
Plec C T 15: 76,062,497 (GRCm39) R2480H possibly damaging Het
Plscr2 G A 9: 92,177,713 (GRCm39) G293D probably damaging Het
Prr23a4 A G 9: 98,785,581 (GRCm39) D82G probably benign Het
Ptchd4 A G 17: 42,813,554 (GRCm39) H485R probably benign Het
Rbbp9 A T 2: 144,389,986 (GRCm39) M59K probably null Het
Rest G A 5: 77,430,325 (GRCm39) A915T probably benign Het
Rhbdf1 C T 11: 32,164,563 (GRCm39) A168T probably benign Het
Scamp2 A T 9: 57,484,953 (GRCm39) Q53L probably benign Het
Scn2a T C 2: 65,520,620 (GRCm39) F539L probably benign Het
Sdr16c6 A T 4: 4,076,872 (GRCm39) I9N probably benign Het
Slc23a3 T A 1: 75,110,511 (GRCm39) probably benign Het
Slc6a19 A G 13: 73,833,889 (GRCm39) S390P probably damaging Het
Snx11 C T 11: 96,661,885 (GRCm39) R99Q probably damaging Het
Suclg2 T A 6: 95,565,927 (GRCm39) I189F possibly damaging Het
Tedc1 T C 12: 113,120,375 (GRCm39) probably null Het
Timeless A T 10: 128,082,265 (GRCm39) R598W probably damaging Het
Tm9sf3 A T 19: 41,203,526 (GRCm39) N583K possibly damaging Het
Tox3 A G 8: 90,984,708 (GRCm39) V157A probably damaging Het
Tpr G T 1: 150,308,164 (GRCm39) V1640L probably benign Het
Trav7-4 C T 14: 53,699,102 (GRCm39) A83V probably benign Het
Trdn A G 10: 33,326,981 (GRCm39) K590R possibly damaging Het
Trim11 T C 11: 58,881,220 (GRCm39) L371P probably damaging Het
Trim5 T A 7: 103,926,033 (GRCm39) Q176L probably damaging Het
Tubgcp2 T C 7: 139,586,053 (GRCm39) H412R possibly damaging Het
Ugt2b35 T A 5: 87,149,302 (GRCm39) S184R probably damaging Het
Ush2a T A 1: 188,460,863 (GRCm39) V2708E probably damaging Het
Vmn1r87 T A 7: 12,865,427 (GRCm39) T287S possibly damaging Het
Zbtb7a A G 10: 80,980,838 (GRCm39) D344G probably damaging Het
Zfp560 G T 9: 20,260,348 (GRCm39) N171K probably benign Het
Zfp579 A T 7: 4,996,850 (GRCm39) C354S 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
R7556:Lamb3 UTSW 1 193,014,757 (GRCm39) missense probably benign
R8051:Lamb3 UTSW 1 193,012,375 (GRCm39) missense possibly damaging 0.80
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'- TGCTCAGCACCATGTGGATC -3'
(R):5'- AGAACTGTCAGACACTTGCTG -3'

Sequencing Primer
(F):5'- AGCACCATGTGGATCGTTCC -3'
(R):5'- GCTCATAAGCCATGGTCAGCATG -3'
Posted On 2020-07-13