Incidental Mutation 'R3053:Lama5'
ID 265022
Institutional Source Beutler Lab
Gene Symbol Lama5
Ensembl Gene ENSMUSG00000015647
Gene Name laminin, alpha 5
Synonyms
MMRRC Submission 040562-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3053 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 179818166-179867652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 179824860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 2519 (R2519K)
Ref Sequence ENSEMBL: ENSMUSP00000015791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015791]
AlphaFold no structure available at present
PDB Structure LAMININ ALPHA5 CHAIN N-TERMINAL FRAGMENT [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000015791
AA Change: R2519K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000015791
Gene: ENSMUSG00000015647
AA Change: R2519K

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
LamNT 44 303 1.06e-132 SMART
EGF_Lam 305 361 4.35e-6 SMART
EGF_Lam 364 431 5.78e-11 SMART
EGF_Lam 434 476 1.32e-5 SMART
EGF_Lam 500 544 8.63e-10 SMART
EGF_Lam 547 590 1.16e-10 SMART
EGF_Lam 593 635 4.63e-10 SMART
EGF_Lam 638 680 6.25e-7 SMART
EGF_Lam 683 726 3.1e-11 SMART
EGF_Lam 730 779 2.99e-4 SMART
EGF_Lam 782 831 4.66e-6 SMART
EGF_Lam 834 878 3.48e-5 SMART
low complexity region 1261 1273 N/A INTRINSIC
EGF_Lam 1443 1486 7.01e-10 SMART
EGF_like 1489 1530 3.64e-1 SMART
EGF_Lam 1533 1579 8.56e-14 SMART
EGF_Lam 1582 1630 1.86e-14 SMART
LamB 1689 1819 5.86e-61 SMART
EGF_like 1818 1862 2.74e0 SMART
EGF_Lam 1865 1912 3.32e-11 SMART
EGF_Lam 1915 1968 1.61e-9 SMART
EGF_Lam 1971 2022 6.39e-13 SMART
EGF_Lam 2025 2069 1.94e-12 SMART
EGF_Lam 2072 2116 1.35e-11 SMART
EGF_like 2103 2145 3.1e1 SMART
EGF_Lam 2119 2166 1.18e-2 SMART
Pfam:Laminin_I 2189 2453 1.7e-65 PFAM
low complexity region 2532 2548 N/A INTRINSIC
low complexity region 2557 2569 N/A INTRINSIC
low complexity region 2632 2641 N/A INTRINSIC
low complexity region 2663 2676 N/A INTRINSIC
LamG 2760 2912 3.97e-8 SMART
LamG 2966 3103 1.78e-10 SMART
LamG 3149 3274 1.11e-20 SMART
LamG 3359 3497 4.05e-23 SMART
LamG 3539 3670 3e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185089
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the vertebrate laminin alpha chains. 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 are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they 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. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation. [provided by MGI curators]
Allele List at MGI

All alleles(49) : Targeted(5) Gene trapped(44)

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 T C 16: 35,124,086 (GRCm39) L1255P probably damaging Het
Agl T A 3: 116,584,682 (GRCm39) I213F probably damaging Het
Arap2 A G 5: 62,906,200 (GRCm39) V273A probably benign Het
Asb18 T A 1: 89,920,707 (GRCm39) H149L probably damaging Het
Axdnd1 T C 1: 156,169,440 (GRCm39) T809A probably damaging Het
Bcl11b T C 12: 107,882,260 (GRCm39) E613G probably benign Het
Cibar1 G C 4: 12,157,767 (GRCm39) probably null Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cyp2a5 A G 7: 26,542,410 (GRCm39) I471V possibly damaging Het
Dmtf1 G T 5: 9,179,316 (GRCm39) T206K probably damaging Het
Dner G T 1: 84,361,747 (GRCm39) Q621K probably damaging Het
Gmppa A G 1: 75,418,400 (GRCm39) Y261C probably benign Het
Mical2 G T 7: 111,910,630 (GRCm39) A267S probably damaging Het
Nrxn3 A T 12: 89,221,871 (GRCm39) D550V probably damaging Het
Or1n1 T A 2: 36,749,959 (GRCm39) M134L probably benign Het
Pole A T 5: 110,437,661 (GRCm39) D73V probably damaging Het
Ppm1b G A 17: 85,321,274 (GRCm39) R472K probably benign Het
Ppm1m A G 9: 106,075,874 (GRCm39) I18T probably benign Het
Psg18 C T 7: 18,083,118 (GRCm39) G225R probably damaging Het
R3hcc1l T G 19: 42,551,064 (GRCm39) Y20* probably null Het
Rapgef1 T C 2: 29,614,868 (GRCm39) I817T probably damaging Het
Rasal3 T C 17: 32,622,413 (GRCm39) E4G probably benign Het
Ryr1 A T 7: 28,752,515 (GRCm39) V3598E probably damaging Het
Slc15a4 A T 5: 127,673,746 (GRCm39) V556E possibly damaging Het
Spats2l A G 1: 57,939,925 (GRCm39) K193R probably damaging Het
Tacc2 G A 7: 130,227,226 (GRCm39) E1323K possibly damaging Het
Tbc1d21 T A 9: 58,270,352 (GRCm39) D141V probably damaging Het
Tedc1 G T 12: 113,120,087 (GRCm39) probably benign Het
Terf2 A C 8: 107,806,016 (GRCm39) L312R possibly damaging Het
Tmem132d A C 5: 127,869,538 (GRCm39) S599A probably benign Het
Trp53bp2 T C 1: 182,281,347 (GRCm39) F983L probably damaging Het
Ubxn2a T A 12: 4,941,322 (GRCm39) K95* probably null Het
Ugt2a2 A T 5: 87,622,328 (GRCm39) N213K probably damaging Het
Xpo6 T C 7: 125,703,893 (GRCm39) N1086D probably damaging Het
Zbed5 A T 5: 129,930,987 (GRCm39) H312L possibly damaging Het
Zfp729b A G 13: 67,741,585 (GRCm39) Y227H probably damaging Het
Other mutations in Lama5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Lama5 APN 2 179,818,336 (GRCm39) unclassified probably benign
IGL01370:Lama5 APN 2 179,839,193 (GRCm39) missense possibly damaging 0.87
IGL01474:Lama5 APN 2 179,838,363 (GRCm39) missense probably damaging 1.00
IGL01614:Lama5 APN 2 179,822,657 (GRCm39) missense probably damaging 1.00
IGL01941:Lama5 APN 2 179,834,185 (GRCm39) missense possibly damaging 0.71
IGL01953:Lama5 APN 2 179,832,497 (GRCm39) missense probably damaging 0.97
IGL02093:Lama5 APN 2 179,830,380 (GRCm39) missense probably damaging 1.00
IGL02197:Lama5 APN 2 179,849,012 (GRCm39) missense possibly damaging 0.82
IGL02308:Lama5 APN 2 179,832,120 (GRCm39) splice site probably benign
IGL02314:Lama5 APN 2 179,836,275 (GRCm39) splice site probably benign
IGL02317:Lama5 APN 2 179,833,112 (GRCm39) missense probably damaging 1.00
IGL02354:Lama5 APN 2 179,835,677 (GRCm39) nonsense probably null
IGL02361:Lama5 APN 2 179,835,677 (GRCm39) nonsense probably null
IGL02557:Lama5 APN 2 179,832,725 (GRCm39) nonsense probably null
IGL03026:Lama5 APN 2 179,837,760 (GRCm39) missense probably benign 0.34
IGL03160:Lama5 APN 2 179,822,128 (GRCm39) missense probably damaging 1.00
IGL03238:Lama5 APN 2 179,830,367 (GRCm39) missense probably benign
IGL03390:Lama5 APN 2 179,849,011 (GRCm39) missense probably damaging 1.00
blancmange UTSW 2 179,822,404 (GRCm39) missense probably damaging 0.98
cupcake UTSW 2 179,827,752 (GRCm39) missense probably damaging 1.00
layercake UTSW 2 179,822,511 (GRCm39) missense possibly damaging 0.83
poundcake UTSW 2 179,837,401 (GRCm39) missense probably damaging 1.00
Salty UTSW 2 179,823,444 (GRCm39) missense possibly damaging 0.84
PIT4378001:Lama5 UTSW 2 179,831,238 (GRCm39) missense possibly damaging 0.89
R0003:Lama5 UTSW 2 179,819,872 (GRCm39) splice site probably null
R0056:Lama5 UTSW 2 179,828,899 (GRCm39) intron probably benign
R0147:Lama5 UTSW 2 179,832,199 (GRCm39) missense probably benign
R0148:Lama5 UTSW 2 179,832,199 (GRCm39) missense probably benign
R0310:Lama5 UTSW 2 179,823,359 (GRCm39) splice site probably benign
R0326:Lama5 UTSW 2 179,824,219 (GRCm39) missense possibly damaging 0.90
R0368:Lama5 UTSW 2 179,823,023 (GRCm39) nonsense probably null
R0479:Lama5 UTSW 2 179,826,250 (GRCm39) missense probably benign 0.03
R0490:Lama5 UTSW 2 179,821,962 (GRCm39) missense possibly damaging 0.90
R0636:Lama5 UTSW 2 179,831,124 (GRCm39) critical splice donor site probably null
R0704:Lama5 UTSW 2 179,821,277 (GRCm39) missense possibly damaging 0.84
R0733:Lama5 UTSW 2 179,822,511 (GRCm39) missense possibly damaging 0.83
R1017:Lama5 UTSW 2 179,837,213 (GRCm39) missense probably damaging 1.00
R1078:Lama5 UTSW 2 179,821,557 (GRCm39) unclassified probably benign
R1294:Lama5 UTSW 2 179,832,714 (GRCm39) missense probably benign 0.00
R1423:Lama5 UTSW 2 179,837,434 (GRCm39) missense probably damaging 1.00
R1438:Lama5 UTSW 2 179,824,593 (GRCm39) missense probably benign 0.01
R1447:Lama5 UTSW 2 179,827,671 (GRCm39) missense probably damaging 0.99
R1540:Lama5 UTSW 2 179,821,944 (GRCm39) missense probably benign
R1601:Lama5 UTSW 2 179,839,538 (GRCm39) missense probably damaging 1.00
R1624:Lama5 UTSW 2 179,848,551 (GRCm39) missense probably benign 0.02
R1674:Lama5 UTSW 2 179,843,780 (GRCm39) missense probably benign 0.00
R1687:Lama5 UTSW 2 179,835,859 (GRCm39) missense probably benign 0.00
R1696:Lama5 UTSW 2 179,844,279 (GRCm39) missense probably damaging 1.00
R1701:Lama5 UTSW 2 179,863,162 (GRCm39) missense probably damaging 1.00
R1778:Lama5 UTSW 2 179,837,274 (GRCm39) splice site probably benign
R1936:Lama5 UTSW 2 179,832,714 (GRCm39) missense probably benign 0.00
R1939:Lama5 UTSW 2 179,832,714 (GRCm39) missense probably benign 0.00
R1940:Lama5 UTSW 2 179,832,714 (GRCm39) missense probably benign 0.00
R1953:Lama5 UTSW 2 179,832,540 (GRCm39) missense possibly damaging 0.94
R1966:Lama5 UTSW 2 179,830,145 (GRCm39) missense probably damaging 1.00
R2024:Lama5 UTSW 2 179,820,923 (GRCm39) missense probably benign 0.00
R2079:Lama5 UTSW 2 179,867,301 (GRCm39) missense possibly damaging 0.68
R2115:Lama5 UTSW 2 179,828,678 (GRCm39) missense probably damaging 1.00
R2173:Lama5 UTSW 2 179,838,035 (GRCm39) missense probably benign 0.00
R2272:Lama5 UTSW 2 179,820,396 (GRCm39) missense possibly damaging 0.93
R2357:Lama5 UTSW 2 179,821,890 (GRCm39) missense probably benign 0.01
R2860:Lama5 UTSW 2 179,829,040 (GRCm39) missense probably benign 0.00
R2861:Lama5 UTSW 2 179,829,040 (GRCm39) missense probably benign 0.00
R2939:Lama5 UTSW 2 179,840,747 (GRCm39) missense probably damaging 1.00
R3430:Lama5 UTSW 2 179,838,110 (GRCm39) missense probably benign 0.00
R3752:Lama5 UTSW 2 179,829,015 (GRCm39) missense probably damaging 1.00
R3782:Lama5 UTSW 2 179,836,356 (GRCm39) missense possibly damaging 0.57
R3901:Lama5 UTSW 2 179,824,144 (GRCm39) splice site probably benign
R4248:Lama5 UTSW 2 179,822,220 (GRCm39) missense possibly damaging 0.84
R4626:Lama5 UTSW 2 179,826,253 (GRCm39) missense probably damaging 0.98
R4638:Lama5 UTSW 2 179,832,206 (GRCm39) missense possibly damaging 0.89
R4669:Lama5 UTSW 2 179,822,430 (GRCm39) missense probably damaging 1.00
R4673:Lama5 UTSW 2 179,841,059 (GRCm39) missense probably damaging 1.00
R4677:Lama5 UTSW 2 179,821,159 (GRCm39) missense possibly damaging 0.69
R4701:Lama5 UTSW 2 179,833,489 (GRCm39) missense probably damaging 1.00
R4774:Lama5 UTSW 2 179,827,734 (GRCm39) missense probably damaging 1.00
R4880:Lama5 UTSW 2 179,818,861 (GRCm39) unclassified probably benign
R4923:Lama5 UTSW 2 179,825,942 (GRCm39) missense probably benign 0.18
R4960:Lama5 UTSW 2 179,850,045 (GRCm39) critical splice donor site probably null
R4983:Lama5 UTSW 2 179,835,242 (GRCm39) missense probably benign 0.13
R5061:Lama5 UTSW 2 179,840,579 (GRCm39) nonsense probably null
R5080:Lama5 UTSW 2 179,848,993 (GRCm39) nonsense probably null
R5135:Lama5 UTSW 2 179,844,013 (GRCm39) missense possibly damaging 0.89
R5206:Lama5 UTSW 2 179,833,097 (GRCm39) missense probably damaging 1.00
R5296:Lama5 UTSW 2 179,835,594 (GRCm39) missense probably damaging 1.00
R5319:Lama5 UTSW 2 179,822,911 (GRCm39) missense probably damaging 1.00
R5355:Lama5 UTSW 2 179,823,444 (GRCm39) missense possibly damaging 0.84
R5388:Lama5 UTSW 2 179,832,539 (GRCm39) missense possibly damaging 0.83
R5528:Lama5 UTSW 2 179,836,356 (GRCm39) missense probably benign 0.21
R5536:Lama5 UTSW 2 179,831,142 (GRCm39) missense probably damaging 0.99
R5658:Lama5 UTSW 2 179,850,069 (GRCm39) nonsense probably null
R5823:Lama5 UTSW 2 179,834,285 (GRCm39) missense probably benign 0.04
R5885:Lama5 UTSW 2 179,843,624 (GRCm39) missense probably damaging 1.00
R5889:Lama5 UTSW 2 179,835,467 (GRCm39) intron probably benign
R5912:Lama5 UTSW 2 179,837,268 (GRCm39) missense probably damaging 1.00
R5955:Lama5 UTSW 2 179,839,267 (GRCm39) missense probably damaging 1.00
R6015:Lama5 UTSW 2 179,827,185 (GRCm39) missense probably benign 0.36
R6037:Lama5 UTSW 2 179,848,806 (GRCm39) missense probably damaging 1.00
R6037:Lama5 UTSW 2 179,848,806 (GRCm39) missense probably damaging 1.00
R6191:Lama5 UTSW 2 179,827,752 (GRCm39) missense probably damaging 1.00
R6191:Lama5 UTSW 2 179,822,404 (GRCm39) missense probably damaging 0.98
R6359:Lama5 UTSW 2 179,837,775 (GRCm39) missense probably benign 0.01
R6385:Lama5 UTSW 2 179,838,326 (GRCm39) missense probably damaging 1.00
R6406:Lama5 UTSW 2 179,839,257 (GRCm39) nonsense probably null
R6552:Lama5 UTSW 2 179,822,947 (GRCm39) missense probably damaging 0.98
R6632:Lama5 UTSW 2 179,833,455 (GRCm39) missense probably damaging 1.00
R6633:Lama5 UTSW 2 179,833,455 (GRCm39) missense probably damaging 1.00
R6645:Lama5 UTSW 2 179,821,463 (GRCm39) missense probably damaging 1.00
R6731:Lama5 UTSW 2 179,830,367 (GRCm39) missense probably benign 0.09
R6744:Lama5 UTSW 2 179,833,455 (GRCm39) missense probably damaging 1.00
R6798:Lama5 UTSW 2 179,833,455 (GRCm39) missense probably damaging 1.00
R6799:Lama5 UTSW 2 179,833,455 (GRCm39) missense probably damaging 1.00
R6801:Lama5 UTSW 2 179,833,455 (GRCm39) missense probably damaging 1.00
R6851:Lama5 UTSW 2 179,833,455 (GRCm39) missense probably damaging 1.00
R6869:Lama5 UTSW 2 179,833,455 (GRCm39) missense probably damaging 1.00
R6881:Lama5 UTSW 2 179,833,455 (GRCm39) missense probably damaging 1.00
R6882:Lama5 UTSW 2 179,833,455 (GRCm39) missense probably damaging 1.00
R6884:Lama5 UTSW 2 179,833,455 (GRCm39) missense probably damaging 1.00
R7022:Lama5 UTSW 2 179,822,524 (GRCm39) missense probably damaging 1.00
R7204:Lama5 UTSW 2 179,843,970 (GRCm39) missense probably damaging 1.00
R7207:Lama5 UTSW 2 179,848,877 (GRCm39) missense probably damaging 0.98
R7282:Lama5 UTSW 2 179,843,588 (GRCm39) missense probably damaging 1.00
R7367:Lama5 UTSW 2 179,834,751 (GRCm39) missense probably benign 0.01
R7410:Lama5 UTSW 2 179,844,183 (GRCm39) critical splice donor site probably null
R7699:Lama5 UTSW 2 179,822,654 (GRCm39) missense probably damaging 1.00
R7849:Lama5 UTSW 2 179,843,605 (GRCm39) missense probably damaging 1.00
R7909:Lama5 UTSW 2 179,834,069 (GRCm39) missense possibly damaging 0.95
R7948:Lama5 UTSW 2 179,843,994 (GRCm39) missense probably damaging 1.00
R8153:Lama5 UTSW 2 179,829,724 (GRCm39) missense probably benign 0.37
R8317:Lama5 UTSW 2 179,848,784 (GRCm39) missense probably damaging 1.00
R8351:Lama5 UTSW 2 179,837,401 (GRCm39) missense probably damaging 1.00
R8370:Lama5 UTSW 2 179,843,280 (GRCm39) missense possibly damaging 0.80
R8398:Lama5 UTSW 2 179,838,827 (GRCm39) critical splice donor site probably null
R8401:Lama5 UTSW 2 179,840,580 (GRCm39) missense probably damaging 1.00
R8404:Lama5 UTSW 2 179,837,015 (GRCm39) missense probably damaging 1.00
R8502:Lama5 UTSW 2 179,837,015 (GRCm39) missense probably damaging 1.00
R8694:Lama5 UTSW 2 179,822,677 (GRCm39) missense probably damaging 0.98
R8705:Lama5 UTSW 2 179,820,354 (GRCm39) missense probably damaging 1.00
R8732:Lama5 UTSW 2 179,828,481 (GRCm39) missense probably damaging 1.00
R8755:Lama5 UTSW 2 179,832,714 (GRCm39) missense probably benign 0.00
R8786:Lama5 UTSW 2 179,838,100 (GRCm39) missense probably damaging 1.00
R8926:Lama5 UTSW 2 179,835,783 (GRCm39) missense probably benign 0.08
R8928:Lama5 UTSW 2 179,843,832 (GRCm39) missense probably damaging 1.00
R8953:Lama5 UTSW 2 179,835,313 (GRCm39) missense probably damaging 0.99
R8958:Lama5 UTSW 2 179,835,592 (GRCm39) missense probably benign
R9002:Lama5 UTSW 2 179,838,311 (GRCm39) missense probably damaging 1.00
R9081:Lama5 UTSW 2 179,833,930 (GRCm39) nonsense probably null
R9165:Lama5 UTSW 2 179,821,286 (GRCm39) missense probably damaging 0.99
R9233:Lama5 UTSW 2 179,840,502 (GRCm39) nonsense probably null
R9264:Lama5 UTSW 2 179,838,271 (GRCm39) splice site probably benign
R9311:Lama5 UTSW 2 179,838,275 (GRCm39) critical splice donor site probably null
R9443:Lama5 UTSW 2 179,843,522 (GRCm39) missense probably benign 0.00
R9488:Lama5 UTSW 2 179,823,234 (GRCm39) missense possibly damaging 0.95
R9674:Lama5 UTSW 2 179,840,267 (GRCm39) critical splice donor site probably null
R9684:Lama5 UTSW 2 179,849,038 (GRCm39) missense probably damaging 1.00
R9749:Lama5 UTSW 2 179,825,433 (GRCm39) missense probably benign 0.00
RF020:Lama5 UTSW 2 179,837,971 (GRCm39) missense probably benign
X0065:Lama5 UTSW 2 179,823,524 (GRCm39) missense probably benign 0.26
Z1177:Lama5 UTSW 2 179,832,507 (GRCm39) missense possibly damaging 0.95
Z1177:Lama5 UTSW 2 179,831,212 (GRCm39) missense probably damaging 1.00
Z1177:Lama5 UTSW 2 179,825,423 (GRCm39) missense probably benign 0.03
Z1177:Lama5 UTSW 2 179,840,603 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGTTTACATGGGACCGTTC -3'
(R):5'- CCCACAGTCATCATTCCTGAAGG -3'

Sequencing Primer
(F):5'- GTTTACATGGGACCGTTCACAAC -3'
(R):5'- GTCATCATTCCTGAAGGAGCCAG -3'
Posted On 2015-02-05