Incidental Mutation 'R6632:Lama5'
ID 525198
Institutional Source Beutler Lab
Gene Symbol Lama5
Ensembl Gene ENSMUSG00000015647
Gene Name laminin, alpha 5
Synonyms
MMRRC Submission 044754-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6632 (G1)
Quality Score 210.009
Status Validated
Chromosome 2
Chromosomal Location 180176373-180225859 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 180191662 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 1519 (P1519L)
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: P1519L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015791
Gene: ENSMUSG00000015647
AA Change: P1519L

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
Meta Mutation Damage Score 0.4283 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 100% (38/38)
MGI Phenotype Strain: 3624772; 1934917
Lethality: E1-E17
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,281,067 (GRCm38) S758P possibly damaging Het
Abca3 C G 17: 24,384,470 (GRCm38) D545E probably benign Het
Akap9 T A 5: 4,013,842 (GRCm38) probably null Het
Akr1b1 C T 6: 34,310,004 (GRCm38) V206M possibly damaging Het
Arpp21 G A 9: 112,127,356 (GRCm38) Q518* probably null Het
Atp9b G A 18: 80,808,649 (GRCm38) R410W probably damaging Het
Cacna2d3 T C 14: 28,905,265 (GRCm38) *265W probably null Het
Ccdc96 G A 5: 36,485,189 (GRCm38) E180K probably benign Het
Cep164 T C 9: 45,779,790 (GRCm38) K1231E possibly damaging Het
Cnot1 A G 8: 95,773,267 (GRCm38) probably benign Het
Cpne2 T C 8: 94,554,955 (GRCm38) V206A probably benign Het
Dchs1 A G 7: 105,761,878 (GRCm38) Y1647H probably damaging Het
Dnaaf5 A G 5: 139,170,333 (GRCm38) T590A probably benign Het
Eif4g1 A T 16: 20,685,520 (GRCm38) I1068F probably damaging Het
Ephb4 A T 5: 137,366,587 (GRCm38) K639N probably damaging Het
Gcc2 A G 10: 58,270,049 (GRCm38) probably null Het
Gm35315 A C 5: 110,079,263 (GRCm38) Y103* probably null Het
Hsd17b4 A G 18: 50,179,102 (GRCm38) K578R possibly damaging Het
Ice2 T C 9: 69,428,452 (GRCm38) S906P probably benign Het
Irx4 G T 13: 73,268,426 (GRCm38) A314S probably benign Het
Lrp1b A T 2: 40,725,442 (GRCm38) W3650R probably benign Het
Mcoln3 C T 3: 146,128,187 (GRCm38) H161Y probably benign Het
Mphosph10 A T 7: 64,385,819 (GRCm38) M368K probably damaging Het
Msh2 A C 17: 87,712,666 (GRCm38) K567Q possibly damaging Het
N4bp3 T C 11: 51,643,949 (GRCm38) E429G possibly damaging Het
Nrxn3 G A 12: 89,193,154 (GRCm38) A17T probably damaging Het
Or2aj6 T C 16: 19,625,023 (GRCm38) T26A probably benign Het
Or5b106 T A 19: 13,146,188 (GRCm38) Y157F probably benign Het
P4ha2 G T 11: 54,117,648 (GRCm38) R227L probably benign Het
Pfkfb4 G A 9: 109,009,562 (GRCm38) probably null Het
Ror1 A G 4: 100,442,106 (GRCm38) N892S probably benign Het
Scn9a G T 2: 66,483,502 (GRCm38) D1957E probably benign Het
Sec24a A T 11: 51,713,649 (GRCm38) Y713* probably null Het
Serpinb1b T A 13: 33,087,455 (GRCm38) F70I probably damaging Het
Setdb1 T C 3: 95,324,149 (GRCm38) Y1284C probably damaging Het
Suco A T 1: 161,828,240 (GRCm38) M1030K possibly damaging Het
Syne1 A T 10: 5,215,667 (GRCm38) probably null Het
Other mutations in Lama5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Lama5 APN 2 180,176,543 (GRCm38) unclassified probably benign
IGL01370:Lama5 APN 2 180,197,400 (GRCm38) missense possibly damaging 0.87
IGL01474:Lama5 APN 2 180,196,570 (GRCm38) missense probably damaging 1.00
IGL01614:Lama5 APN 2 180,180,864 (GRCm38) missense probably damaging 1.00
IGL01941:Lama5 APN 2 180,192,392 (GRCm38) missense possibly damaging 0.71
IGL01953:Lama5 APN 2 180,190,704 (GRCm38) missense probably damaging 0.97
IGL02093:Lama5 APN 2 180,188,587 (GRCm38) missense probably damaging 1.00
IGL02197:Lama5 APN 2 180,207,219 (GRCm38) missense possibly damaging 0.82
IGL02308:Lama5 APN 2 180,190,327 (GRCm38) splice site probably benign
IGL02314:Lama5 APN 2 180,194,482 (GRCm38) splice site probably benign
IGL02317:Lama5 APN 2 180,191,319 (GRCm38) missense probably damaging 1.00
IGL02354:Lama5 APN 2 180,193,884 (GRCm38) nonsense probably null
IGL02361:Lama5 APN 2 180,193,884 (GRCm38) nonsense probably null
IGL02557:Lama5 APN 2 180,190,932 (GRCm38) nonsense probably null
IGL03026:Lama5 APN 2 180,195,967 (GRCm38) missense probably benign 0.34
IGL03160:Lama5 APN 2 180,180,335 (GRCm38) missense probably damaging 1.00
IGL03238:Lama5 APN 2 180,188,574 (GRCm38) missense probably benign
IGL03390:Lama5 APN 2 180,207,218 (GRCm38) missense probably damaging 1.00
blancmange UTSW 2 180,180,611 (GRCm38) missense probably damaging 0.98
cupcake UTSW 2 180,185,959 (GRCm38) missense probably damaging 1.00
layercake UTSW 2 180,180,718 (GRCm38) missense possibly damaging 0.83
poundcake UTSW 2 180,195,608 (GRCm38) missense probably damaging 1.00
Salty UTSW 2 180,181,651 (GRCm38) missense possibly damaging 0.84
PIT4378001:Lama5 UTSW 2 180,189,445 (GRCm38) missense possibly damaging 0.89
R0003:Lama5 UTSW 2 180,178,079 (GRCm38) splice site probably null
R0056:Lama5 UTSW 2 180,187,106 (GRCm38) intron probably benign
R0147:Lama5 UTSW 2 180,190,406 (GRCm38) missense probably benign
R0148:Lama5 UTSW 2 180,190,406 (GRCm38) missense probably benign
R0310:Lama5 UTSW 2 180,181,566 (GRCm38) splice site probably benign
R0326:Lama5 UTSW 2 180,182,426 (GRCm38) missense possibly damaging 0.90
R0368:Lama5 UTSW 2 180,181,230 (GRCm38) nonsense probably null
R0479:Lama5 UTSW 2 180,184,457 (GRCm38) missense probably benign 0.03
R0490:Lama5 UTSW 2 180,180,169 (GRCm38) missense possibly damaging 0.90
R0636:Lama5 UTSW 2 180,189,331 (GRCm38) critical splice donor site probably null
R0704:Lama5 UTSW 2 180,179,484 (GRCm38) missense possibly damaging 0.84
R0733:Lama5 UTSW 2 180,180,718 (GRCm38) missense possibly damaging 0.83
R1017:Lama5 UTSW 2 180,195,420 (GRCm38) missense probably damaging 1.00
R1078:Lama5 UTSW 2 180,179,764 (GRCm38) unclassified probably benign
R1294:Lama5 UTSW 2 180,190,921 (GRCm38) missense probably benign 0.00
R1423:Lama5 UTSW 2 180,195,641 (GRCm38) missense probably damaging 1.00
R1438:Lama5 UTSW 2 180,182,800 (GRCm38) missense probably benign 0.01
R1447:Lama5 UTSW 2 180,185,878 (GRCm38) missense probably damaging 0.99
R1540:Lama5 UTSW 2 180,180,151 (GRCm38) missense probably benign
R1601:Lama5 UTSW 2 180,197,745 (GRCm38) missense probably damaging 1.00
R1624:Lama5 UTSW 2 180,206,758 (GRCm38) missense probably benign 0.02
R1674:Lama5 UTSW 2 180,201,987 (GRCm38) missense probably benign 0.00
R1687:Lama5 UTSW 2 180,194,066 (GRCm38) missense probably benign 0.00
R1696:Lama5 UTSW 2 180,202,486 (GRCm38) missense probably damaging 1.00
R1701:Lama5 UTSW 2 180,221,369 (GRCm38) missense probably damaging 1.00
R1778:Lama5 UTSW 2 180,195,481 (GRCm38) splice site probably benign
R1936:Lama5 UTSW 2 180,190,921 (GRCm38) missense probably benign 0.00
R1939:Lama5 UTSW 2 180,190,921 (GRCm38) missense probably benign 0.00
R1940:Lama5 UTSW 2 180,190,921 (GRCm38) missense probably benign 0.00
R1953:Lama5 UTSW 2 180,190,747 (GRCm38) missense possibly damaging 0.94
R1966:Lama5 UTSW 2 180,188,352 (GRCm38) missense probably damaging 1.00
R2024:Lama5 UTSW 2 180,179,130 (GRCm38) missense probably benign 0.00
R2079:Lama5 UTSW 2 180,225,508 (GRCm38) missense possibly damaging 0.68
R2115:Lama5 UTSW 2 180,186,885 (GRCm38) missense probably damaging 1.00
R2173:Lama5 UTSW 2 180,196,242 (GRCm38) missense probably benign 0.00
R2272:Lama5 UTSW 2 180,178,603 (GRCm38) missense possibly damaging 0.93
R2357:Lama5 UTSW 2 180,180,097 (GRCm38) missense probably benign 0.01
R2860:Lama5 UTSW 2 180,187,247 (GRCm38) missense probably benign 0.00
R2861:Lama5 UTSW 2 180,187,247 (GRCm38) missense probably benign 0.00
R2939:Lama5 UTSW 2 180,198,954 (GRCm38) missense probably damaging 1.00
R3053:Lama5 UTSW 2 180,183,067 (GRCm38) missense probably damaging 0.99
R3430:Lama5 UTSW 2 180,196,317 (GRCm38) missense probably benign 0.00
R3752:Lama5 UTSW 2 180,187,222 (GRCm38) missense probably damaging 1.00
R3782:Lama5 UTSW 2 180,194,563 (GRCm38) missense possibly damaging 0.57
R3901:Lama5 UTSW 2 180,182,351 (GRCm38) splice site probably benign
R4248:Lama5 UTSW 2 180,180,427 (GRCm38) missense possibly damaging 0.84
R4626:Lama5 UTSW 2 180,184,460 (GRCm38) missense probably damaging 0.98
R4638:Lama5 UTSW 2 180,190,413 (GRCm38) missense possibly damaging 0.89
R4669:Lama5 UTSW 2 180,180,637 (GRCm38) missense probably damaging 1.00
R4673:Lama5 UTSW 2 180,199,266 (GRCm38) missense probably damaging 1.00
R4677:Lama5 UTSW 2 180,179,366 (GRCm38) missense possibly damaging 0.69
R4701:Lama5 UTSW 2 180,191,696 (GRCm38) missense probably damaging 1.00
R4774:Lama5 UTSW 2 180,185,941 (GRCm38) missense probably damaging 1.00
R4880:Lama5 UTSW 2 180,177,068 (GRCm38) unclassified probably benign
R4923:Lama5 UTSW 2 180,184,149 (GRCm38) missense probably benign 0.18
R4960:Lama5 UTSW 2 180,208,252 (GRCm38) critical splice donor site probably null
R4983:Lama5 UTSW 2 180,193,449 (GRCm38) missense probably benign 0.13
R5061:Lama5 UTSW 2 180,198,786 (GRCm38) nonsense probably null
R5080:Lama5 UTSW 2 180,207,200 (GRCm38) nonsense probably null
R5135:Lama5 UTSW 2 180,202,220 (GRCm38) missense possibly damaging 0.89
R5206:Lama5 UTSW 2 180,191,304 (GRCm38) missense probably damaging 1.00
R5296:Lama5 UTSW 2 180,193,801 (GRCm38) missense probably damaging 1.00
R5319:Lama5 UTSW 2 180,181,118 (GRCm38) missense probably damaging 1.00
R5355:Lama5 UTSW 2 180,181,651 (GRCm38) missense possibly damaging 0.84
R5388:Lama5 UTSW 2 180,190,746 (GRCm38) missense possibly damaging 0.83
R5528:Lama5 UTSW 2 180,194,563 (GRCm38) missense probably benign 0.21
R5536:Lama5 UTSW 2 180,189,349 (GRCm38) missense probably damaging 0.99
R5658:Lama5 UTSW 2 180,208,276 (GRCm38) nonsense probably null
R5823:Lama5 UTSW 2 180,192,492 (GRCm38) missense probably benign 0.04
R5885:Lama5 UTSW 2 180,201,831 (GRCm38) missense probably damaging 1.00
R5889:Lama5 UTSW 2 180,193,674 (GRCm38) intron probably benign
R5912:Lama5 UTSW 2 180,195,475 (GRCm38) missense probably damaging 1.00
R5955:Lama5 UTSW 2 180,197,474 (GRCm38) missense probably damaging 1.00
R6015:Lama5 UTSW 2 180,185,392 (GRCm38) missense probably benign 0.36
R6037:Lama5 UTSW 2 180,207,013 (GRCm38) missense probably damaging 1.00
R6037:Lama5 UTSW 2 180,207,013 (GRCm38) missense probably damaging 1.00
R6191:Lama5 UTSW 2 180,185,959 (GRCm38) missense probably damaging 1.00
R6191:Lama5 UTSW 2 180,180,611 (GRCm38) missense probably damaging 0.98
R6359:Lama5 UTSW 2 180,195,982 (GRCm38) missense probably benign 0.01
R6385:Lama5 UTSW 2 180,196,533 (GRCm38) missense probably damaging 1.00
R6406:Lama5 UTSW 2 180,197,464 (GRCm38) nonsense probably null
R6552:Lama5 UTSW 2 180,181,154 (GRCm38) missense probably damaging 0.98
R6633:Lama5 UTSW 2 180,191,662 (GRCm38) missense probably damaging 1.00
R6645:Lama5 UTSW 2 180,179,670 (GRCm38) missense probably damaging 1.00
R6731:Lama5 UTSW 2 180,188,574 (GRCm38) missense probably benign 0.09
R6744:Lama5 UTSW 2 180,191,662 (GRCm38) missense probably damaging 1.00
R6798:Lama5 UTSW 2 180,191,662 (GRCm38) missense probably damaging 1.00
R6799:Lama5 UTSW 2 180,191,662 (GRCm38) missense probably damaging 1.00
R6801:Lama5 UTSW 2 180,191,662 (GRCm38) missense probably damaging 1.00
R6851:Lama5 UTSW 2 180,191,662 (GRCm38) missense probably damaging 1.00
R6869:Lama5 UTSW 2 180,191,662 (GRCm38) missense probably damaging 1.00
R6881:Lama5 UTSW 2 180,191,662 (GRCm38) missense probably damaging 1.00
R6882:Lama5 UTSW 2 180,191,662 (GRCm38) missense probably damaging 1.00
R6884:Lama5 UTSW 2 180,191,662 (GRCm38) missense probably damaging 1.00
R7022:Lama5 UTSW 2 180,180,731 (GRCm38) missense probably damaging 1.00
R7204:Lama5 UTSW 2 180,202,177 (GRCm38) missense probably damaging 1.00
R7207:Lama5 UTSW 2 180,207,084 (GRCm38) missense probably damaging 0.98
R7282:Lama5 UTSW 2 180,201,795 (GRCm38) missense probably damaging 1.00
R7367:Lama5 UTSW 2 180,192,958 (GRCm38) missense probably benign 0.01
R7410:Lama5 UTSW 2 180,202,390 (GRCm38) critical splice donor site probably null
R7699:Lama5 UTSW 2 180,180,861 (GRCm38) missense probably damaging 1.00
R7849:Lama5 UTSW 2 180,201,812 (GRCm38) missense probably damaging 1.00
R7909:Lama5 UTSW 2 180,192,276 (GRCm38) missense possibly damaging 0.95
R7948:Lama5 UTSW 2 180,202,201 (GRCm38) missense probably damaging 1.00
R8153:Lama5 UTSW 2 180,187,931 (GRCm38) missense probably benign 0.37
R8317:Lama5 UTSW 2 180,206,991 (GRCm38) missense probably damaging 1.00
R8351:Lama5 UTSW 2 180,195,608 (GRCm38) missense probably damaging 1.00
R8370:Lama5 UTSW 2 180,201,487 (GRCm38) missense possibly damaging 0.80
R8398:Lama5 UTSW 2 180,197,034 (GRCm38) critical splice donor site probably null
R8401:Lama5 UTSW 2 180,198,787 (GRCm38) missense probably damaging 1.00
R8404:Lama5 UTSW 2 180,195,222 (GRCm38) missense probably damaging 1.00
R8502:Lama5 UTSW 2 180,195,222 (GRCm38) missense probably damaging 1.00
R8694:Lama5 UTSW 2 180,180,884 (GRCm38) missense probably damaging 0.98
R8705:Lama5 UTSW 2 180,178,561 (GRCm38) missense probably damaging 1.00
R8732:Lama5 UTSW 2 180,186,688 (GRCm38) missense probably damaging 1.00
R8755:Lama5 UTSW 2 180,190,921 (GRCm38) missense probably benign 0.00
R8786:Lama5 UTSW 2 180,196,307 (GRCm38) missense probably damaging 1.00
R8926:Lama5 UTSW 2 180,193,990 (GRCm38) missense probably benign 0.08
R8928:Lama5 UTSW 2 180,202,039 (GRCm38) missense probably damaging 1.00
R8953:Lama5 UTSW 2 180,193,520 (GRCm38) missense probably damaging 0.99
R8958:Lama5 UTSW 2 180,193,799 (GRCm38) missense probably benign
R9002:Lama5 UTSW 2 180,196,518 (GRCm38) missense probably damaging 1.00
R9081:Lama5 UTSW 2 180,192,137 (GRCm38) nonsense probably null
R9165:Lama5 UTSW 2 180,179,493 (GRCm38) missense probably damaging 0.99
R9233:Lama5 UTSW 2 180,198,709 (GRCm38) nonsense probably null
R9264:Lama5 UTSW 2 180,196,478 (GRCm38) splice site probably benign
R9311:Lama5 UTSW 2 180,196,482 (GRCm38) critical splice donor site probably null
R9443:Lama5 UTSW 2 180,201,729 (GRCm38) missense probably benign 0.00
R9488:Lama5 UTSW 2 180,181,441 (GRCm38) missense possibly damaging 0.95
R9674:Lama5 UTSW 2 180,198,474 (GRCm38) critical splice donor site probably null
R9684:Lama5 UTSW 2 180,207,245 (GRCm38) missense probably damaging 1.00
R9749:Lama5 UTSW 2 180,183,640 (GRCm38) missense probably benign 0.00
RF020:Lama5 UTSW 2 180,196,178 (GRCm38) missense probably benign
X0065:Lama5 UTSW 2 180,181,731 (GRCm38) missense probably benign 0.26
Z1177:Lama5 UTSW 2 180,190,714 (GRCm38) missense possibly damaging 0.95
Z1177:Lama5 UTSW 2 180,189,419 (GRCm38) missense probably damaging 1.00
Z1177:Lama5 UTSW 2 180,183,630 (GRCm38) missense probably benign 0.03
Z1177:Lama5 UTSW 2 180,198,810 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGAAAGGCGATGCTCTCC -3'
(R):5'- TAACAGTGACACATAGGAGCCTG -3'

Sequencing Primer
(F):5'- AAAGGCGATGCTCTCCCTGAC -3'
(R):5'- CACATAGGAGCCTGGCAGG -3'
Posted On 2018-06-22