Incidental Mutation 'R6372:Lama4'
ID 513587
Institutional Source Beutler Lab
Gene Symbol Lama4
Ensembl Gene ENSMUSG00000019846
Gene Name laminin, alpha 4
Synonyms laminin [a]4
MMRRC Submission 044522-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6372 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 38841511-38986184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 38943948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 750 (N750K)
Ref Sequence ENSEMBL: ENSMUSP00000019992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019992]
AlphaFold P97927
Predicted Effect probably benign
Transcript: ENSMUST00000019992
AA Change: N750K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019992
Gene: ENSMUSG00000019846
AA Change: N750K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
EGF_Lam 82 129 1.95e-8 SMART
EGF_Lam 132 184 5.78e-11 SMART
EGF_Lam 187 238 9.83e-14 SMART
Pfam:Laminin_I 283 548 5.3e-71 PFAM
coiled coil region 658 685 N/A INTRINSIC
LamG 850 1009 9.54e-11 SMART
LamG 1066 1205 5.9e-25 SMART
LamG 1250 1374 6.68e-24 SMART
LamG 1484 1619 1.54e-37 SMART
LamG 1661 1794 3.63e-34 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 97% (59/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired motor control of the hind limbs associated with improperly positioned synaptic active zones and junctional folds, and prenatal and neonatal hemorrhages associated with capillary defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T A 10: 87,066,088 (GRCm39) H136Q possibly damaging Het
Aim2 T A 1: 173,282,802 (GRCm39) probably null Het
Atp13a3 T C 16: 30,162,273 (GRCm39) H696R probably damaging Het
Atrnl1 T C 19: 57,638,764 (GRCm39) S301P probably benign Het
Atxn1 T A 13: 45,710,932 (GRCm39) I667F probably damaging Het
Cacnb4 T A 2: 52,324,679 (GRCm39) Y415F probably benign Het
Ccdc183 T C 2: 25,506,176 (GRCm39) D140G probably benign Het
Clec2g A C 6: 128,925,726 (GRCm39) H45P probably benign Het
Col5a3 A G 9: 20,696,882 (GRCm39) V917A probably damaging Het
Cryga T C 1: 65,142,204 (GRCm39) Y63C probably damaging Het
Dnajc28 T C 16: 91,414,176 (GRCm39) I23V probably benign Het
Elovl6 T C 3: 129,426,751 (GRCm39) F139S probably damaging Het
Fcgbp A G 7: 27,806,433 (GRCm39) T2134A probably damaging Het
Fcrl5 C T 3: 87,351,501 (GRCm39) Q250* probably null Het
Gimap1 T A 6: 48,720,290 (GRCm39) *301K probably null Het
Gm17472 T C 6: 42,957,823 (GRCm39) S31P possibly damaging Het
Gm2381 G A 7: 42,470,010 (GRCm39) A38V probably benign Het
Gnl1 T C 17: 36,293,427 (GRCm39) F204S probably damaging Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Hk1 T C 10: 62,127,757 (GRCm39) H370R probably benign Het
Ighv7-2 G A 12: 113,876,075 (GRCm39) T10I probably benign Het
Itga9 A G 9: 118,726,389 (GRCm39) K448E probably damaging Het
Megf11 T C 9: 64,613,907 (GRCm39) Y1077H probably damaging Het
Mrpl45 T C 11: 97,212,388 (GRCm39) probably benign Het
Nbeal2 T C 9: 110,457,812 (GRCm39) D2185G possibly damaging Het
Ncoa3 C T 2: 165,901,267 (GRCm39) S953F possibly damaging Het
Nlrc5 T C 8: 95,206,378 (GRCm39) L743P probably damaging Het
Nol4 A G 18: 23,171,613 (GRCm39) probably null Het
Nol9 T C 4: 152,130,452 (GRCm39) S329P probably damaging Het
Ntrk1 T C 3: 87,693,355 (GRCm39) D259G probably benign Het
Or2y11 A G 11: 49,442,757 (GRCm39) Y61C probably damaging Het
Or4k40 T A 2: 111,251,147 (GRCm39) I50F probably benign Het
Or5al5 T C 2: 85,961,198 (GRCm39) T270A possibly damaging Het
Or5d16 T C 2: 87,773,319 (GRCm39) T218A probably benign Het
Or8h8 T A 2: 86,753,499 (GRCm39) I126F probably damaging Het
Pbx4 C A 8: 70,324,694 (GRCm39) A365E possibly damaging Het
Pcdhb19 T A 18: 37,630,419 (GRCm39) N71K probably benign Het
Pde2a G A 7: 101,130,599 (GRCm39) A80T probably benign Het
Psmb5 C A 14: 54,854,130 (GRCm39) R116L probably damaging Het
Recql A G 6: 142,322,566 (GRCm39) V112A probably damaging Het
Rhbdl3 C A 11: 80,221,482 (GRCm39) L207I probably damaging Het
Rtkn A G 6: 83,128,882 (GRCm39) D459G possibly damaging Het
Rubcnl C A 14: 75,285,009 (GRCm39) S509R probably damaging Het
Slc26a8 T C 17: 28,863,777 (GRCm39) T661A probably benign Het
Sspo A T 6: 48,449,475 (GRCm39) D2472V probably damaging Het
Taf4b T G 18: 14,937,790 (GRCm39) V258G probably damaging Het
Tbc1d19 T G 5: 54,014,252 (GRCm39) S293R possibly damaging Het
Tecpr1 C T 5: 144,153,776 (GRCm39) R159Q probably damaging Het
Tlr3 A G 8: 45,850,048 (GRCm39) S874P probably damaging Het
Tnk2 T A 16: 32,498,603 (GRCm39) W639R probably damaging Het
Tpmt C T 13: 47,189,370 (GRCm39) probably null Het
Trappc9 T A 15: 72,461,923 (GRCm39) D935V possibly damaging Het
Trav13d-4 T C 14: 53,995,118 (GRCm39) V4A probably damaging Het
Ubn1 C T 16: 4,899,502 (GRCm39) T1082I possibly damaging Het
Usf2 G A 7: 30,654,738 (GRCm39) Q35* probably null Het
Vmn1r57 T C 7: 5,223,826 (GRCm39) M117T possibly damaging Het
Vmn2r65 G T 7: 84,589,861 (GRCm39) A685E probably damaging Het
Vxn G A 1: 9,683,546 (GRCm39) E45K probably damaging Het
Zeb2 T C 2: 44,892,551 (GRCm39) E166G probably damaging Het
Zfp808 T C 13: 62,320,291 (GRCm39) S507P probably damaging Het
Other mutations in Lama4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Lama4 APN 10 38,941,591 (GRCm39) splice site probably benign
IGL00091:Lama4 APN 10 38,948,801 (GRCm39) missense probably damaging 1.00
IGL00429:Lama4 APN 10 38,887,022 (GRCm39) missense possibly damaging 0.58
IGL00430:Lama4 APN 10 38,921,700 (GRCm39) missense possibly damaging 0.54
IGL01074:Lama4 APN 10 38,974,484 (GRCm39) critical splice donor site probably null
IGL01386:Lama4 APN 10 38,887,060 (GRCm39) missense probably benign 0.00
IGL01603:Lama4 APN 10 38,941,642 (GRCm39) missense possibly damaging 0.92
IGL01643:Lama4 APN 10 38,932,846 (GRCm39) missense probably benign
IGL01655:Lama4 APN 10 38,936,209 (GRCm39) missense probably benign
IGL01954:Lama4 APN 10 38,963,295 (GRCm39) missense probably benign 0.05
IGL01984:Lama4 APN 10 38,951,525 (GRCm39) critical splice donor site probably null
IGL02193:Lama4 APN 10 38,918,670 (GRCm39) missense probably benign
IGL02290:Lama4 APN 10 38,893,360 (GRCm39) missense probably benign 0.00
IGL02441:Lama4 APN 10 38,937,441 (GRCm39) missense probably benign 0.20
IGL02549:Lama4 APN 10 38,936,200 (GRCm39) missense probably benign 0.00
IGL02797:Lama4 APN 10 38,932,920 (GRCm39) missense probably null 0.00
IGL02819:Lama4 APN 10 38,902,565 (GRCm39) missense possibly damaging 0.80
IGL03122:Lama4 APN 10 38,943,959 (GRCm39) missense probably benign
IGL03184:Lama4 APN 10 38,954,839 (GRCm39) missense probably damaging 1.00
IGL03307:Lama4 APN 10 38,893,379 (GRCm39) missense probably benign
BB006:Lama4 UTSW 10 38,954,843 (GRCm39) missense probably damaging 1.00
BB016:Lama4 UTSW 10 38,954,843 (GRCm39) missense probably damaging 1.00
PIT4585001:Lama4 UTSW 10 38,950,742 (GRCm39) missense probably damaging 1.00
R0003:Lama4 UTSW 10 38,936,218 (GRCm39) missense possibly damaging 0.55
R0015:Lama4 UTSW 10 38,951,432 (GRCm39) missense possibly damaging 0.87
R0015:Lama4 UTSW 10 38,951,432 (GRCm39) missense possibly damaging 0.87
R0035:Lama4 UTSW 10 38,948,734 (GRCm39) missense probably benign 0.01
R0141:Lama4 UTSW 10 38,968,274 (GRCm39) missense probably benign 0.05
R0257:Lama4 UTSW 10 38,970,880 (GRCm39) splice site probably benign
R0267:Lama4 UTSW 10 38,904,635 (GRCm39) missense probably damaging 0.96
R0557:Lama4 UTSW 10 38,964,393 (GRCm39) missense probably benign 0.38
R1052:Lama4 UTSW 10 38,968,241 (GRCm39) missense possibly damaging 0.68
R1248:Lama4 UTSW 10 38,932,843 (GRCm39) missense probably damaging 0.99
R1249:Lama4 UTSW 10 38,951,474 (GRCm39) missense probably damaging 1.00
R1291:Lama4 UTSW 10 38,924,065 (GRCm39) missense probably benign 0.00
R1307:Lama4 UTSW 10 38,946,028 (GRCm39) missense probably benign 0.06
R1404:Lama4 UTSW 10 38,937,387 (GRCm39) missense probably benign 0.09
R1404:Lama4 UTSW 10 38,937,387 (GRCm39) missense probably benign 0.09
R1443:Lama4 UTSW 10 38,949,639 (GRCm39) missense probably damaging 1.00
R1499:Lama4 UTSW 10 38,964,876 (GRCm39) missense possibly damaging 0.92
R1616:Lama4 UTSW 10 38,951,446 (GRCm39) missense probably damaging 1.00
R1691:Lama4 UTSW 10 38,956,559 (GRCm39) missense probably benign 0.09
R1748:Lama4 UTSW 10 38,941,615 (GRCm39) missense probably benign 0.01
R1768:Lama4 UTSW 10 38,979,497 (GRCm39) missense possibly damaging 0.82
R1772:Lama4 UTSW 10 38,936,220 (GRCm39) missense probably benign 0.00
R1813:Lama4 UTSW 10 38,936,182 (GRCm39) missense probably damaging 1.00
R1813:Lama4 UTSW 10 38,909,121 (GRCm39) splice site probably benign
R1897:Lama4 UTSW 10 38,936,182 (GRCm39) missense probably damaging 1.00
R1907:Lama4 UTSW 10 38,948,754 (GRCm39) missense probably benign 0.13
R1943:Lama4 UTSW 10 38,973,134 (GRCm39) missense possibly damaging 0.85
R2041:Lama4 UTSW 10 38,945,987 (GRCm39) missense probably damaging 1.00
R2242:Lama4 UTSW 10 38,902,689 (GRCm39) missense probably damaging 1.00
R2300:Lama4 UTSW 10 38,963,316 (GRCm39) missense probably benign
R2326:Lama4 UTSW 10 38,918,563 (GRCm39) splice site probably null
R2570:Lama4 UTSW 10 38,982,043 (GRCm39) missense probably damaging 1.00
R2570:Lama4 UTSW 10 38,951,354 (GRCm39) missense possibly damaging 0.94
R2571:Lama4 UTSW 10 38,918,671 (GRCm39) missense possibly damaging 0.55
R2887:Lama4 UTSW 10 38,968,250 (GRCm39) missense possibly damaging 0.94
R2926:Lama4 UTSW 10 38,954,828 (GRCm39) missense probably benign 0.16
R3237:Lama4 UTSW 10 38,973,175 (GRCm39) missense probably damaging 0.97
R4095:Lama4 UTSW 10 38,973,118 (GRCm39) missense probably damaging 1.00
R4151:Lama4 UTSW 10 38,881,424 (GRCm39) missense probably benign 0.00
R4470:Lama4 UTSW 10 38,956,492 (GRCm39) nonsense probably null
R4812:Lama4 UTSW 10 38,948,765 (GRCm39) missense probably benign
R4822:Lama4 UTSW 10 38,909,049 (GRCm39) missense probably benign 0.01
R4997:Lama4 UTSW 10 38,968,262 (GRCm39) missense probably damaging 0.99
R5119:Lama4 UTSW 10 38,924,050 (GRCm39) missense probably benign 0.00
R5468:Lama4 UTSW 10 38,948,678 (GRCm39) splice site probably null
R5909:Lama4 UTSW 10 38,948,855 (GRCm39) missense probably benign 0.00
R5917:Lama4 UTSW 10 38,924,028 (GRCm39) missense probably benign 0.10
R5927:Lama4 UTSW 10 38,948,808 (GRCm39) missense probably damaging 1.00
R5950:Lama4 UTSW 10 38,906,444 (GRCm39) missense probably benign 0.03
R6051:Lama4 UTSW 10 38,943,898 (GRCm39) missense probably benign 0.01
R6277:Lama4 UTSW 10 38,982,006 (GRCm39) missense probably damaging 1.00
R6294:Lama4 UTSW 10 38,951,466 (GRCm39) missense probably damaging 1.00
R6532:Lama4 UTSW 10 38,924,073 (GRCm39) missense possibly damaging 0.58
R6547:Lama4 UTSW 10 38,949,652 (GRCm39) missense probably damaging 1.00
R6578:Lama4 UTSW 10 38,893,361 (GRCm39) missense probably benign 0.01
R6737:Lama4 UTSW 10 38,970,907 (GRCm39) missense probably damaging 0.96
R6987:Lama4 UTSW 10 38,950,275 (GRCm39) missense probably benign 0.00
R7040:Lama4 UTSW 10 38,936,158 (GRCm39) missense possibly damaging 0.69
R7139:Lama4 UTSW 10 38,951,491 (GRCm39) missense probably damaging 1.00
R7188:Lama4 UTSW 10 38,841,729 (GRCm39) start gained probably benign
R7189:Lama4 UTSW 10 38,841,729 (GRCm39) start gained probably benign
R7199:Lama4 UTSW 10 38,956,536 (GRCm39) missense possibly damaging 0.84
R7211:Lama4 UTSW 10 38,881,491 (GRCm39) missense probably damaging 0.98
R7262:Lama4 UTSW 10 38,970,930 (GRCm39) missense probably damaging 1.00
R7274:Lama4 UTSW 10 38,968,295 (GRCm39) missense probably benign 0.00
R7311:Lama4 UTSW 10 38,902,631 (GRCm39) missense probably damaging 1.00
R7391:Lama4 UTSW 10 38,963,383 (GRCm39) critical splice donor site probably null
R7399:Lama4 UTSW 10 38,923,944 (GRCm39) missense probably damaging 0.98
R7426:Lama4 UTSW 10 38,921,751 (GRCm39) missense possibly damaging 0.82
R7472:Lama4 UTSW 10 38,963,369 (GRCm39) missense possibly damaging 0.65
R7635:Lama4 UTSW 10 38,968,184 (GRCm39) missense probably benign
R7775:Lama4 UTSW 10 38,954,843 (GRCm39) missense probably damaging 1.00
R7805:Lama4 UTSW 10 38,902,747 (GRCm39) critical splice donor site probably null
R7885:Lama4 UTSW 10 38,964,840 (GRCm39) missense probably benign 0.01
R7895:Lama4 UTSW 10 38,964,325 (GRCm39) missense probably damaging 0.96
R7910:Lama4 UTSW 10 38,946,005 (GRCm39) missense probably damaging 0.99
R7929:Lama4 UTSW 10 38,954,843 (GRCm39) missense probably damaging 1.00
R7952:Lama4 UTSW 10 38,906,486 (GRCm39) missense probably benign 0.39
R7991:Lama4 UTSW 10 38,921,805 (GRCm39) missense possibly damaging 0.70
R8059:Lama4 UTSW 10 38,842,057 (GRCm39) missense probably benign 0.00
R8194:Lama4 UTSW 10 38,954,716 (GRCm39) missense probably damaging 0.99
R8248:Lama4 UTSW 10 38,937,375 (GRCm39) missense possibly damaging 0.82
R8252:Lama4 UTSW 10 38,936,142 (GRCm39) missense probably benign 0.00
R8265:Lama4 UTSW 10 38,981,200 (GRCm39) missense probably damaging 1.00
R8275:Lama4 UTSW 10 38,948,807 (GRCm39) missense probably damaging 1.00
R8426:Lama4 UTSW 10 38,979,487 (GRCm39) missense probably damaging 0.98
R8434:Lama4 UTSW 10 38,902,703 (GRCm39) missense possibly damaging 0.92
R8720:Lama4 UTSW 10 38,971,079 (GRCm39) missense probably damaging 0.97
R8792:Lama4 UTSW 10 38,924,048 (GRCm39) missense probably benign 0.00
R8836:Lama4 UTSW 10 38,902,587 (GRCm39) missense probably damaging 1.00
R8867:Lama4 UTSW 10 38,923,996 (GRCm39) missense probably damaging 1.00
R8892:Lama4 UTSW 10 38,973,194 (GRCm39) missense probably damaging 1.00
R8913:Lama4 UTSW 10 38,982,039 (GRCm39) missense probably benign 0.10
R9129:Lama4 UTSW 10 38,932,887 (GRCm39) missense probably benign
R9177:Lama4 UTSW 10 38,950,688 (GRCm39) missense probably damaging 0.98
R9187:Lama4 UTSW 10 38,924,124 (GRCm39) critical splice donor site probably null
R9193:Lama4 UTSW 10 38,951,444 (GRCm39) missense probably benign 0.03
R9268:Lama4 UTSW 10 38,950,688 (GRCm39) missense probably damaging 0.98
R9287:Lama4 UTSW 10 38,981,960 (GRCm39) missense probably damaging 1.00
R9295:Lama4 UTSW 10 38,948,747 (GRCm39) missense probably damaging 1.00
R9303:Lama4 UTSW 10 38,973,137 (GRCm39) missense probably damaging 0.99
R9330:Lama4 UTSW 10 38,954,722 (GRCm39) missense probably damaging 0.99
R9430:Lama4 UTSW 10 38,921,802 (GRCm39) missense probably null
R9572:Lama4 UTSW 10 38,959,271 (GRCm39) missense probably damaging 1.00
R9636:Lama4 UTSW 10 38,956,500 (GRCm39) missense possibly damaging 0.67
R9663:Lama4 UTSW 10 38,923,944 (GRCm39) missense probably damaging 0.98
R9777:Lama4 UTSW 10 38,924,101 (GRCm39) missense probably benign 0.00
X0067:Lama4 UTSW 10 38,921,688 (GRCm39) missense probably benign 0.00
Z1177:Lama4 UTSW 10 38,881,421 (GRCm39) missense probably damaging 1.00
Z1177:Lama4 UTSW 10 38,881,420 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGACCCCAGTGTTTGCAATG -3'
(R):5'- ACTCTAGGTAAATACAGATGAGCAG -3'

Sequencing Primer
(F):5'- GACCCCAGTGTTTGCAATGAGATC -3'
(R):5'- CTTTCTAACCTGAAAGGCAAATAGC -3'
Posted On 2018-04-27