Incidental Mutation 'R9663:Lama4'
ID 727696
Institutional Source Beutler Lab
Gene Symbol Lama4
Ensembl Gene ENSMUSG00000019846
Gene Name laminin, alpha 4
Synonyms laminin [a]4
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9663 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 38841511-38986184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38923944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 451 (E451K)
Ref Sequence ENSEMBL: ENSMUSP00000019992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019992]
AlphaFold P97927
Predicted Effect probably damaging
Transcript: ENSMUST00000019992
AA Change: E451K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019992
Gene: ENSMUSG00000019846
AA Change: E451K

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh6 T C 7: 30,013,371 (GRCm39) S161P probably damaging Het
Alppl2 T A 1: 87,015,753 (GRCm39) H297L probably benign Het
Angptl2 A G 2: 33,118,231 (GRCm39) R2G probably benign Het
Arhgef15 T A 11: 68,845,255 (GRCm39) N199I probably damaging Het
Asns A T 6: 7,680,132 (GRCm39) I328K probably damaging Het
Atad2 G T 15: 57,971,540 (GRCm39) T734K probably benign Het
Capn3 A C 2: 120,316,859 (GRCm39) M283L probably benign Het
Catsperd T A 17: 56,960,751 (GRCm39) C384S possibly damaging Het
Cd101 A G 3: 100,911,222 (GRCm39) V816A probably benign Het
Cd5 T G 19: 10,703,858 (GRCm39) D68A probably benign Het
Ceacam18 G A 7: 43,288,764 (GRCm39) V172M probably damaging Het
Cfap100 G A 6: 90,386,328 (GRCm39) R276C Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Creb3l2 A G 6: 37,356,926 (GRCm39) V47A probably damaging Het
Crebbp T A 16: 3,933,654 (GRCm39) E1017D probably damaging Het
Cttn T C 7: 144,011,461 (GRCm39) D116G probably damaging Het
Cyp2c65 A G 19: 39,079,070 (GRCm39) probably null Het
Dcaf13 C T 15: 38,982,178 (GRCm39) T48I possibly damaging Het
Dsc2 T A 18: 20,171,205 (GRCm39) D598V probably damaging Het
Dtx3 G A 10: 127,028,518 (GRCm39) T237I probably damaging Het
E130308A19Rik A G 4: 59,719,764 (GRCm39) E432G possibly damaging Het
Eps15 G A 4: 109,179,270 (GRCm39) V219I probably benign Het
Ext1 A G 15: 53,208,456 (GRCm39) S102P probably damaging Het
Fam151a A T 4: 106,604,894 (GRCm39) I419L possibly damaging Het
Fam89a C T 8: 125,478,436 (GRCm39) G38D probably damaging Het
Fdx2 G T 9: 20,984,717 (GRCm39) A29E probably benign Het
Hhla1 G A 15: 65,813,630 (GRCm39) T234I probably damaging Het
Hspb6 G A 7: 30,253,714 (GRCm39) V76M probably damaging Het
Ighmbp2 C A 19: 3,315,325 (GRCm39) K698N probably benign Het
Invs A G 4: 48,426,218 (GRCm39) I1002V probably damaging Het
Itga8 A C 2: 12,196,580 (GRCm39) F612L probably benign Het
Kcnma1 G T 14: 24,053,897 (GRCm39) F99L probably benign Het
Klf11 A G 12: 24,705,731 (GRCm39) Y395C probably damaging Het
Kplce A T 3: 92,776,283 (GRCm39) N133K probably benign Het
Lrr1 A G 12: 69,221,884 (GRCm39) Y342C probably damaging Het
Lrrc18 A T 14: 32,731,021 (GRCm39) M187L probably benign Het
Luc7l3 A G 11: 94,187,756 (GRCm39) S311P unknown Het
Lypd3 T A 7: 24,338,349 (GRCm39) S133R probably damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mug1 T A 6: 121,859,699 (GRCm39) S1233T probably benign Het
Mug1 A T 6: 121,857,463 (GRCm39) E1062D probably benign Het
Myh7 T C 14: 55,221,098 (GRCm39) K942E probably damaging Het
Nedd9 T C 13: 41,469,941 (GRCm39) D404G probably damaging Het
Nisch C A 14: 30,895,625 (GRCm39) A1022S probably damaging Het
Nkx3-1 A G 14: 69,429,321 (GRCm39) D113G probably benign Het
Or1ad6 T C 11: 50,860,165 (GRCm39) F107L probably benign Het
Or6c1b A T 10: 129,272,929 (GRCm39) I83F probably damaging Het
Or6c215 A G 10: 129,637,497 (GRCm39) F299S probably benign Het
Otub1 C T 19: 7,176,813 (GRCm39) G181D probably damaging Het
Palb2 T C 7: 121,726,304 (GRCm39) H522R probably benign Het
Pfpl A T 19: 12,407,459 (GRCm39) D570V probably damaging Het
Phyhd1 A G 2: 30,171,070 (GRCm39) N271S probably damaging Het
Ptprm T C 17: 67,498,291 (GRCm39) Q50R probably benign Het
Rfx2 C A 17: 57,087,895 (GRCm39) V499L possibly damaging Het
Sema5a C T 15: 32,673,546 (GRCm39) Q795* probably null Het
Sf3a2 A G 10: 80,637,309 (GRCm39) N49S probably damaging Het
Sft2d1 T G 17: 8,545,812 (GRCm39) S156A probably benign Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc25a33 T A 4: 149,836,913 (GRCm39) T144S probably benign Het
Slc7a13 A T 4: 19,818,818 (GRCm39) K6M possibly damaging Het
Spata31e5 G T 1: 28,816,536 (GRCm39) H499N probably benign Het
Tfap2c G A 2: 172,399,213 (GRCm39) D487N probably damaging Het
Thbs1 G A 2: 117,949,897 (GRCm39) R624Q probably damaging Het
Thsd4 A G 9: 59,890,026 (GRCm39) F857S probably damaging Het
Tnfrsf4 A G 4: 156,100,884 (GRCm39) I272V probably benign Het
Trak1 C T 9: 121,220,924 (GRCm39) R45C probably benign Het
Trpm2 A G 10: 77,756,320 (GRCm39) S1167P probably benign Het
Ttc14 A T 3: 33,855,537 (GRCm39) T161S probably benign Het
Ttll1 A G 15: 83,380,579 (GRCm39) V262A possibly damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Ufsp1 C A 5: 137,293,545 (GRCm39) P165Q possibly damaging Het
Usp19 T G 9: 108,371,894 (GRCm39) L390R probably damaging Het
Vegfc G T 8: 54,634,338 (GRCm39) C339F probably damaging Het
Vmn2r6 A T 3: 64,463,549 (GRCm39) N428K possibly damaging Het
Wdr11 T G 7: 129,210,647 (GRCm39) V517G probably damaging Het
Xkr4 T A 1: 3,286,519 (GRCm39) D557V probably benign Het
Zan C A 5: 137,379,119 (GRCm39) C5327F unknown Het
Zfp770 A T 2: 114,026,949 (GRCm39) N373K probably benign 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
R6372:Lama4 UTSW 10 38,943,948 (GRCm39) missense probably benign
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
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'- GGAGTTCCTAAATCCAGCAGG -3'
(R):5'- TATGCCTGACATGCGTTCACAG -3'

Sequencing Primer
(F):5'- GGAAAGCATCTCTCCCTTAACTGG -3'
(R):5'- ACATGCGTTCACAGTTGCTG -3'
Posted On 2022-10-06