Incidental Mutation 'R7311:Lama4'
ID 567597
Institutional Source Beutler Lab
Gene Symbol Lama4
Ensembl Gene ENSMUSG00000019846
Gene Name laminin, alpha 4
Synonyms laminin [a]4
MMRRC Submission 045367-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7311 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 38841511-38986184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38902631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 202 (C202S)
Ref Sequence ENSEMBL: ENSMUSP00000019992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019992]
AlphaFold P97927
Predicted Effect probably damaging
Transcript: ENSMUST00000019992
AA Change: C202S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019992
Gene: ENSMUSG00000019846
AA Change: C202S

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: 99.7%
  • 20x: 99.1%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik A G 12: 110,635,184 (GRCm39) V118A probably benign Het
Accsl C T 2: 93,696,160 (GRCm39) G146D possibly damaging Het
Acsm1 A T 7: 119,237,305 (GRCm39) H206L probably damaging Het
Acta2 A G 19: 34,219,186 (GRCm39) Y339H probably damaging Het
Adcy2 T C 13: 68,779,073 (GRCm39) D989G probably damaging Het
Ahnak G A 19: 8,979,507 (GRCm39) A264T probably benign Het
Ahnak A G 19: 8,987,191 (GRCm39) D2825G possibly damaging Het
Akt1 G T 12: 112,623,587 (GRCm39) T291K probably damaging Het
Arhgap24 A G 5: 103,040,551 (GRCm39) D589G probably damaging Het
B4galnt3 G A 6: 120,192,396 (GRCm39) Q447* probably null Het
BC024063 C T 10: 81,945,993 (GRCm39) R538C possibly damaging Het
Bod1l A G 5: 41,951,676 (GRCm39) S2912P possibly damaging Het
Bysl A G 17: 47,912,710 (GRCm39) V360A possibly damaging Het
C1qb A G 4: 136,607,877 (GRCm39) V162A possibly damaging Het
Ccdc57 G A 11: 120,764,567 (GRCm39) P736L probably benign Het
Cep290 T A 10: 100,373,580 (GRCm39) F1287I probably damaging Het
Cntn1 T C 15: 92,130,156 (GRCm39) probably null Het
Col6a3 C T 1: 90,750,013 (GRCm39) G274R probably damaging Het
Cplane1 G T 15: 8,210,399 (GRCm39) V291F probably damaging Het
Cyb5r4 T C 9: 86,937,835 (GRCm39) C285R probably damaging Het
Cyp4f39 G A 17: 32,708,629 (GRCm39) C392Y probably damaging Het
Dcun1d3 A T 7: 119,458,734 (GRCm39) D100E probably damaging Het
Dhx58 A T 11: 100,588,997 (GRCm39) D516E probably benign Het
Dock5 T A 14: 68,065,951 (GRCm39) I351F probably benign Het
Elmod2 A C 8: 84,046,041 (GRCm39) probably null Het
Endov G A 11: 119,398,077 (GRCm39) A281T probably benign Het
Epyc A G 10: 97,485,562 (GRCm39) M1V probably null Het
Espnl T A 1: 91,251,290 (GRCm39) H128Q probably damaging Het
Fam20a A T 11: 109,565,454 (GRCm39) C452* probably null Het
Fam241b A G 10: 61,944,733 (GRCm39) V88A probably damaging Het
Fbxl9 A G 8: 106,042,299 (GRCm39) probably benign Het
Fgd3 A T 13: 49,450,166 (GRCm39) S28T possibly damaging Het
Fmn1 C A 2: 113,356,025 (GRCm39) P920Q unknown Het
Gpr139 G C 7: 118,744,089 (GRCm39) D165E probably benign Het
Hoxb1 A G 11: 96,257,927 (GRCm39) T286A possibly damaging Het
Ifi204 T A 1: 173,587,134 (GRCm39) E174D probably benign Het
Igf2bp2 A G 16: 21,880,632 (GRCm39) I555T possibly damaging Het
Ighv1-85 A G 12: 115,963,799 (GRCm39) I67T probably damaging Het
Ihh G C 1: 74,990,306 (GRCm39) P23R unknown Het
Irx2 T C 13: 72,779,396 (GRCm39) S227P probably damaging Het
Itga4 A G 2: 79,086,526 (GRCm39) I68V probably benign Het
Jsrp1 T A 10: 80,647,906 (GRCm39) T51S probably benign Het
Khdc4 T C 3: 88,619,002 (GRCm39) S569P probably damaging Het
Kifc2 G T 15: 76,547,010 (GRCm39) G306V probably damaging Het
L3mbtl2 T A 15: 81,551,588 (GRCm39) S85T possibly damaging Het
Lama1 T C 17: 68,074,380 (GRCm39) S944P Het
Morc3 G A 16: 93,646,061 (GRCm39) D218N probably damaging Het
Mrtfb T A 16: 13,223,718 (GRCm39) Y866* probably null Het
Myorg A G 4: 41,498,577 (GRCm39) I351T probably damaging Het
N4bp2l1 G A 5: 150,496,389 (GRCm39) T179I probably damaging Het
Narf A G 11: 121,139,976 (GRCm39) E270G probably benign Het
Nsd2 A G 5: 34,049,380 (GRCm39) D1205G probably damaging Het
Or10x1 T C 1: 174,196,759 (GRCm39) V92A probably benign Het
Or5an11 T C 19: 12,246,068 (GRCm39) V158A probably benign Het
Parl T C 16: 20,106,625 (GRCm39) T195A probably benign Het
Phrf1 A G 7: 140,820,846 (GRCm39) I158V unknown Het
Phtf1 T C 3: 103,904,980 (GRCm39) F543L possibly damaging Het
Plod2 T A 9: 92,466,611 (GRCm39) D190E probably damaging Het
Polr1a G T 6: 71,927,863 (GRCm39) K871N possibly damaging Het
Ppp2r5a A T 1: 191,089,998 (GRCm39) I252K probably damaging Het
Ptgir T A 7: 16,640,973 (GRCm39) D88E probably damaging Het
Raly T C 2: 154,699,340 (GRCm39) V48A probably damaging Het
Ripor1 T A 8: 106,344,447 (GRCm39) L527* probably null Het
Rnf213 T C 11: 119,307,373 (GRCm39) S678P Het
Rpf1 T A 3: 146,212,918 (GRCm39) Q306L probably benign Het
Rpl14 T C 9: 120,403,171 (GRCm39) I122T probably damaging Het
Scn9a C A 2: 66,314,748 (GRCm39) A1657S possibly damaging Het
Serpinb10 A G 1: 107,474,477 (GRCm39) Y213C probably damaging Het
Slc25a23 A G 17: 57,359,827 (GRCm39) L308P probably damaging Het
Smg9 T A 7: 24,120,058 (GRCm39) M387K probably benign Het
Socs3 G A 11: 117,858,614 (GRCm39) P148L probably benign Het
Susd3 A G 13: 49,401,906 (GRCm39) L14P probably benign Het
Syt14 T A 1: 192,662,858 (GRCm39) M80L probably benign Het
Tmprss2 T A 16: 97,369,616 (GRCm39) Y386F possibly damaging Het
Tmx3 T A 18: 90,558,195 (GRCm39) S416T probably benign Het
Treh A G 9: 44,597,245 (GRCm39) T555A probably benign Het
Ttc5 T G 14: 51,003,400 (GRCm39) Q428P probably damaging Het
Vmn2r73 A G 7: 85,521,192 (GRCm39) S259P possibly damaging Het
Vps4b A T 1: 106,719,434 (GRCm39) V38E probably damaging Het
Wdr83 C A 8: 85,802,890 (GRCm39) R177L probably benign Het
Zfp780b A G 7: 27,662,588 (GRCm39) F656L possibly damaging Het
Zfp995 A T 17: 22,099,641 (GRCm39) F198I probably benign Het
Zswim8 A T 14: 20,771,552 (GRCm39) Y1495F 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
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
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'- GAATTCCAGGTGGGCATCTAC -3'
(R):5'- TCACCTAAGTCAGTCCTGGTGG -3'

Sequencing Primer
(F):5'- TTCCAGGTGGGCATCTACAAATATCC -3'
(R):5'- CTAAGTCAGTCCTGGTGGAGAGC -3'
Posted On 2019-06-26