Incidental Mutation 'R5950:Lama4'
ID 472395
Institutional Source Beutler Lab
Gene Symbol Lama4
Ensembl Gene ENSMUSG00000019846
Gene Name laminin, alpha 4
Synonyms laminin [a]4
MMRRC Submission 044140-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5950 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 38841511-38986184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38906444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 270 (V270D)
Ref Sequence ENSEMBL: ENSMUSP00000019992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019992]
AlphaFold P97927
Predicted Effect probably benign
Transcript: ENSMUST00000019992
AA Change: V270D

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000019992
Gene: ENSMUSG00000019846
AA Change: V270D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162211
Meta Mutation Damage Score 0.2553 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 93% (75/81)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 G A 7: 119,981,879 (GRCm39) G1065R probably damaging Het
Acox2 A T 14: 8,255,793 (GRCm38) Y113N probably benign Het
Arid4b T A 13: 14,365,849 (GRCm39) probably benign Het
Atf6 C T 1: 170,662,448 (GRCm39) G271R probably damaging Het
Bnip5 T A 17: 29,124,729 (GRCm39) Q256L possibly damaging Het
Cct8l1 C A 5: 25,722,741 (GRCm39) F485L probably benign Het
Cdk5r2 A G 1: 74,894,561 (GRCm39) E102G probably damaging Het
Celsr1 A T 15: 85,916,701 (GRCm39) V424E probably damaging Het
Ces1h T C 8: 94,089,587 (GRCm39) T271A probably benign Het
Cfap44 T C 16: 44,300,210 (GRCm39) I1738T probably damaging Het
Cntnap3 G A 13: 64,935,583 (GRCm39) L427F probably damaging Het
Crybg3 T C 16: 59,313,934 (GRCm39) probably benign Het
Dis3l2 A G 1: 86,948,830 (GRCm39) D589G probably damaging Het
Dlg1 A G 16: 31,484,401 (GRCm39) R10G probably damaging Het
Dnajc1 A C 2: 18,311,752 (GRCm39) probably benign Het
Dpy19l2 T A 9: 24,492,430 (GRCm39) T723S probably benign Het
Dsg3 A T 18: 20,671,586 (GRCm39) N764Y probably damaging Het
Dst G T 1: 34,301,141 (GRCm39) R3654L probably damaging Het
Dynlt5 T G 4: 102,861,447 (GRCm39) L147R probably damaging Het
Evl C T 12: 108,641,812 (GRCm39) T198I probably benign Het
Hectd2 A G 19: 36,574,639 (GRCm39) probably benign Het
Hsp90b1 A G 10: 86,537,609 (GRCm39) V232A possibly damaging Het
Igsf5 T C 16: 96,174,072 (GRCm39) V34A probably benign Het
Ikzf2 A T 1: 69,722,403 (GRCm39) N41K probably damaging Het
Kif6 G T 17: 50,022,116 (GRCm39) A339S probably damaging Het
Klhl1 T A 14: 96,477,790 (GRCm39) D426V probably damaging Het
Knop1 A C 7: 118,452,557 (GRCm39) V54G probably damaging Het
Lnx2 A G 5: 146,961,160 (GRCm39) probably null Het
Lrp5 A T 19: 3,652,333 (GRCm39) V1179E probably benign Het
Lrpprc T G 17: 85,047,598 (GRCm39) D878A possibly damaging Het
Lrrc14 A T 15: 76,599,510 (GRCm39) probably benign Het
Ltbp1 A T 17: 75,580,865 (GRCm39) D660V probably damaging Het
Macf1 C G 4: 123,333,229 (GRCm39) probably null Het
Map3k21 C A 8: 126,668,499 (GRCm39) T695K possibly damaging Het
Mcm3ap T A 10: 76,324,253 (GRCm39) D895E possibly damaging Het
Mink1 T A 11: 70,500,412 (GRCm39) D779E possibly damaging Het
Mkrn3 T C 7: 62,069,467 (GRCm39) E108G probably damaging Het
Mtcl3 T C 10: 29,019,644 (GRCm39) probably benign Het
Nars1 A G 18: 64,643,556 (GRCm39) V141A possibly damaging Het
Or8g34 T C 9: 39,373,633 (GRCm39) V299A probably benign Het
Pard3b T A 1: 62,255,690 (GRCm39) Y572N probably benign Het
Pcnx3 A C 19: 5,717,186 (GRCm39) M1599R possibly damaging Het
Pitx2 A G 3: 129,012,169 (GRCm39) S180G probably damaging Het
Pkd2l1 A C 19: 44,140,529 (GRCm39) V608G probably benign Het
Pkhd1l1 A G 15: 44,396,361 (GRCm39) D1961G probably benign Het
Pxylp1 T C 9: 96,721,179 (GRCm39) T109A probably damaging Het
Rai1 T A 11: 60,078,419 (GRCm39) C828S probably damaging Het
Ralgapa1 T A 12: 55,785,050 (GRCm39) T737S possibly damaging Het
Scn11a A G 9: 119,640,190 (GRCm39) V235A probably damaging Het
Sfxn1 A T 13: 54,245,306 (GRCm39) T134S probably benign Het
Skint1 A G 4: 111,876,532 (GRCm39) Y151C probably benign Het
Slc11a1 G T 1: 74,416,335 (GRCm39) W54L probably benign Het
Slc49a3 A T 5: 108,593,351 (GRCm39) H162Q probably damaging Het
Synpo2l T A 14: 20,716,003 (GRCm39) Q191L probably benign Het
Tank A G 2: 61,483,913 (GRCm39) probably benign Het
Terb1 A T 8: 105,215,117 (GRCm39) probably null Het
Trdc T C 14: 54,381,768 (GRCm39) probably benign Het
Tsen34 A G 7: 3,697,787 (GRCm39) I63V probably null Het
Ust T C 10: 8,123,865 (GRCm39) H257R probably benign Het
Vmn2r6 T C 3: 64,472,652 (GRCm39) Q23R probably benign Het
Wdr93 A T 7: 79,423,179 (GRCm39) H481L probably damaging Het
Xirp2 A G 2: 67,341,664 (GRCm39) T1302A possibly damaging Het
Zc3h6 C A 2: 128,839,710 (GRCm39) Y174* probably null Het
Zcchc7 T G 4: 44,931,244 (GRCm39) D144E possibly damaging Het
Zfp472 T A 17: 33,196,481 (GRCm39) H185Q possibly damaging Het
Zfp523 C A 17: 28,421,532 (GRCm39) P66H probably benign Het
Zfp712 A T 13: 67,192,881 (GRCm39) L57Q probably damaging Het
Zik1 G A 7: 10,224,498 (GRCm39) Q200* probably null 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
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
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'- TATGTTAAGTGGGACTCCTGC -3'
(R):5'- TTGCTAAGAGGGAGCCTGTG -3'

Sequencing Primer
(F):5'- ACTCCTGCCCGATGTATGG -3'
(R):5'- AGCCTGTGGAACTGCAGTG -3'
Posted On 2017-03-31