Incidental Mutation 'R0308:Plxna4'
ID 65371
Institutional Source Beutler Lab
Gene Symbol Plxna4
Ensembl Gene ENSMUSG00000029765
Gene Name plexin A4
Synonyms Plxa4
MMRRC Submission 038518-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.600) question?
Stock # R0308 (G1)
Quality Score 158
Status Validated
Chromosome 6
Chromosomal Location 32121478-32565127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32214703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 593 (T593S)
Ref Sequence ENSEMBL: ENSMUSP00000110748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115096]
AlphaFold Q80UG2
Predicted Effect probably benign
Transcript: ENSMUST00000115096
AA Change: T593S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000110748
Gene: ENSMUSG00000029765
AA Change: T593S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Sema 50 490 2.3e-131 SMART
PSI 508 558 2.21e-14 SMART
PSI 654 701 2.44e-7 SMART
PSI 802 855 1.2e-6 SMART
IPT 856 950 7.25e-16 SMART
IPT 952 1036 4.1e-15 SMART
IPT 1038 1138 2.86e-14 SMART
IPT 1140 1229 6.88e-1 SMART
transmembrane domain 1237 1259 N/A INTRINSIC
Pfam:Plexin_cytopl 1310 1863 1.8e-264 PFAM
Meta Mutation Damage Score 0.0694 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.1%
  • 20x: 89.5%
Validation Efficiency 100% (82/82)
MGI Phenotype PHENOTYPE: Homozygous null mice exhibit defective trajecotory and projection of peripheral sensory axons and sympathetic ganglion axons and the formation of the anterior commissure and the barrels. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,450,989 (GRCm39) D65V probably damaging Het
4933407L21Rik A T 1: 85,859,007 (GRCm39) probably benign Het
Abcc12 C T 8: 87,284,381 (GRCm39) probably benign Het
Adamts12 A G 15: 11,311,646 (GRCm39) E1301G probably damaging Het
Adh4 A T 3: 138,129,863 (GRCm39) N230Y probably damaging Het
Anapc15-ps T A 10: 95,508,954 (GRCm39) M109L probably benign Het
Angpt2 T C 8: 18,742,141 (GRCm39) I472V possibly damaging Het
Arhgef26 C A 3: 62,247,820 (GRCm39) D301E probably benign Het
Armc10 G A 5: 21,852,295 (GRCm39) probably benign Het
Atm T C 9: 53,365,773 (GRCm39) probably null Het
Atp5f1b T C 10: 127,921,908 (GRCm39) V265A probably benign Het
Atp8b1 G T 18: 64,678,315 (GRCm39) C860* probably null Het
Atrnl1 T G 19: 57,741,720 (GRCm39) S1160A probably benign Het
Bmal1 A T 7: 112,890,743 (GRCm39) I179F probably damaging Het
Cep55 A G 19: 38,048,659 (GRCm39) E105G possibly damaging Het
Cfap54 C A 10: 92,721,226 (GRCm39) D2502Y unknown Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Clptm1l A G 13: 73,759,786 (GRCm39) D282G possibly damaging Het
Csrp1 C A 1: 135,673,024 (GRCm39) T47N probably damaging Het
Cyp2c40 T A 19: 39,766,432 (GRCm39) I388F probably damaging Het
Dars1 C T 1: 128,291,996 (GRCm39) R494H probably damaging Het
Dna2 T C 10: 62,792,753 (GRCm39) V256A probably damaging Het
Dock7 T C 4: 98,873,051 (GRCm39) T1132A probably benign Het
Dpcd T G 19: 45,565,445 (GRCm39) F140V probably damaging Het
Elk3 A T 10: 93,101,067 (GRCm39) M228K probably benign Het
Erich6 A G 3: 58,543,525 (GRCm39) F182L probably damaging Het
Fhad1 A G 4: 141,712,904 (GRCm39) probably benign Het
Fryl A T 5: 73,198,947 (GRCm39) probably benign Het
Fzd9 A T 5: 135,278,260 (GRCm39) C542S probably damaging Het
Gba1 A G 3: 89,115,671 (GRCm39) T460A probably benign Het
Gli2 C T 1: 118,769,792 (GRCm39) A587T probably benign Het
Gm11011 C T 2: 169,424,614 (GRCm39) probably benign Het
Gmppb A G 9: 107,927,033 (GRCm39) E68G probably benign Het
Gpld1 A G 13: 25,146,818 (GRCm39) N260S possibly damaging Het
Hipk3 G A 2: 104,263,552 (GRCm39) S900L probably damaging Het
Idi2l T G 13: 8,990,877 (GRCm39) probably benign Het
Ints6l A T X: 55,526,715 (GRCm39) M215L possibly damaging Het
Irx6 T A 8: 93,403,659 (GRCm39) L128Q probably damaging Het
Itga10 T C 3: 96,558,780 (GRCm39) S373P probably damaging Het
Jak1 T C 4: 101,011,732 (GRCm39) probably null Het
Jak2 C T 19: 29,289,157 (GRCm39) T1103I probably benign Het
Katnal1 A T 5: 148,815,734 (GRCm39) V401D possibly damaging Het
Krbox5 A G 13: 67,991,232 (GRCm39) probably benign Het
Lrp2 T A 2: 69,313,326 (GRCm39) probably benign Het
Map3k13 A G 16: 21,710,738 (GRCm39) H7R probably benign Het
Mrgprx3-ps A G 7: 46,959,766 (GRCm39) V75A probably benign Het
Nol6 C T 4: 41,123,584 (GRCm39) A55T probably benign Het
Opa1 G A 16: 29,440,349 (GRCm39) R818Q probably damaging Het
Opn4 T C 14: 34,319,081 (GRCm39) Y168C possibly damaging Het
Or8b35 A G 9: 37,904,141 (GRCm39) I118V probably benign Het
Phf21a T C 2: 92,161,122 (GRCm39) V330A possibly damaging Het
Phykpl A G 11: 51,484,423 (GRCm39) probably benign Het
Plcb1 T G 2: 134,655,534 (GRCm39) V38G probably benign Het
Poll A T 19: 45,544,404 (GRCm39) I339N probably damaging Het
Rev3l A G 10: 39,700,890 (GRCm39) I1796V probably benign Het
Rnf103 G A 6: 71,486,686 (GRCm39) R439H probably damaging Het
Rrn3 G A 16: 13,617,746 (GRCm39) probably benign Het
Sec14l4 G A 11: 3,991,726 (GRCm39) probably benign Het
Sec23a A C 12: 59,053,985 (GRCm39) Y4* probably null Het
Senp6 T C 9: 80,040,265 (GRCm39) probably null Het
Serpinb6b A T 13: 33,162,220 (GRCm39) N221Y probably benign Het
Slc6a2 A G 8: 93,687,988 (GRCm39) E38G possibly damaging Het
Smap1 A T 1: 23,888,423 (GRCm39) L196I probably damaging Het
Sorbs2 C T 8: 46,248,167 (GRCm39) Q473* probably null Het
Sphkap C A 1: 83,254,690 (GRCm39) V1020F probably damaging Het
Srfbp1 T C 18: 52,621,614 (GRCm39) V225A probably benign Het
Srprb G A 9: 103,079,204 (GRCm39) P728S possibly damaging Het
Tarm1 T C 7: 3,545,187 (GRCm39) probably benign Het
Tcp1 T A 17: 13,139,306 (GRCm39) I162N probably benign Het
Tmem237 C A 1: 59,146,676 (GRCm39) A292S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnpo1 A G 13: 98,983,011 (GRCm39) F884L probably damaging Het
Trim7 A G 11: 48,740,328 (GRCm39) T142A probably damaging Het
Ttn T A 2: 76,616,024 (GRCm39) I14894F probably damaging Het
Tubgcp6 T C 15: 89,006,639 (GRCm39) R128G possibly damaging Het
Ube2d2b A G 5: 107,978,774 (GRCm39) T142A possibly damaging Het
Unc13c G T 9: 73,388,400 (GRCm39) L2129I probably benign Het
Ushbp1 T C 8: 71,843,697 (GRCm39) D247G probably damaging Het
Usp43 G A 11: 67,770,966 (GRCm39) A556V probably damaging Het
Zfp438 T A 18: 5,213,638 (GRCm39) H440L probably benign Het
Zfp518b C T 5: 38,830,113 (GRCm39) E631K possibly damaging Het
Other mutations in Plxna4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Plxna4 APN 6 32,139,026 (GRCm39) missense probably damaging 1.00
IGL01395:Plxna4 APN 6 32,216,368 (GRCm39) missense probably damaging 0.99
IGL01506:Plxna4 APN 6 32,493,470 (GRCm39) missense probably damaging 1.00
IGL01606:Plxna4 APN 6 32,134,936 (GRCm39) missense probably damaging 1.00
IGL01753:Plxna4 APN 6 32,287,413 (GRCm39) missense probably benign 0.06
IGL01767:Plxna4 APN 6 32,214,613 (GRCm39) missense possibly damaging 0.51
IGL01968:Plxna4 APN 6 32,192,139 (GRCm39) missense possibly damaging 0.81
IGL02109:Plxna4 APN 6 32,192,576 (GRCm39) missense probably benign
IGL02299:Plxna4 APN 6 32,142,091 (GRCm39) missense probably benign 0.01
IGL02306:Plxna4 APN 6 32,183,059 (GRCm39) missense probably benign 0.19
IGL02312:Plxna4 APN 6 32,142,052 (GRCm39) missense possibly damaging 0.79
IGL02326:Plxna4 APN 6 32,129,840 (GRCm39) missense probably damaging 0.99
IGL02658:Plxna4 APN 6 32,162,346 (GRCm39) missense probably damaging 1.00
IGL02683:Plxna4 APN 6 32,494,541 (GRCm39) missense probably benign 0.03
IGL02701:Plxna4 APN 6 32,494,494 (GRCm39) missense probably benign 0.01
IGL02995:Plxna4 APN 6 32,493,530 (GRCm39) missense probably damaging 1.00
IGL03030:Plxna4 APN 6 32,179,160 (GRCm39) missense probably benign 0.01
IGL03264:Plxna4 APN 6 32,155,337 (GRCm39) missense possibly damaging 0.64
IGL03304:Plxna4 APN 6 32,141,986 (GRCm39) splice site probably benign
IGL03382:Plxna4 APN 6 32,179,129 (GRCm39) missense probably benign 0.23
corona UTSW 6 32,494,199 (GRCm39) missense probably damaging 1.00
Disposed UTSW 6 32,493,440 (GRCm39) missense probably damaging 1.00
inclined UTSW 6 32,214,658 (GRCm39) nonsense probably null
Slope UTSW 6 32,211,541 (GRCm39) missense probably benign 0.00
G4846:Plxna4 UTSW 6 32,169,207 (GRCm39) missense probably damaging 1.00
R0133:Plxna4 UTSW 6 32,174,009 (GRCm39) missense probably benign 0.00
R0200:Plxna4 UTSW 6 32,174,023 (GRCm39) missense probably damaging 0.99
R0468:Plxna4 UTSW 6 32,192,181 (GRCm39) missense probably damaging 1.00
R0505:Plxna4 UTSW 6 32,179,054 (GRCm39) missense probably benign
R0542:Plxna4 UTSW 6 32,169,232 (GRCm39) missense probably damaging 1.00
R0548:Plxna4 UTSW 6 32,134,950 (GRCm39) missense probably damaging 1.00
R0652:Plxna4 UTSW 6 32,162,436 (GRCm39) missense probably damaging 1.00
R1144:Plxna4 UTSW 6 32,174,091 (GRCm39) missense possibly damaging 0.58
R1190:Plxna4 UTSW 6 32,228,071 (GRCm39) missense probably damaging 1.00
R1228:Plxna4 UTSW 6 32,201,087 (GRCm39) splice site probably null
R1569:Plxna4 UTSW 6 32,162,410 (GRCm39) missense possibly damaging 0.78
R1803:Plxna4 UTSW 6 32,494,379 (GRCm39) missense probably damaging 0.98
R1832:Plxna4 UTSW 6 32,174,761 (GRCm39) missense probably benign 0.01
R2068:Plxna4 UTSW 6 32,494,551 (GRCm39) missense possibly damaging 0.66
R2157:Plxna4 UTSW 6 32,493,909 (GRCm39) missense probably benign 0.00
R2842:Plxna4 UTSW 6 32,192,566 (GRCm39) critical splice donor site probably null
R2849:Plxna4 UTSW 6 32,162,467 (GRCm39) missense probably damaging 1.00
R2892:Plxna4 UTSW 6 32,493,972 (GRCm39) missense probably damaging 1.00
R2930:Plxna4 UTSW 6 32,142,715 (GRCm39) missense probably damaging 1.00
R3892:Plxna4 UTSW 6 32,192,589 (GRCm39) missense probably damaging 1.00
R4065:Plxna4 UTSW 6 32,213,300 (GRCm39) nonsense probably null
R4276:Plxna4 UTSW 6 32,177,883 (GRCm39) missense probably benign 0.29
R4307:Plxna4 UTSW 6 32,140,444 (GRCm39) missense probably damaging 0.99
R4331:Plxna4 UTSW 6 32,127,480 (GRCm39) nonsense probably null
R4478:Plxna4 UTSW 6 32,173,068 (GRCm39) missense possibly damaging 0.89
R4529:Plxna4 UTSW 6 32,473,831 (GRCm39) critical splice acceptor site probably null
R4566:Plxna4 UTSW 6 32,494,338 (GRCm39) missense probably benign 0.00
R4568:Plxna4 UTSW 6 32,129,873 (GRCm39) missense probably damaging 1.00
R4664:Plxna4 UTSW 6 32,493,885 (GRCm39) missense possibly damaging 0.88
R4685:Plxna4 UTSW 6 32,142,779 (GRCm39) missense probably damaging 1.00
R4701:Plxna4 UTSW 6 32,493,623 (GRCm39) missense probably damaging 0.99
R4939:Plxna4 UTSW 6 32,142,697 (GRCm39) missense probably damaging 1.00
R5153:Plxna4 UTSW 6 32,201,094 (GRCm39) splice site probably null
R5181:Plxna4 UTSW 6 32,493,932 (GRCm39) missense probably damaging 1.00
R5256:Plxna4 UTSW 6 32,228,007 (GRCm39) missense probably benign 0.03
R5259:Plxna4 UTSW 6 32,493,956 (GRCm39) missense possibly damaging 0.89
R5306:Plxna4 UTSW 6 32,183,056 (GRCm39) missense probably damaging 0.99
R5487:Plxna4 UTSW 6 32,494,218 (GRCm39) missense probably damaging 1.00
R5510:Plxna4 UTSW 6 32,155,293 (GRCm39) missense probably damaging 0.96
R5542:Plxna4 UTSW 6 32,183,165 (GRCm39) missense probably damaging 1.00
R5567:Plxna4 UTSW 6 32,134,915 (GRCm39) missense possibly damaging 0.61
R5634:Plxna4 UTSW 6 32,214,658 (GRCm39) nonsense probably null
R5653:Plxna4 UTSW 6 32,494,551 (GRCm39) missense possibly damaging 0.66
R5665:Plxna4 UTSW 6 32,192,657 (GRCm39) missense probably damaging 1.00
R5845:Plxna4 UTSW 6 32,214,711 (GRCm39) missense probably damaging 1.00
R5909:Plxna4 UTSW 6 32,494,181 (GRCm39) missense probably damaging 1.00
R5938:Plxna4 UTSW 6 32,211,541 (GRCm39) missense probably benign 0.00
R5973:Plxna4 UTSW 6 32,228,000 (GRCm39) splice site probably null
R6433:Plxna4 UTSW 6 32,192,613 (GRCm39) missense probably damaging 0.97
R6482:Plxna4 UTSW 6 32,493,672 (GRCm39) missense probably benign
R6560:Plxna4 UTSW 6 32,192,613 (GRCm39) missense probably damaging 0.97
R6721:Plxna4 UTSW 6 32,177,794 (GRCm39) missense probably benign 0.26
R6810:Plxna4 UTSW 6 32,287,457 (GRCm39) missense probably benign 0.18
R6985:Plxna4 UTSW 6 32,214,643 (GRCm39) missense probably damaging 1.00
R7024:Plxna4 UTSW 6 32,169,204 (GRCm39) missense probably damaging 1.00
R7046:Plxna4 UTSW 6 32,493,440 (GRCm39) missense probably damaging 1.00
R7137:Plxna4 UTSW 6 32,494,199 (GRCm39) missense probably damaging 1.00
R7163:Plxna4 UTSW 6 32,473,691 (GRCm39) missense probably benign 0.01
R7199:Plxna4 UTSW 6 32,192,113 (GRCm39) nonsense probably null
R7248:Plxna4 UTSW 6 32,139,095 (GRCm39) missense probably damaging 0.99
R7260:Plxna4 UTSW 6 32,216,455 (GRCm39) missense possibly damaging 0.79
R7361:Plxna4 UTSW 6 32,173,057 (GRCm39) critical splice donor site probably null
R7383:Plxna4 UTSW 6 32,129,734 (GRCm39) critical splice donor site probably null
R7405:Plxna4 UTSW 6 32,173,254 (GRCm39) missense probably benign 0.00
R7516:Plxna4 UTSW 6 32,214,703 (GRCm39) missense probably benign 0.00
R7635:Plxna4 UTSW 6 32,473,676 (GRCm39) missense probably damaging 0.98
R7754:Plxna4 UTSW 6 32,129,807 (GRCm39) missense probably damaging 1.00
R7763:Plxna4 UTSW 6 32,200,915 (GRCm39) missense probably damaging 0.99
R7789:Plxna4 UTSW 6 32,183,168 (GRCm39) critical splice acceptor site probably null
R8167:Plxna4 UTSW 6 32,493,981 (GRCm39) missense probably damaging 0.99
R8191:Plxna4 UTSW 6 32,493,885 (GRCm39) missense possibly damaging 0.88
R8225:Plxna4 UTSW 6 32,139,038 (GRCm39) missense probably damaging 1.00
R8284:Plxna4 UTSW 6 32,129,789 (GRCm39) missense probably benign 0.25
R8305:Plxna4 UTSW 6 32,188,000 (GRCm39) missense possibly damaging 0.81
R8438:Plxna4 UTSW 6 32,179,115 (GRCm39) missense probably damaging 1.00
R8493:Plxna4 UTSW 6 32,192,647 (GRCm39) missense probably benign 0.27
R8714:Plxna4 UTSW 6 32,140,379 (GRCm39) nonsense probably null
R8759:Plxna4 UTSW 6 32,169,276 (GRCm39) missense probably damaging 1.00
R8822:Plxna4 UTSW 6 32,127,431 (GRCm39) missense possibly damaging 0.89
R8844:Plxna4 UTSW 6 32,174,026 (GRCm39) missense probably benign 0.11
R8974:Plxna4 UTSW 6 32,216,447 (GRCm39) missense possibly damaging 0.79
R9020:Plxna4 UTSW 6 32,211,497 (GRCm39) missense possibly damaging 0.90
R9144:Plxna4 UTSW 6 32,162,496 (GRCm39) missense possibly damaging 0.77
R9206:Plxna4 UTSW 6 32,494,379 (GRCm39) missense probably damaging 0.98
R9208:Plxna4 UTSW 6 32,494,379 (GRCm39) missense probably damaging 0.98
R9257:Plxna4 UTSW 6 32,139,018 (GRCm39) missense probably damaging 0.99
R9269:Plxna4 UTSW 6 32,155,315 (GRCm39) missense probably benign 0.00
R9411:Plxna4 UTSW 6 32,159,682 (GRCm39) missense probably damaging 1.00
R9469:Plxna4 UTSW 6 32,494,526 (GRCm39) missense probably benign
R9583:Plxna4 UTSW 6 32,192,169 (GRCm39) missense possibly damaging 0.78
R9647:Plxna4 UTSW 6 32,228,044 (GRCm39) missense probably damaging 1.00
R9695:Plxna4 UTSW 6 32,183,056 (GRCm39) missense probably benign 0.02
R9801:Plxna4 UTSW 6 32,140,526 (GRCm39) critical splice acceptor site probably null
V1024:Plxna4 UTSW 6 32,211,509 (GRCm39) missense probably damaging 1.00
X0027:Plxna4 UTSW 6 32,493,979 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGCTACCCAGGCACAATGAAAAG -3'
(R):5'- GGGACCAAATCCATTCCGATCCAAG -3'

Sequencing Primer
(F):5'- AAGTCTGCCACCCAACTTTG -3'
(R):5'- GCACTCTTGTAACAAGCTGG -3'
Posted On 2013-08-08