Incidental Mutation 'R7516:Plxna4'
ID 582451
Institutional Source Beutler Lab
Gene Symbol Plxna4
Ensembl Gene ENSMUSG00000029765
Gene Name plexin A4
Synonyms Plxa4
MMRRC Submission 045589-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.600) question?
Stock # R7516 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 32121478-32565127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32214703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 593 (T593A)
Ref Sequence ENSEMBL: ENSMUSP00000110748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115096]
AlphaFold Q80UG2
Predicted Effect probably benign
Transcript: ENSMUST00000115096
AA Change: T593A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000110748
Gene: ENSMUSG00000029765
AA Change: T593A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 T A 14: 68,868,125 (GRCm39) I407F probably damaging Het
Agbl1 A G 7: 76,075,669 (GRCm39) Y437C probably damaging Het
Alkbh5 T C 11: 60,429,979 (GRCm39) V244A probably damaging Het
Arap1 T C 7: 101,058,538 (GRCm39) F1390L probably benign Het
Asph T C 4: 9,630,940 (GRCm39) D136G possibly damaging Het
Atp8a2 A T 14: 60,094,516 (GRCm39) Y841N probably damaging Het
Cald1 A T 6: 34,686,492 (GRCm39) probably benign Het
Capn11 A G 17: 45,949,766 (GRCm39) I400T possibly damaging Het
Cdh18 T A 15: 23,259,684 (GRCm39) probably null Het
Ces2h T A 8: 105,743,458 (GRCm39) L204Q probably damaging Het
Chrna3 G A 9: 54,922,653 (GRCm39) A385V probably benign Het
Clca4a A T 3: 144,672,009 (GRCm39) L311Q probably damaging Het
Clip1 A G 5: 123,721,448 (GRCm39) V1149A probably benign Het
Clip3 T A 7: 29,998,268 (GRCm39) V238D possibly damaging Het
Col12a1 A G 9: 79,520,192 (GRCm39) probably null Het
Coro2a A G 4: 46,562,992 (GRCm39) V54A probably benign Het
Crem T C 18: 3,299,141 (GRCm39) probably null Het
Dennd5b T C 6: 148,969,878 (GRCm39) I192V probably benign Het
Dst A G 1: 34,209,560 (GRCm39) N1209S probably benign Het
Ero1a T A 14: 45,525,480 (GRCm39) M385L probably benign Het
Fam13a A T 6: 58,932,248 (GRCm39) V375D probably damaging Het
Fgfbp3 T A 19: 36,896,324 (GRCm39) Y98F possibly damaging Het
Frem3 T C 8: 81,338,712 (GRCm39) V335A probably damaging Het
Gm19410 T A 8: 36,263,433 (GRCm39) D951E probably benign Het
Gpatch1 T C 7: 35,007,625 (GRCm39) D145G probably benign Het
H60c G T 10: 3,209,746 (GRCm39) C180* probably null Het
Hmcn1 T C 1: 150,498,718 (GRCm39) T4054A probably benign Het
Hrg A G 16: 22,780,048 (GRCm39) Y442C unknown Het
Hspg2 C T 4: 137,269,931 (GRCm39) R2327C possibly damaging Het
Klhl31 G T 9: 77,558,429 (GRCm39) A382S probably damaging Het
Knl1 T C 2: 118,901,179 (GRCm39) V960A probably damaging Het
Lztr1 C T 16: 17,327,525 (GRCm39) A76V possibly damaging Het
Me3 G T 7: 89,497,183 (GRCm39) E395* probably null Het
Morc2b G A 17: 33,356,435 (GRCm39) H446Y probably benign Het
Mroh7 A T 4: 106,548,316 (GRCm39) M1054K probably benign Het
Ms4a6b T C 19: 11,506,907 (GRCm39) V232A probably benign Het
Nmt2 C A 2: 3,313,767 (GRCm39) D224E probably damaging Het
Nox4 C A 7: 86,970,905 (GRCm39) R261S probably benign Het
Obscn T A 11: 59,015,416 (GRCm39) K1019* probably null Het
Or4a15 T A 2: 89,193,719 (GRCm39) N18I probably benign Het
Or4g7 T A 2: 111,309,282 (GRCm39) V51D probably benign Het
Or5p67 G A 7: 107,922,223 (GRCm39) S220F probably damaging Het
Or8k24 C T 2: 86,216,328 (GRCm39) V145I probably benign Het
Pcdha11 A T 18: 37,144,671 (GRCm39) N254I probably damaging Het
Pck2 T A 14: 55,779,913 (GRCm39) I54N probably benign Het
Pkd1l3 T A 8: 110,361,861 (GRCm39) W978R probably damaging Het
Podn G A 4: 107,879,321 (GRCm39) R266W probably damaging Het
Ptpn22 A G 3: 103,792,854 (GRCm39) D335G probably benign Het
Pxn A G 5: 115,644,922 (GRCm39) D3G unknown Het
Rapgefl1 T G 11: 98,736,960 (GRCm39) V320G probably benign Het
Rel A G 11: 23,692,785 (GRCm39) I416T probably benign Het
Sema5b A G 16: 35,471,540 (GRCm39) N378D probably benign Het
Sh3bp4 C A 1: 89,073,368 (GRCm39) L739M probably damaging Het
Skint2 A T 4: 112,483,168 (GRCm39) D191V probably damaging Het
Slc3a1 T C 17: 85,371,190 (GRCm39) Y581H probably damaging Het
Smcr8 G T 11: 60,670,814 (GRCm39) C654F probably benign Het
Spta1 A C 1: 174,025,349 (GRCm39) Q738P probably damaging Het
Sptlc3 C A 2: 139,431,438 (GRCm39) A320D probably benign Het
Thnsl2 T A 6: 71,108,990 (GRCm39) K274* probably null Het
Tmed2 T A 5: 124,685,055 (GRCm39) I68K possibly damaging Het
Tmtc4 G A 14: 123,180,735 (GRCm39) A326V possibly damaging Het
Tnks2 T A 19: 36,849,064 (GRCm39) S179T possibly damaging Het
Trim34b G T 7: 103,978,918 (GRCm39) C55F probably damaging Het
Trpm4 T A 7: 44,954,444 (GRCm39) E1129V probably damaging Het
Tvp23b T C 11: 62,782,867 (GRCm39) S188P possibly damaging Het
Usp1 A G 4: 98,822,356 (GRCm39) T557A probably damaging Het
Vmn2r66 C T 7: 84,661,176 (GRCm39) C18Y possibly damaging Het
Vmn2r85 T A 10: 130,254,852 (GRCm39) T611S probably damaging Het
Vps13c T C 9: 67,862,289 (GRCm39) S2969P possibly damaging Het
Wdr74 T A 19: 8,713,554 (GRCm39) C62* probably null Het
Wfikkn1 A T 17: 26,097,020 (GRCm39) C435S probably damaging Het
Zbtb45 A T 7: 12,740,269 (GRCm39) F449I probably 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
R0308:Plxna4 UTSW 6 32,214,703 (GRCm39) missense probably benign 0.01
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
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'- TCTGCTACCCAGGCACAATG -3'
(R):5'- TCCAAGTAGGTTTCTTGAGTCTC -3'

Sequencing Primer
(F):5'- TGAAAAGTCTGCCACCCAACTTTG -3'
(R):5'- GCACTCTTGTAACAAGCTGG -3'
Posted On 2019-10-17