Incidental Mutation 'R7024:Plxna4'
ID 545834
Institutional Source Beutler Lab
Gene Symbol Plxna4
Ensembl Gene ENSMUSG00000029765
Gene Name plexin A4
Synonyms Plxa4
MMRRC Submission 045125-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.600) question?
Stock # R7024 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 32121478-32565127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32169204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 1331 (H1331L)
Ref Sequence ENSEMBL: ENSMUSP00000110748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115096]
AlphaFold Q80UG2
Predicted Effect probably damaging
Transcript: ENSMUST00000115096
AA Change: H1331L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110748
Gene: ENSMUSG00000029765
AA Change: H1331L

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: 98.9%
Validation Efficiency 97% (61/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A G 16: 88,424,108 (GRCm39) S128P probably damaging Het
Abcc1 G C 16: 14,231,247 (GRCm39) probably null Het
Atg2a G A 19: 6,300,249 (GRCm39) G686S possibly damaging Het
Atrnl1 A T 19: 57,626,882 (GRCm39) probably null Het
Brd4 T C 17: 32,440,884 (GRCm39) probably benign Het
Camsap3 A G 8: 3,658,242 (GRCm39) E688G probably damaging Het
Cc2d2a T A 5: 43,891,271 (GRCm39) S1402R probably benign Het
Ccnb1 A G 13: 100,922,888 (GRCm39) probably null Het
Cdc42bpb G A 12: 111,292,519 (GRCm39) H339Y probably damaging Het
Ciart T A 3: 95,786,392 (GRCm39) T94S probably benign Het
Col6a5 T A 9: 105,789,674 (GRCm39) K1540* probably null Het
Csmd3 A T 15: 47,574,387 (GRCm39) V1969E probably damaging Het
Dgka T G 10: 128,556,356 (GRCm39) N710T probably damaging Het
Dock6 A G 9: 21,731,666 (GRCm39) V1212A probably benign Het
Dync2i2 A G 2: 29,928,278 (GRCm39) V116A possibly damaging Het
En1 C T 1: 120,531,051 (GRCm39) P97L unknown Het
Esd T A 14: 74,982,102 (GRCm39) F172L probably damaging Het
Gfer C A 17: 24,914,942 (GRCm39) D34Y probably damaging Het
Gm2832 G A 14: 41,001,696 (GRCm39) M68I Het
Hmgcr A G 13: 96,795,418 (GRCm39) S384P probably benign Het
Hsp90aa1 T C 12: 110,660,546 (GRCm39) T299A possibly damaging Het
Igsf10 A G 3: 59,239,122 (GRCm39) M353T probably benign Het
Ino80b T C 6: 83,099,306 (GRCm39) T211A probably benign Het
Lamb2 C A 9: 108,366,687 (GRCm39) T1607K probably benign Het
Lhfpl5 A G 17: 28,801,957 (GRCm39) E218G probably benign Het
Lpo C A 11: 87,707,269 (GRCm39) C248F probably damaging Het
Lrrc3 C T 10: 77,736,825 (GRCm39) D204N probably damaging Het
Mavs C A 2: 131,085,051 (GRCm39) L160I probably benign Het
Morn4 C T 19: 42,066,483 (GRCm39) D35N possibly damaging Het
Mroh8 G A 2: 157,063,183 (GRCm39) H813Y probably benign Het
Myf6 T C 10: 107,330,390 (GRCm39) E59G probably damaging Het
Nhsl3 T A 4: 129,119,201 (GRCm39) E173V probably null Het
Nlrp10 T A 7: 108,524,405 (GRCm39) E358D possibly damaging Het
Odad2 A C 18: 7,211,593 (GRCm39) D760E probably benign Het
Optn T C 2: 5,057,648 (GRCm39) probably null Het
Or12e8 A G 2: 87,188,066 (GRCm39) T93A probably benign Het
Or13a19 T C 7: 139,902,759 (GRCm39) I49T possibly damaging Het
Or1e1d-ps1 T A 11: 73,819,332 (GRCm39) L94* probably null Het
Or1o1 T C 17: 37,717,095 (GRCm39) F219L probably benign Het
Or5g9 T A 2: 85,551,952 (GRCm39) F68I probably damaging Het
Or7g28 T C 9: 19,272,579 (GRCm39) E24G possibly damaging Het
Poli A T 18: 70,649,920 (GRCm39) M357K possibly damaging Het
Psd4 T G 2: 24,284,555 (GRCm39) C140G possibly damaging Het
Rab3gap1 T A 1: 127,818,835 (GRCm39) probably null Het
Rasa3 T C 8: 13,681,826 (GRCm39) N41S probably benign Het
Rps6kc1 A G 1: 190,532,407 (GRCm39) S532P probably benign Het
S100a3 T A 3: 90,509,747 (GRCm39) probably null Het
Sfrp5 T C 19: 42,190,204 (GRCm39) K83E possibly damaging Het
Slco1a4 T C 6: 141,780,434 (GRCm39) I119V probably benign Het
Snx15 T A 19: 6,170,626 (GRCm39) Q271L probably damaging Het
Sorcs2 C A 5: 36,178,605 (GRCm39) S1128I probably damaging Het
Tbc1d7 A T 13: 43,308,211 (GRCm39) F85I probably damaging Het
Thoc7 A G 14: 13,953,528 (GRCm38) Y46H probably damaging Het
Top1mt T A 15: 75,539,297 (GRCm39) Y366F probably damaging Het
Trpv2 C A 11: 62,475,287 (GRCm39) S233R probably benign Het
Vav1 C A 17: 57,586,268 (GRCm39) T24N probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdfy4 G T 14: 32,686,583 (GRCm39) probably null Het
Wdr3 A G 3: 100,062,313 (GRCm39) S201P probably benign Het
Wfs1 C T 5: 37,124,294 (GRCm39) D866N probably damaging Het
Wnk1 A T 6: 119,942,687 (GRCm39) probably benign Het
Xpot G T 10: 121,438,304 (GRCm39) Q762K probably benign Het
Zfp287 A T 11: 62,605,764 (GRCm39) L370H 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
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
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'- CCACATTAGTGTTTATAAGCTGGGG -3'
(R):5'- GAGGAGTAACCCTTAGGCTAGC -3'

Sequencing Primer
(F):5'- GGAACCTCAGGCAAGATGTG -3'
(R):5'- ATGGCCTCAATGCTAGGATC -3'
Posted On 2019-05-13