Incidental Mutation 'R8782:Plxna1'
ID 670321
Institutional Source Beutler Lab
Gene Symbol Plxna1
Ensembl Gene ENSMUSG00000030084
Gene Name plexin A1
Synonyms NOV, PlexA1, Plxn1, 2600013D04Rik
MMRRC Submission 068630-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.888) question?
Stock # R8782 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 89293295-89339595 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89300220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1621 (Y1621C)
Ref Sequence ENSEMBL: ENSMUSP00000063066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049845] [ENSMUST00000163139]
AlphaFold P70206
PDB Structure The Plexin A1 intracellular region in complex with Rac1 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000049845
AA Change: Y1621C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063066
Gene: ENSMUSG00000030084
AA Change: Y1621C

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Sema 49 494 7.43e-126 SMART
PSI 512 562 6.4e-11 SMART
PSI 658 705 9.78e-7 SMART
low complexity region 759 772 N/A INTRINSIC
PSI 806 860 7.24e-10 SMART
IPT 861 957 3.2e-26 SMART
IPT 958 1043 1.59e-21 SMART
IPT 1045 1145 6.86e-26 SMART
IPT 1147 1242 1.64e-5 SMART
transmembrane domain 1243 1265 N/A INTRINSIC
Pfam:Plexin_cytopl 1316 1864 8.8e-263 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163139
AA Change: Y1621C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131840
Gene: ENSMUSG00000030084
AA Change: Y1621C

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Sema 49 494 7.43e-126 SMART
PSI 512 562 6.4e-11 SMART
PSI 658 705 9.78e-7 SMART
low complexity region 759 772 N/A INTRINSIC
PSI 806 860 7.24e-10 SMART
IPT 861 957 3.2e-26 SMART
IPT 958 1043 1.59e-21 SMART
IPT 1045 1145 6.86e-26 SMART
IPT 1147 1242 1.64e-5 SMART
transmembrane domain 1243 1265 N/A INTRINSIC
Pfam:Plexin_cytopl 1315 1864 2.5e-264 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204468
Meta Mutation Damage Score 0.9599 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (73/74)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit bone cellularity abnormalities, altered dendritic cell physiology, abnormal proprioceptive and oligodendrocyte morphology, and increased lymphatic branching complexity and LEC numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A G 9: 55,910,242 (GRCm39) probably null Het
Abhd16b G T 2: 181,136,208 (GRCm39) R370L probably benign Het
Acox2 T A 14: 8,250,035 (GRCm38) T342S probably damaging Het
Adamts12 A T 15: 11,237,678 (GRCm39) Q329L probably damaging Het
Aimp1 T C 3: 132,373,242 (GRCm39) M233V possibly damaging Het
Atg16l1 A G 1: 87,714,010 (GRCm39) T474A possibly damaging Het
Atp1a1 T C 3: 101,501,533 (GRCm39) T57A possibly damaging Het
Bcat2 A G 7: 45,234,917 (GRCm39) D205G probably benign Het
Brd1 G T 15: 88,614,834 (GRCm39) C20* probably null Het
Camsap2 T C 1: 136,204,957 (GRCm39) M519V Het
Caprin1 T A 2: 103,603,133 (GRCm39) T477S probably benign Het
Cdk5rap2 G T 4: 70,161,712 (GRCm39) Q1516K possibly damaging Het
Cep97 T C 16: 55,726,084 (GRCm39) D673G probably benign Het
Chat A T 14: 32,146,155 (GRCm39) D339E probably benign Het
Col28a1 G A 6: 8,175,227 (GRCm39) S207F unknown Het
Commd10 T A 18: 47,096,809 (GRCm39) L72Q probably damaging Het
Crim1 T C 17: 78,508,306 (GRCm39) C37R probably damaging Het
Csgalnact1 T A 8: 68,811,307 (GRCm39) K454N probably damaging Het
Ctif G T 18: 75,654,868 (GRCm39) H219Q probably benign Het
Ddx10 A T 9: 53,146,588 (GRCm39) F211L probably damaging Het
Dhrs2 A T 14: 55,473,538 (GRCm39) I66F possibly damaging Het
Dmtf1 A T 5: 9,179,168 (GRCm39) D343E probably damaging Het
Dync2i1 C T 12: 116,205,332 (GRCm39) R419H probably damaging Het
Fam120b A T 17: 15,622,472 (GRCm39) Q150L probably damaging Het
Fam217a G A 13: 35,095,033 (GRCm39) P242L probably benign Het
Gcnt2 A G 13: 41,072,229 (GRCm39) T291A probably damaging Het
Gm14305 T G 2: 176,413,213 (GRCm39) C368W possibly damaging Het
Gpr158 A G 2: 21,404,149 (GRCm39) D307G probably damaging Het
Hcls1 A G 16: 36,777,663 (GRCm39) M261V probably benign Het
Hmcn1 A G 1: 150,540,636 (GRCm39) M2891T probably benign Het
Ighv1-31 A T 12: 114,793,305 (GRCm39) W5R possibly damaging Het
Impg2 A G 16: 56,079,818 (GRCm39) T541A probably damaging Het
Ints1 A T 5: 139,744,952 (GRCm39) L1452Q probably benign Het
Kcnc2 T A 10: 112,292,437 (GRCm39) S542T probably benign Het
Kif18a C T 2: 109,127,118 (GRCm39) R351C probably damaging Het
Lactbl1 T G 4: 136,358,329 (GRCm39) L100R possibly damaging Het
Loxl3 T C 6: 83,025,051 (GRCm39) S260P probably benign Het
Lrba A T 3: 86,549,976 (GRCm39) Y2315F probably benign Het
Lrrc32 A T 7: 98,148,270 (GRCm39) N350I probably damaging Het
Lyn C A 4: 3,783,055 (GRCm39) F429L probably damaging Het
Matk A G 10: 81,098,294 (GRCm39) K402E probably damaging Het
Mau2 T C 8: 70,485,845 (GRCm39) E121G possibly damaging Het
Mrgprx2 A G 7: 48,132,299 (GRCm39) L173P probably damaging Het
Mroh1 A G 15: 76,298,496 (GRCm39) T369A possibly damaging Het
Myh6 A G 14: 55,187,357 (GRCm39) L1308P possibly damaging Het
Nbeal2 T C 9: 110,459,873 (GRCm39) D1895G probably benign Het
Ncr1 A G 7: 4,340,763 (GRCm39) T6A probably benign Het
Neb T A 2: 52,078,785 (GRCm39) E5819D probably benign Het
Neurod4 T C 10: 130,106,948 (GRCm39) N109D probably damaging Het
Nsd2 A T 5: 34,000,485 (GRCm39) M1L probably benign Het
Nwd2 A G 5: 63,882,540 (GRCm39) Y64C probably damaging Het
Olfm2 T A 9: 20,579,501 (GRCm39) N417Y probably damaging Het
Oog3 T A 4: 143,885,962 (GRCm39) D212V probably benign Het
Or13c25 T A 4: 52,911,693 (GRCm39) M34L probably benign Het
Or5p1 A T 7: 107,916,296 (GRCm39) H65L probably damaging Het
Parp1 A G 1: 180,417,127 (GRCm39) K637R probably benign Het
Pcdhga3 T C 18: 37,807,865 (GRCm39) L106P probably damaging Het
Pdk4 T C 6: 5,494,962 (GRCm39) N67S possibly damaging Het
Plcxd3 A G 15: 4,546,250 (GRCm39) T85A probably benign Het
Pnliprp1 T A 19: 58,719,025 (GRCm39) M108K probably damaging Het
Pou3f1 GCACCACCACCACCACCAC GCACCACCACCACCAC 4: 124,552,807 (GRCm39) probably benign Het
Prl8a1 A T 13: 27,758,011 (GRCm39) C233S probably damaging Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Sgo2a T A 1: 58,056,616 (GRCm39) probably benign Het
Sh3tc1 A T 5: 35,871,548 (GRCm39) M328K possibly damaging Het
Sim1 A G 10: 50,772,165 (GRCm39) E58G probably benign Het
Slc35e3 A G 10: 117,580,798 (GRCm39) Y169H probably damaging Het
Slc8a1 T C 17: 81,955,442 (GRCm39) D532G probably damaging Het
Speer4a1 T A 5: 26,241,754 (GRCm39) H124L probably benign Het
Stab2 T A 10: 86,735,685 (GRCm39) T1299S probably benign Het
Tesmin T C 19: 3,445,965 (GRCm39) V237A probably benign Het
Trappc11 A T 8: 47,951,701 (GRCm39) I984N probably benign Het
Ube2q2 G A 9: 55,070,354 (GRCm39) probably null Het
Vmn1r169 A G 7: 23,277,403 (GRCm39) D265G possibly damaging Het
Vps13b G T 15: 35,422,483 (GRCm39) V148L possibly damaging Het
Vwce T C 19: 10,615,491 (GRCm39) V124A probably benign Het
Zc3h15 G A 2: 83,491,787 (GRCm39) R292H probably benign Het
Other mutations in Plxna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Plxna1 APN 6 89,297,980 (GRCm39) missense probably damaging 1.00
IGL01358:Plxna1 APN 6 89,299,732 (GRCm39) missense probably damaging 1.00
IGL01475:Plxna1 APN 6 89,331,870 (GRCm39) missense possibly damaging 0.92
IGL01480:Plxna1 APN 6 89,321,078 (GRCm39) missense possibly damaging 0.70
IGL01585:Plxna1 APN 6 89,306,538 (GRCm39) critical splice donor site probably null
IGL01804:Plxna1 APN 6 89,306,628 (GRCm39) missense probably damaging 1.00
IGL01909:Plxna1 APN 6 89,309,066 (GRCm39) critical splice donor site probably null
IGL01989:Plxna1 APN 6 89,306,396 (GRCm39) nonsense probably null
IGL02015:Plxna1 APN 6 89,319,433 (GRCm39) missense probably damaging 1.00
IGL02023:Plxna1 APN 6 89,334,314 (GRCm39) missense possibly damaging 0.88
IGL02668:Plxna1 APN 6 89,334,251 (GRCm39) nonsense probably null
IGL02703:Plxna1 APN 6 89,333,925 (GRCm39) missense probably damaging 1.00
IGL02954:Plxna1 APN 6 89,301,649 (GRCm39) missense probably damaging 1.00
IGL03212:Plxna1 APN 6 89,308,885 (GRCm39) missense probably damaging 1.00
PIT4544001:Plxna1 UTSW 6 89,334,411 (GRCm39) missense probably benign 0.14
R0055:Plxna1 UTSW 6 89,306,721 (GRCm39) missense possibly damaging 0.94
R0055:Plxna1 UTSW 6 89,306,721 (GRCm39) missense possibly damaging 0.94
R0147:Plxna1 UTSW 6 89,297,692 (GRCm39) missense possibly damaging 0.95
R0149:Plxna1 UTSW 6 89,297,595 (GRCm39) missense probably null 0.95
R0166:Plxna1 UTSW 6 89,310,001 (GRCm39) missense probably damaging 1.00
R0200:Plxna1 UTSW 6 89,300,575 (GRCm39) missense probably damaging 1.00
R0415:Plxna1 UTSW 6 89,334,318 (GRCm39) missense probably benign 0.12
R0841:Plxna1 UTSW 6 89,309,186 (GRCm39) missense probably damaging 1.00
R1018:Plxna1 UTSW 6 89,319,942 (GRCm39) missense probably damaging 1.00
R1240:Plxna1 UTSW 6 89,298,032 (GRCm39) missense probably damaging 1.00
R1355:Plxna1 UTSW 6 89,297,748 (GRCm39) unclassified probably benign
R1700:Plxna1 UTSW 6 89,333,990 (GRCm39) missense probably damaging 1.00
R1776:Plxna1 UTSW 6 89,312,446 (GRCm39) missense probably benign 0.00
R1957:Plxna1 UTSW 6 89,308,273 (GRCm39) missense probably damaging 1.00
R2314:Plxna1 UTSW 6 89,301,298 (GRCm39) missense probably damaging 1.00
R2968:Plxna1 UTSW 6 89,319,590 (GRCm39) missense probably damaging 1.00
R3118:Plxna1 UTSW 6 89,333,958 (GRCm39) missense possibly damaging 0.89
R3522:Plxna1 UTSW 6 89,314,335 (GRCm39) critical splice acceptor site probably null
R3619:Plxna1 UTSW 6 89,334,435 (GRCm39) missense probably damaging 0.97
R3766:Plxna1 UTSW 6 89,311,757 (GRCm39) unclassified probably benign
R3847:Plxna1 UTSW 6 89,333,501 (GRCm39) missense probably damaging 1.00
R3849:Plxna1 UTSW 6 89,333,501 (GRCm39) missense probably damaging 1.00
R3872:Plxna1 UTSW 6 89,309,674 (GRCm39) nonsense probably null
R4555:Plxna1 UTSW 6 89,300,310 (GRCm39) missense probably damaging 0.99
R4709:Plxna1 UTSW 6 89,311,733 (GRCm39) missense possibly damaging 0.72
R4726:Plxna1 UTSW 6 89,299,798 (GRCm39) missense probably damaging 1.00
R4739:Plxna1 UTSW 6 89,309,657 (GRCm39) splice site probably null
R5053:Plxna1 UTSW 6 89,299,442 (GRCm39) missense probably damaging 1.00
R5221:Plxna1 UTSW 6 89,297,998 (GRCm39) missense probably damaging 1.00
R5449:Plxna1 UTSW 6 89,300,590 (GRCm39) missense probably damaging 1.00
R5480:Plxna1 UTSW 6 89,301,616 (GRCm39) missense probably damaging 1.00
R5575:Plxna1 UTSW 6 89,301,523 (GRCm39) missense possibly damaging 0.83
R5743:Plxna1 UTSW 6 89,333,511 (GRCm39) missense probably damaging 1.00
R5744:Plxna1 UTSW 6 89,311,664 (GRCm39) missense possibly damaging 0.67
R5754:Plxna1 UTSW 6 89,310,087 (GRCm39) missense possibly damaging 0.96
R5868:Plxna1 UTSW 6 89,299,704 (GRCm39) splice site probably benign
R5988:Plxna1 UTSW 6 89,334,522 (GRCm39) nonsense probably null
R6190:Plxna1 UTSW 6 89,333,586 (GRCm39) nonsense probably null
R6425:Plxna1 UTSW 6 89,311,647 (GRCm39) missense probably benign 0.00
R6561:Plxna1 UTSW 6 89,333,960 (GRCm39) missense probably damaging 1.00
R6623:Plxna1 UTSW 6 89,299,753 (GRCm39) missense probably damaging 1.00
R6638:Plxna1 UTSW 6 89,301,382 (GRCm39) missense probably damaging 0.97
R6701:Plxna1 UTSW 6 89,296,430 (GRCm39) missense probably damaging 0.99
R6825:Plxna1 UTSW 6 89,297,597 (GRCm39) missense probably benign 0.01
R6911:Plxna1 UTSW 6 89,297,956 (GRCm39) missense probably damaging 1.00
R7073:Plxna1 UTSW 6 89,334,311 (GRCm39) missense probably damaging 1.00
R7177:Plxna1 UTSW 6 89,300,311 (GRCm39) missense possibly damaging 0.50
R7235:Plxna1 UTSW 6 89,317,573 (GRCm39) missense probably damaging 0.97
R7419:Plxna1 UTSW 6 89,334,584 (GRCm39) missense unknown
R7511:Plxna1 UTSW 6 89,318,889 (GRCm39) missense possibly damaging 0.71
R7543:Plxna1 UTSW 6 89,299,837 (GRCm39) missense probably damaging 1.00
R7665:Plxna1 UTSW 6 89,301,520 (GRCm39) critical splice donor site probably null
R7678:Plxna1 UTSW 6 89,308,882 (GRCm39) missense probably damaging 0.99
R7748:Plxna1 UTSW 6 89,314,335 (GRCm39) critical splice acceptor site probably null
R7748:Plxna1 UTSW 6 89,314,334 (GRCm39) critical splice acceptor site probably null
R7877:Plxna1 UTSW 6 89,300,241 (GRCm39) missense probably damaging 0.99
R8025:Plxna1 UTSW 6 89,308,254 (GRCm39) missense probably damaging 1.00
R8171:Plxna1 UTSW 6 89,334,102 (GRCm39) missense probably benign 0.20
R8277:Plxna1 UTSW 6 89,334,162 (GRCm39) missense probably damaging 1.00
R8867:Plxna1 UTSW 6 89,310,079 (GRCm39) missense probably benign 0.00
R9245:Plxna1 UTSW 6 89,314,320 (GRCm39) missense probably damaging 1.00
R9253:Plxna1 UTSW 6 89,334,522 (GRCm39) nonsense probably null
R9269:Plxna1 UTSW 6 89,306,541 (GRCm39) missense probably null 1.00
R9273:Plxna1 UTSW 6 89,296,364 (GRCm39) missense possibly damaging 0.77
R9281:Plxna1 UTSW 6 89,300,313 (GRCm39) missense probably damaging 1.00
R9368:Plxna1 UTSW 6 89,314,138 (GRCm39) missense probably benign
R9440:Plxna1 UTSW 6 89,318,912 (GRCm39) missense probably benign 0.00
R9526:Plxna1 UTSW 6 89,319,633 (GRCm39) missense probably benign
R9601:Plxna1 UTSW 6 89,308,253 (GRCm39) missense probably damaging 1.00
R9714:Plxna1 UTSW 6 89,296,440 (GRCm39) missense probably damaging 0.99
R9782:Plxna1 UTSW 6 89,333,817 (GRCm39) missense probably benign 0.01
S24628:Plxna1 UTSW 6 89,334,318 (GRCm39) missense probably benign 0.12
V8831:Plxna1 UTSW 6 89,334,119 (GRCm39) missense probably damaging 0.99
Z1176:Plxna1 UTSW 6 89,298,034 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCCGAGGTCCCTTGTTTATAG -3'
(R):5'- GATTCAGAGTGGTGGCATGAC -3'

Sequencing Primer
(F):5'- CCGAGGTCCCTTGTTTATAGGCTATG -3'
(R):5'- CAGAACCACGGGTGTCTTTAG -3'
Posted On 2021-04-30