Incidental Mutation 'R7678:Plxna1'
ID 592577
Institutional Source Beutler Lab
Gene Symbol Plxna1
Ensembl Gene ENSMUSG00000030084
Gene Name plexin A1
Synonyms NOV, PlexA1, Plxn1, 2600013D04Rik
MMRRC Submission 045745-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R7678 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 89293295-89339595 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89308882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 1199 (V1199M)
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: V1199M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063066
Gene: ENSMUSG00000030084
AA Change: V1199M

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: V1199M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131840
Gene: ENSMUSG00000030084
AA Change: V1199M

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: ENSMUST00000205121
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (67/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 C A 5: 8,137,750 (GRCm39) probably null Het
Ank1 A G 8: 23,607,074 (GRCm39) D1325G probably damaging Het
Asxl1 T C 2: 153,242,572 (GRCm39) S1042P probably damaging Het
Bpifb1 C T 2: 154,044,649 (GRCm39) H39Y possibly damaging Het
Capn13 C A 17: 73,622,300 (GRCm39) M663I probably damaging Het
Cemip2 C A 19: 21,775,480 (GRCm39) T241K probably damaging Het
Clec2g A G 6: 128,956,400 (GRCm39) E72G probably damaging Het
Col12a1 T A 9: 79,558,768 (GRCm39) Y1899F probably damaging Het
Ctbp2 A G 7: 132,616,353 (GRCm39) V194A probably benign Het
Cttnbp2 G T 6: 18,382,809 (GRCm39) L1320I probably damaging Het
E2f2 T A 4: 135,920,137 (GRCm39) L374* probably null Het
Echdc3 C T 2: 6,217,687 (GRCm39) G29S probably benign Het
Ecm1 A G 3: 95,643,494 (GRCm39) S269P probably damaging Het
Elmo2 G A 2: 165,133,664 (GRCm39) P775S unknown Het
Eno3 T A 11: 70,549,993 (GRCm39) probably null Het
Faf1 G A 4: 109,687,061 (GRCm39) R267K probably benign Het
Fam162a G A 16: 35,870,307 (GRCm39) probably benign Het
Fam178b T A 1: 36,603,532 (GRCm39) D473V probably damaging Het
Fat2 G A 11: 55,173,156 (GRCm39) T2519I probably damaging Het
Foxc2 A G 8: 121,844,834 (GRCm39) Y494C probably damaging Het
Gcnt2 C A 13: 41,107,195 (GRCm39) Q355K probably benign Het
Glg1 G T 8: 111,905,497 (GRCm39) H595N probably benign Het
Gm9913 A T 2: 125,348,480 (GRCm39) H97L unknown Het
Hbegf T A 18: 36,640,601 (GRCm39) N152I possibly damaging Het
Hipk1 G A 3: 103,667,866 (GRCm39) T567I probably damaging Het
Idh3a C T 9: 54,502,453 (GRCm39) P78S probably damaging Het
Igsf10 A T 3: 59,226,761 (GRCm39) M2304K possibly damaging Het
Inf2 A G 12: 112,573,428 (GRCm39) T723A unknown Het
Itpr2 A T 6: 146,089,048 (GRCm39) F2220Y probably benign Het
Kpnb1 C T 11: 97,059,999 (GRCm39) R557Q probably damaging Het
Lefty1 A G 1: 180,764,325 (GRCm39) D155G probably damaging Het
Lrp1 A G 10: 127,409,922 (GRCm39) C1554R probably damaging Het
Lrrc10 A G 10: 116,881,662 (GRCm39) D112G probably benign Het
Med12l A G 3: 58,984,141 (GRCm39) E439G probably damaging Het
Ms4a7 A T 19: 11,301,868 (GRCm39) F185Y probably benign Het
Mtmr6 T A 14: 60,527,101 (GRCm39) M234K probably damaging Het
Myh7b C A 2: 155,459,698 (GRCm39) probably null Het
Myo1d T C 11: 80,567,719 (GRCm39) M254V possibly damaging Het
Nbas T C 12: 13,465,662 (GRCm39) V1368A probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Neb A G 2: 52,096,714 (GRCm39) V4999A probably damaging Het
Npbwr1 G T 1: 5,986,927 (GRCm39) Q196K probably benign Het
Nsd3 A T 8: 26,149,833 (GRCm39) E339D possibly damaging Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Or11g1 T C 14: 50,651,471 (GRCm39) F157L probably damaging Het
Or6c206 A G 10: 129,096,937 (GRCm39) S36G probably damaging Het
Or7d11 T C 9: 19,965,901 (GRCm39) N168S probably damaging Het
Ppfibp2 T A 7: 107,315,873 (GRCm39) M285K probably damaging Het
Ppip5k1 A G 2: 121,168,142 (GRCm39) Y704H probably damaging Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Sbspon T C 1: 15,929,282 (GRCm39) M170V probably benign Het
Scfd2 A C 5: 74,619,297 (GRCm39) F440V probably benign Het
Slc22a19 T A 19: 7,688,302 (GRCm39) D86V possibly damaging Het
Smg5 A G 3: 88,261,202 (GRCm39) N685S possibly damaging Het
Spata46 A G 1: 170,139,333 (GRCm39) R111G possibly damaging Het
Sry A T Y: 2,663,248 (GRCm39) D137E possibly damaging Het
Tbkbp1 T C 11: 97,040,309 (GRCm39) D35G probably damaging Het
Tcf20 A T 15: 82,735,766 (GRCm39) V1895D possibly damaging Het
Tfap4 G T 16: 4,369,630 (GRCm39) Q112K possibly damaging Het
Trmt10c T A 16: 55,855,302 (GRCm39) D111V probably benign Het
Unc80 T C 1: 66,688,881 (GRCm39) I2415T probably benign Het
Vmn2r107 A T 17: 20,576,901 (GRCm39) M300L probably benign Het
Vmn2r5 A T 3: 64,416,943 (GRCm39) F72I probably benign Het
Vmn2r53 T A 7: 12,332,425 (GRCm39) H408L probably benign Het
Zan C T 5: 137,461,802 (GRCm39) V1126M unknown Het
Zfp493 A T 13: 67,927,814 (GRCm39) probably benign Het
Zfp618 C A 4: 63,004,858 (GRCm39) A86E 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
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
R8782:Plxna1 UTSW 6 89,300,220 (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'- GCTCCATGGGGATTTTCTCAGAG -3'
(R):5'- GCTCATCCTCAAGGTAGGTCTC -3'

Sequencing Primer
(F):5'- CTCAGAGGTGGGGTTGCTCTAG -3'
(R):5'- TCAAGGTAGGTCTCAGCCACTG -3'
Posted On 2019-11-12