Incidental Mutation 'R5754:Plxna1'
ID 444948
Institutional Source Beutler Lab
Gene Symbol Plxna1
Ensembl Gene ENSMUSG00000030084
Gene Name plexin A1
Synonyms NOV, PlexA1, Plxn1, 2600013D04Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.888) question?
Stock # R5754 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 89293295-89339595 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89310087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1026 (I1026N)
Ref Sequence ENSEMBL: ENSMUSP00000131840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049845] [ENSMUST00000163139]
AlphaFold P70206
Predicted Effect possibly damaging
Transcript: ENSMUST00000049845
AA Change: I1026N

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000063066
Gene: ENSMUSG00000030084
AA Change: I1026N

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 possibly damaging
Transcript: ENSMUST00000163139
AA Change: I1026N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131840
Gene: ENSMUSG00000030084
AA Change: I1026N

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 noncoding transcript
Transcript: ENSMUST00000204997
Predicted Effect probably benign
Transcript: ENSMUST00000205121
Meta Mutation Damage Score 0.8899 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (61/62)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,984,320 (GRCm39) N683K probably benign Het
Atad2b T A 12: 5,060,351 (GRCm39) H915Q probably benign Het
Bltp2 T C 11: 78,160,367 (GRCm39) S609P probably damaging Het
Camk1d G T 2: 5,449,908 (GRCm39) P91Q probably benign Het
Camk1d G C 2: 5,449,910 (GRCm39) S90R probably damaging Het
Card11 T C 5: 140,885,524 (GRCm39) E345G probably damaging Het
Ccpg1 G T 9: 72,920,526 (GRCm39) V714L possibly damaging Het
Chst9 T C 18: 15,586,254 (GRCm39) E103G possibly damaging Het
Cnga1 C T 5: 72,762,615 (GRCm39) V300I probably benign Het
Crb1 T C 1: 139,159,337 (GRCm39) Y1295C probably damaging Het
Dnah5 A G 15: 28,402,014 (GRCm39) T3392A probably benign Het
Elp3 C A 14: 65,785,439 (GRCm39) R473L probably damaging Het
Epgn T A 5: 91,181,807 (GRCm39) I145N probably benign Het
Fam107b G A 2: 3,779,457 (GRCm39) G220D probably damaging Het
Fbn2 A G 18: 58,257,383 (GRCm39) V328A probably benign Het
Fn1 A T 1: 71,639,481 (GRCm39) I1770N probably damaging Het
Fndc1 T A 17: 7,988,585 (GRCm39) Y1159F unknown Het
Frem2 A G 3: 53,444,679 (GRCm39) L2484P probably damaging Het
Grk2 C T 19: 4,340,496 (GRCm39) R295H probably damaging Het
Gtf3c1 A T 7: 125,243,237 (GRCm39) V1789D possibly damaging Het
Hmgcl T C 4: 135,677,898 (GRCm39) V33A probably damaging Het
Ighv7-1 A G 12: 113,860,239 (GRCm39) F51S probably damaging Het
Kcna6 A G 6: 126,716,688 (GRCm39) L67P probably damaging Het
Lamc1 A T 1: 153,123,030 (GRCm39) V720E probably benign Het
Lrch1 T C 14: 75,054,558 (GRCm39) D312G probably damaging Het
Mix23 A G 16: 35,905,427 (GRCm39) N63S probably benign Het
Nav2 A G 7: 49,206,794 (GRCm39) T1540A probably damaging Het
Nisch A T 14: 30,913,373 (GRCm39) probably benign Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Npc1l1 A G 11: 6,177,839 (GRCm39) Y524H probably damaging Het
Nrap T C 19: 56,377,916 (GRCm39) T25A possibly damaging Het
Nusap1 A G 2: 119,477,580 (GRCm39) K363R probably damaging Het
Or5ar1 T C 2: 85,671,656 (GRCm39) T160A probably damaging Het
Or5b124 A G 19: 13,611,357 (GRCm39) E294G probably damaging Het
Or7e177 T A 9: 20,212,390 (GRCm39) L298Q probably damaging Het
Pde4d T C 13: 110,074,547 (GRCm39) I384T probably damaging Het
Pkhd1 T A 1: 20,593,875 (GRCm39) R1413* probably null Het
Plcd3 T A 11: 102,964,592 (GRCm39) Y593F possibly damaging Het
Podxl T A 6: 31,501,329 (GRCm39) I409F probably damaging Het
Polq A C 16: 36,837,625 (GRCm39) Q179P probably benign Het
Pomt1 T C 2: 32,137,602 (GRCm39) V401A probably damaging Het
Qdpr C T 5: 45,596,727 (GRCm39) G146S probably damaging Het
Shc4 T A 2: 125,512,218 (GRCm39) Q2L probably damaging Het
Skint8 T A 4: 111,807,387 (GRCm39) C358S probably benign Het
Smc5 T C 19: 23,221,467 (GRCm39) E354G possibly damaging Het
Snx30 T C 4: 59,868,275 (GRCm39) V129A probably damaging Het
Sp110 G C 1: 85,504,923 (GRCm39) probably benign Het
Spag6 T A 2: 18,703,613 (GRCm39) probably benign Het
Trim28 T A 7: 12,763,036 (GRCm39) Y450N probably benign Het
Trip11 C T 12: 101,851,924 (GRCm39) W428* probably null Het
Umodl1 T A 17: 31,213,761 (GRCm39) V966E probably damaging Het
Utf1 A G 7: 139,524,704 (GRCm39) probably benign Het
Vmn1r72 T C 7: 11,403,776 (GRCm39) Y224C probably damaging Het
Whrn A G 4: 63,334,825 (GRCm39) S748P probably damaging Het
Zbtb41 T A 1: 139,359,816 (GRCm39) probably null Het
Zfhx3 T C 8: 109,526,964 (GRCm39) F954L probably damaging Het
Zfp456 A T 13: 67,514,359 (GRCm39) I449K 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
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
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'- ACTTGCCAGGATTAAGGACC -3'
(R):5'- CAGTAGTGGGCATTCAAAGGTC -3'

Sequencing Primer
(F):5'- GGCTGTTGCTGAACAAACC -3'
(R):5'- GGTCAAAAGTAGTCATCCCAGTAGC -3'
Posted On 2016-11-21