Incidental Mutation 'R7877:Plxna1'
ID 608497
Institutional Source Beutler Lab
Gene Symbol Plxna1
Ensembl Gene ENSMUSG00000030084
Gene Name plexin A1
Synonyms NOV, PlexA1, Plxn1, 2600013D04Rik
MMRRC Submission 045929-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.888) question?
Stock # R7877 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 89293295-89339595 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89300241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 1614 (F1614S)
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: F1614S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063066
Gene: ENSMUSG00000030084
AA Change: F1614S

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: F1614S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131840
Gene: ENSMUSG00000030084
AA Change: F1614S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G A 17: 9,220,665 (GRCm39) C388Y probably damaging Het
4930522L14Rik G A 5: 109,884,230 (GRCm39) H543Y probably damaging Het
Abca1 A T 4: 53,046,135 (GRCm39) V1711E possibly damaging Het
Abca3 A T 17: 24,602,997 (GRCm39) K531* probably null Het
Adgrf5 A T 17: 43,752,729 (GRCm39) D557V possibly damaging Het
Adgrl3 A G 5: 81,842,467 (GRCm39) E865G probably benign Het
Adprhl1 T A 8: 13,275,316 (GRCm39) R481* probably null Het
Afap1l1 T A 18: 61,879,853 (GRCm39) D339V probably damaging Het
Atp9b T A 18: 80,890,412 (GRCm39) H309L Het
Baiap3 A G 17: 25,470,112 (GRCm39) V122A probably damaging Het
Btg4 T C 9: 51,029,240 (GRCm39) S142P probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cdca2 T A 14: 67,914,665 (GRCm39) T865S probably benign Het
Cdk12 A G 11: 98,131,661 (GRCm39) Y964C unknown Het
Cenpo A T 12: 4,264,573 (GRCm39) F273Y probably damaging Het
Cfap96 T A 8: 46,423,436 (GRCm39) K92M probably damaging Het
Chac1 T A 2: 119,183,987 (GRCm39) D196E probably damaging Het
Clec4n T C 6: 123,209,063 (GRCm39) F43L probably benign Het
Colgalt1 T A 8: 72,074,508 (GRCm39) C407S probably damaging Het
Csnk1g1 T A 9: 65,906,830 (GRCm39) probably null Het
Cyp2b23 T A 7: 26,385,851 (GRCm39) E2V probably damaging Het
Cyp51 T A 5: 4,152,929 (GRCm39) K91M probably damaging Het
Cyria A C 12: 12,414,798 (GRCm39) Y263S probably benign Het
Dnah8 G T 17: 30,882,348 (GRCm39) G640V probably benign Het
Dnajc2 G T 5: 21,965,637 (GRCm39) S505R possibly damaging Het
Fam124b A T 1: 80,191,053 (GRCm39) L110H probably damaging Het
Fem1b T A 9: 62,703,844 (GRCm39) Y472F probably benign Het
Frem1 A G 4: 82,932,049 (GRCm39) probably null Het
Gabrg1 A T 5: 70,973,415 (GRCm39) D46E probably damaging Het
Gbp4 T C 5: 105,266,161 (GRCm39) K627E probably benign Het
Glis1 A G 4: 107,491,900 (GRCm39) D776G probably damaging Het
Gm4847 A G 1: 166,467,575 (GRCm39) V207A possibly damaging Het
Gm7298 T A 6: 121,759,741 (GRCm39) Y1213* probably null Het
Gm8229 T A 14: 44,604,033 (GRCm39) L74* probably null Het
Hc A T 2: 34,887,411 (GRCm39) Y1364* probably null Het
Hnrnpa2b1 A T 6: 51,443,302 (GRCm39) S186R unknown Het
Hrh4 A G 18: 13,155,582 (GRCm39) I374V possibly damaging Het
Ighmbp2 A G 19: 3,311,490 (GRCm39) L975P probably damaging Het
Intu G A 3: 40,654,222 (GRCm39) V905I probably benign Het
Large1 T A 8: 73,843,071 (GRCm39) R151W probably damaging Het
Limd2 G A 11: 106,050,004 (GRCm39) T24M probably benign Het
Med16 A T 10: 79,734,206 (GRCm39) C569* probably null Het
Mettl1 T G 10: 126,880,390 (GRCm39) V104G possibly damaging Het
Mgat4c A G 10: 102,220,900 (GRCm39) T61A probably benign Het
Mrps31 T A 8: 22,914,367 (GRCm39) Y238N probably benign Het
Mrs2 T C 13: 25,181,113 (GRCm39) E236G probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Noxred1 G A 12: 87,271,761 (GRCm39) A136V probably benign Het
Obscn T A 11: 59,024,588 (GRCm39) D484V probably damaging Het
Picalm C A 7: 89,779,876 (GRCm39) H32Q probably benign Het
Pik3r5 G A 11: 68,381,431 (GRCm39) G206R probably damaging Het
Plekhh2 G A 17: 84,882,434 (GRCm39) C680Y probably benign Het
Ppip5k1 T C 2: 121,147,235 (GRCm39) M1129V probably benign Het
Prp2 C T 6: 132,572,928 (GRCm39) T7I unknown Het
Rrbp1 A T 2: 143,789,815 (GRCm39) probably benign Het
Sdhaf3 C T 6: 7,038,855 (GRCm39) T59M probably benign Het
Slc17a6 T A 7: 51,275,253 (GRCm39) I104N probably benign Het
Slc35c1 A T 2: 92,289,402 (GRCm39) W48R probably damaging Het
Slc5a4b A T 10: 75,910,886 (GRCm39) C317S probably damaging Het
Smim13 G T 13: 41,403,650 (GRCm39) probably benign Het
Snrpg T C 6: 86,355,761 (GRCm39) V76A probably benign Het
Sntb2 C T 8: 107,738,164 (GRCm39) T509I probably benign Het
Sptbn1 T C 11: 30,079,601 (GRCm39) D1276G possibly damaging Het
Sptbn2 A G 19: 4,794,290 (GRCm39) E1498G possibly damaging Het
Stau1 T A 2: 166,792,787 (GRCm39) N393Y possibly damaging Het
Tars2 A T 3: 95,653,401 (GRCm39) S500T probably damaging Het
Tbc1d23 A T 16: 56,993,488 (GRCm39) D559E probably benign Het
Trav14-2 T C 14: 53,878,508 (GRCm39) Y64H possibly damaging Het
Trpm3 A C 19: 22,882,148 (GRCm39) E838D probably benign Het
Vmn1r23 G A 6: 57,903,541 (GRCm39) A79V probably benign Het
Vmn1r48 G T 6: 90,013,431 (GRCm39) N131K probably benign Het
Vmn2r18 A T 5: 151,508,437 (GRCm39) M229K probably damaging Het
Zbtb4 G A 11: 69,666,863 (GRCm39) R56K probably benign Het
Zfp616 G T 11: 73,975,188 (GRCm39) G486W probably damaging Het
Zkscan8 A T 13: 21,704,580 (GRCm39) F453Y possibly damaging 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
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'- CACCCGAGGTCCCTTGTTTATAG -3'
(R):5'- GATTCAGAGTGGTGGCATGAC -3'

Sequencing Primer
(F):5'- CCGAGGTCCCTTGTTTATAGGCTATG -3'
(R):5'- ATGACTTCTCTCGAGGGGCAG -3'
Posted On 2019-12-20