Incidental Mutation 'R6193:Plxnb1'
ID 502727
Institutional Source Beutler Lab
Gene Symbol Plxnb1
Ensembl Gene ENSMUSG00000053646
Gene Name plexin B1
Synonyms 2900002G15Rik
MMRRC Submission 044333-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6193 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 108924457-108948985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108933971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 733 (L733P)
Ref Sequence ENSEMBL: ENSMUSP00000071966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072093] [ENSMUST00000130366] [ENSMUST00000131462]
AlphaFold Q8CJH3
Predicted Effect probably benign
Transcript: ENSMUST00000072093
AA Change: L733P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071966
Gene: ENSMUSG00000053646
AA Change: L733P

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Sema 35 463 5.84e-101 SMART
PSI 481 534 1.17e-13 SMART
PSI 628 678 6.97e-3 SMART
low complexity region 691 706 N/A INTRINSIC
low complexity region 752 771 N/A INTRINSIC
PSI 1019 1066 2.06e-5 SMART
IPT 1067 1158 7.48e-18 SMART
IPT 1159 1247 3.97e-22 SMART
IPT 1249 1359 6.09e-9 SMART
low complexity region 1483 1494 N/A INTRINSIC
Pfam:Plexin_cytopl 1546 2086 6.5e-230 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130366
SMART Domains Protein: ENSMUSP00000114358
Gene: ENSMUSG00000053646

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Sema 35 138 7.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131462
SMART Domains Protein: ENSMUSP00000115265
Gene: ENSMUSG00000053646

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Sema 35 138 7.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192117
Predicted Effect probably benign
Transcript: ENSMUST00000192988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195364
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mutants are viable and fertile and show no apparent defects in development, adult histology or basic functional parameters. However, a transitory renal phenotype, characterized by increased ureteric branching and enlarged kidneys, is noted over early stages of renal development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A G 15: 60,792,629 (GRCm39) I106T probably benign Het
Aagab A C 9: 63,524,795 (GRCm39) N35H possibly damaging Het
Abcf1 A C 17: 36,274,464 (GRCm39) N161K possibly damaging Het
Adam11 T A 11: 102,662,087 (GRCm39) H140Q probably benign Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Arhgef26 A T 3: 62,247,213 (GRCm39) D99V possibly damaging Het
Arhgef28 A G 13: 98,121,888 (GRCm39) S559P probably damaging Het
Capn11 A G 17: 45,964,430 (GRCm39) probably null Het
Ccdc157 T C 11: 4,101,912 (GRCm39) H3R probably damaging Het
Cd101 A G 3: 100,927,778 (GRCm39) L101P probably damaging Het
Clca3a1 A G 3: 144,464,993 (GRCm39) V80A possibly damaging Het
Cnot6 T A 11: 49,570,850 (GRCm39) I381F probably benign Het
Cntn3 T A 6: 102,185,092 (GRCm39) I675F probably benign Het
Cplx2 C T 13: 54,527,406 (GRCm39) P97S probably damaging Het
Crtac1 T A 19: 42,312,236 (GRCm39) E159V possibly damaging Het
Cyp27a1 A G 1: 74,776,231 (GRCm39) I416V probably benign Het
Cyp2d37-ps T C 15: 82,574,014 (GRCm39) noncoding transcript Het
Cyp2d9 A G 15: 82,336,728 (GRCm39) T26A probably benign Het
Cyp2j7 T A 4: 96,083,440 (GRCm39) R503S probably damaging Het
Dclk1 A T 3: 55,424,292 (GRCm39) probably null Het
Dgkq A T 5: 108,803,366 (GRCm39) C231* probably null Het
Dync1i1 T A 6: 5,730,679 (GRCm39) M38K probably benign Het
Eif2ak4 C T 2: 118,231,081 (GRCm39) probably benign Het
Ephx2 A T 14: 66,326,961 (GRCm39) D411E probably benign Het
Ephx2 T G 14: 66,349,669 (GRCm39) Q34P probably benign Het
Fer1l5 A T 1: 36,448,517 (GRCm39) N1092Y probably benign Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fzd4 A T 7: 89,057,197 (GRCm39) K415* probably null Het
Gfi1 A T 5: 107,869,397 (GRCm39) Y278N probably benign Het
Gm11565 T C 11: 99,806,070 (GRCm39) M154T probably benign Het
Gm7247 A G 14: 51,759,299 (GRCm39) I93V possibly damaging Het
Golm1 T G 13: 59,792,972 (GRCm39) I178L probably benign Het
Grip1 A T 10: 119,874,219 (GRCm39) D302V probably damaging Het
Gtf2h1 G A 7: 46,456,254 (GRCm39) probably null Het
Herc2 C A 7: 55,806,649 (GRCm39) P2372T probably damaging Het
Ighv1-59 C A 12: 115,298,786 (GRCm39) L89F probably damaging Het
Ighv7-4 G A 12: 114,186,445 (GRCm39) A109V possibly damaging Het
Kcnk10 G T 12: 98,407,031 (GRCm39) Q222K probably benign Het
Klra6 A T 6: 129,995,881 (GRCm39) M159K probably benign Het
Lzts3 T C 2: 130,479,306 (GRCm39) T36A probably damaging Het
Mgam T A 6: 40,724,854 (GRCm39) Y443* probably null Het
Mmp23 T A 4: 155,735,990 (GRCm39) M221L possibly damaging Het
Mmp7 T A 9: 7,695,519 (GRCm39) V132E probably damaging Het
Npas2 C A 1: 39,331,843 (GRCm39) T86N probably damaging Het
Or1e32 T A 11: 73,705,650 (GRCm39) H86L probably benign Het
Or5al7 C T 2: 85,992,628 (GRCm39) V222M possibly damaging Het
Papola A T 12: 105,786,605 (GRCm39) E103V probably benign Het
Parp9 A T 16: 35,767,921 (GRCm39) N34Y possibly damaging Het
Pcdh7 A G 5: 57,877,666 (GRCm39) D407G probably damaging Het
Pcdhb5 T G 18: 37,455,080 (GRCm39) Y487D probably damaging Het
Pira12 C G 7: 3,901,049 (GRCm39) probably null Het
Pla2g4a T C 1: 149,778,181 (GRCm39) D5G probably damaging Het
Ppfia4 T C 1: 134,251,899 (GRCm39) D425G probably benign Het
Prss2 T G 6: 41,498,754 (GRCm39) I6S unknown Het
Psme3ip1 A G 8: 95,302,348 (GRCm39) S228P probably damaging Het
Qrfprl T A 6: 65,433,142 (GRCm39) F321I probably damaging Het
Qrich2 T A 11: 116,344,979 (GRCm39) I1693L probably benign Het
Rad52 T C 6: 119,897,143 (GRCm39) V324A probably benign Het
Rapgef2 A T 3: 78,976,751 (GRCm39) Y1352N possibly damaging Het
Rsad2 T G 12: 26,506,186 (GRCm39) Y78S probably damaging Het
Scaf1 A G 7: 44,656,204 (GRCm39) probably benign Het
Sfxn5 T C 6: 85,246,918 (GRCm39) T131A probably damaging Het
Slc4a10 T G 2: 62,073,701 (GRCm39) probably null Het
Spmap2l A G 5: 77,164,183 (GRCm39) D62G possibly damaging Het
Syt1 A G 10: 108,336,597 (GRCm39) V357A probably benign Het
Tenm2 T A 11: 35,937,621 (GRCm39) D1685V probably damaging Het
Tmc3 A G 7: 83,252,543 (GRCm39) T315A probably benign Het
Tmem266 T C 9: 55,344,493 (GRCm39) L375P probably benign Het
Tsks T G 7: 44,603,263 (GRCm39) L355R probably damaging Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Ube2f T A 1: 91,203,041 (GRCm39) probably null Het
Usp37 A T 1: 74,532,087 (GRCm39) V102D probably damaging Het
Usp44 G A 10: 93,683,010 (GRCm39) probably benign Het
Vmn2r115 T C 17: 23,575,983 (GRCm39) F527S probably benign Het
Zfp101 A C 17: 33,600,720 (GRCm39) Y345* probably null Het
Zfp160 C A 17: 21,247,124 (GRCm39) A558E probably benign Het
Zfp236 T C 18: 82,622,372 (GRCm39) E1686G probably damaging Het
Zfp655 T A 5: 145,181,586 (GRCm39) D481E probably benign Het
Zswim4 A G 8: 84,952,774 (GRCm39) V396A probably benign Het
Other mutations in Plxnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Plxnb1 APN 9 108,942,936 (GRCm39) missense probably benign 0.04
IGL01014:Plxnb1 APN 9 108,935,102 (GRCm39) missense probably benign 0.00
IGL01142:Plxnb1 APN 9 108,931,765 (GRCm39) missense probably benign 0.05
IGL01454:Plxnb1 APN 9 108,942,422 (GRCm39) missense probably damaging 1.00
IGL01469:Plxnb1 APN 9 108,934,483 (GRCm39) intron probably benign
IGL01530:Plxnb1 APN 9 108,939,473 (GRCm39) missense probably benign 0.02
IGL01599:Plxnb1 APN 9 108,939,672 (GRCm39) missense probably damaging 1.00
IGL01968:Plxnb1 APN 9 108,930,052 (GRCm39) missense probably benign 0.00
IGL02175:Plxnb1 APN 9 108,929,914 (GRCm39) missense possibly damaging 0.85
IGL02216:Plxnb1 APN 9 108,929,918 (GRCm39) missense probably damaging 1.00
IGL02277:Plxnb1 APN 9 108,941,201 (GRCm39) missense probably damaging 1.00
IGL02311:Plxnb1 APN 9 108,930,190 (GRCm39) missense probably benign
IGL02645:Plxnb1 APN 9 108,943,311 (GRCm39) splice site probably benign
IGL03076:Plxnb1 APN 9 108,935,970 (GRCm39) missense probably damaging 0.96
IGL03107:Plxnb1 APN 9 108,934,054 (GRCm39) missense probably benign
IGL03343:Plxnb1 APN 9 108,943,780 (GRCm39) missense probably damaging 1.00
PIT4431001:Plxnb1 UTSW 9 108,929,786 (GRCm39) missense probably damaging 1.00
R0117:Plxnb1 UTSW 9 108,934,286 (GRCm39) missense possibly damaging 0.93
R0211:Plxnb1 UTSW 9 108,932,731 (GRCm39) nonsense probably null
R0211:Plxnb1 UTSW 9 108,932,731 (GRCm39) nonsense probably null
R0843:Plxnb1 UTSW 9 108,942,769 (GRCm39) missense probably benign 0.20
R0970:Plxnb1 UTSW 9 108,932,331 (GRCm39) missense probably damaging 1.00
R0973:Plxnb1 UTSW 9 108,931,210 (GRCm39) missense possibly damaging 0.47
R1342:Plxnb1 UTSW 9 108,929,720 (GRCm39) missense possibly damaging 0.87
R1386:Plxnb1 UTSW 9 108,930,091 (GRCm39) missense probably benign 0.27
R1419:Plxnb1 UTSW 9 108,943,454 (GRCm39) missense probably damaging 1.00
R1445:Plxnb1 UTSW 9 108,937,989 (GRCm39) missense probably null
R1548:Plxnb1 UTSW 9 108,929,968 (GRCm39) missense possibly damaging 0.95
R1621:Plxnb1 UTSW 9 108,935,873 (GRCm39) missense probably benign 0.04
R1658:Plxnb1 UTSW 9 108,931,939 (GRCm39) nonsense probably null
R1727:Plxnb1 UTSW 9 108,930,125 (GRCm39) splice site probably null
R1750:Plxnb1 UTSW 9 108,940,836 (GRCm39) missense probably benign 0.00
R1795:Plxnb1 UTSW 9 108,929,813 (GRCm39) missense probably benign
R1929:Plxnb1 UTSW 9 108,931,776 (GRCm39) splice site probably null
R1935:Plxnb1 UTSW 9 108,924,715 (GRCm39) critical splice donor site probably null
R1936:Plxnb1 UTSW 9 108,924,715 (GRCm39) critical splice donor site probably null
R2014:Plxnb1 UTSW 9 108,935,687 (GRCm39) splice site probably benign
R2057:Plxnb1 UTSW 9 108,938,294 (GRCm39) missense possibly damaging 0.71
R2102:Plxnb1 UTSW 9 108,944,810 (GRCm39) missense probably damaging 1.00
R2271:Plxnb1 UTSW 9 108,931,776 (GRCm39) splice site probably null
R2422:Plxnb1 UTSW 9 108,937,506 (GRCm39) missense probably benign 0.02
R2881:Plxnb1 UTSW 9 108,943,480 (GRCm39) missense probably damaging 1.00
R3409:Plxnb1 UTSW 9 108,935,681 (GRCm39) splice site probably null
R3417:Plxnb1 UTSW 9 108,929,828 (GRCm39) missense probably damaging 0.97
R3756:Plxnb1 UTSW 9 108,942,526 (GRCm39) unclassified probably benign
R3788:Plxnb1 UTSW 9 108,938,355 (GRCm39) missense possibly damaging 0.89
R3789:Plxnb1 UTSW 9 108,938,355 (GRCm39) missense possibly damaging 0.89
R4042:Plxnb1 UTSW 9 108,934,241 (GRCm39) missense probably benign 0.00
R4289:Plxnb1 UTSW 9 108,943,420 (GRCm39) missense probably damaging 1.00
R4396:Plxnb1 UTSW 9 108,929,291 (GRCm39) missense possibly damaging 0.51
R4564:Plxnb1 UTSW 9 108,942,488 (GRCm39) missense probably benign 0.10
R4676:Plxnb1 UTSW 9 108,939,503 (GRCm39) missense possibly damaging 0.63
R4706:Plxnb1 UTSW 9 108,941,096 (GRCm39) missense probably damaging 1.00
R4792:Plxnb1 UTSW 9 108,939,716 (GRCm39) missense probably damaging 1.00
R4796:Plxnb1 UTSW 9 108,943,663 (GRCm39) missense probably damaging 1.00
R4835:Plxnb1 UTSW 9 108,934,442 (GRCm39) missense probably damaging 0.96
R4901:Plxnb1 UTSW 9 108,934,027 (GRCm39) missense probably benign 0.01
R4952:Plxnb1 UTSW 9 108,943,904 (GRCm39) missense probably damaging 1.00
R5005:Plxnb1 UTSW 9 108,935,647 (GRCm39) missense probably benign 0.00
R5015:Plxnb1 UTSW 9 108,929,498 (GRCm39) missense possibly damaging 0.95
R5029:Plxnb1 UTSW 9 108,943,723 (GRCm39) missense probably damaging 1.00
R5180:Plxnb1 UTSW 9 108,940,761 (GRCm39) splice site probably null
R5256:Plxnb1 UTSW 9 108,943,661 (GRCm39) missense probably damaging 1.00
R5285:Plxnb1 UTSW 9 108,937,527 (GRCm39) missense probably damaging 0.99
R5431:Plxnb1 UTSW 9 108,929,840 (GRCm39) missense probably damaging 1.00
R5444:Plxnb1 UTSW 9 108,935,521 (GRCm39) missense probably benign 0.22
R5546:Plxnb1 UTSW 9 108,929,818 (GRCm39) missense probably damaging 1.00
R5852:Plxnb1 UTSW 9 108,935,518 (GRCm39) missense probably damaging 1.00
R5892:Plxnb1 UTSW 9 108,940,775 (GRCm39) missense probably damaging 1.00
R6020:Plxnb1 UTSW 9 108,945,679 (GRCm39) missense probably damaging 1.00
R6053:Plxnb1 UTSW 9 108,940,775 (GRCm39) missense probably damaging 1.00
R6177:Plxnb1 UTSW 9 108,931,993 (GRCm39) splice site probably null
R6274:Plxnb1 UTSW 9 108,941,209 (GRCm39) critical splice donor site probably null
R6310:Plxnb1 UTSW 9 108,938,796 (GRCm39) missense probably damaging 0.96
R6404:Plxnb1 UTSW 9 108,945,705 (GRCm39) missense probably damaging 1.00
R6422:Plxnb1 UTSW 9 108,937,992 (GRCm39) missense probably damaging 1.00
R6479:Plxnb1 UTSW 9 108,940,733 (GRCm39) missense possibly damaging 0.92
R6555:Plxnb1 UTSW 9 108,937,473 (GRCm39) critical splice acceptor site probably null
R6646:Plxnb1 UTSW 9 108,937,895 (GRCm39) missense probably benign
R6648:Plxnb1 UTSW 9 108,933,398 (GRCm39) missense probably benign 0.14
R6661:Plxnb1 UTSW 9 108,933,367 (GRCm39) missense possibly damaging 0.94
R6674:Plxnb1 UTSW 9 108,937,214 (GRCm39) missense probably benign 0.00
R6734:Plxnb1 UTSW 9 108,937,988 (GRCm39) nonsense probably null
R6859:Plxnb1 UTSW 9 108,935,838 (GRCm39) missense probably damaging 1.00
R6948:Plxnb1 UTSW 9 108,945,702 (GRCm39) missense probably damaging 0.96
R7030:Plxnb1 UTSW 9 108,941,375 (GRCm39) missense probably damaging 1.00
R7038:Plxnb1 UTSW 9 108,929,453 (GRCm39) missense probably damaging 1.00
R7204:Plxnb1 UTSW 9 108,929,243 (GRCm39) missense probably damaging 1.00
R7427:Plxnb1 UTSW 9 108,937,236 (GRCm39) missense probably benign 0.01
R7428:Plxnb1 UTSW 9 108,937,236 (GRCm39) missense probably benign 0.01
R7443:Plxnb1 UTSW 9 108,943,675 (GRCm39) missense probably damaging 1.00
R7527:Plxnb1 UTSW 9 108,929,929 (GRCm39) missense probably damaging 0.99
R7645:Plxnb1 UTSW 9 108,943,480 (GRCm39) missense probably damaging 1.00
R7680:Plxnb1 UTSW 9 108,929,571 (GRCm39) nonsense probably null
R7866:Plxnb1 UTSW 9 108,929,525 (GRCm39) missense probably damaging 0.98
R7898:Plxnb1 UTSW 9 108,943,408 (GRCm39) missense probably damaging 1.00
R7905:Plxnb1 UTSW 9 108,938,300 (GRCm39) missense probably damaging 1.00
R8092:Plxnb1 UTSW 9 108,929,573 (GRCm39) missense probably damaging 1.00
R8150:Plxnb1 UTSW 9 108,941,146 (GRCm39) missense probably damaging 0.98
R8286:Plxnb1 UTSW 9 108,935,870 (GRCm39) missense probably damaging 1.00
R8290:Plxnb1 UTSW 9 108,938,687 (GRCm39) missense probably benign 0.00
R8987:Plxnb1 UTSW 9 108,937,178 (GRCm39) splice site probably benign
R9176:Plxnb1 UTSW 9 108,941,651 (GRCm39) missense probably damaging 1.00
R9231:Plxnb1 UTSW 9 108,934,286 (GRCm39) missense possibly damaging 0.59
R9698:Plxnb1 UTSW 9 108,925,251 (GRCm39) start gained probably benign
Z1177:Plxnb1 UTSW 9 108,937,989 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- TCTGCCTTAGAGAATTAACGGGATG -3'
(R):5'- AGCTGCATCTGAGGGGAATG -3'

Sequencing Primer
(F):5'- ACTTGCCTGCTGAGTGAC -3'
(R):5'- CTGCATCTGAGGGGAATGGGTAG -3'
Posted On 2018-02-27