Incidental Mutation 'R5256:Plxnb1'
ID 399674
Institutional Source Beutler Lab
Gene Symbol Plxnb1
Ensembl Gene ENSMUSG00000053646
Gene Name plexin B1
Synonyms 2900002G15Rik
MMRRC Submission 042827-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5256 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108924457-108948985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108943661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 1916 (F1916S)
Ref Sequence ENSEMBL: ENSMUSP00000071966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072093]
AlphaFold Q8CJH3
Predicted Effect probably damaging
Transcript: ENSMUST00000072093
AA Change: F1916S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071966
Gene: ENSMUSG00000053646
AA Change: F1916S

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
Meta Mutation Damage Score 0.8458 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 97% (95/98)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730015C16Rik C A 4: 108,705,262 (GRCm39) probably benign Het
Actr1b T C 1: 36,739,173 (GRCm39) H372R probably benign Het
Ampd2 C A 3: 107,986,865 (GRCm39) probably benign Het
Anapc4 A G 5: 53,020,936 (GRCm39) S612G probably benign Het
Arhgef7 T C 8: 11,850,811 (GRCm39) L141P probably damaging Het
Atl1 A G 12: 70,006,107 (GRCm39) D471G probably damaging Het
Atrn A G 2: 130,787,939 (GRCm39) D247G probably benign Het
Bag1 T A 4: 40,948,022 (GRCm39) R61W probably damaging Het
Card10 C T 15: 78,662,451 (GRCm39) R898H probably damaging Het
Cct6b G A 11: 82,655,046 (GRCm39) A3V probably damaging Het
Cfap54 A T 10: 92,770,953 (GRCm39) L2097* probably null Het
Cfap54 T C 10: 92,880,885 (GRCm39) probably null Het
Chd5 T C 4: 152,456,554 (GRCm39) F964L probably benign Het
Cog5 A G 12: 31,936,204 (GRCm39) T584A probably benign Het
Cpa2 T A 6: 30,547,196 (GRCm39) N157K probably damaging Het
Cpeb1 A T 7: 81,001,587 (GRCm39) M440K probably damaging Het
Cracr2a G A 6: 127,580,992 (GRCm39) C56Y probably damaging Het
Ddb2 A C 2: 91,067,073 (GRCm39) L30R probably damaging Het
Dlk1 T A 12: 109,425,697 (GRCm39) I190N probably damaging Het
Dnaaf4 T C 9: 72,879,362 (GRCm39) probably null Het
Dnajc13 T A 9: 104,080,528 (GRCm39) Y851F possibly damaging Het
Dop1a T A 9: 86,397,381 (GRCm39) L895Q probably damaging Het
F7 G A 8: 13,080,763 (GRCm39) C122Y probably damaging Het
Frrs1 T C 3: 116,696,749 (GRCm39) V573A possibly damaging Het
Galnt2l T C 8: 122,997,175 (GRCm39) probably benign Het
Gm17541 A T 12: 4,739,672 (GRCm39) probably benign Het
Gm5519 A T 19: 33,800,576 (GRCm39) H90L probably damaging Het
Gm5526 T A 1: 45,896,569 (GRCm39) noncoding transcript Het
Gm5709 A T 3: 59,509,971 (GRCm39) noncoding transcript Het
Golga4 T A 9: 118,385,569 (GRCm39) V869D possibly damaging Het
Grm7 A T 6: 111,335,182 (GRCm39) Q531L probably benign Het
Hnrnpu C A 1: 178,163,458 (GRCm39) C265F unknown Het
Hoxd3 G A 2: 74,577,211 (GRCm39) V364I possibly damaging Het
Hspb8 T C 5: 116,547,532 (GRCm39) D150G probably damaging Het
Hydin C A 8: 111,313,855 (GRCm39) N4244K possibly damaging Het
Ik A G 18: 36,881,926 (GRCm39) D136G probably benign Het
Il11ra1 T C 4: 41,767,932 (GRCm39) probably benign Het
Jph1 T C 1: 17,161,622 (GRCm39) I347V probably benign Het
Klk1 T A 7: 43,870,985 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,265,087 (GRCm39) probably benign Het
Lnx1 C T 5: 74,846,315 (GRCm39) C45Y probably damaging Het
Macc1 T A 12: 119,410,264 (GRCm39) M344K possibly damaging Het
Madcam1 A G 10: 79,500,779 (GRCm39) E32G possibly damaging Het
Mat2a T C 6: 72,411,316 (GRCm39) D383G probably benign Het
Mpst T A 15: 78,297,849 (GRCm39) I289N probably damaging Het
Myh6 C T 14: 55,190,118 (GRCm39) R1055Q probably damaging Het
Myh7 T C 14: 55,216,965 (GRCm39) K1131E probably damaging Het
Ndrg3 A T 2: 156,773,125 (GRCm39) probably benign Het
Nebl A G 2: 17,438,786 (GRCm39) S209P probably benign Het
Nid2 A G 14: 19,818,276 (GRCm39) probably null Het
Nup188 A T 2: 30,220,761 (GRCm39) S945C probably damaging Het
Or1j21 A G 2: 36,683,685 (GRCm39) M146V probably benign Het
Or5g23 C T 2: 85,438,817 (GRCm39) V146I probably benign Het
Or8c11 A G 9: 38,289,213 (GRCm39) N12S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Patl2 A G 2: 121,959,368 (GRCm39) L32P probably damaging Het
Pcdh20 T A 14: 88,705,813 (GRCm39) M496L probably benign Het
Pdzd2 A G 15: 12,373,028 (GRCm39) V2369A possibly damaging Het
Pfn2 A G 3: 57,754,812 (GRCm39) V31A probably damaging Het
Plxna4 T C 6: 32,228,007 (GRCm39) N533S probably benign Het
Ppp4r3b T C 11: 29,138,293 (GRCm39) F214L probably benign Het
Prox1 T C 1: 189,893,638 (GRCm39) D269G probably benign Het
Rapgef4 T C 2: 71,864,378 (GRCm39) F71S probably damaging Het
Rft1 A G 14: 30,383,243 (GRCm39) I94M probably benign Het
S100z T C 13: 95,615,127 (GRCm39) I13V probably damaging Het
Serhl T A 15: 82,986,835 (GRCm39) V117E probably damaging Het
Shroom1 G A 11: 53,356,334 (GRCm39) R336Q probably benign Het
Sik3 A T 9: 46,123,552 (GRCm39) Q1067L probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc28a1 G A 7: 80,771,869 (GRCm39) V118M probably damaging Het
Slco1a6 T A 6: 142,078,427 (GRCm39) I153F probably benign Het
Ss18l1 T C 2: 179,703,735 (GRCm39) Y323H unknown Het
Susd4 G T 1: 182,719,824 (GRCm39) A480S possibly damaging Het
Syne3 A T 12: 104,942,139 (GRCm39) M1K probably null Het
Synpo2l A T 14: 20,711,082 (GRCm39) S513T probably benign Het
Tat A T 8: 110,724,966 (GRCm39) N388I probably benign Het
Tbc1d1 A G 5: 64,439,352 (GRCm39) Y619C probably damaging Het
Tbk1 G A 10: 121,406,590 (GRCm39) T216M probably damaging Het
Tns1 C T 1: 74,034,585 (GRCm39) probably benign Het
Trbv5 T C 6: 41,039,318 (GRCm39) V9A possibly damaging Het
Trpm5 A G 7: 142,636,040 (GRCm39) Y575H probably damaging Het
Ttn A T 2: 76,570,045 (GRCm39) Y25203* probably null Het
Tubb3 C A 8: 124,148,391 (GRCm39) D441E probably benign Het
Usp33 T A 3: 152,097,333 (GRCm39) C850* probably null Het
Vdac1 G A 11: 52,274,905 (GRCm39) probably null Het
Vmn1r232 T C 17: 21,133,846 (GRCm39) I251M probably damaging Het
Vmn2r11 T G 5: 109,202,658 (GRCm39) I140L probably benign Het
Vmn2r6 A T 3: 64,464,263 (GRCm39) N190K probably benign Het
Vps51 T A 19: 6,120,518 (GRCm39) H465L probably benign Het
Zfp318 T G 17: 46,722,995 (GRCm39) I1666S probably benign Het
Zfp446 C T 7: 12,713,231 (GRCm39) R90* probably null Het
Zgrf1 T A 3: 127,396,094 (GRCm39) F547I probably damaging 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
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
R6193:Plxnb1 UTSW 9 108,933,971 (GRCm39) missense probably benign
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'- GACACGCCTGCTATCCATGAAG -3'
(R):5'- AGTAACTGTGCTGTGGAGGC -3'

Sequencing Primer
(F):5'- CCTGCTATCCATGAAGGTGGG -3'
(R):5'- GCCCCCACATATGTCCTGAG -3'
Posted On 2016-07-06