Incidental Mutation 'R4952:Plxnb1'
ID 382069
Institutional Source Beutler Lab
Gene Symbol Plxnb1
Ensembl Gene ENSMUSG00000053646
Gene Name plexin B1
Synonyms 2900002G15Rik
MMRRC Submission 042549-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4952 (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 108943904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1969 (F1969L)
Ref Sequence ENSEMBL: ENSMUSP00000071966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072093]
AlphaFold Q8CJH3
Predicted Effect probably damaging
Transcript: ENSMUST00000072093
AA Change: F1969L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071966
Gene: ENSMUSG00000053646
AA Change: F1969L

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 0.7054 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 99% (93/94)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,887,063 (GRCm39) probably null Het
4933421I07Rik T C 7: 42,097,083 (GRCm39) Y76C possibly damaging Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Ak9 A G 10: 41,296,585 (GRCm39) M1444V probably benign Het
Amfr A G 8: 94,699,787 (GRCm39) probably benign Het
Ankef1 A G 2: 136,392,449 (GRCm39) E546G probably damaging Het
Ankrd24 A G 10: 81,482,982 (GRCm39) M977V probably benign Het
Ap3m1 A T 14: 21,090,134 (GRCm39) S5T probably benign Het
Aqr C A 2: 113,940,418 (GRCm39) D1243Y probably damaging Het
Arhgef2 T C 3: 88,549,769 (GRCm39) L591P probably damaging Het
Arid4a C A 12: 71,070,299 (GRCm39) T70K possibly damaging Het
Asphd1 C T 7: 126,547,857 (GRCm39) A149T probably benign Het
Avpr1a T A 10: 122,285,659 (GRCm39) M317K probably damaging Het
Birc2 T C 9: 7,836,741 (GRCm39) I109V probably damaging Het
Catsperd A G 17: 56,939,303 (GRCm39) Y44C probably damaging Het
Crygb T G 1: 65,121,268 (GRCm39) S20R probably benign Het
Cyp3a25 T C 5: 145,928,334 (GRCm39) N237S probably benign Het
Dkk3 C T 7: 111,717,558 (GRCm39) A304T probably benign Het
Dst T C 1: 34,310,503 (GRCm39) L4101S probably damaging Het
Dysf A G 6: 84,126,968 (GRCm39) N1407S possibly damaging Het
Epb41 A G 4: 131,727,581 (GRCm39) V265A probably damaging Het
Faim2 C T 15: 99,419,109 (GRCm39) E75K possibly damaging Het
Fam237b T A 5: 5,625,387 (GRCm39) F28I probably benign Het
Fbn1 T A 2: 125,159,454 (GRCm39) D2208V probably damaging Het
Fbxo28 A G 1: 182,153,950 (GRCm39) S129P probably damaging Het
Fbxw14 T A 9: 109,105,269 (GRCm39) I299L probably benign Het
Fras1 C T 5: 96,795,357 (GRCm39) A1050V probably benign Het
Fyb1 C A 15: 6,668,292 (GRCm39) T495K probably damaging Het
Ghdc A T 11: 100,659,977 (GRCm39) W257R probably damaging Het
Gm10719 T C 9: 3,018,962 (GRCm39) L69S probably benign Het
Gm12250 G T 11: 58,079,210 (GRCm39) noncoding transcript Het
Gm4846 A T 1: 166,311,503 (GRCm39) F452Y probably damaging Het
Gpbp1 T C 13: 111,577,284 (GRCm39) D202G probably damaging Het
Gpd2 C A 2: 57,197,025 (GRCm39) Y193* probably null Het
Grhl2 G T 15: 37,287,493 (GRCm39) R229L probably benign Het
Gtf2a1 A G 12: 91,542,523 (GRCm39) F59L possibly damaging Het
Heatr1 G T 13: 12,425,480 (GRCm39) W640L probably benign Het
Kalrn A T 16: 34,177,785 (GRCm39) probably null Het
Keap1 T C 9: 21,148,582 (GRCm39) T142A probably damaging Het
Kpna2 G A 11: 106,882,061 (GRCm39) T255M probably damaging Het
Kpna3 A G 14: 61,607,838 (GRCm39) C456R probably damaging Het
Lama1 G A 17: 68,074,561 (GRCm39) probably null Het
Lrrc37 T C 11: 103,505,033 (GRCm39) T2312A possibly damaging Het
Mag C A 7: 30,608,581 (GRCm39) E178* probably null Het
Map3k13 A G 16: 21,729,769 (GRCm39) I467V probably benign Het
Mga A G 2: 119,733,782 (GRCm39) E210G probably damaging Het
Msi2 C T 11: 88,257,610 (GRCm39) probably null Het
Naa16 A T 14: 79,582,525 (GRCm39) D521E probably damaging Het
Nav2 C T 7: 48,954,288 (GRCm39) probably benign Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nek5 T C 8: 22,586,815 (GRCm39) K332R probably benign Het
Nek5 T A 8: 22,569,104 (GRCm39) I573L probably benign Het
Ntn1 CCTTCTTCT CCTTCT 11: 68,103,852 (GRCm39) probably benign Het
Odad1 A C 7: 45,591,615 (GRCm39) E293A probably damaging Het
Or2w1 G A 13: 21,317,514 (GRCm39) V190I probably benign Het
Or5v1b A T 17: 37,841,641 (GRCm39) T258S possibly damaging Het
Or6c204 T A 10: 129,022,466 (GRCm39) T275S probably benign Het
Or8b12b T A 9: 37,684,360 (GRCm39) M135K probably damaging Het
Orai1 T G 5: 123,167,313 (GRCm39) V162G probably damaging Het
P2rx6 T C 16: 17,385,308 (GRCm39) S134P probably damaging Het
Pappa2 G A 1: 158,684,706 (GRCm39) T811I probably null Het
Pcdhga10 T C 18: 37,880,213 (GRCm39) probably benign Het
Pex16 C T 2: 92,209,405 (GRCm39) R241* probably null Het
Postn A G 3: 54,297,736 (GRCm39) probably benign Het
Prdm15 A T 16: 97,607,277 (GRCm39) I752N probably damaging Het
Rasgef1c A T 11: 49,870,339 (GRCm39) K468M probably damaging Het
Rbfox1 A G 16: 7,094,952 (GRCm39) S111G probably benign Het
Rbm28 T C 6: 29,138,597 (GRCm39) D405G probably damaging Het
Rell1 A G 5: 64,097,010 (GRCm39) probably benign Het
Rfx3 A G 19: 27,808,072 (GRCm39) S224P probably damaging Het
Scarb2 A T 5: 92,602,636 (GRCm39) I260K probably damaging Het
Septin4 A G 11: 87,458,598 (GRCm39) N324S probably benign Het
Slc15a4 A G 5: 127,680,901 (GRCm39) F72L probably damaging Het
Spg7 C A 8: 123,816,910 (GRCm39) R534S probably damaging Het
Stoml2 T C 4: 43,029,589 (GRCm39) T164A probably benign Het
Syt11 C T 3: 88,669,590 (GRCm39) G101S possibly damaging Het
Traj12 A G 14: 54,444,013 (GRCm39) probably benign Het
Traj7 A T 14: 54,448,981 (GRCm39) probably benign Het
Tysnd1 C T 10: 61,537,855 (GRCm39) T175I possibly damaging Het
Usp48 T G 4: 137,334,004 (GRCm39) Y139* probably null Het
Vmn2r72 A G 7: 85,400,317 (GRCm39) L244P probably benign Het
Wasf1 C A 10: 40,812,186 (GRCm39) P325Q unknown Het
Zc3h18 T A 8: 123,137,639 (GRCm39) probably benign Het
Zfp712 A G 13: 67,188,905 (GRCm39) S541P possibly 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
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
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'- GACTTGCTGGATGAACAAGCTC -3'
(R):5'- AAGCCCTGAAGATCTGTGCC -3'

Sequencing Primer
(F):5'- CAGCAGCATGGCATCTCTGATC -3'
(R):5'- ACCAGCTACATGGGTGTCATC -3'
Posted On 2016-04-27