Incidental Mutation 'R2057:Plxnb1'
ID 228273
Institutional Source Beutler Lab
Gene Symbol Plxnb1
Ensembl Gene ENSMUSG00000053646
Gene Name plexin B1
Synonyms 2900002G15Rik
MMRRC Submission 040062-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2057 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 108924457-108948985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108938294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1283 (I1283F)
Ref Sequence ENSEMBL: ENSMUSP00000071966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072093]
AlphaFold Q8CJH3
Predicted Effect possibly damaging
Transcript: ENSMUST00000072093
AA Change: I1283F

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000071966
Gene: ENSMUSG00000053646
AA Change: I1283F

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 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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,806,477 (GRCm39) K764E probably damaging Het
Abcg2 T C 6: 58,667,525 (GRCm39) V129A probably benign Het
Adgrf5 A G 17: 43,739,477 (GRCm39) Y72C possibly damaging Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Ano1 A G 7: 144,201,789 (GRCm39) V334A probably damaging Het
Apob A T 12: 8,052,164 (GRCm39) R1202* probably null Het
Arfgap3 G T 15: 83,194,501 (GRCm39) D389E probably benign Het
Atf6b A T 17: 34,867,549 (GRCm39) probably null Het
Atoh8 T C 6: 72,212,112 (GRCm39) K13E probably damaging Het
Bicral G T 17: 47,135,814 (GRCm39) N465K possibly damaging Het
Bves T A 10: 45,219,231 (GRCm39) Y110N probably damaging Het
C4b A G 17: 34,947,594 (GRCm39) Y1695H probably damaging Het
Cage1 A G 13: 38,207,356 (GRCm39) V163A probably benign Het
Canx T C 11: 50,195,252 (GRCm39) N272S probably damaging Het
Caskin1 G T 17: 24,715,433 (GRCm39) G93V probably damaging Het
Cd34 T C 1: 194,641,450 (GRCm39) V292A probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdh16 C A 8: 105,348,597 (GRCm39) G144* probably null Het
Chaf1b T A 16: 93,691,795 (GRCm39) H280Q probably damaging Het
Chpf2 G A 5: 24,796,220 (GRCm39) G389R probably damaging Het
Crb1 T C 1: 139,242,488 (GRCm39) Y330C probably damaging Het
Cux2 A T 5: 122,007,567 (GRCm39) V698E probably benign Het
Dhtkd1 A G 2: 5,947,430 (GRCm39) V18A unknown Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Enpp1 C G 10: 24,536,090 (GRCm39) A437P probably damaging Het
Fat2 C T 11: 55,172,686 (GRCm39) V2676I possibly damaging Het
Fzd2 A G 11: 102,496,759 (GRCm39) D401G probably damaging Het
Gcm2 T C 13: 41,263,430 (GRCm39) M1V probably null Het
Gnai3 C T 3: 108,019,812 (GRCm39) V233I probably benign Het
Golim4 T A 3: 75,802,194 (GRCm39) D366V possibly damaging Het
Grin1 T A 2: 25,206,832 (GRCm39) T110S probably damaging Het
Grin2a A G 16: 9,487,608 (GRCm39) V430A probably benign Het
Gstp3 G A 19: 4,109,282 (GRCm39) T5I probably damaging Het
Il17rb T A 14: 29,719,111 (GRCm39) M324L probably benign Het
Jmy A G 13: 93,596,211 (GRCm39) Y473H probably damaging Het
Khdc1b A G 1: 21,454,534 (GRCm39) D79G probably benign Het
Kremen2 T C 17: 23,961,691 (GRCm39) E272G possibly damaging Het
Lmo7 G C 14: 102,124,614 (GRCm39) A358P probably damaging Het
Mdh1b T C 1: 63,760,741 (GRCm39) I107V probably benign Het
Mlkl T C 8: 112,060,242 (GRCm39) Q48R probably benign Het
Myh2 G A 11: 67,079,665 (GRCm39) probably null Het
Naip1 T A 13: 100,562,081 (GRCm39) Q1028L probably damaging Het
Ncald T A 15: 37,397,423 (GRCm39) I86F possibly damaging Het
Nid1 A C 13: 13,675,058 (GRCm39) H926P probably benign Het
Nlrp9a T A 7: 26,256,787 (GRCm39) I46K possibly damaging Het
Or1p1 A G 11: 74,179,652 (GRCm39) Y60C probably damaging Het
Or9r3 A T 10: 129,947,859 (GRCm39) S267T probably benign Het
Pak1 T A 7: 97,557,004 (GRCm39) probably null Het
Parpbp T A 10: 87,960,824 (GRCm39) M221L probably benign Het
Pde12 T C 14: 26,390,035 (GRCm39) I225V probably benign Het
Phf19 G T 2: 34,789,620 (GRCm39) R367S probably benign Het
Plcl2 A G 17: 50,975,139 (GRCm39) probably null Het
Pramel6 T A 2: 87,339,059 (GRCm39) N86K possibly damaging Het
Prkdc A G 16: 15,545,469 (GRCm39) T1862A probably benign Het
Prpf40a A T 2: 53,034,851 (GRCm39) I779K probably damaging Het
Prss3b G A 6: 41,009,315 (GRCm39) T173I probably benign Het
Ptpn20 A T 14: 33,352,942 (GRCm39) E227V probably damaging Het
Rad54b C T 4: 11,606,088 (GRCm39) R499C probably benign Het
Rarg C A 15: 102,147,939 (GRCm39) A291S probably damaging Het
Rnf169 A T 7: 99,574,615 (GRCm39) L660Q probably damaging Het
Scn4a A G 11: 106,226,550 (GRCm39) V670A probably damaging Het
Serpinb9c A T 13: 33,340,854 (GRCm39) C81* probably null Het
Sik1 A G 17: 32,067,771 (GRCm39) S435P probably benign Het
Slc35g2 G A 9: 100,435,329 (GRCm39) A114V probably damaging Het
Slc7a14 A T 3: 31,291,645 (GRCm39) V211E probably damaging Het
Snrpn A T 7: 59,637,204 (GRCm39) H37Q possibly damaging Het
Spock3 T A 8: 63,698,204 (GRCm39) C185* probably null Het
Tbc1d4 A G 14: 101,714,591 (GRCm39) S627P probably damaging Het
Tgoln1 T C 6: 72,592,653 (GRCm39) T276A probably benign Het
Tmem176b G A 6: 48,813,267 (GRCm39) T64I probably damaging Het
Tnpo2 T C 8: 85,776,742 (GRCm39) L483P probably damaging Het
Tpte T A 8: 22,808,355 (GRCm39) D163E probably benign Het
Trim36 A T 18: 46,329,229 (GRCm39) D70E probably benign Het
Umodl1 G A 17: 31,227,740 (GRCm39) probably null Het
Wdr90 T C 17: 26,074,173 (GRCm39) T691A probably benign Het
Zdhhc8 A G 16: 18,046,210 (GRCm39) S118P probably damaging Het
Zfp438 T C 18: 5,214,085 (GRCm39) E291G probably benign Het
Zfp879 C T 11: 50,723,428 (GRCm39) E543K 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
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
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'- CAGTTCTCACAATAGGGGAGG -3'
(R):5'- AGCATCTCCTTTGGCACCAAC -3'

Sequencing Primer
(F):5'- CTGGGAACTGTGAACTCCTTACTG -3'
(R):5'- TTTGGCACCAACTCCCCGG -3'
Posted On 2014-09-17