Incidental Mutation 'R7513:Plxnb2'
ID 582255
Institutional Source Beutler Lab
Gene Symbol Plxnb2
Ensembl Gene ENSMUSG00000036606
Gene Name plexin B2
Synonyms 1110007H23Rik, Debt
MMRRC Submission 045586-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.938) question?
Stock # R7513 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 89039752-89064960 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 89042525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000051731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060808] [ENSMUST00000109331]
AlphaFold B2RXS4
Predicted Effect probably null
Transcript: ENSMUST00000060808
SMART Domains Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Sema 34 452 8.87e-92 SMART
PSI 470 521 1.94e-10 SMART
PSI 616 669 4.09e-1 SMART
PSI 761 804 7.02e-8 SMART
IPT 805 896 8.14e-19 SMART
IPT 897 983 1.1e-15 SMART
IPT 985 1096 5.06e-6 SMART
Pfam:Plexin_cytopl 1275 1809 1.6e-225 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109331
SMART Domains Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Sema 34 452 8.87e-92 SMART
PSI 470 521 1.94e-10 SMART
PSI 616 669 4.09e-1 SMART
PSI 761 804 7.02e-8 SMART
IPT 805 896 8.14e-19 SMART
IPT 897 983 1.1e-15 SMART
IPT 985 1096 5.06e-6 SMART
Pfam:Plexin_cytopl 1274 1809 4.4e-251 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for a targeted mutation of this gene die perinatally of exencephaly or survive and seem normal despite severe abnormalities in cerebellar layering and foliation; the external granule cell layer is disorganized due to continued proliferation and migration of differentiated granule cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,765,771 (GRCm39) W694* probably null Het
Accs T C 2: 93,670,437 (GRCm39) N256S possibly damaging Het
Agmo C T 12: 37,294,352 (GRCm39) T100I probably benign Het
Alox8 T C 11: 69,078,670 (GRCm39) D341G probably benign Het
Apol7c T A 15: 77,409,911 (GRCm39) E345V possibly damaging Het
Arl5a A G 2: 52,302,157 (GRCm39) F86L possibly damaging Het
AU040320 A G 4: 126,686,057 (GRCm39) E211G probably benign Het
B020011L13Rik T A 1: 117,729,149 (GRCm39) C219S probably damaging Het
Btaf1 T A 19: 36,955,803 (GRCm39) L579Q probably benign Het
Cd84 T A 1: 171,712,185 (GRCm39) V267E probably benign Het
Cdcp3 G A 7: 130,873,800 (GRCm39) G1709R unknown Het
Clec11a T C 7: 43,955,780 (GRCm39) E89G probably benign Het
Csrnp2 C A 15: 100,380,297 (GRCm39) E331D probably benign Het
Cyp2d12 C A 15: 82,442,621 (GRCm39) H355N probably benign Het
Ddx24 C A 12: 103,385,365 (GRCm39) G413* probably null Het
Dhx38 G A 8: 110,287,221 (GRCm39) P249L probably benign Het
Dip2a A T 10: 76,149,069 (GRCm39) M233K probably benign Het
Dip2b T A 15: 100,105,629 (GRCm39) probably null Het
Dmbt1 T C 7: 130,692,242 (GRCm39) S1003P unknown Het
Dna2 A G 10: 62,807,747 (GRCm39) D1033G probably benign Het
Dnah5 T C 15: 28,370,561 (GRCm39) S2834P probably benign Het
Dnah7b T G 1: 46,163,506 (GRCm39) S437A probably benign Het
Eif5 A T 12: 111,506,686 (GRCm39) I93F probably damaging Het
Fbxo47 A G 11: 97,747,055 (GRCm39) F337S probably damaging Het
Helz T C 11: 107,546,941 (GRCm39) I1086T probably damaging Het
Ifi208 A T 1: 173,523,220 (GRCm39) R497* probably null Het
Igfn1 T G 1: 135,887,705 (GRCm39) D2453A probably damaging Het
Ighg2c A T 12: 113,252,471 (GRCm39) L27Q Het
Jak1 C T 4: 101,048,848 (GRCm39) C10Y probably damaging Het
Kif7 T A 7: 79,360,776 (GRCm39) N200Y possibly damaging Het
Ktn1 G C 14: 47,901,541 (GRCm39) A100P possibly damaging Het
Lrsam1 T C 2: 32,843,497 (GRCm39) D136G probably benign Het
Man2c1 T C 9: 57,046,683 (GRCm39) L648P probably benign Het
Mki67 T C 7: 135,294,952 (GRCm39) I3116V probably benign Het
Mmp10 A T 9: 7,508,128 (GRCm39) D418V probably damaging Het
Mrpl24 A T 3: 87,829,734 (GRCm39) T107S probably benign Het
Mycbpap T A 11: 94,394,382 (GRCm39) D296V probably damaging Het
Mycn C A 12: 12,989,743 (GRCm39) A218S probably benign Het
Myo1f G T 17: 33,794,788 (GRCm39) W9C probably damaging Het
Nckap1 T A 2: 80,332,635 (GRCm39) K1074N possibly damaging Het
Neb T C 2: 52,099,552 (GRCm39) D4766G possibly damaging Het
Nhsl1 T C 10: 18,399,700 (GRCm39) S275P probably damaging Het
Or2d3c A G 7: 106,526,483 (GRCm39) F61S possibly damaging Het
Or5k16 T A 16: 58,736,295 (GRCm39) K236N probably damaging Het
Pam G A 1: 97,780,910 (GRCm39) P514S possibly damaging Het
Pcdha4 C T 18: 37,086,392 (GRCm39) L192F probably damaging Het
Per1 T A 11: 68,996,397 (GRCm39) D800E probably benign Het
Plcg2 C A 8: 118,306,592 (GRCm39) N315K probably damaging Het
Pnpla1 A G 17: 29,077,781 (GRCm39) probably benign Het
Pptc7 A T 5: 122,446,192 (GRCm39) probably null Het
Psg26 G T 7: 18,209,225 (GRCm39) S394R probably benign Het
Psmc1 C A 12: 100,081,773 (GRCm39) T125K probably benign Het
Ptgis T A 2: 167,067,203 (GRCm39) M125L probably benign Het
Rbms1 A G 2: 60,589,165 (GRCm39) Y323H probably damaging Het
Rgl2 G A 17: 34,151,529 (GRCm39) R191Q probably benign Het
Sirpb1a G A 3: 15,476,503 (GRCm39) T98I possibly damaging Het
Sirpb1b C A 3: 15,607,200 (GRCm39) E361* probably null Het
Slc13a4 A T 6: 35,260,272 (GRCm39) probably null Het
Spag9 T C 11: 94,002,909 (GRCm39) S1140P probably damaging Het
Spata31e4 T A 13: 50,856,909 (GRCm39) I849N probably benign Het
Tas2r140 A G 6: 40,469,084 (GRCm39) N305D probably damaging Het
Tenm2 G A 11: 35,942,727 (GRCm39) A1314V probably benign Het
Tgm3 A G 2: 129,866,324 (GRCm39) T81A probably benign Het
Timeless T C 10: 128,085,399 (GRCm39) V839A probably damaging Het
Tmem132a A G 19: 10,837,492 (GRCm39) I606T probably damaging Het
Tox T A 4: 6,741,507 (GRCm39) M158L probably benign Het
Trpc2 A T 7: 101,739,275 (GRCm39) M549L probably damaging Het
Trpm5 C T 7: 142,635,572 (GRCm39) R600Q possibly damaging Het
Trpv1 A G 11: 73,131,367 (GRCm39) N302D probably damaging Het
Ttn C T 2: 76,681,940 (GRCm39) R1019H Het
Ttn G T 2: 76,775,307 (GRCm39) H1958N unknown Het
Usp32 A T 11: 84,917,938 (GRCm39) Y769* probably null Het
Vim A T 2: 13,583,443 (GRCm39) Q255L possibly damaging Het
Vmn1r84 T C 7: 12,095,994 (GRCm39) H233R probably benign Het
Xirp2 T A 2: 67,341,108 (GRCm39) H1116Q possibly damaging Het
Zc3h18 G T 8: 123,134,993 (GRCm39) R580L unknown Het
Zfp267 T A 3: 36,218,792 (GRCm39) F272I possibly damaging Het
Zfp442 A T 2: 150,250,676 (GRCm39) C409S unknown Het
Zfy1 A T Y: 759,852 (GRCm39) I20K unknown Het
Other mutations in Plxnb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Plxnb2 APN 15 89,046,569 (GRCm39) splice site probably benign
IGL01574:Plxnb2 APN 15 89,046,886 (GRCm39) splice site probably null
IGL01695:Plxnb2 APN 15 89,041,417 (GRCm39) missense possibly damaging 0.96
IGL01763:Plxnb2 APN 15 89,046,184 (GRCm39) splice site probably null
IGL01921:Plxnb2 APN 15 89,048,474 (GRCm39) missense possibly damaging 0.78
IGL02129:Plxnb2 APN 15 89,044,613 (GRCm39) missense probably benign 0.04
IGL02153:Plxnb2 APN 15 89,050,016 (GRCm39) nonsense probably null
IGL02637:Plxnb2 APN 15 89,048,260 (GRCm39) missense possibly damaging 0.53
IGL02892:Plxnb2 APN 15 89,045,425 (GRCm39) critical splice donor site probably null
IGL03108:Plxnb2 APN 15 89,042,234 (GRCm39) missense probably benign 0.32
IGL03115:Plxnb2 APN 15 89,046,641 (GRCm39) splice site probably benign
P0040:Plxnb2 UTSW 15 89,047,138 (GRCm39) missense probably damaging 1.00
R0022:Plxnb2 UTSW 15 89,047,479 (GRCm39) critical splice donor site probably null
R0095:Plxnb2 UTSW 15 89,049,534 (GRCm39) missense probably benign
R0103:Plxnb2 UTSW 15 89,045,972 (GRCm39) missense possibly damaging 0.85
R0544:Plxnb2 UTSW 15 89,042,816 (GRCm39) splice site probably benign
R0671:Plxnb2 UTSW 15 89,042,184 (GRCm39) missense probably benign 0.14
R1279:Plxnb2 UTSW 15 89,046,524 (GRCm39) missense probably benign 0.02
R1530:Plxnb2 UTSW 15 89,051,395 (GRCm39) missense probably benign
R1542:Plxnb2 UTSW 15 89,050,124 (GRCm39) missense probably damaging 1.00
R1610:Plxnb2 UTSW 15 89,042,696 (GRCm39) missense probably damaging 1.00
R1686:Plxnb2 UTSW 15 89,046,665 (GRCm39) missense probably damaging 1.00
R1702:Plxnb2 UTSW 15 89,046,187 (GRCm39) critical splice donor site probably null
R1996:Plxnb2 UTSW 15 89,042,971 (GRCm39) missense probably benign 0.13
R1997:Plxnb2 UTSW 15 89,042,971 (GRCm39) missense probably benign 0.13
R2031:Plxnb2 UTSW 15 89,047,013 (GRCm39) nonsense probably null
R2049:Plxnb2 UTSW 15 89,043,205 (GRCm39) missense probably damaging 1.00
R2072:Plxnb2 UTSW 15 89,042,654 (GRCm39) missense probably damaging 1.00
R2076:Plxnb2 UTSW 15 89,042,229 (GRCm39) missense probably damaging 1.00
R2140:Plxnb2 UTSW 15 89,040,765 (GRCm39) missense probably benign 0.04
R2418:Plxnb2 UTSW 15 89,045,272 (GRCm39) missense possibly damaging 0.72
R2419:Plxnb2 UTSW 15 89,045,272 (GRCm39) missense possibly damaging 0.72
R3752:Plxnb2 UTSW 15 89,041,458 (GRCm39) splice site probably benign
R3825:Plxnb2 UTSW 15 89,050,602 (GRCm39) missense probably benign 0.05
R4154:Plxnb2 UTSW 15 89,043,845 (GRCm39) missense probably damaging 0.98
R4197:Plxnb2 UTSW 15 89,041,221 (GRCm39) missense probably damaging 1.00
R4385:Plxnb2 UTSW 15 89,044,826 (GRCm39) missense probably damaging 0.96
R4434:Plxnb2 UTSW 15 89,047,006 (GRCm39) missense probably damaging 1.00
R4678:Plxnb2 UTSW 15 89,045,131 (GRCm39) missense probably benign 0.37
R4717:Plxnb2 UTSW 15 89,041,622 (GRCm39) nonsense probably null
R4773:Plxnb2 UTSW 15 89,051,150 (GRCm39) missense probably benign 0.06
R4905:Plxnb2 UTSW 15 89,041,614 (GRCm39) missense probably damaging 1.00
R5368:Plxnb2 UTSW 15 89,043,796 (GRCm39) missense possibly damaging 0.94
R5418:Plxnb2 UTSW 15 89,050,694 (GRCm39) missense probably benign 0.00
R5484:Plxnb2 UTSW 15 89,048,412 (GRCm39) splice site probably null
R5520:Plxnb2 UTSW 15 89,051,746 (GRCm39) missense possibly damaging 0.65
R5566:Plxnb2 UTSW 15 89,048,223 (GRCm39) missense probably benign 0.05
R5568:Plxnb2 UTSW 15 89,041,638 (GRCm39) missense probably damaging 1.00
R5619:Plxnb2 UTSW 15 89,047,012 (GRCm39) missense possibly damaging 0.92
R5685:Plxnb2 UTSW 15 89,051,235 (GRCm39) missense probably damaging 1.00
R5688:Plxnb2 UTSW 15 89,042,899 (GRCm39) missense probably damaging 1.00
R5809:Plxnb2 UTSW 15 89,051,774 (GRCm39) missense possibly damaging 0.61
R5813:Plxnb2 UTSW 15 89,044,962 (GRCm39) missense possibly damaging 0.81
R5866:Plxnb2 UTSW 15 89,051,775 (GRCm39) missense probably damaging 1.00
R6016:Plxnb2 UTSW 15 89,045,225 (GRCm39) missense possibly damaging 0.55
R6117:Plxnb2 UTSW 15 89,042,203 (GRCm39) missense probably benign 0.04
R6187:Plxnb2 UTSW 15 89,051,461 (GRCm39) missense probably damaging 1.00
R6260:Plxnb2 UTSW 15 89,049,494 (GRCm39) missense probably benign 0.22
R6263:Plxnb2 UTSW 15 89,046,189 (GRCm39) missense probably damaging 0.99
R6269:Plxnb2 UTSW 15 89,044,916 (GRCm39) missense probably benign 0.18
R6351:Plxnb2 UTSW 15 89,041,973 (GRCm39) missense possibly damaging 0.95
R6522:Plxnb2 UTSW 15 89,048,629 (GRCm39) missense probably benign 0.18
R6856:Plxnb2 UTSW 15 89,048,523 (GRCm39) missense probably benign 0.27
R6930:Plxnb2 UTSW 15 89,044,592 (GRCm39) missense probably benign
R7354:Plxnb2 UTSW 15 89,049,928 (GRCm39) missense possibly damaging 0.92
R7522:Plxnb2 UTSW 15 89,045,977 (GRCm39) missense probably benign 0.20
R7730:Plxnb2 UTSW 15 89,046,533 (GRCm39) missense probably benign
R7766:Plxnb2 UTSW 15 89,045,474 (GRCm39) missense probably benign 0.01
R7781:Plxnb2 UTSW 15 89,041,225 (GRCm39) missense possibly damaging 0.89
R8126:Plxnb2 UTSW 15 89,047,506 (GRCm39) missense probably benign
R8131:Plxnb2 UTSW 15 89,042,916 (GRCm39) missense probably damaging 1.00
R8372:Plxnb2 UTSW 15 89,042,696 (GRCm39) missense probably damaging 1.00
R8736:Plxnb2 UTSW 15 89,046,261 (GRCm39) missense probably damaging 1.00
R8772:Plxnb2 UTSW 15 89,046,949 (GRCm39) missense probably damaging 1.00
R9022:Plxnb2 UTSW 15 89,048,471 (GRCm39) missense possibly damaging 0.59
R9044:Plxnb2 UTSW 15 89,044,566 (GRCm39) splice site probably benign
R9253:Plxnb2 UTSW 15 89,052,015 (GRCm39) missense probably benign
R9398:Plxnb2 UTSW 15 89,045,122 (GRCm39) missense probably benign 0.02
R9562:Plxnb2 UTSW 15 89,050,136 (GRCm39) missense probably damaging 1.00
R9568:Plxnb2 UTSW 15 89,045,160 (GRCm39) nonsense probably null
R9613:Plxnb2 UTSW 15 89,048,496 (GRCm39) missense probably benign 0.01
X0027:Plxnb2 UTSW 15 89,044,916 (GRCm39) missense probably benign 0.18
Z1177:Plxnb2 UTSW 15 89,043,299 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTAGTCCCAGTTCAGGTTGG -3'
(R):5'- TGACTTGGACCTTACCTCCCAG -3'

Sequencing Primer
(F):5'- CAGGGTCTTGGGGTCCACTAG -3'
(R):5'- CCTAAGCAAGGGGGATAGT -3'
Posted On 2019-10-17