Incidental Mutation 'R4773:Plxnb2'
ID 367716
Institutional Source Beutler Lab
Gene Symbol Plxnb2
Ensembl Gene ENSMUSG00000036606
Gene Name plexin B2
Synonyms 1110007H23Rik, Debt
MMRRC Submission 042411-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R4773 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 89039752-89064960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89051150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 356 (H356Q)
Ref Sequence ENSEMBL: ENSMUSP00000104955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060808] [ENSMUST00000109331]
AlphaFold B2RXS4
Predicted Effect probably benign
Transcript: ENSMUST00000060808
AA Change: H356Q

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: H356Q

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 benign
Transcript: ENSMUST00000109331
AA Change: H356Q

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: H356Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197760
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (89/89)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik A G 11: 50,982,089 (GRCm39) noncoding transcript Het
Actl7b T C 4: 56,740,972 (GRCm39) I129V probably benign Het
Adipor2 A G 6: 119,336,047 (GRCm39) L225P probably benign Het
Arhgap25 A G 6: 87,473,053 (GRCm39) F35L probably benign Het
Asah2 A T 19: 32,030,258 (GRCm39) M138K probably damaging Het
Asxl1 T A 2: 153,243,905 (GRCm39) M1486K probably damaging Het
B4galt4 T A 16: 38,572,658 (GRCm39) S114R probably benign Het
Brpf3 T G 17: 29,040,233 (GRCm39) S885A probably benign Het
Cacna1g G T 11: 94,302,298 (GRCm39) H1944N possibly damaging Het
Cby2 T A 14: 75,820,546 (GRCm39) Y393F probably damaging Het
Ccdc110 G A 8: 46,396,245 (GRCm39) C712Y probably damaging Het
Ccdc175 A T 12: 72,182,822 (GRCm39) I399N probably damaging Het
Cct8l1 A T 5: 25,722,754 (GRCm39) T490S probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Copa A G 1: 171,932,787 (GRCm39) N371D probably damaging Het
Cpeb1 A T 7: 81,005,695 (GRCm39) H381Q probably benign Het
Cyp2d40 T A 15: 82,645,763 (GRCm39) I81F possibly damaging Het
Dscc1 A T 15: 54,943,654 (GRCm39) D405E probably benign Het
Ece1 A G 4: 137,672,464 (GRCm39) D369G probably benign Het
Exd2 T C 12: 80,522,592 (GRCm39) V17A possibly damaging Het
Fam111a A T 19: 12,565,772 (GRCm39) N507I possibly damaging Het
Flnc T C 6: 29,445,038 (GRCm39) V719A possibly damaging Het
Fscb C T 12: 64,520,464 (GRCm39) G334D probably damaging Het
Glud1 T C 14: 34,043,782 (GRCm39) probably null Het
Gm8126 T A 14: 43,119,072 (GRCm39) Y180* probably null Het
Grip2 G A 6: 91,759,413 (GRCm39) P347L possibly damaging Het
H1f3 T C 13: 23,739,576 (GRCm39) S105P probably damaging Het
H60b C T 10: 22,164,644 (GRCm39) probably benign Het
Iqca1l A G 5: 24,755,596 (GRCm39) probably null Het
Itga6 T C 2: 71,652,788 (GRCm39) V217A probably benign Het
Kndc1 G A 7: 139,503,946 (GRCm39) W1083* probably null Het
Limch1 A T 5: 67,184,850 (GRCm39) D613V probably damaging Het
Lpl T A 8: 69,349,403 (GRCm39) C310S probably damaging Het
Marchf1 T A 8: 66,839,876 (GRCm39) C220S probably benign Het
Mbd5 A C 2: 49,164,623 (GRCm39) H308P probably damaging Het
Med13 T C 11: 86,167,746 (GRCm39) D2003G probably damaging Het
Mettl16 T A 11: 74,708,127 (GRCm39) V442D possibly damaging Het
Mstn A T 1: 53,101,267 (GRCm39) T115S probably benign Het
Mtcl2 G T 2: 156,872,489 (GRCm39) Q953K probably benign Het
Nfil3 A G 13: 53,122,050 (GRCm39) S285P probably damaging Het
Odad4 C A 11: 100,440,742 (GRCm39) N74K probably benign Het
Or10j3 A C 1: 173,031,796 (GRCm39) Y291S probably damaging Het
Or51a24 A G 7: 103,733,502 (GRCm39) S262P probably damaging Het
Otof A G 5: 30,552,026 (GRCm39) V321A probably benign Het
Pcdha8 G T 18: 37,127,626 (GRCm39) A703S probably damaging Het
Pcdhb18 A G 18: 37,623,507 (GRCm39) Y279C probably damaging Het
Pdgfa T C 5: 138,979,051 (GRCm39) D51G probably benign Het
Pdzd8 A G 19: 59,289,292 (GRCm39) Y703H probably damaging Het
Pecr G T 1: 72,306,594 (GRCm39) P229Q probably damaging Het
Phkg1 G T 5: 129,902,114 (GRCm39) probably null Het
Polr1b T C 2: 128,947,248 (GRCm39) I191T probably benign Het
Ppp4r3a A G 12: 101,049,026 (GRCm39) L35P possibly damaging Het
Rasa2 C T 9: 96,426,470 (GRCm39) G792D probably benign Het
Rps11-ps4 T C 12: 51,344,406 (GRCm39) noncoding transcript Het
Sema3g A G 14: 30,942,666 (GRCm39) D89G probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slfn8 A G 11: 82,908,219 (GRCm39) V108A probably damaging Het
Smg9 T A 7: 24,107,019 (GRCm39) M221K possibly damaging Het
Sos1 A G 17: 80,705,660 (GRCm39) S1304P probably damaging Het
Sqle C A 15: 59,189,688 (GRCm39) A110E possibly damaging Het
Stab2 G A 10: 86,743,235 (GRCm39) Q1154* probably null Het
Taf4b A G 18: 14,937,577 (GRCm39) T217A probably benign Het
Tex15 T C 8: 34,072,760 (GRCm39) V2769A probably benign Het
Tmem156 A T 5: 65,237,502 (GRCm39) C53S probably damaging Het
Tmtc3 T A 10: 100,293,001 (GRCm39) K452N possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tph1 T C 7: 46,306,376 (GRCm39) E195G probably damaging Het
Trpc6 T A 9: 8,609,852 (GRCm39) Y107N possibly damaging Het
Tsga10 G A 1: 37,874,606 (GRCm39) T93I probably damaging Het
Ttn T A 2: 76,571,778 (GRCm39) N26372Y probably damaging Het
Tubd1 T C 11: 86,446,128 (GRCm39) L256P possibly damaging Het
Txnrd2 C G 16: 18,259,569 (GRCm39) A126G probably benign Het
Vmn1r210 T G 13: 23,011,374 (GRCm39) K304T probably benign Het
Vps25 T C 11: 101,149,655 (GRCm39) S160P probably benign Het
Vrk3 T A 7: 44,424,900 (GRCm39) D438E probably benign Het
Vwa5b1 A G 4: 138,309,066 (GRCm39) L708P probably benign Het
Washc3 C T 10: 88,055,124 (GRCm39) Q105* probably null Het
Wdr83os T A 8: 85,807,410 (GRCm39) probably benign Het
Wwc1 T C 11: 35,758,123 (GRCm39) H741R probably benign Het
Zan T C 5: 137,434,575 (GRCm39) probably benign Het
Zdhhc4 A T 5: 143,311,931 (GRCm39) L14I possibly damaging Het
Zfp568 T A 7: 29,697,195 (GRCm39) D38E probably damaging 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
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
R7513:Plxnb2 UTSW 15 89,042,525 (GRCm39) critical splice acceptor site probably null
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'- ATCACGACTGCCCAGTGGATAG -3'
(R):5'- TGTCTTCAGCAGAGATGGC -3'

Sequencing Primer
(F):5'- TGGCACCCTGTGGATCAC -3'
(R):5'- CTTCAGCAGAGATGGCCGGAG -3'
Posted On 2015-12-29