Incidental Mutation 'R5809:Plxnb2'
ID 448936
Institutional Source Beutler Lab
Gene Symbol Plxnb2
Ensembl Gene ENSMUSG00000036606
Gene Name plexin B2
Synonyms 1110007H23Rik, Debt
MMRRC Submission 043394-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.938) question?
Stock # R5809 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 89039752-89064960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89051774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 148 (D148E)
Ref Sequence ENSEMBL: ENSMUSP00000051731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060808] [ENSMUST00000109331]
AlphaFold B2RXS4
Predicted Effect possibly damaging
Transcript: ENSMUST00000060808
AA Change: D148E

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: D148E

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 possibly damaging
Transcript: ENSMUST00000109331
AA Change: D148E

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: D148E

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 99% (77/78)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik A G 8: 12,329,556 (GRCm39) S4G unknown Het
AA623943 T C 11: 94,703,828 (GRCm39) noncoding transcript Het
Abca13 T A 11: 9,243,692 (GRCm39) S1852T probably damaging Het
Ackr2 G A 9: 121,738,540 (GRCm39) C305Y probably damaging Het
Aebp1 T C 11: 5,820,257 (GRCm39) V411A probably benign Het
Akp3 G A 1: 87,054,270 (GRCm39) R269H probably benign Het
Alox15 C A 11: 70,241,708 (GRCm39) G58W probably damaging Het
Ankle2 A G 5: 110,385,856 (GRCm39) N369S probably damaging Het
Ankrd28 T A 14: 31,465,311 (GRCm39) I289L probably benign Het
Atp13a4 T A 16: 29,252,805 (GRCm39) T714S possibly damaging Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Blm A T 7: 80,114,592 (GRCm39) L1159Q probably damaging Het
Caskin1 G A 17: 24,723,521 (GRCm39) V770I probably benign Het
Ccdc148 T A 2: 58,713,657 (GRCm39) H498L probably damaging Het
Cdh26 T A 2: 178,101,919 (GRCm39) Y179* probably null Het
Cela2a T A 4: 141,552,864 (GRCm39) T38S probably benign Het
Cep350 A T 1: 155,809,087 (GRCm39) N496K probably damaging Het
Cep89 A G 7: 35,117,151 (GRCm39) Y251C probably damaging Het
Cluh T C 11: 74,552,526 (GRCm39) S524P probably damaging Het
Cpeb4 T C 11: 31,822,801 (GRCm39) S172P probably damaging Het
Ctnnd2 T C 15: 30,847,523 (GRCm39) S705P probably damaging Het
Dock2 T G 11: 34,212,445 (GRCm39) D1232A probably benign Het
Donson T C 16: 91,484,738 (GRCm39) N9S possibly damaging Het
Gdf9 T C 11: 53,324,381 (GRCm39) L50P probably benign Het
Gm10300 C T 4: 131,802,458 (GRCm39) probably benign Het
Gm8369 A G 19: 11,482,248 (GRCm39) probably benign Het
Gm8674 T A 13: 50,055,924 (GRCm39) noncoding transcript Het
Hepacam T A 9: 37,296,101 (GRCm39) S417R possibly damaging Het
Hibch T A 1: 52,892,859 (GRCm39) L23Q probably benign Het
Hmcn1 G A 1: 150,525,358 (GRCm39) R3389C probably damaging Het
Hsp90ab1 G T 17: 45,881,575 (GRCm39) probably benign Het
Hunk C A 16: 90,272,791 (GRCm39) T365K probably damaging Het
Il12a A T 3: 68,602,595 (GRCm39) probably benign Het
Ints13 A G 6: 146,477,847 (GRCm39) V34A probably benign Het
Intu A C 3: 40,634,020 (GRCm39) M418L probably damaging Het
Khdc4 A G 3: 88,616,192 (GRCm39) R460G probably damaging Het
Klra9 A G 6: 130,156,036 (GRCm39) S240P probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ndrg1 A G 15: 66,802,699 (GRCm39) probably benign Het
Or11g24 T C 14: 50,662,905 (GRCm39) *310Q probably null Het
Or5k17 T C 16: 58,746,860 (GRCm39) T25A probably benign Het
Pate6 C T 9: 35,700,297 (GRCm39) C96Y probably damaging Het
Pax7 A G 4: 139,557,682 (GRCm39) S30P probably damaging Het
Pdcd11 A T 19: 47,082,247 (GRCm39) T54S probably benign Het
Pex19 T C 1: 171,958,306 (GRCm39) V95A probably damaging Het
Pkhd1l1 A G 15: 44,383,103 (GRCm39) I1121V probably benign Het
Pklr A T 3: 89,049,091 (GRCm39) I146F probably benign Het
Plcb1 T C 2: 135,104,164 (GRCm39) Y278H possibly damaging Het
Plcl1 T A 1: 55,735,160 (GRCm39) I167N probably damaging Het
Plekhh1 A T 12: 79,125,461 (GRCm39) I1241F probably benign Het
Pthlh T C 6: 147,158,745 (GRCm39) I72V probably damaging Het
Ptpru C T 4: 131,513,067 (GRCm39) R880Q probably benign Het
Rrp36 T C 17: 46,978,932 (GRCm39) K209E probably damaging Het
Scarb1 A G 5: 125,381,286 (GRCm39) V86A probably damaging Het
Sh2d7 A C 9: 54,446,860 (GRCm39) S37R probably benign Het
Slc13a2 A T 11: 78,288,647 (GRCm39) V543E probably damaging Het
Smarcal1 A G 1: 72,630,296 (GRCm39) T117A probably benign Het
Smok2a A G 17: 13,445,865 (GRCm39) R481G possibly damaging Het
Smr2 G A 5: 88,256,699 (GRCm39) A126T probably benign Het
Sspo G T 6: 48,436,979 (GRCm39) W1304C possibly damaging Het
Svep1 A G 4: 58,116,524 (GRCm39) S909P possibly damaging Het
Tchh A T 3: 93,352,880 (GRCm39) K773N unknown Het
Tmem156 T C 5: 65,232,950 (GRCm39) N140S possibly damaging Het
Tmem213 T C 6: 38,092,589 (GRCm39) I107T possibly damaging Het
Tpd52l2 A G 2: 181,153,372 (GRCm39) Y161C probably damaging Het
Trappc8 C T 18: 20,951,139 (GRCm39) A1436T probably benign Het
Ubr3 A G 2: 69,795,855 (GRCm39) Y933C possibly damaging Het
Ufm1 A T 3: 53,765,303 (GRCm39) probably benign Het
Wdr27 A T 17: 15,103,931 (GRCm39) L725Q probably damaging Het
Zdbf2 A G 1: 63,345,035 (GRCm39) D1138G possibly damaging Het
Zkscan16 G A 4: 58,946,481 (GRCm39) V119M probably damaging Het
Zmat5 A G 11: 4,672,431 (GRCm39) D16G 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
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
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'- AAAGGCTGCGACAAACTGC -3'
(R):5'- AAGCGGTGCTCACTGACAAC -3'

Sequencing Primer
(F):5'- CTGCGACAAACTGCTGAGTATTCG -3'
(R):5'- GGTGCTCACTGACAACTTCAAC -3'
Posted On 2016-12-15