Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02153:Plxnb2'

282105

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plxnb2

Ensembl Gene

ENSMUSG00000036606

Gene Name

plexin B2

Synonyms

1110007H23Rik, Debt

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

IGL02153

Quality Score

Status

Chromosome

Chromosomal Location

89039752-89064960 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 89050016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 502 (E502*)

Ref Sequence

ENSEMBL: ENSMUSP00000104955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060808] [ENSMUST00000109331]

AlphaFold

B2RXS4

Predicted Effect

probably null
Transcript: ENSMUST00000060808
AA Change: E502*

SMART Domains

Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: E502*

Domain	Start	End	E-Value	Type
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
AA Change: E502*

SMART Domains

Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: E502*

Domain	Start	End	E-Value	Type
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: ENSMUST00000139372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197760

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	C	2: 152,283,161 (GRCm39)	I275T	probably benign	Het
Chd9	A	T	8: 91,683,122 (GRCm39)	K521*	probably null	Het
Csn3	A	T	5: 88,077,956 (GRCm39)	N154I	possibly damaging	Het
Dock2	A	G	11: 34,180,670 (GRCm39)	S1716P	probably benign	Het
Dock7	A	T	4: 98,846,304 (GRCm39)	S18T	probably benign	Het
Esrra	G	A	19: 6,891,190 (GRCm39)	T190I	probably benign	Het
F13b	T	C	1: 139,444,115 (GRCm39)	I483T	probably damaging	Het
Foxb1	T	A	9: 69,666,985 (GRCm39)	M182L	probably benign	Het
Fsip2	T	C	2: 82,809,065 (GRCm39)	F1795L	probably benign	Het
Gkn2	G	A	6: 87,350,390 (GRCm39)		probably null	Het
Gm8439	G	A	4: 120,466,787 (GRCm39)	A93T	unknown	Het
Ift22	T	C	5: 136,940,550 (GRCm39)	S72P	probably benign	Het
Kcnmb2	A	G	3: 32,232,993 (GRCm39)	K24E	probably damaging	Het
Kcnq3	C	A	15: 65,897,040 (GRCm39)	V287L	probably damaging	Het
Lrriq1	T	A	10: 103,006,340 (GRCm39)	M1262L	probably benign	Het
Mb21d2	A	G	16: 28,748,240 (GRCm39)	I59T	probably benign	Het
Mogat2	A	T	7: 98,872,761 (GRCm39)	M141K	possibly damaging	Het
Mtdh	C	T	15: 34,131,396 (GRCm39)	L409F	possibly damaging	Het
Muc5ac	C	T	7: 141,372,537 (GRCm39)	Q2724*	probably null	Het
Myo15a	T	G	11: 60,389,223 (GRCm39)	L2040R	probably damaging	Het
Nodal	C	T	10: 61,260,324 (GRCm39)	T325I	probably damaging	Het
Pappa	A	T	4: 65,215,674 (GRCm39)	T1194S	probably damaging	Het
Pcdhb13	A	C	18: 37,576,738 (GRCm39)	D372A	probably damaging	Het
Phf14	T	A	6: 11,934,015 (GRCm39)	N292K	probably damaging	Het
Pigr	T	A	1: 130,776,793 (GRCm39)		probably null	Het
Plcb1	T	C	2: 135,229,773 (GRCm39)	I1131T	probably benign	Het
Plch1	T	A	3: 63,688,772 (GRCm39)	D132V	probably damaging	Het
Prox2	T	C	12: 85,134,703 (GRCm39)	N526S	probably damaging	Het
Rdm1	T	A	11: 101,519,280 (GRCm39)		probably null	Het
Rxfp1	C	T	3: 79,567,427 (GRCm39)	E308K	probably benign	Het
Sgca	T	C	11: 94,854,110 (GRCm39)	T120A	probably damaging	Het
Sh3tc1	G	A	5: 35,860,696 (GRCm39)	R1054W	probably damaging	Het
Smarcal1	C	T	1: 72,672,214 (GRCm39)		probably benign	Het
Spata45	T	A	1: 190,771,958 (GRCm39)	M60K	probably benign	Het
St8sia6	T	C	2: 13,661,716 (GRCm39)	M372V	probably damaging	Het
Tas2r126	T	G	6: 42,411,598 (GRCm39)	S44A	probably benign	Het
Tcea3	T	A	4: 136,000,945 (GRCm39)		probably benign	Het
Thoc2l	A	G	5: 104,668,949 (GRCm39)	E1157G	probably benign	Het
Tln1	T	C	4: 43,546,857 (GRCm39)	I840V	possibly damaging	Het
Ttn	T	C	2: 76,728,685 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,187,471 (GRCm39)	Y3846*	probably null	Het
Usp47	G	A	7: 111,703,256 (GRCm39)	D1171N	probably benign	Het
Vmn2r114	G	A	17: 23,510,782 (GRCm39)	T566I	probably benign	Het
Wdr35	G	A	12: 9,058,535 (GRCm39)	R575Q	probably null	Het
Xkr5	A	T	8: 18,983,683 (GRCm39)	C454S	probably benign	Het

Other mutations in Plxnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16