Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03115:Plxnb2'

419402

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plxnb2

Ensembl Gene

ENSMUSG00000036606

Gene Name

plexin B2

Synonyms

Debt, 1110007H23Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

IGL03115

Quality Score

Status

Chromosome

Chromosomal Location

89155549-89180788 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 89162438 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104955 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000060808

SMART Domains

Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606

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 benign
Transcript: ENSMUST00000109331

SMART Domains

Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230393

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	A	14: 68,571,353	H302L	probably damaging	Het
Adamts12	T	A	15: 11,263,336	C595S	probably damaging	Het
Arid2	G	A	15: 96,370,273	V756I	probably damaging	Het
Asah1	A	T	8: 41,360,299	W26R	possibly damaging	Het
Brinp1	C	T	4: 68,904,736		probably null	Het
Cers2	A	G	3: 95,321,352	D162G	probably damaging	Het
Clasp1	G	T	1: 118,501,323	E106*	probably null	Het
Col12a1	T	C	9: 79,681,437	E1132G	probably damaging	Het
Dhdds	G	T	4: 133,982,871	H196N	probably benign	Het
Eps8	T	C	6: 137,527,381	D118G	probably damaging	Het
Fmo9	A	G	1: 166,677,651	S7P	probably damaging	Het
Gamt	A	G	10: 80,258,438	L197P	probably damaging	Het
Grb7	A	G	11: 98,451,119	I82V	probably damaging	Het
Hectd2	T	C	19: 36,599,721		probably null	Het
Ilk	T	C	7: 105,740,335	V83A	probably damaging	Het
Kif21a	T	A	15: 90,985,395	I418F	probably damaging	Het
Kndc1	A	G	7: 139,921,509	I905V	probably benign	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Morc3	T	C	16: 93,871,083	I710T	probably damaging	Het
Nefm	T	C	14: 68,120,279		probably benign	Het
Olfr452	A	G	6: 42,790,665	T209A	probably benign	Het
Olfr937	C	A	9: 39,059,963	R234S	probably damaging	Het
Olfr975	T	C	9: 39,950,744	E9G	probably damaging	Het
Pard6g	T	G	18: 80,079,853	L34W	probably damaging	Het
Patj	C	T	4: 98,443,803	S562L	probably damaging	Het
Pcsk4	A	G	10: 80,329,049	I61T	probably damaging	Het
Pcsk7	T	A	9: 45,914,372	H300Q	probably damaging	Het
Pip5kl1	A	G	2: 32,580,021	D288G	probably damaging	Het
Poldip2	T	C	11: 78,521,144		probably benign	Het
Ralgapa2	T	C	2: 146,424,814	Y614C	probably damaging	Het
Rarres1	C	A	3: 67,495,812		probably null	Het
Samd3	C	T	10: 26,271,708	T427M	probably damaging	Het
Skap1	A	G	11: 96,702,620	I98V	probably benign	Het
Skint11	T	C	4: 114,244,623	S87P	probably damaging	Het
Slc22a22	T	G	15: 57,263,274	E133A	probably damaging	Het
Slc23a2	T	C	2: 132,091,265	Y91C	probably damaging	Het
Slc6a20b	T	A	9: 123,597,338	E494V	possibly damaging	Het
Slco1a4	A	C	6: 141,817,859	M377R	probably damaging	Het
Slco1a4	A	T	6: 141,819,603	D304E	probably benign	Het
Srpk2	T	C	5: 23,524,618		probably null	Het
Supt3	T	G	17: 45,041,227	C271W	probably damaging	Het
Taar7d	C	A	10: 24,027,641	F140L	probably benign	Het
Tmbim7	T	C	5: 3,679,158	*225Q	probably null	Het
Tpst1	T	C	5: 130,101,911	I74T	probably damaging	Het
Utp3	T	C	5: 88,555,320	V236A	possibly damaging	Het
Vmn2r55	A	T	7: 12,670,631	F282I	probably damaging	Het
Vwa5b1	A	T	4: 138,600,149	I372N	possibly damaging	Het
Wtip	C	T	7: 34,125,533	A209T	probably damaging	Het
Zbbx	T	C	3: 75,078,560	D395G	probably benign	Het
Zfp273	A	T	13: 67,825,650	H299L	probably damaging	Het
Zfp459	G	A	13: 67,408,677	R96*	probably null	Het

Other mutations in Plxnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Plxnb2	APN	15	89162366	splice site	probably benign
IGL01574:Plxnb2	APN	15	89162683	splice site	probably null
IGL01695:Plxnb2	APN	15	89157214	missense	possibly damaging	0.96
IGL01763:Plxnb2	APN	15	89161981	splice site	probably null
IGL01921:Plxnb2	APN	15	89164271	missense	possibly damaging	0.78
IGL02129:Plxnb2	APN	15	89160410	missense	probably benign	0.04
IGL02153:Plxnb2	APN	15	89165813	nonsense	probably null
IGL02637:Plxnb2	APN	15	89164057	missense	possibly damaging	0.53
IGL02892:Plxnb2	APN	15	89161222	critical splice donor site	probably null
IGL03108:Plxnb2	APN	15	89158031	missense	probably benign	0.32
P0040:Plxnb2	UTSW	15	89162935	missense	probably damaging	1.00
R0022:Plxnb2	UTSW	15	89163276	critical splice donor site	probably null
R0095:Plxnb2	UTSW	15	89165331	missense	probably benign
R0103:Plxnb2	UTSW	15	89161769	missense	possibly damaging	0.85
R0544:Plxnb2	UTSW	15	89158613	splice site	probably benign
R0671:Plxnb2	UTSW	15	89157981	missense	probably benign	0.14
R1279:Plxnb2	UTSW	15	89162321	missense	probably benign	0.02
R1530:Plxnb2	UTSW	15	89167192	missense	probably benign
R1542:Plxnb2	UTSW	15	89165921	missense	probably damaging	1.00
R1610:Plxnb2	UTSW	15	89158493	missense	probably damaging	1.00
R1686:Plxnb2	UTSW	15	89162462	missense	probably damaging	1.00
R1702:Plxnb2	UTSW	15	89161984	critical splice donor site	probably null
R1996:Plxnb2	UTSW	15	89158768	missense	probably benign	0.13
R1997:Plxnb2	UTSW	15	89158768	missense	probably benign	0.13
R2031:Plxnb2	UTSW	15	89162810	nonsense	probably null
R2049:Plxnb2	UTSW	15	89159002	missense	probably damaging	1.00
R2072:Plxnb2	UTSW	15	89158451	missense	probably damaging	1.00
R2076:Plxnb2	UTSW	15	89158026	missense	probably damaging	1.00
R2140:Plxnb2	UTSW	15	89156562	missense	probably benign	0.04
R2418:Plxnb2	UTSW	15	89161069	missense	possibly damaging	0.72
R2419:Plxnb2	UTSW	15	89161069	missense	possibly damaging	0.72
R3752:Plxnb2	UTSW	15	89157255	splice site	probably benign
R3825:Plxnb2	UTSW	15	89166399	missense	probably benign	0.05
R4154:Plxnb2	UTSW	15	89159642	missense	probably damaging	0.98
R4197:Plxnb2	UTSW	15	89157018	missense	probably damaging	1.00
R4385:Plxnb2	UTSW	15	89160623	missense	probably damaging	0.96
R4434:Plxnb2	UTSW	15	89162803	missense	probably damaging	1.00
R4678:Plxnb2	UTSW	15	89160928	missense	probably benign	0.37
R4717:Plxnb2	UTSW	15	89157419	nonsense	probably null
R4773:Plxnb2	UTSW	15	89166947	missense	probably benign	0.06
R4905:Plxnb2	UTSW	15	89157411	missense	probably damaging	1.00
R5368:Plxnb2	UTSW	15	89159593	missense	possibly damaging	0.94
R5418:Plxnb2	UTSW	15	89166491	missense	probably benign	0.00
R5484:Plxnb2	UTSW	15	89164209	splice site	probably null
R5520:Plxnb2	UTSW	15	89167543	missense	possibly damaging	0.65
R5566:Plxnb2	UTSW	15	89164020	missense	probably benign	0.05
R5568:Plxnb2	UTSW	15	89157435	missense	probably damaging	1.00
R5619:Plxnb2	UTSW	15	89162809	missense	possibly damaging	0.92
R5685:Plxnb2	UTSW	15	89167032	missense	probably damaging	1.00
R5688:Plxnb2	UTSW	15	89158696	missense	probably damaging	1.00
R5809:Plxnb2	UTSW	15	89167571	missense	possibly damaging	0.61
R5813:Plxnb2	UTSW	15	89160759	missense	possibly damaging	0.81
R5866:Plxnb2	UTSW	15	89167572	missense	probably damaging	1.00
R6016:Plxnb2	UTSW	15	89161022	missense	possibly damaging	0.55
R6117:Plxnb2	UTSW	15	89158000	missense	probably benign	0.04
R6187:Plxnb2	UTSW	15	89167258	missense	probably damaging	1.00
R6260:Plxnb2	UTSW	15	89165291	missense	probably benign	0.22
R6263:Plxnb2	UTSW	15	89161986	missense	probably damaging	0.99
R6269:Plxnb2	UTSW	15	89160713	missense	probably benign	0.18
R6351:Plxnb2	UTSW	15	89157770	missense	possibly damaging	0.95
R6522:Plxnb2	UTSW	15	89164426	missense	probably benign	0.18
R6856:Plxnb2	UTSW	15	89164320	missense	probably benign	0.27
R6930:Plxnb2	UTSW	15	89160389	missense	probably benign
R7354:Plxnb2	UTSW	15	89165725	missense	possibly damaging	0.92
R7513:Plxnb2	UTSW	15	89158322	critical splice acceptor site	probably null
R7522:Plxnb2	UTSW	15	89161774	missense	probably benign	0.20
R7730:Plxnb2	UTSW	15	89162330	missense	probably benign
R7766:Plxnb2	UTSW	15	89161271	missense	probably benign	0.01
R7781:Plxnb2	UTSW	15	89157022	missense	possibly damaging	0.89
X0027:Plxnb2	UTSW	15	89160713	missense	probably benign	0.18

Posted On

2016-08-02