Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01695:Plxnb2'

104230

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: 0.938) question?

Stock #

IGL01695

Quality Score

Status

Chromosome

Chromosomal Location

89039752-89064960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89041417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1749 (I1749V)

Ref Sequence

ENSEMBL: ENSMUSP00000104955 (fasta)

Gene Model

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

AlphaFold

B2RXS4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060808
AA Change: I1749V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: I1749V

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

possibly damaging
Transcript: ENSMUST00000109331
AA Change: I1749V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: I1749V

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: ENSMUST00000139372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229966

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b2	T	A	7: 81,126,687 (GRCm39)		probably benign	Het
Arfgef3	T	C	10: 18,479,167 (GRCm39)	T1483A	probably benign	Het
Arl5a	A	T	2: 52,302,117 (GRCm39)	I99N	probably damaging	Het
Bahcc1	G	A	11: 120,167,435 (GRCm39)	G1279R	probably benign	Het
Bbs5	A	G	2: 69,479,434 (GRCm39)	N43S	probably damaging	Het
Bltp2	T	C	11: 78,156,019 (GRCm39)	V177A	probably benign	Het
Calhm5	A	G	10: 33,968,198 (GRCm39)	V285A	possibly damaging	Het
Cdh23	C	T	10: 60,167,612 (GRCm39)	V1795M	probably benign	Het
Cep350	T	C	1: 155,819,904 (GRCm39)	E353G	probably damaging	Het
Cps1	A	T	1: 67,236,194 (GRCm39)	I976L	probably benign	Het
Ctdp1	A	T	18: 80,492,841 (GRCm39)	S551R	probably damaging	Het
Cyp2b19	C	T	7: 26,458,489 (GRCm39)	T68I	probably damaging	Het
Efcab3	A	T	11: 104,626,889 (GRCm39)	E864D	probably damaging	Het
Esr2	A	G	12: 76,192,093 (GRCm39)	S312P	probably damaging	Het
Gm6408	A	G	5: 146,418,939 (GRCm39)		probably benign	Het
Krt9	A	T	11: 100,082,263 (GRCm39)		probably null	Het
Myh6	T	C	14: 55,194,870 (GRCm39)	T662A	probably benign	Het
Ntn1	T	C	11: 68,117,430 (GRCm39)	D473G	probably benign	Het
Or51a7	T	C	7: 102,614,790 (GRCm39)	F161S	probably damaging	Het
Piezo1	A	T	8: 123,222,248 (GRCm39)	C961S	possibly damaging	Het
Pik3c2a	T	C	7: 116,016,753 (GRCm39)	T335A	possibly damaging	Het
Plaa	A	T	4: 94,462,274 (GRCm39)	Y140*	probably null	Het
Ppp1r9a	T	A	6: 5,064,003 (GRCm39)	N555K	probably damaging	Het
Ptprn2	T	A	12: 116,805,008 (GRCm39)	H174Q	probably benign	Het
Reln	G	A	5: 22,125,436 (GRCm39)	T2749M	probably damaging	Het
Scarf1	A	G	11: 75,412,783 (GRCm39)	N384S	probably damaging	Het
Scrt1	T	A	15: 76,403,150 (GRCm39)	H280L	unknown	Het
Serpina1f	C	A	12: 103,659,943 (GRCm39)	C113F	probably damaging	Het
Setdb2	A	T	14: 59,639,742 (GRCm39)		probably benign	Het
Strc	A	G	2: 121,205,779 (GRCm39)	L830P	probably damaging	Het
Tifab	T	C	13: 56,324,198 (GRCm39)	S82G	probably benign	Het
Tmem217	T	A	17: 29,745,322 (GRCm39)	H136L	probably damaging	Het
Trio	T	C	15: 27,773,087 (GRCm39)	E715G	probably damaging	Het
Ttn	A	T	2: 76,774,360 (GRCm39)	M2182K	probably damaging	Het
Ube2d1	T	C	10: 71,098,082 (GRCm39)	D12G	probably damaging	Het
Utrn	T	C	10: 12,621,086 (GRCm39)	D195G	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
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
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

2014-01-21