Mutagenetix > Incidental Mutation

Incidental Mutation 'R6016:Plxnb2'

478615

Institutional Source

Beutler Lab

Gene Symbol

Plxnb2

Ensembl Gene

ENSMUSG00000036606

Gene Name

plexin B2

Synonyms

Debt, 1110007H23Rik

MMRRC Submission

043255-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R6016 (G1)

Quality Score

186.009

Status

Not validated

Chromosome

Chromosomal Location

89155549-89180788 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89161022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1074 (T1074S)

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: T1074S

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: T1074S

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
AA Change: T1074S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: T1074S

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: ENSMUST00000143014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230393

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol9b	T	C	15: 77,735,858 (GRCm38)	S285P	probably damaging	Het
Casz1	C	A	4: 148,934,584 (GRCm38)	N447K	probably damaging	Het
Cltb	T	C	13: 54,606,667 (GRCm38)	T71A	possibly damaging	Het
Dcaf12	A	G	4: 41,313,267 (GRCm38)	F93L	probably damaging	Het
Dnah5	T	C	15: 28,327,884 (GRCm38)	Y2135H	probably damaging	Het
Entpd2	C	T	2: 25,398,556 (GRCm38)	R191W	probably damaging	Het
Gm17067	G	T	7: 42,708,230 (GRCm38)	P283T	probably benign	Het
Gm3250	A	G	10: 77,782,533 (GRCm38)		probably benign	Het
Gne	T	C	4: 44,039,063 (GRCm38)	E532G	probably damaging	Het
Gsdmc3	T	G	15: 63,868,412 (GRCm38)	D86A	probably benign	Het
Hs3st2	A	G	7: 121,500,699 (GRCm38)	H256R	probably damaging	Het
Il19	T	A	1: 130,935,981 (GRCm38)	D16V	probably damaging	Het
Lats2	A	T	14: 57,734,175 (GRCm38)	N14K	probably damaging	Het
Mill2	G	T	7: 18,856,448 (GRCm38)	S151I	probably benign	Het
Ncapg2	G	A	12: 116,426,607 (GRCm38)	R392H	probably damaging	Het
Nop56	T	C	2: 130,276,625 (GRCm38)		probably null	Het
Olfr1344	A	T	7: 6,440,614 (GRCm38)	H238L	probably benign	Het
Olfr467	A	T	7: 107,815,012 (GRCm38)	I143F	probably benign	Het
Olfr761	A	T	17: 37,952,076 (GRCm38)	V316D	probably benign	Het
Pde1a	T	C	2: 79,865,062 (GRCm38)	R446G	probably benign	Het
Pes1	T	A	11: 3,978,004 (GRCm38)	M552K	possibly damaging	Het
Psg23	G	T	7: 18,612,187 (GRCm38)	H194Q	probably benign	Het
Rprd2	A	G	3: 95,787,373 (GRCm38)	V116A	probably damaging	Het
Shkbp1	A	G	7: 27,354,401 (GRCm38)	V124A	possibly damaging	Het
Slc38a8	A	T	8: 119,494,305 (GRCm38)		probably null	Het
Slitrk6	A	G	14: 110,750,526 (GRCm38)	V583A	probably benign	Het
Sptbn5	G	T	2: 120,050,092 (GRCm38)		noncoding transcript	Het
Stab1	A	T	14: 31,158,993 (GRCm38)	I614N	probably damaging	Het
Tgm6	A	G	2: 130,141,228 (GRCm38)	T246A	probably damaging	Het
Tnks1bp1	T	C	2: 85,052,390 (GRCm38)	L187P	probably damaging	Het
Vmn1r157	A	G	7: 22,761,847 (GRCm38)	R51G	possibly damaging	Het
Vmn2r68	A	T	7: 85,222,245 (GRCm38)	I610K	probably damaging	Het

Other mutations in Plxnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Plxnb2	APN	15	89,162,366 (GRCm38)	splice site	probably benign
IGL01574:Plxnb2	APN	15	89,162,683 (GRCm38)	splice site	probably null
IGL01695:Plxnb2	APN	15	89,157,214 (GRCm38)	missense	possibly damaging	0.96
IGL01763:Plxnb2	APN	15	89,161,981 (GRCm38)	splice site	probably null
IGL01921:Plxnb2	APN	15	89,164,271 (GRCm38)	missense	possibly damaging	0.78
IGL02129:Plxnb2	APN	15	89,160,410 (GRCm38)	missense	probably benign	0.04
IGL02153:Plxnb2	APN	15	89,165,813 (GRCm38)	nonsense	probably null
IGL02637:Plxnb2	APN	15	89,164,057 (GRCm38)	missense	possibly damaging	0.53
IGL02892:Plxnb2	APN	15	89,161,222 (GRCm38)	critical splice donor site	probably null
IGL03108:Plxnb2	APN	15	89,158,031 (GRCm38)	missense	probably benign	0.32
IGL03115:Plxnb2	APN	15	89,162,438 (GRCm38)	splice site	probably benign
P0040:Plxnb2	UTSW	15	89,162,935 (GRCm38)	missense	probably damaging	1.00
R0022:Plxnb2	UTSW	15	89,163,276 (GRCm38)	critical splice donor site	probably null
R0095:Plxnb2	UTSW	15	89,165,331 (GRCm38)	missense	probably benign
R0103:Plxnb2	UTSW	15	89,161,769 (GRCm38)	missense	possibly damaging	0.85
R0544:Plxnb2	UTSW	15	89,158,613 (GRCm38)	splice site	probably benign
R0671:Plxnb2	UTSW	15	89,157,981 (GRCm38)	missense	probably benign	0.14
R1279:Plxnb2	UTSW	15	89,162,321 (GRCm38)	missense	probably benign	0.02
R1530:Plxnb2	UTSW	15	89,167,192 (GRCm38)	missense	probably benign
R1542:Plxnb2	UTSW	15	89,165,921 (GRCm38)	missense	probably damaging	1.00
R1610:Plxnb2	UTSW	15	89,158,493 (GRCm38)	missense	probably damaging	1.00
R1686:Plxnb2	UTSW	15	89,162,462 (GRCm38)	missense	probably damaging	1.00
R1702:Plxnb2	UTSW	15	89,161,984 (GRCm38)	critical splice donor site	probably null
R1996:Plxnb2	UTSW	15	89,158,768 (GRCm38)	missense	probably benign	0.13
R1997:Plxnb2	UTSW	15	89,158,768 (GRCm38)	missense	probably benign	0.13
R2031:Plxnb2	UTSW	15	89,162,810 (GRCm38)	nonsense	probably null
R2049:Plxnb2	UTSW	15	89,159,002 (GRCm38)	missense	probably damaging	1.00
R2072:Plxnb2	UTSW	15	89,158,451 (GRCm38)	missense	probably damaging	1.00
R2076:Plxnb2	UTSW	15	89,158,026 (GRCm38)	missense	probably damaging	1.00
R2140:Plxnb2	UTSW	15	89,156,562 (GRCm38)	missense	probably benign	0.04
R2418:Plxnb2	UTSW	15	89,161,069 (GRCm38)	missense	possibly damaging	0.72
R2419:Plxnb2	UTSW	15	89,161,069 (GRCm38)	missense	possibly damaging	0.72
R3752:Plxnb2	UTSW	15	89,157,255 (GRCm38)	splice site	probably benign
R3825:Plxnb2	UTSW	15	89,166,399 (GRCm38)	missense	probably benign	0.05
R4154:Plxnb2	UTSW	15	89,159,642 (GRCm38)	missense	probably damaging	0.98
R4197:Plxnb2	UTSW	15	89,157,018 (GRCm38)	missense	probably damaging	1.00
R4385:Plxnb2	UTSW	15	89,160,623 (GRCm38)	missense	probably damaging	0.96
R4434:Plxnb2	UTSW	15	89,162,803 (GRCm38)	missense	probably damaging	1.00
R4678:Plxnb2	UTSW	15	89,160,928 (GRCm38)	missense	probably benign	0.37
R4717:Plxnb2	UTSW	15	89,157,419 (GRCm38)	nonsense	probably null
R4773:Plxnb2	UTSW	15	89,166,947 (GRCm38)	missense	probably benign	0.06
R4905:Plxnb2	UTSW	15	89,157,411 (GRCm38)	missense	probably damaging	1.00
R5368:Plxnb2	UTSW	15	89,159,593 (GRCm38)	missense	possibly damaging	0.94
R5418:Plxnb2	UTSW	15	89,166,491 (GRCm38)	missense	probably benign	0.00
R5484:Plxnb2	UTSW	15	89,164,209 (GRCm38)	splice site	probably null
R5520:Plxnb2	UTSW	15	89,167,543 (GRCm38)	missense	possibly damaging	0.65
R5566:Plxnb2	UTSW	15	89,164,020 (GRCm38)	missense	probably benign	0.05
R5568:Plxnb2	UTSW	15	89,157,435 (GRCm38)	missense	probably damaging	1.00
R5619:Plxnb2	UTSW	15	89,162,809 (GRCm38)	missense	possibly damaging	0.92
R5685:Plxnb2	UTSW	15	89,167,032 (GRCm38)	missense	probably damaging	1.00
R5688:Plxnb2	UTSW	15	89,158,696 (GRCm38)	missense	probably damaging	1.00
R5809:Plxnb2	UTSW	15	89,167,571 (GRCm38)	missense	possibly damaging	0.61
R5813:Plxnb2	UTSW	15	89,160,759 (GRCm38)	missense	possibly damaging	0.81
R5866:Plxnb2	UTSW	15	89,167,572 (GRCm38)	missense	probably damaging	1.00
R6117:Plxnb2	UTSW	15	89,158,000 (GRCm38)	missense	probably benign	0.04
R6187:Plxnb2	UTSW	15	89,167,258 (GRCm38)	missense	probably damaging	1.00
R6260:Plxnb2	UTSW	15	89,165,291 (GRCm38)	missense	probably benign	0.22
R6263:Plxnb2	UTSW	15	89,161,986 (GRCm38)	missense	probably damaging	0.99
R6269:Plxnb2	UTSW	15	89,160,713 (GRCm38)	missense	probably benign	0.18
R6351:Plxnb2	UTSW	15	89,157,770 (GRCm38)	missense	possibly damaging	0.95
R6522:Plxnb2	UTSW	15	89,164,426 (GRCm38)	missense	probably benign	0.18
R6856:Plxnb2	UTSW	15	89,164,320 (GRCm38)	missense	probably benign	0.27
R6930:Plxnb2	UTSW	15	89,160,389 (GRCm38)	missense	probably benign
R7354:Plxnb2	UTSW	15	89,165,725 (GRCm38)	missense	possibly damaging	0.92
R7513:Plxnb2	UTSW	15	89,158,322 (GRCm38)	critical splice acceptor site	probably null
R7522:Plxnb2	UTSW	15	89,161,774 (GRCm38)	missense	probably benign	0.20
R7730:Plxnb2	UTSW	15	89,162,330 (GRCm38)	missense	probably benign
R7766:Plxnb2	UTSW	15	89,161,271 (GRCm38)	missense	probably benign	0.01
R7781:Plxnb2	UTSW	15	89,157,022 (GRCm38)	missense	possibly damaging	0.89
R8126:Plxnb2	UTSW	15	89,163,303 (GRCm38)	missense	probably benign
R8131:Plxnb2	UTSW	15	89,158,713 (GRCm38)	missense	probably damaging	1.00
R8372:Plxnb2	UTSW	15	89,158,493 (GRCm38)	missense	probably damaging	1.00
R8736:Plxnb2	UTSW	15	89,162,058 (GRCm38)	missense	probably damaging	1.00
R8772:Plxnb2	UTSW	15	89,162,746 (GRCm38)	missense	probably damaging	1.00
R9022:Plxnb2	UTSW	15	89,164,268 (GRCm38)	missense	possibly damaging	0.59
R9044:Plxnb2	UTSW	15	89,160,363 (GRCm38)	splice site	probably benign
R9253:Plxnb2	UTSW	15	89,167,812 (GRCm38)	missense	probably benign
R9398:Plxnb2	UTSW	15	89,160,919 (GRCm38)	missense	probably benign	0.02
R9562:Plxnb2	UTSW	15	89,165,933 (GRCm38)	missense	probably damaging	1.00
R9568:Plxnb2	UTSW	15	89,160,957 (GRCm38)	nonsense	probably null
R9613:Plxnb2	UTSW	15	89,164,293 (GRCm38)	missense	probably benign	0.01
X0027:Plxnb2	UTSW	15	89,160,713 (GRCm38)	missense	probably benign	0.18
Z1177:Plxnb2	UTSW	15	89,159,096 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCAGCGTGATCAGCGTGAG -3'
(R):5'- TTGTCATCGCTGAGCCCTTG -3'

Sequencing Primer
(F):5'- CACCCGTGAAGTTCTCAA -3'
(R):5'- ACGGTCAGTCCTGGCTTG -3'

Posted On

2017-06-26