Mutagenetix > Incidental Mutation

Incidental Mutation 'R2049:Plxnb2'

226272

Institutional Source

Beutler Lab

Gene Symbol

Plxnb2

Ensembl Gene

ENSMUSG00000036606

Gene Name

plexin B2

Synonyms

Debt, 1110007H23Rik

MMRRC Submission

040056-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R2049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89155549-89180788 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89159002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1453 (N1453I)

Ref Sequence

ENSEMBL: ENSMUSP00000104955 (fasta)

Gene Model

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

AlphaFold

B2RXS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000060808
AA Change: N1453I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: N1453I

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 damaging
Transcript: ENSMUST00000109331
AA Change: N1453I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: N1453I

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: ENSMUST00000197760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230393

Meta Mutation Damage Score

0.9455

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (118/122)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,584,987	R8*	probably null	Het
Abhd17a	A	G	10: 80,585,606		probably null	Het
Acsm1	A	G	7: 119,656,039	R415G	probably damaging	Het
Acta1	G	T	8: 123,892,064	T360N	probably benign	Het
Adam6a	T	A	12: 113,544,429	S141T	probably benign	Het
Adgrd1	G	T	5: 129,115,095	K76N	probably benign	Het
Afdn	A	G	17: 13,810,433	E202G	probably damaging	Het
Agps	T	A	2: 75,858,926	M156K	probably benign	Het
Agxt	A	G	1: 93,137,315	I149V	probably benign	Het
Aqp2	A	G	15: 99,579,366	T72A	probably damaging	Het
Arhgap18	T	A	10: 26,849,942	D54E	probably benign	Het
Asb8	C	A	15: 98,136,069	E202*	probably null	Het
Bmp5	A	G	9: 75,893,790	I401V	probably damaging	Het
Bscl2	T	C	19: 8,845,320		probably null	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cep112	A	G	11: 108,606,325	E697G	probably damaging	Het
Cerk	G	A	15: 86,142,808	S167L	probably benign	Het
Chrm3	T	A	13: 9,878,335	I222F	probably damaging	Het
Clcn6	A	G	4: 148,024,137	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Commd10	A	T	18: 46,963,747	T74S	probably benign	Het
Cyp4f39	T	C	17: 32,482,138	F201L	probably benign	Het
Dennd4a	A	G	9: 64,889,605	T860A	possibly damaging	Het
Dlg5	A	T	14: 24,154,647	I1253N	probably damaging	Het
Dnah7b	T	A	1: 46,268,670	M3048K	probably damaging	Het
Dnah9	A	G	11: 66,044,683	M1970T	probably damaging	Het
Doxl2	T	A	6: 48,977,755	L609*	probably null	Het
Dsc3	A	T	18: 19,989,680	D62E	possibly damaging	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Dusp7	C	T	9: 106,373,897	T407M	probably damaging	Het
Efnb1	A	G	X: 99,147,517	Y343C	probably damaging	Het
Entpd5	A	G	12: 84,396,858	I12T	probably benign	Het
Espn	T	C	4: 152,121,257	E408G	probably damaging	Het
Fam160a2	A	T	7: 105,389,839	D64E	probably damaging	Het
Gdpd3	A	G	7: 126,768,594	T200A	probably damaging	Het
Gli1	A	G	10: 127,336,727	L182P	probably damaging	Het
Gm4907	T	A	X: 23,907,310	V350E	probably benign	Het
Gm5134	G	A	10: 76,004,884	A521T	possibly damaging	Het
Gm8300	A	G	12: 87,517,276	D127G	unknown	Het
Gm960	A	G	19: 4,698,605		probably benign	Het
Gprasp1	G	A	X: 135,802,042	E995K	possibly damaging	Het
H2-M10.1	T	C	17: 36,325,216	D153G	possibly damaging	Het
Helb	A	T	10: 120,106,021	M254K	possibly damaging	Het
I0C0044D17Rik	A	G	4: 98,820,296		probably benign	Het
Igfn1	AGGG	AGG	1: 135,974,852		probably benign	Het
Igfn1	T	A	1: 135,970,638	Q730L	probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Jmjd1c	T	A	10: 67,157,998	L86*	probably null	Het
Kat5	T	A	19: 5,605,685		probably null	Het
Kif14	A	G	1: 136,510,167	E1199G	possibly damaging	Het
Kif14	A	G	1: 136,487,080	N768S	probably benign	Het
Klhl29	A	G	12: 5,137,876	S163P	probably damaging	Het
Kmt2c	C	A	5: 25,285,079	Q4287H	probably damaging	Het
Krt82	T	A	15: 101,545,156	Q265L	probably damaging	Het
Macf1	C	T	4: 123,355,102	C7210Y	probably damaging	Het
Mx2	G	A	16: 97,538,703	E20K	probably benign	Het
Myom2	T	G	8: 15,106,379	I742S	probably damaging	Het
Narf	A	T	11: 121,250,369	R310*	probably null	Het
Nktr	T	A	9: 121,741,694	D167E	probably damaging	Het
Nle1	A	G	11: 82,905,366	W183R	probably damaging	Het
Npas3	A	G	12: 54,062,088	N425S	probably damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1197	A	T	2: 88,728,745	Y285N	probably damaging	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr283	G	A	15: 98,378,396	T238I	possibly damaging	Het
Olfr816	A	G	10: 129,912,167	V37A	probably benign	Het
Olfr965	A	T	9: 39,720,115	D296V	probably damaging	Het
Olfr984	T	A	9: 40,101,119	I124L	probably benign	Het
Optc	A	T	1: 133,903,796		probably null	Het
Otol1	T	A	3: 70,018,836	F115I	probably benign	Het
Parp8	T	A	13: 116,894,886	D430V	probably benign	Het
Pex7	T	A	10: 19,894,315	H123L	probably damaging	Het
Pkhd1l1	T	A	15: 44,547,513		probably benign	Het
Pkhd1l1	G	A	15: 44,581,741	D3670N	probably damaging	Het
Plec	T	C	15: 76,183,174	T1331A	probably benign	Het
Plekha4	A	G	7: 45,553,798	D704G	probably benign	Het
Pms1	T	A	1: 53,281,988	I29F	probably damaging	Het
Ppp1r1a	G	A	15: 103,531,406	T153I	probably damaging	Het
Pramef8	T	A	4: 143,416,871	L69Q	probably damaging	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Ptpre	A	G	7: 135,670,695		probably benign	Het
Ptprt	A	T	2: 161,534,545	I1312N	probably damaging	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Rims1	C	T	1: 22,596,435	C155Y	probably damaging	Het
Slitrk6	T	G	14: 110,750,794	T494P	probably benign	Het
Sltm	G	A	9: 70,581,301	G578S	probably benign	Het
Smyd5	A	G	6: 85,444,318	E338G	probably benign	Het
Snx2	G	A	18: 53,194,444	V81M	probably damaging	Het
Sp2	G	T	11: 96,961,365	N244K	probably benign	Het
Sspo	A	C	6: 48,463,531	D1568A	probably benign	Het
Sspo	C	A	6: 48,460,763		probably benign	Het
Ssrp1	T	C	2: 85,041,427		probably benign	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,746,741		probably benign	Het
Syt7	G	A	19: 10,439,213	R138Q	probably benign	Het
Taar7f	T	C	10: 24,050,425	Y306H	possibly damaging	Het
Tbccd1	T	C	16: 22,818,541		probably null	Het
Tex261	A	G	6: 83,772,259	Y119H	probably damaging	Het
Tmem131l	T	G	3: 83,942,788	E234D	probably damaging	Het
Tnnt2	TG	TGG	1: 135,846,761		probably benign	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257	A157V	probably damaging	Het
Ubr4	C	T	4: 139,477,207	T4810M	probably damaging	Het
Uso1	G	A	5: 92,181,936	G427R	probably damaging	Het
Usp15	A	T	10: 123,119,137	V912D	probably damaging	Het
Vmn1r20	T	C	6: 57,431,958	S90P	probably damaging	Het
Vmn1r32	T	C	6: 66,553,561	K77R	probably damaging	Het
Vmn2r100	A	G	17: 19,522,050	K229E	probably benign	Het
Vmn2r106	A	G	17: 20,268,304	V611A	possibly damaging	Het
Xrcc6	T	A	15: 82,022,977	F167I	probably damaging	Het
Zbtb21	G	T	16: 97,950,155	P804H	probably damaging	Het
Zdhhc3	T	C	9: 123,100,537	D11G	probably damaging	Het
Zfhx3	A	G	8: 108,945,177	T1324A	probably benign	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,625,353		probably benign	Het
Zfp608	G	T	18: 54,895,565	L1259I	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
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
R6016:Plxnb2	UTSW	15	89,161,022 (GRCm38)	missense	possibly damaging	0.55
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'- ACAATCACGCTCACGGTCTG -3'
(R):5'- CTTGCCTAAGTGCCTTGAAGGAG -3'

Sequencing Primer
(F):5'- AGGACCCTCGTGACCGTAC -3'
(R):5'- TGCCTTGAAGGAGGTCCAG -3'

Posted On

2014-09-17