Mutagenetix > Incidental Mutation

Incidental Mutation 'R5866:Plxnb2'

454194

Institutional Source

Beutler Lab

Gene Symbol

Plxnb2

Ensembl Gene

ENSMUSG00000036606

Gene Name

plexin B2

Synonyms

1110007H23Rik, Debt

MMRRC Submission

044075-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R5866 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

89039752-89064960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89051775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 148 (D148G)

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: D148G

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

SMART Domains

Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: D148G

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: D148G

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

SMART Domains

Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: D148G

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: ENSMUST00000197760

Meta Mutation Damage Score

0.2031

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.7%

Validation Efficiency

91% (51/56)

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
3110009E18Rik	A	G	1: 120,096,814 (GRCm39)		probably benign	Het
A530084C06Rik	G	A	13: 31,743,178 (GRCm39)	A25V	unknown	Het
A730018C14Rik	T	C	12: 112,381,472 (GRCm39)		noncoding transcript	Het
Aasdh	G	T	5: 77,024,058 (GRCm39)	A198E	probably damaging	Het
Abcb8	C	T	5: 24,607,101 (GRCm39)	A328V	probably damaging	Het
Ace3	C	A	11: 105,888,330 (GRCm39)	H347N	probably damaging	Het
Amy1	A	T	3: 113,355,569 (GRCm39)	M302K	possibly damaging	Het
Apol11b	C	T	15: 77,524,747 (GRCm39)	V13M	probably null	Het
Arfgef2	T	A	2: 166,678,177 (GRCm39)	V131E	possibly damaging	Het
Arnt	T	A	3: 95,398,037 (GRCm39)		probably benign	Het
Atl1	T	C	12: 69,972,785 (GRCm39)	V35A	probably damaging	Het
BC061237	A	T	14: 44,738,730 (GRCm39)	D43V	possibly damaging	Het
Cracd	A	G	5: 77,005,384 (GRCm39)	T582A	unknown	Het
Cyp4f17	T	C	17: 32,725,887 (GRCm39)	S7P	probably benign	Het
Ddx60	A	G	8: 62,393,774 (GRCm39)	Y70C	probably damaging	Het
Defb34	T	C	8: 19,176,468 (GRCm39)	L53P	probably damaging	Het
Dennd5a	T	C	7: 109,518,567 (GRCm39)	T525A	probably benign	Het
Ephb3	T	C	16: 21,030,129 (GRCm39)		probably benign	Het
Fam83d	T	A	2: 158,621,750 (GRCm39)		probably null	Het
Gramd2b	A	G	18: 56,607,108 (GRCm39)	D74G	possibly damaging	Het
Hax1	A	G	3: 89,903,035 (GRCm39)		probably benign	Het
Kcnh8	T	C	17: 53,263,804 (GRCm39)	I767T	probably benign	Het
Ldah	G	A	12: 8,270,614 (GRCm39)	V5I	possibly damaging	Het
Nbeal2	A	G	9: 110,460,560 (GRCm39)	V1758A	probably damaging	Het
Nos1	A	G	5: 118,033,967 (GRCm39)	D363G	probably damaging	Het
Or14j6	C	T	17: 38,214,700 (GRCm39)	R88*	probably null	Het
Pdlim7	T	A	13: 55,646,501 (GRCm39)	D445V	probably damaging	Het
Phip	T	A	9: 82,772,203 (GRCm39)	M1115L	probably benign	Het
Pigb	C	T	9: 72,936,966 (GRCm39)	A215T	probably damaging	Het
Pkd1	A	T	17: 24,799,935 (GRCm39)	S2952C	probably damaging	Het
Ppp1r36	T	C	12: 76,473,579 (GRCm39)	F70S	possibly damaging	Het
Rad52	G	A	6: 119,889,907 (GRCm39)		probably benign	Het
Rasa2	T	A	9: 96,427,823 (GRCm39)	T681S	probably benign	Het
Rel	A	T	11: 23,692,724 (GRCm39)	Y436*	probably null	Het
Sec16a	G	A	2: 26,309,650 (GRCm39)	P2119S	probably benign	Het
Sema6d	C	A	2: 124,506,262 (GRCm39)	T733K	probably benign	Het
Sf3b3	C	T	8: 111,541,266 (GRCm39)	A950T	probably benign	Het
Slc24a5	T	A	2: 124,927,591 (GRCm39)	F297I	probably damaging	Het
Spp2	A	T	1: 88,340,025 (GRCm39)	D122V	possibly damaging	Het
Stap1	A	G	5: 86,225,906 (GRCm39)	K60R	probably benign	Het
Stat1	A	G	1: 52,178,423 (GRCm39)	K286E	probably damaging	Het
Stn1	T	C	19: 47,505,568 (GRCm39)	T129A	probably benign	Het
Tagap	C	T	17: 8,152,285 (GRCm39)	T490I	probably damaging	Het
Tbc1d2	T	C	4: 46,637,715 (GRCm39)	E177G	possibly damaging	Het
Tln2	A	T	9: 67,174,150 (GRCm39)	L841Q	probably damaging	Het
Tmem59	T	A	4: 107,047,754 (GRCm39)	M71K	probably damaging	Het
Ugt2a3	G	A	5: 87,484,406 (GRCm39)	T206I	probably damaging	Het
Utp20	G	A	10: 88,608,421 (GRCm39)	H1539Y	possibly damaging	Het
Vps13a	T	C	19: 16,657,387 (GRCm39)	N1794S	probably benign	Het
Vsig10	A	T	5: 117,490,814 (GRCm39)		probably null	Het
Zfp97	T	A	17: 17,365,087 (GRCm39)	F195L	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAAGGCTGCGACAAACTGC -3'
(R):5'- AAGCGGTGCTCACTGACAAC -3'

Sequencing Primer
(F):5'- CTGCGACAAACTGCTGAGTATTCG -3'
(R):5'- GGTGCTCACTGACAACTTCAAC -3'

Posted On

2017-02-10