Mutagenetix > Incidental Mutation

Incidental Mutation 'R7730:Plxnb2'

595791

Institutional Source

Beutler Lab

Gene Symbol

Plxnb2

Ensembl Gene

ENSMUSG00000036606

Gene Name

plexin B2

Synonyms

1110007H23Rik, Debt

MMRRC Submission

045786-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R7730 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89039752-89064960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89046533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 870 (M870T)

Ref Sequence

ENSEMBL: ENSMUSP00000051731 (fasta)

Gene Model

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

AlphaFold

B2RXS4

Predicted Effect

probably benign
Transcript: ENSMUST00000060808
AA Change: M870T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: M870T

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: M870T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: M870T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	A	11: 48,838,703 (GRCm39)	H628L	probably benign	Het
Adam6a	T	A	12: 113,507,660 (GRCm39)	V11E	possibly damaging	Het
Amotl1	T	G	9: 14,467,059 (GRCm39)	K660T	possibly damaging	Het
Ap4m1	T	C	5: 138,171,077 (GRCm39)	I59T	probably damaging	Het
Brd3	T	C	2: 27,346,967 (GRCm39)	Y389C	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Card11	C	A	5: 140,871,751 (GRCm39)	R650L	probably damaging	Het
Cercam	G	A	2: 29,762,574 (GRCm39)		probably null	Het
Cnst	T	C	1: 179,452,650 (GRCm39)	C673R	probably damaging	Het
Dld	G	T	12: 31,390,864 (GRCm39)	T194K	probably benign	Het
Dnah12	T	A	14: 26,507,890 (GRCm39)	W1714R	probably damaging	Het
Dsg1a	T	G	18: 20,464,768 (GRCm39)	V421G	possibly damaging	Het
Fer1l4	G	T	2: 155,890,854 (GRCm39)	P188Q	probably benign	Het
Gpr158	T	C	2: 21,831,158 (GRCm39)	S753P	probably damaging	Het
Hdc	A	T	2: 126,436,002 (GRCm39)	M623K	possibly damaging	Het
Herc1	CAACCCTGGTAAC	CAAC	9: 66,400,472 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,954,878 (GRCm39)	F203I	probably damaging	Het
Jag2	A	T	12: 112,885,661 (GRCm39)	I145N	probably damaging	Het
Kcnt2	T	A	1: 140,446,686 (GRCm39)	F694I	probably benign	Het
Lpl	A	T	8: 69,340,100 (GRCm39)	R32*	probably null	Het
Mcpt4	T	A	14: 56,297,428 (GRCm39)	I243L	probably benign	Het
Mtf1	C	A	4: 124,732,412 (GRCm39)	A490E	possibly damaging	Het
Mycbp2	A	T	14: 103,360,791 (GRCm39)	M4497K	probably damaging	Het
Myog	T	C	1: 134,218,914 (GRCm39)		probably null	Het
Nav2	T	C	7: 49,222,145 (GRCm39)	S1757P	probably damaging	Het
Or7g18	T	G	9: 18,786,709 (GRCm39)	F26V	probably benign	Het
Osmr	T	A	15: 6,853,963 (GRCm39)	I583F	probably damaging	Het
Phf19	T	A	2: 34,785,816 (GRCm39)	E551V	probably damaging	Het
Psat1	A	G	19: 15,895,720 (GRCm39)	F83L	probably damaging	Het
Reep1	T	A	6: 71,757,725 (GRCm39)	V108D	possibly damaging	Het
Rorc	A	G	3: 94,300,421 (GRCm39)	T455A	probably benign	Het
Serinc5	T	G	13: 92,821,698 (GRCm39)	I169S	probably damaging	Het
Serpinb6c	T	C	13: 34,083,292 (GRCm39)	M41V	probably damaging	Het
Sgsm3	A	T	15: 80,892,927 (GRCm39)	N335Y	probably damaging	Het
Slamf7	C	T	1: 171,468,589 (GRCm39)	R101H	possibly damaging	Het
Slc17a4	A	T	13: 24,084,503 (GRCm39)	L427*	probably null	Het
Slc35a5	T	C	16: 44,964,246 (GRCm39)	Q329R	probably damaging	Het
Slc45a1	C	T	4: 150,715,397 (GRCm39)	C656Y	probably damaging	Het
Srsf6	T	C	2: 162,773,643 (GRCm39)	I18T	probably damaging	Het
Syn3	T	G	10: 86,284,773 (GRCm39)	H109P	probably benign	Het
Synj2	T	C	17: 6,066,562 (GRCm39)	V580A	probably benign	Het
Tbc1d9b	T	C	11: 50,026,742 (GRCm39)	V70A	possibly damaging	Het
Tc2n	A	G	12: 101,617,406 (GRCm39)	Y402H	probably damaging	Het
Tmbim4	T	C	10: 120,059,767 (GRCm39)	C164R	possibly damaging	Het
Tnfrsf11b	T	A	15: 54,117,470 (GRCm39)	R262*	probably null	Het
Tnip1	T	C	11: 54,828,805 (GRCm39)	K121E	probably benign	Het
Tut1	T	C	19: 8,941,740 (GRCm39)		probably null	Het
Uhrf2	T	A	19: 30,052,501 (GRCm39)	C332S	probably damaging	Het
Vmn2r101	A	G	17: 19,831,950 (GRCm39)	I649V	possibly damaging	Het
Vwa8	A	G	14: 79,232,589 (GRCm39)	T644A	probably benign	Het
Zfhx2	T	C	14: 55,304,357 (GRCm39)	H1209R	possibly damaging	Het
Zfp384	A	G	6: 125,008,635 (GRCm39)	I306V	probably benign	Het
Zfp964	A	G	8: 70,116,360 (GRCm39)	E320G	possibly damaging	Het
Zmym2	A	T	14: 57,193,638 (GRCm39)	Y1151F	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
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
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'- GCATAGTTAGGGCCAAGGAC -3'
(R):5'- CAATCTGGGTGTCAAAGCAGATG -3'

Sequencing Primer
(F):5'- CAAGGACTCAGGGGTCACTG -3'
(R):5'- TCAAGAAGATAACTGTGGCTGGCC -3'

Posted On

2019-11-12