Mutagenetix > Incidental Mutation

Incidental Mutation 'R9613:Plxnb2'

724405

Institutional Source

Beutler Lab

Gene Symbol

Plxnb2

Ensembl Gene

ENSMUSG00000036606

Gene Name

plexin B2

Synonyms

1110007H23Rik, Debt

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R9613 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89039752-89064960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89048496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 638 (T638A)

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: T638A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: T638A

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: T638A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: T638A

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: 99.6%
20x: 98.9%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,771,126 (GRCm39)	R105H	probably damaging	Het
Baz2b	A	T	2: 59,731,824 (GRCm39)	N2071K	probably benign	Het
Chd9	C	A	8: 91,683,150 (GRCm39)	S530*	probably null	Het
Col6a6	G	A	9: 105,616,401 (GRCm39)	H1558Y	probably benign	Het
Cyp7a1	A	G	4: 6,272,587 (GRCm39)	F209L	probably damaging	Het
D430041D05Rik	A	G	2: 104,060,737 (GRCm39)	Y702H	probably benign	Het
Ddx46	T	A	13: 55,787,749 (GRCm39)		probably null	Het
Dgat2	C	G	7: 98,831,692 (GRCm39)	G10R	probably benign	Het
Dync2h1	T	A	9: 7,075,769 (GRCm39)	M3033L	probably damaging	Het
Eef1g	A	G	19: 8,955,018 (GRCm39)	N367S	probably benign	Het
Eef2kmt	T	G	16: 5,067,272 (GRCm39)	E94A	possibly damaging	Het
Ermp1	C	A	19: 29,617,256 (GRCm39)		probably null	Het
Ewsr1	A	C	11: 5,028,924 (GRCm39)	D346E	unknown	Het
Fam227a	G	A	15: 79,518,284 (GRCm39)	T340M	probably benign	Het
Fxr1	G	A	3: 34,100,352 (GRCm39)	V104I	probably benign	Het
Gm6176	A	G	7: 21,750,529 (GRCm39)	V134A	possibly damaging	Het
Igdcc4	G	A	9: 65,027,522 (GRCm39)	V195I	possibly damaging	Het
Ighv2-5	A	G	12: 113,649,189 (GRCm39)	I88T		Het
Irf8	A	T	8: 121,481,207 (GRCm39)	T355S	probably benign	Het
Kif20b	T	A	19: 34,919,934 (GRCm39)	S751T	possibly damaging	Het
Kitl	A	G	10: 99,916,781 (GRCm39)	N195D	probably damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,420,288 (GRCm39)	F322S	probably benign	Het
Map6	T	C	7: 98,918,384 (GRCm39)	S386P	possibly damaging	Het
Nup214	A	G	2: 31,901,035 (GRCm39)	D906G	possibly damaging	Het
Oacyl	A	C	18: 65,864,524 (GRCm39)	T356P	probably damaging	Het
Or1e28-ps1	A	T	11: 73,615,639 (GRCm39)	D70E	probably damaging	Het
Or2at1	A	G	7: 99,416,536 (GRCm39)	T56A	probably benign	Het
Plekha1	C	A	7: 130,479,488 (GRCm39)	P2H	probably damaging	Het
Plekhg4	T	A	8: 106,107,620 (GRCm39)	D1050E	probably damaging	Het
Pole4	T	C	6: 82,629,099 (GRCm39)	Q89R	probably benign	Het
Prg4	T	C	1: 150,331,660 (GRCm39)	T338A	unknown	Het
Prpf3	G	A	3: 95,758,931 (GRCm39)	R74*	probably null	Het
Prss44	C	A	9: 110,643,806 (GRCm39)	A150E	probably damaging	Het
Prss51	T	A	14: 64,332,461 (GRCm39)	V2E	possibly damaging	Het
Ptpn12	A	G	5: 21,203,621 (GRCm39)	Y386H	probably damaging	Het
Septin4	A	T	11: 87,469,823 (GRCm39)	H3L	possibly damaging	Het
Spata16	G	A	3: 26,932,814 (GRCm39)	V347M	probably damaging	Het
Spata31f1e	A	G	4: 42,792,992 (GRCm39)	V380A	probably benign	Het
Spinkl	T	A	18: 44,301,212 (GRCm39)	Y42F	probably damaging	Het
Suds3	A	T	5: 117,243,234 (GRCm39)	M168K	possibly damaging	Het
Tdrd6	A	G	17: 43,939,518 (GRCm39)	I510T	probably damaging	Het
Tnfrsf22	T	C	7: 143,198,583 (GRCm39)	H44R	probably benign	Het
Trh	G	A	6: 92,219,840 (GRCm39)	R159*	probably null	Het
Ubr4	C	A	4: 139,149,073 (GRCm39)	S457R		Het
Usp54	T	C	14: 20,600,438 (GRCm39)	Y1433C	probably damaging	Het
Vmn1r120	G	A	7: 20,787,046 (GRCm39)	L222F	probably benign	Het
Vmn2r22	T	C	6: 123,615,075 (GRCm39)	I172V	probably damaging	Het
Vmn2r84	A	G	10: 130,226,591 (GRCm39)	S416P	probably damaging	Het
Wapl	T	C	14: 34,453,520 (GRCm39)	V855A	probably benign	Het
Zmynd19	A	G	2: 24,848,217 (GRCm39)	I177V		Het
Zscan4e	G	A	7: 11,040,898 (GRCm39)	Q325*	probably null	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
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
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'- TGGTTCATGGGGATGACCAAAG -3'
(R):5'- CCTTCTATGACTGCCGTGAG -3'

Sequencing Primer
(F):5'- CAGTTGTCCTCCTGAGAGAGAG -3'
(R):5'- GCTACCTTGTGAGAGGTT -3'

Posted On

2022-09-12