Mutagenetix > Incidental Mutation

Incidental Mutation 'R7918:Plxnb3'

648209

Institutional Source

Beutler Lab

Gene Symbol

Plxnb3

Ensembl Gene

ENSMUSG00000031385

Gene Name

plexin B3

Synonyms

Plxn6

MMRRC Submission

045966-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7918 (G1)

Quality Score

223.457

Status

Not validated

Chromosome

Chromosomal Location

72800696-72816120 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72811251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1258 (A1258V)

Ref Sequence

ENSEMBL: ENSMUSP00000002079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002079]

AlphaFold

Q9QY40

Predicted Effect

probably benign
Transcript: ENSMUST00000002079
AA Change: A1258V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000002079
Gene: ENSMUSG00000031385
AA Change: A1258V

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Sema	44	445	5.53e-102	SMART
PSI	463	515	8.91e-10	SMART
Blast:Sema	533	592	2e-9	BLAST
PSI	609	671	8.95e-1	SMART
PSI	776	822	5e-1	SMART
IPT	823	914	7.15e-15	SMART
IPT	915	1001	5.63e-13	SMART
IPT	1003	1134	7.17e-1	SMART
Pfam:TIG	1148	1232	7.7e-7	PFAM
low complexity region	1246	1265	N/A	INTRINSIC
Pfam:Plexin_cytopl	1317	1869	2.7e-225	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the plexin family. It functions as a receptor for semaphorin 5A, and plays a role in axon guidance, invasive growth and cell migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal retinal stratification. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	G	A	5: 130,413,269 (GRCm39)	T30I	unknown	Het
Adam21	A	G	12: 81,607,378 (GRCm39)	V128A	possibly damaging	Het
Adam26a	T	C	8: 44,022,566 (GRCm39)	Y308C	probably damaging	Het
Adam26b	A	G	8: 43,974,138 (GRCm39)	V288A	probably benign	Het
Ankrd29	A	C	18: 12,428,979 (GRCm39)	L30R	probably damaging	Het
Bank1	A	G	3: 135,799,123 (GRCm39)	I406T	probably damaging	Het
Cacna1g	A	G	11: 94,334,856 (GRCm39)	I817T	probably benign	Het
Catsperd	T	C	17: 56,938,564 (GRCm39)	F31L	probably benign	Het
Cep164	A	G	9: 45,690,986 (GRCm39)		probably null	Het
Clca4b	T	C	3: 144,619,033 (GRCm39)	Y702C	probably damaging	Het
Clstn1	A	G	4: 149,728,508 (GRCm39)	I655V	probably damaging	Het
Dock1	A	G	7: 134,747,147 (GRCm39)	E1486G	probably damaging	Het
Epha8	A	G	4: 136,661,877 (GRCm39)	F573L	probably benign	Het
Exoc1	A	G	5: 76,691,840 (GRCm39)	N323S	probably benign	Het
Exoc6b	C	T	6: 85,046,332 (GRCm39)	R19Q	probably damaging	Het
Gcsam	T	C	16: 45,440,502 (GRCm39)	*182R	probably null	Het
Ighv9-2	T	C	12: 114,072,911 (GRCm39)	I21V	probably benign	Het
Ints2	G	A	11: 86,113,043 (GRCm39)	T825M	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lad1	A	G	1: 135,757,454 (GRCm39)	T398A	probably benign	Het
Lrfn2	T	C	17: 49,378,212 (GRCm39)	V431A	probably damaging	Het
Mast2	T	C	4: 116,292,732 (GRCm39)	I79M	possibly damaging	Het
Nup107	A	G	10: 117,617,905 (GRCm39)	V171A	probably benign	Het
Or1e1c	T	C	11: 73,265,923 (GRCm39)	F119S	probably damaging	Het
Or8b101	T	A	9: 38,020,103 (GRCm39)	Y35*	probably null	Het
Or8g37	C	A	9: 39,731,406 (GRCm39)	T157K	probably damaging	Het
Pde4dip	T	A	3: 97,622,539 (GRCm39)	K1557*	probably null	Het
Plat	C	T	8: 23,263,655 (GRCm39)	P185S	probably damaging	Het
Plcg1	T	G	2: 160,595,585 (GRCm39)	V511G	probably damaging	Het
Rnf223	T	C	4: 156,217,240 (GRCm39)	V205A	probably benign	Het
Slc13a1	G	C	6: 24,118,065 (GRCm39)	T224R	probably benign	Het
Slc39a10	T	A	1: 46,874,912 (GRCm39)	H130L	possibly damaging	Het
Sucnr1	T	A	3: 59,993,790 (GRCm39)	I106N	probably damaging	Het
Syde2	T	C	3: 145,708,170 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,309,078 (GRCm39)	I644V	possibly damaging	Het
Tbc1d8	A	C	1: 39,441,809 (GRCm39)	F261C	probably damaging	Het
Tmem132e	A	G	11: 82,336,116 (GRCm39)	Y1066C	probably damaging	Het
Trip12	A	C	1: 84,722,784 (GRCm39)	I1322S	probably damaging	Het
Tsnaxip1	A	G	8: 106,571,167 (GRCm39)	I676V	probably benign	Het
Vmn1r231	A	T	17: 21,110,236 (GRCm39)	Y226*	probably null	Het
Vmn2r63	G	C	7: 42,552,955 (GRCm39)	A767G	probably damaging	Het
Wdr5b	A	G	16: 35,862,192 (GRCm39)	T104A	probably damaging	Het
Zbed5	T	C	5: 129,930,504 (GRCm39)	V151A	possibly damaging	Het
Zc3h7b	T	C	15: 81,653,189 (GRCm39)	F31S	probably damaging	Het
Zfp874b	A	T	13: 67,622,279 (GRCm39)	C340S	possibly damaging	Het
Zmym4	T	A	4: 126,804,797 (GRCm39)		probably null	Het

Other mutations in Plxnb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02966:Plxnb3	APN	X	72,808,889 (GRCm39)	missense	probably benign	0.04
perplexed	UTSW	X	72,815,357 (GRCm39)	nonsense	probably null
R0614:Plxnb3	UTSW	X	72,807,964 (GRCm39)	splice site	probably benign
R2062:Plxnb3	UTSW	X	72,815,357 (GRCm39)	nonsense	probably null
R2063:Plxnb3	UTSW	X	72,815,357 (GRCm39)	nonsense	probably null
R2064:Plxnb3	UTSW	X	72,815,357 (GRCm39)	nonsense	probably null
R2065:Plxnb3	UTSW	X	72,815,357 (GRCm39)	nonsense	probably null
R2066:Plxnb3	UTSW	X	72,815,357 (GRCm39)	nonsense	probably null
R2068:Plxnb3	UTSW	X	72,815,357 (GRCm39)	nonsense	probably null
R3955:Plxnb3	UTSW	X	72,814,826 (GRCm39)	missense	probably benign	0.02
R3957:Plxnb3	UTSW	X	72,814,826 (GRCm39)	missense	probably benign	0.02
R8461:Plxnb3	UTSW	X	72,803,103 (GRCm39)	missense	probably damaging	1.00
X0025:Plxnb3	UTSW	X	72,802,938 (GRCm39)	missense	probably benign
Z1176:Plxnb3	UTSW	X	72,802,771 (GRCm39)	missense	probably damaging	1.00
Z1177:Plxnb3	UTSW	X	72,813,219 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAACCCACCAATGGTTCAGG -3'
(R):5'- TTCTGATAGTCTCGCAAGGC -3'

Sequencing Primer
(F):5'- ACCCTGCCGCAGTTTGTG -3'
(R):5'- AAGGCCTTCTTGCTCTTGTG -3'

Posted On

2020-09-15