Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01420:Plxdc2'

80396

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plxdc2

Ensembl Gene

ENSMUSG00000026748

Gene Name

plexin domain containing 2

Synonyms

1200007L24Rik, Tem7r, 5430431D22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01420

Quality Score

Status

Chromosome

Chromosomal Location

16361115-16760650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16654950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 232 (V232D)

Ref Sequence

ENSEMBL: ENSMUSP00000110350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028081] [ENSMUST00000114702] [ENSMUST00000114703]

AlphaFold

Q9DC11

Predicted Effect

probably damaging
Transcript: ENSMUST00000028081
AA Change: V232D

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

SMART Domains

Protein: ENSMUSP00000028081
Gene: ENSMUSG00000026748
AA Change: V232D

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
PSI	327	372	1.52e-3	SMART
low complexity region	390	401	N/A	INTRINSIC
transmembrane domain	455	477	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114702
AA Change: V232D

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

SMART Domains

Protein: ENSMUSP00000110350
Gene: ENSMUSG00000026748
AA Change: V232D

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
PSI	327	372	1.52e-3	SMART
low complexity region	388	399	N/A	INTRINSIC
transmembrane domain	453	475	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114703
AA Change: V183D

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

SMART Domains

Protein: ENSMUSP00000110351
Gene: ENSMUSG00000026748
AA Change: V183D

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
PSI	278	323	1.52e-3	SMART
low complexity region	339	350	N/A	INTRINSIC
transmembrane domain	404	426	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126173

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a hypomorphic reporter allele are viable and behaviorally normal with no apparent abnormalities in the developing and mature nervous system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,920,637 (GRCm39)		probably benign	Het
Actr6	A	T	10: 89,561,027 (GRCm39)		probably benign	Het
Adamts3	A	T	5: 89,850,916 (GRCm39)	M541K	possibly damaging	Het
Adgre4	T	C	17: 56,106,785 (GRCm39)		probably benign	Het
Anxa6	T	C	11: 54,883,189 (GRCm39)	Y481C	probably damaging	Het
Apbb1ip	A	T	2: 22,748,292 (GRCm39)	I371F	possibly damaging	Het
Arhgef10l	T	C	4: 140,297,649 (GRCm39)	D261G	probably damaging	Het
Bche	T	C	3: 73,609,342 (GRCm39)	H28R	probably benign	Het
C2cd3	T	C	7: 100,104,065 (GRCm39)	V2026A	probably benign	Het
Cacna1d	C	T	14: 29,773,595 (GRCm39)	V1697I	probably benign	Het
Celsr2	T	C	3: 108,301,079 (GRCm39)	H2738R	probably benign	Het
Celsr3	A	G	9: 108,718,389 (GRCm39)		probably null	Het
Cep152	A	T	2: 125,405,572 (GRCm39)	D1653E	possibly damaging	Het
Cfap57	T	A	4: 118,470,137 (GRCm39)	I248F	probably benign	Het
Clcnka	C	A	4: 141,116,643 (GRCm39)	R536L	probably benign	Het
Dao	T	A	5: 114,161,881 (GRCm39)		probably benign	Het
Dnajc10	T	C	2: 80,175,367 (GRCm39)	S585P	possibly damaging	Het
Dysf	C	T	6: 84,126,741 (GRCm39)	Q1333*	probably null	Het
Eps8l2	T	A	7: 140,937,576 (GRCm39)	S397T	probably benign	Het
Fap	A	G	2: 62,334,846 (GRCm39)		probably benign	Het
Fbf1	T	C	11: 116,036,822 (GRCm39)	T971A	probably benign	Het
Fbxl17	C	T	17: 63,692,047 (GRCm39)	V22M	probably damaging	Het
Fcgbpl1	T	A	7: 27,839,558 (GRCm39)	M457K	probably benign	Het
Fundc2	T	C	X: 74,434,471 (GRCm39)		probably benign	Het
Heyl	C	A	4: 123,133,967 (GRCm39)	Q42K	probably damaging	Het
Hyal4	A	G	6: 24,755,871 (GRCm39)	K30E	probably benign	Het
Igsf10	T	C	3: 59,227,071 (GRCm39)	I2201V	probably benign	Het
Il34	T	C	8: 111,469,345 (GRCm39)	K157E	probably damaging	Het
Kcnj13	T	C	1: 87,316,766 (GRCm39)	T116A	probably damaging	Het
Lpl	T	C	8: 69,340,085 (GRCm39)		probably benign	Het
Mcm6	A	G	1: 128,273,612 (GRCm39)	L406P	probably damaging	Het
Mst1	G	A	9: 107,960,027 (GRCm39)	R328H	probably damaging	Het
Nadk2	T	C	15: 9,103,072 (GRCm39)	S308P	probably damaging	Het
Nae1	G	T	8: 105,249,797 (GRCm39)	Q225K	probably benign	Het
Ncoa6	G	A	2: 155,249,507 (GRCm39)	P1266S	probably damaging	Het
Neb	A	G	2: 52,047,389 (GRCm39)	Y6485H	probably damaging	Het
Nin	G	A	12: 70,092,188 (GRCm39)	A707V	probably benign	Het
Nmur1	T	C	1: 86,315,113 (GRCm39)	T218A	probably benign	Het
Npr3	T	C	15: 11,858,718 (GRCm39)	N135D	probably damaging	Het
Nup107	A	T	10: 117,620,926 (GRCm39)	L142Q	probably damaging	Het
Pdgfc	T	A	3: 81,048,750 (GRCm39)	S53T	probably benign	Het
Pou2f2	T	C	7: 24,792,377 (GRCm39)	N493D	possibly damaging	Het
Rtel1	T	C	2: 180,996,194 (GRCm39)	I750T	probably benign	Het
Sbk1	A	G	7: 125,891,184 (GRCm39)		probably null	Het
Sec24d	A	G	3: 123,143,658 (GRCm39)	N603S	probably benign	Het
Slc38a10	T	A	11: 119,997,286 (GRCm39)	E736V	probably damaging	Het
Smc6	A	G	12: 11,341,659 (GRCm39)	Y559C	probably benign	Het
Sprr4	A	T	3: 92,407,691 (GRCm39)	V37E	unknown	Het
Sptbn2	A	G	19: 4,784,153 (GRCm39)	T632A	probably benign	Het
Trim31	A	G	17: 37,209,303 (GRCm39)	M20V	probably benign	Het
Trim65	C	A	11: 116,017,335 (GRCm39)	V376L	probably damaging	Het
Ttn	T	C	2: 76,542,420 (GRCm39)	D25195G	probably damaging	Het
Tysnd1	A	G	10: 61,537,830 (GRCm39)	T503A	possibly damaging	Het
Vtn	A	T	11: 78,390,200 (GRCm39)	I9L	probably benign	Het
Zfp398	A	G	6: 47,842,868 (GRCm39)	M175V	probably benign	Het

Other mutations in Plxdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Plxdc2	APN	2	16,516,926 (GRCm39)	missense	probably benign	0.00
IGL02306:Plxdc2	APN	2	16,665,585 (GRCm39)	missense	probably benign	0.06
IGL02555:Plxdc2	APN	2	16,734,152 (GRCm39)	missense	probably benign	0.02
IGL02558:Plxdc2	APN	2	16,674,409 (GRCm39)	splice site	probably benign
IGL03031:Plxdc2	APN	2	16,655,043 (GRCm39)	splice site	probably null
IGL03114:Plxdc2	APN	2	16,654,935 (GRCm39)	missense	probably damaging	1.00
R1024:Plxdc2	UTSW	2	16,716,917 (GRCm39)	missense	probably benign	0.00
R1449:Plxdc2	UTSW	2	16,665,592 (GRCm39)	missense	possibly damaging	0.82
R1840:Plxdc2	UTSW	2	16,674,667 (GRCm39)	missense	probably benign	0.11
R2091:Plxdc2	UTSW	2	16,718,494 (GRCm39)	missense	probably damaging	1.00
R2129:Plxdc2	UTSW	2	16,516,902 (GRCm39)	missense	probably benign
R2192:Plxdc2	UTSW	2	16,570,147 (GRCm39)	missense	probably damaging	0.99
R2287:Plxdc2	UTSW	2	16,517,001 (GRCm39)	missense	probably benign	0.00
R2567:Plxdc2	UTSW	2	16,716,995 (GRCm39)	missense	probably benign	0.00
R3964:Plxdc2	UTSW	2	16,665,651 (GRCm39)	missense	probably damaging	0.98
R4167:Plxdc2	UTSW	2	16,570,196 (GRCm39)	missense	probably damaging	0.99
R4496:Plxdc2	UTSW	2	16,517,040 (GRCm39)	missense	probably damaging	1.00
R4876:Plxdc2	UTSW	2	16,708,129 (GRCm39)	missense	probably damaging	1.00
R4891:Plxdc2	UTSW	2	16,716,957 (GRCm39)	missense	probably benign
R5238:Plxdc2	UTSW	2	16,655,026 (GRCm39)	missense	probably damaging	1.00
R5389:Plxdc2	UTSW	2	16,654,998 (GRCm39)	missense	probably damaging	1.00
R5984:Plxdc2	UTSW	2	16,665,666 (GRCm39)	missense	probably benign	0.28
R6675:Plxdc2	UTSW	2	16,716,932 (GRCm39)	missense	probably benign
R6751:Plxdc2	UTSW	2	16,552,952 (GRCm39)	missense	probably benign	0.14
R7676:Plxdc2	UTSW	2	16,716,894 (GRCm39)	missense	probably benign	0.01
R7757:Plxdc2	UTSW	2	16,734,187 (GRCm39)	missense	probably benign	0.37
R7813:Plxdc2	UTSW	2	16,665,678 (GRCm39)	missense	possibly damaging	0.56
R7919:Plxdc2	UTSW	2	16,553,036 (GRCm39)	missense	probably damaging	0.98
R9783:Plxdc2	UTSW	2	16,674,349 (GRCm39)	nonsense	probably null
Z1176:Plxdc2	UTSW	2	16,570,214 (GRCm39)	missense	possibly damaging	0.82

Posted On

2013-11-05