Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03114:Plxdc2'

419316

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 #

IGL03114

Quality Score

Status

Chromosome

Chromosomal Location

16361115-16760650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16654935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 178 (V178A)

Ref Sequence

ENSEMBL: ENSMUSP00000110351 (fasta)

Gene Model

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

AlphaFold

Q9DC11

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028081
AA Change: V227A

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028081
Gene: ENSMUSG00000026748
AA Change: V227A

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

possibly damaging
Transcript: ENSMUST00000114702
AA Change: V227A

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110350
Gene: ENSMUSG00000026748
AA Change: V227A

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: V178A

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

SMART Domains

Protein: ENSMUSP00000110351
Gene: ENSMUSG00000026748
AA Change: V178A

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	T	3: 59,651,144 (GRCm39)	I89F	possibly damaging	Het
Abca13	T	A	11: 9,478,999 (GRCm39)	H4282Q	probably benign	Het
Acta2	A	G	19: 34,222,310 (GRCm39)		probably null	Het
Arl10	A	G	13: 54,723,579 (GRCm39)		probably benign	Het
Avpr1a	A	G	10: 122,285,623 (GRCm39)	Y305C	probably damaging	Het
Bmpr2	T	A	1: 59,906,603 (GRCm39)	N565K	probably damaging	Het
Boc	A	T	16: 44,307,115 (GRCm39)	S1035R	probably benign	Het
Brd10	A	T	19: 29,694,532 (GRCm39)	S1654T	probably benign	Het
Ccdc7a	T	C	8: 129,753,170 (GRCm39)	N187S	possibly damaging	Het
Cntn5	C	T	9: 9,748,457 (GRCm39)	E680K	probably damaging	Het
Copa	T	A	1: 171,946,835 (GRCm39)	Y1014*	probably null	Het
Csmd3	A	G	15: 47,683,847 (GRCm39)	S1662P	probably damaging	Het
Cyp2e1	T	C	7: 140,353,042 (GRCm39)	F360L	possibly damaging	Het
Efnb3	A	T	11: 69,447,628 (GRCm39)		probably benign	Het
Egf	A	T	3: 129,530,529 (GRCm39)	L211Q	probably damaging	Het
Eno1	G	A	4: 150,325,583 (GRCm39)	R56H	probably benign	Het
Fyb2	A	G	4: 104,852,975 (GRCm39)	T552A	probably damaging	Het
Git2	G	A	5: 114,871,918 (GRCm39)		probably benign	Het
Gtf2ird2	A	G	5: 134,245,752 (GRCm39)		probably null	Het
Hyal4	A	T	6: 24,755,964 (GRCm39)	I61L	probably benign	Het
Kat14	T	C	2: 144,217,885 (GRCm39)		probably null	Het
Kif13b	T	C	14: 65,025,897 (GRCm39)	V1418A	probably benign	Het
Lcn12	T	C	2: 25,383,274 (GRCm39)	K35E	probably benign	Het
Lyrm7	G	T	11: 54,741,198 (GRCm39)	N45K	possibly damaging	Het
Mical2	G	T	7: 111,996,764 (GRCm39)	G559V	probably damaging	Het
Mtrr	A	T	13: 68,712,441 (GRCm39)	C648*	probably null	Het
Muc5b	C	A	7: 141,412,556 (GRCm39)	S1834*	probably null	Het
Mup16	G	A	4: 61,436,250 (GRCm39)	T101M	probably benign	Het
Myof	A	T	19: 37,892,309 (GRCm39)	L1148Q	probably damaging	Het
Nags	A	T	11: 102,039,814 (GRCm39)	I501F	probably damaging	Het
Nbeal1	A	T	1: 60,317,886 (GRCm39)	Y672F	probably damaging	Het
Ncapg2	A	G	12: 116,415,993 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,891,365 (GRCm39)	S7056P	unknown	Het
Or52s1	T	C	7: 102,861,928 (GRCm39)	I287T	probably damaging	Het
Pde2a	C	A	7: 101,157,890 (GRCm39)		probably benign	Het
Piezo2	T	C	18: 63,163,343 (GRCm39)		probably null	Het
Pkhd1	C	A	1: 20,268,395 (GRCm39)	D3328Y	probably damaging	Het
Prdx3	T	C	19: 60,861,556 (GRCm39)		probably benign	Het
Prkce	T	A	17: 86,961,983 (GRCm39)	D694E	probably damaging	Het
Prss1l	T	A	6: 41,374,012 (GRCm39)	C205S	probably damaging	Het
Ptdss1	T	A	13: 67,142,058 (GRCm39)	Y405*	probably null	Het
Rad54l	A	T	4: 115,955,729 (GRCm39)	W608R	probably damaging	Het
Rassf6	G	T	5: 90,756,649 (GRCm39)		probably benign	Het
Sema5a	A	T	15: 32,673,573 (GRCm39)	I804F	probably damaging	Het
Slc15a2	A	T	16: 36,572,267 (GRCm39)	I668N	probably damaging	Het
Thsd7b	A	G	1: 130,116,288 (GRCm39)	E1347G	probably benign	Het
Tmco3	T	C	8: 13,348,205 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,551,996 (GRCm39)	M31214V	probably null	Het
Uck1	G	A	2: 32,148,334 (GRCm39)	R161C	probably benign	Het
Ugt2b5	T	C	5: 87,276,209 (GRCm39)	Y355C	probably damaging	Het
Usp48	C	A	4: 137,383,436 (GRCm39)	T1031K	probably damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het
Vmn1r202	T	A	13: 22,685,500 (GRCm39)		probably benign	Het
Vmn2r90	T	C	17: 17,953,771 (GRCm39)	I645T	probably damaging	Het
Vps18	T	C	2: 119,124,132 (GRCm39)	V353A	possibly damaging	Het
Vwf	C	T	6: 125,576,326 (GRCm39)	Q469*	probably null	Het

Other mutations in Plxdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Plxdc2	APN	2	16,654,950 (GRCm39)	missense	probably damaging	1.00
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
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

2016-08-02