Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02184:Tpgs2'

284258

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpgs2

Ensembl Gene

ENSMUSG00000024269

Gene Name

tubulin polyglutamylase complex subunit 2

Synonyms

5730494M16Rik, 5730437P09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02184

Quality Score

Status

Chromosome

Chromosomal Location

25260280-25301990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25273630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 177 (D177V)

Ref Sequence

ENSEMBL: ENSMUSP00000122538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115817] [ENSMUST00000148255]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000115817
AA Change: D177V

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

SMART Domains

Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269
AA Change: D177V

Domain	Start	End	E-Value	Type
SMI1_KNR4	43	187	1.04e-3	SMART
low complexity region	253	264	N/A	INTRINSIC
low complexity region	271	293	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000148255
AA Change: D177V

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

SMART Domains

Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269
AA Change: D177V

Domain	Start	End	E-Value	Type
SMI1_KNR4	43	187	1.04e-3	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	C	T	3: 89,253,241 (GRCm39)		probably benign	Het
Antxr2	A	C	5: 98,125,454 (GRCm39)		probably null	Het
Aopep	T	G	13: 63,215,925 (GRCm39)	I399S	possibly damaging	Het
Atp8b3	A	C	10: 80,363,067 (GRCm39)		probably benign	Het
Brwd1	A	T	16: 95,815,029 (GRCm39)	M1417K	probably damaging	Het
Camk2d	A	T	3: 126,591,422 (GRCm39)	R297S	probably damaging	Het
Cntnap1	A	T	11: 101,069,191 (GRCm39)	H215L	probably damaging	Het
Cytip	T	C	2: 58,023,750 (GRCm39)	S357G	probably damaging	Het
Eif1ad15	T	C	12: 88,287,951 (GRCm39)	R101G	probably benign	Het
Fancg	A	G	4: 43,006,872 (GRCm39)	Y273H	possibly damaging	Het
Fbxo36	A	G	1: 84,858,885 (GRCm39)	S57G	probably benign	Het
Fgf8	A	T	19: 45,725,655 (GRCm39)	L141Q	probably damaging	Het
Grm5	C	T	7: 87,675,650 (GRCm39)	T388M	probably damaging	Het
Hipk1	A	G	3: 103,666,066 (GRCm39)	L589P	possibly damaging	Het
Kiz	T	C	2: 146,731,520 (GRCm39)	S337P	probably benign	Het
Lrrc37a	A	T	11: 103,388,435 (GRCm39)	I2330K	unknown	Het
Mdfic	T	A	6: 15,770,366 (GRCm39)	I124K	possibly damaging	Het
Mdfic2	T	C	6: 98,225,059 (GRCm39)	S75G	possibly damaging	Het
Mttp	A	G	3: 137,821,761 (GRCm39)		probably null	Het
Myom1	G	A	17: 71,379,132 (GRCm39)	S632N	possibly damaging	Het
Nlrp12	T	C	7: 3,289,094 (GRCm39)	K473E	probably damaging	Het
Nrp2	C	A	1: 62,758,099 (GRCm39)	C28*	probably null	Het
Nwd2	G	T	5: 63,963,020 (GRCm39)	G868V	probably damaging	Het
Or4a73	G	A	2: 89,420,637 (GRCm39)	T274I	probably damaging	Het
Or4c58	G	A	2: 89,674,729 (GRCm39)	A196V	probably damaging	Het
Or5w1	A	G	2: 87,487,136 (GRCm39)	L43P	probably damaging	Het
Pappa	A	T	4: 65,258,928 (GRCm39)	M1559L	possibly damaging	Het
Pmm2	T	A	16: 8,455,668 (GRCm39)	D10E	possibly damaging	Het
Polm	T	C	11: 5,780,137 (GRCm39)	Q300R	probably benign	Het
Prrc2b	T	A	2: 32,111,467 (GRCm39)	N1208K	probably benign	Het
Serpinb3c	T	C	1: 107,199,648 (GRCm39)	D291G	probably damaging	Het
Skic3	A	G	13: 76,259,810 (GRCm39)	K37E	probably damaging	Het
Slc1a2	T	C	2: 102,578,889 (GRCm39)	F268S	probably damaging	Het
Slc26a4	A	G	12: 31,599,948 (GRCm39)	Y127H	probably damaging	Het
Slc29a4	A	G	5: 142,703,506 (GRCm39)	Y260C	probably damaging	Het
Sorbs3	C	T	14: 70,421,455 (GRCm39)		probably null	Het
Spen	T	C	4: 141,214,917 (GRCm39)	Y534C	unknown	Het
Tmem237	T	C	1: 59,159,270 (GRCm39)		probably null	Het
Tnfrsf21	A	T	17: 43,396,354 (GRCm39)	N546I	probably benign	Het
Tpx2	C	T	2: 152,724,240 (GRCm39)	R339*	probably null	Het
Trim12c	T	C	7: 103,997,430 (GRCm39)	Y42C	probably benign	Het
Trip10	A	T	17: 57,564,272 (GRCm39)	E341V	probably damaging	Het
Trpm8	A	T	1: 88,258,416 (GRCm39)		probably null	Het
Ubr1	T	A	2: 120,730,989 (GRCm39)	I1221F	probably benign	Het
Ucp2	C	T	7: 100,148,529 (GRCm39)	A301V	probably benign	Het
Zfyve1	T	C	12: 83,605,467 (GRCm39)	I411V	probably benign	Het

Other mutations in Tpgs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02160:Tpgs2	APN	18	25,273,637 (GRCm39)	missense	possibly damaging	0.93
IGL02234:Tpgs2	APN	18	25,282,301 (GRCm39)	critical splice acceptor site	probably null
IGL02747:Tpgs2	APN	18	25,272,202 (GRCm39)	intron	probably benign
PIT4466001:Tpgs2	UTSW	18	25,301,652 (GRCm39)	missense	possibly damaging	0.77
PIT4472001:Tpgs2	UTSW	18	25,301,652 (GRCm39)	missense	possibly damaging	0.77
R0004:Tpgs2	UTSW	18	25,291,295 (GRCm39)	splice site	probably benign
R0139:Tpgs2	UTSW	18	25,282,242 (GRCm39)	missense	probably damaging	1.00
R0898:Tpgs2	UTSW	18	25,282,207 (GRCm39)	missense	probably damaging	1.00
R1415:Tpgs2	UTSW	18	25,301,610 (GRCm39)	missense	probably damaging	1.00
R1590:Tpgs2	UTSW	18	25,273,630 (GRCm39)	missense	probably damaging	1.00
R1974:Tpgs2	UTSW	18	25,273,593 (GRCm39)	missense	probably damaging	1.00
R2144:Tpgs2	UTSW	18	25,301,598 (GRCm39)	missense	possibly damaging	0.93
R4811:Tpgs2	UTSW	18	25,262,897 (GRCm39)	intron	probably benign
R4851:Tpgs2	UTSW	18	25,284,305 (GRCm39)	missense	possibly damaging	0.94
R6386:Tpgs2	UTSW	18	25,272,081 (GRCm39)	missense	possibly damaging	0.74
R6564:Tpgs2	UTSW	18	25,291,344 (GRCm39)	missense	probably damaging	0.99
R6788:Tpgs2	UTSW	18	25,262,927 (GRCm39)	missense	probably benign	0.04
R7112:Tpgs2	UTSW	18	25,282,194 (GRCm39)	missense	probably damaging	1.00
R7824:Tpgs2	UTSW	18	25,262,922 (GRCm39)	missense	probably benign
R8722:Tpgs2	UTSW	18	25,274,679 (GRCm39)	missense	probably benign	0.17
R8808:Tpgs2	UTSW	18	25,284,275 (GRCm39)	missense	probably damaging	1.00
R8818:Tpgs2	UTSW	18	25,291,365 (GRCm39)	missense	probably damaging	1.00
R9009:Tpgs2	UTSW	18	25,301,777 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16