Mutagenetix > Incidental Mutation

Incidental Mutation 'R6386:Tpgs2'

515621

Institutional Source

Beutler Lab

Gene Symbol

Tpgs2

Ensembl Gene

ENSMUSG00000024269

Gene Name

tubulin polyglutamylase complex subunit 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6386 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25127223-25169007 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25139024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 258 (I258N)

Ref Sequence

ENSEMBL: ENSMUSP00000111484 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115817
AA Change: I258N

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269
AA Change: I258N

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 benign
Transcript: ENSMUST00000148255

SMART Domains

Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269

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

Meta Mutation Damage Score

0.1062

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.6%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak6	TGACGA	TGA	13: 100,655,803		probably benign	Het
Arap2	A	T	5: 62,604,522	N1620K	possibly damaging	Het
Atf6b	T	C	17: 34,651,851	S396P	probably damaging	Het
Cc2d1a	A	G	8: 84,138,537	M469T	probably damaging	Het
Ceacam3	A	G	7: 17,158,219	N296D	probably benign	Het
Cep57l1	A	T	10: 41,743,132	S80T	probably damaging	Het
Clip4	C	A	17: 71,834,194	Y514*	probably null	Het
Cop1	T	C	1: 159,289,031	I125T	probably damaging	Het
Cstf1	T	C	2: 172,377,896	V309A	probably damaging	Het
Cyp4a29	T	G	4: 115,247,075		probably null	Het
F830045P16Rik	G	A	2: 129,472,818	H180Y	probably damaging	Het
Foxp4	T	C	17: 47,878,462	K237E	unknown	Het
Fstl5	A	T	3: 76,322,066	H58L	probably benign	Het
Gje1	A	G	10: 14,716,621	F139S	probably damaging	Het
Gpatch1	T	C	7: 35,291,840	D593G	probably damaging	Het
Inpp5d	T	A	1: 87,699,675	L566Q	probably damaging	Het
Mtch2	A	G	2: 90,849,395	T38A	probably benign	Het
Mvb12b	A	T	2: 33,827,742	I129N	probably damaging	Het
Npffr2	T	C	5: 89,582,697	V162A	probably benign	Het
Olfr1424	A	T	19: 12,059,556	N65K	probably damaging	Het
Olfr485	A	T	7: 108,159,202	Y224N	probably damaging	Het
Pkhd1	G	A	1: 20,551,020	R805C	probably damaging	Het
Ppp4r4	T	C	12: 103,593,105	L406P	probably damaging	Het
Prl3d2	A	G	13: 27,127,303	D186G	probably damaging	Het
Rfc5	T	C	5: 117,385,398	T112A	probably benign	Het
Rnf148	A	G	6: 23,654,484	L171P	probably damaging	Het
Rps24	G	A	14: 24,492,048	G71S	possibly damaging	Het
Slco2a1	G	A	9: 103,076,988	V453I	probably benign	Het
Spidr	T	C	16: 15,968,560	K440E	probably benign	Het
Syndig1	C	A	2: 149,899,576	N27K	probably damaging	Het
Tmem62	C	T	2: 120,999,114	T316I	probably benign	Het
Vmn2r78	A	T	7: 86,922,337	R452*	probably null	Het
Wasf3	A	T	5: 146,453,417	I124F	possibly damaging	Het
Wbp11	T	C	6: 136,820,525	T299A	probably benign	Het
Wdr25	T	C	12: 109,025,065	S41P	probably damaging	Het
Zfp874b	T	C	13: 67,474,843	D116G	possibly damaging	Het

Other mutations in Tpgs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02160:Tpgs2	APN	18	25140580	missense	possibly damaging	0.93
IGL02184:Tpgs2	APN	18	25140573	missense	probably damaging	1.00
IGL02234:Tpgs2	APN	18	25149244	critical splice acceptor site	probably null
IGL02747:Tpgs2	APN	18	25139145	intron	probably benign
PIT4466001:Tpgs2	UTSW	18	25168595	missense	possibly damaging	0.77
PIT4472001:Tpgs2	UTSW	18	25168595	missense	possibly damaging	0.77
R0004:Tpgs2	UTSW	18	25158238	splice site	probably benign
R0139:Tpgs2	UTSW	18	25149185	missense	probably damaging	1.00
R0898:Tpgs2	UTSW	18	25149150	missense	probably damaging	1.00
R1415:Tpgs2	UTSW	18	25168553	missense	probably damaging	1.00
R1590:Tpgs2	UTSW	18	25140573	missense	probably damaging	1.00
R1974:Tpgs2	UTSW	18	25140536	missense	probably damaging	1.00
R2144:Tpgs2	UTSW	18	25168541	missense	possibly damaging	0.93
R4811:Tpgs2	UTSW	18	25129840	intron	probably benign
R4851:Tpgs2	UTSW	18	25151248	missense	possibly damaging	0.94
R6564:Tpgs2	UTSW	18	25158287	missense	probably damaging	0.99
R6788:Tpgs2	UTSW	18	25129870	missense	probably benign	0.04
R7112:Tpgs2	UTSW	18	25149137	missense	probably damaging	1.00
R7824:Tpgs2	UTSW	18	25129865	missense	probably benign
R8722:Tpgs2	UTSW	18	25141622	missense	probably benign	0.17
R8808:Tpgs2	UTSW	18	25151218	missense	probably damaging	1.00
R8818:Tpgs2	UTSW	18	25158308	missense	probably damaging	1.00
R9009:Tpgs2	UTSW	18	25168720	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCCTAGCTAATGACAGTGGAAAC -3'
(R):5'- TGTAATGTCTGTACTGTCGCC -3'

Sequencing Primer
(F):5'- TCTCTCAGGAGAATGCCGCTG -3'
(R):5'- AATGTCTGTACTGTCGCCTGCTC -3'

Posted On

2018-05-04