Mutagenetix > Incidental Mutation

Incidental Mutation 'R6788:Tpgs2'

532529

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 #

R6788 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25127223-25169007 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 25129870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 231 (N231H)

Ref Sequence

ENSEMBL: ENSMUSP00000122538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037097] [ENSMUST00000148255]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000037097

SMART Domains

Protein: ENSMUSP00000041361
Gene: ENSMUSG00000034295

Domain	Start	End	E-Value	Type
PDB:3DAD\|B	1	327	1e-127	PDB
Blast:Drf_GBD	73	204	3e-60	BLAST
Blast:FH2	219	306	4e-25	BLAST
low complexity region	399	420	N/A	INTRINSIC
low complexity region	428	446	N/A	INTRINSIC
low complexity region	553	583	N/A	INTRINSIC
coiled coil region	598	632	N/A	INTRINSIC
low complexity region	674	701	N/A	INTRINSIC
low complexity region	753	763	N/A	INTRINSIC
low complexity region	784	793	N/A	INTRINSIC
Blast:FH2	879	918	1e-9	BLAST
Blast:FH2	931	964	1e-7	BLAST
low complexity region	965	980	N/A	INTRINSIC
low complexity region	985	1023	N/A	INTRINSIC
FH2	1039	1492	3.96e-72	SMART
Blast:FH2	1506	1570	9e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000148255
AA Change: N231H

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269
AA Change: N231H

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.4%

Validation Efficiency

97% (68/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	C	T	9: 94,524,449	V302I	probably benign	Het
1700016D06Rik	T	C	8: 11,678,584	E29G	possibly damaging	Het
Ahctf1	A	T	1: 179,752,634	V2001E	probably benign	Het
Ahsg	A	G	16: 22,894,835	D122G	probably benign	Het
Ank3	A	G	10: 70,004,723	Y1616C	probably damaging	Het
Arhgef1	A	G	7: 24,919,780		probably null	Het
Atp7b	T	C	8: 22,004,375	I1023V	probably benign	Het
Bod1l	A	T	5: 41,821,873	Y699*	probably null	Het
Car12	C	T	9: 66,751,962	S183L	probably damaging	Het
Cep290	T	C	10: 100,488,628	S57P	probably damaging	Het
Cep57l1	T	C	10: 41,743,149	D74G	probably damaging	Het
Cers6	T	C	2: 69,108,559	Y374H	possibly damaging	Het
Chmp4c	T	A	3: 10,367,135	M35K	possibly damaging	Het
Crkl	G	A	16: 17,483,781	D300N	probably damaging	Het
Cyp3a41a	A	G	5: 145,705,829	M240T	probably benign	Het
Dnah12	G	T	14: 26,801,513	L1986F	probably damaging	Het
Dnah8	T	C	17: 30,648,465	I297T	probably benign	Het
Dock10	T	A	1: 80,531,245	I1610F	probably damaging	Het
Dpys	T	A	15: 39,857,163	H67L	probably damaging	Het
Epc2	T	G	2: 49,532,087	V331G	probably benign	Het
Fnbp1l	G	A	3: 122,546,307	R344*	probably null	Het
Gm8765	A	C	13: 50,703,095	H923P	probably damaging	Het
Gmip	G	T	8: 69,811,174	L89F	possibly damaging	Het
Gmip	G	C	8: 69,811,176	R90P	probably damaging	Het
Gpi1	A	G	7: 34,228,990	S74P	probably damaging	Het
Gys1	G	A	7: 45,444,678	E406K	probably damaging	Het
Hspg2	G	A	4: 137,515,307	G611E	probably damaging	Het
Klhl29	C	T	12: 5,084,393	V673M	probably damaging	Het
Lnpk	T	C	2: 74,529,676	T332A	probably benign	Het
Loxl4	T	C	19: 42,608,353	D60G	probably damaging	Het
Lrr1	T	C	12: 69,174,675	I197T	probably damaging	Het
Map1lc3b	A	G	8: 121,593,577	N43S	probably benign	Het
Map3k21	A	T	8: 125,939,866	D599V	probably benign	Het
Mastl	T	C	2: 23,133,698	N338D	probably benign	Het
Mepe	A	T	5: 104,338,208	R405*	probably null	Het
Mrps30	T	C	13: 118,380,372	E437G	probably benign	Het
Mup15	A	G	4: 61,438,228	V100A	possibly damaging	Het
Olfml1	A	T	7: 107,567,868	I35F	probably damaging	Het
Olfml2a	T	A	2: 38,960,226	Y651*	probably null	Het
Olfr93	T	A	17: 37,151,822	D50V	probably damaging	Het
Otog	T	C	7: 46,298,317	V113A	probably damaging	Het
Parvg	C	T	15: 84,326,263	L44F	possibly damaging	Het
Pcnx2	G	T	8: 125,772,100	D1553E	probably damaging	Het
Pcyt2	C	T	11: 120,614,374	G122S	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Polq	C	T	16: 37,077,148	T2134I	probably damaging	Het
Prkce	T	G	17: 86,630,061	F641V	probably damaging	Het
Prss1	T	C	6: 41,463,720	I243T	possibly damaging	Het
Pxmp2	A	G	5: 110,281,319	F91L	probably benign	Het
Ralgapb	G	A	2: 158,436,566	G5R	probably damaging	Het
Rasgef1a	T	G	6: 118,087,213	M337R	possibly damaging	Het
Rassf2	A	G	2: 132,002,925	M199T	probably damaging	Het
Rtbdn	A	T	8: 84,952,674	Y67F	probably null	Het
Scamp3	T	C	3: 89,181,949	V271A	probably benign	Het
Sema3a	A	T	5: 13,597,616	R613W	possibly damaging	Het
Slc4a3	A	T	1: 75,551,315	I206F	probably damaging	Het
Slc9b1	A	G	3: 135,357,757		probably null	Het
Smchd1	C	A	17: 71,475,101	V22F	probably benign	Het
Smg1	A	G	7: 118,184,571		probably benign	Het
Stab1	A	G	14: 31,139,160	L89P	probably damaging	Het
Stim1	A	G	7: 102,427,291	E152G	probably damaging	Het
Tenm3	A	G	8: 48,674,493	F50S	probably damaging	Het
Trank1	T	A	9: 111,390,679	N2161K	probably damaging	Het
Trim28	A	G	7: 13,025,346	D129G	probably benign	Het
Trim66	A	T	7: 109,477,754	I326N	probably damaging	Het
Trim80	A	T	11: 115,448,017	T558S	probably benign	Het
Uggt1	T	A	1: 36,230,688	T83S	probably benign	Het
Wdr91	A	G	6: 34,886,819	I587T	probably damaging	Het
Zpld1	A	T	16: 55,232,240	V337D	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
R6386:Tpgs2	UTSW	18	25139024	missense	possibly damaging	0.74
R6564:Tpgs2	UTSW	18	25158287	missense	probably damaging	0.99
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'- ACTCAGGCACAATATCAGTGG -3'
(R):5'- TTCCTCTGGAGAGCAAACTTGC -3'

Sequencing Primer
(F):5'- CCTGTAGGCTTGTAGAACTGTACATC -3'
(R):5'- TGCCCTCTTACATCAGCAGTAGAG -3'

Posted On

2018-08-29