Mutagenetix > Incidental Mutation

Incidental Mutation 'R9009:Tpgs2'

685533

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 #

R9009 (G1)

Quality Score

181.009

Status

Not validated

Chromosome

Chromosomal Location

25127223-25169007 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 25168720 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036619] [ENSMUST00000097643] [ENSMUST00000115817] [ENSMUST00000148255] [ENSMUST00000159605] [ENSMUST00000160530] [ENSMUST00000165400]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036619

SMART Domains

Protein: ENSMUSP00000046227
Gene: ENSMUSG00000033632

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	92	414	1.4e-154	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097643

SMART Domains

Protein: ENSMUSP00000095248
Gene: ENSMUSG00000033632

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	92	414	2.5e-154	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115817

SMART Domains

Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159605

Predicted Effect

probably benign
Transcript: ENSMUST00000160530

Predicted Effect

probably benign
Transcript: ENSMUST00000165400

SMART Domains

Protein: ENSMUSP00000128437
Gene: ENSMUSG00000033632

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	92	414	1.6e-160	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (58/62)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	T	A	8: 120,151,540		probably benign	Het
Ahctf1	C	T	1: 179,753,606	S1677N	probably benign	Het
Ank2	T	C	3: 126,934,376		probably benign	Het
Arid3c	A	T	4: 41,729,925	I90N	probably benign	Het
Asb1	C	A	1: 91,552,483	D301E	unknown	Het
Asb1	T	G	1: 91,552,484	*302G	probably null	Het
Birc2	A	T	9: 7,833,936	F181L	probably benign	Het
Bnip1	T	A	17: 26,782,616		probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cd2ap	T	C	17: 42,805,244	D575G	possibly damaging	Het
Cdca7	T	A	2: 72,483,929	H248Q	probably damaging	Het
Chd2	T	C	7: 73,490,654	I609V	probably benign	Het
Chd2	T	C	7: 73,493,444	D567G	probably benign	Het
Cnmd	T	A	14: 79,656,645	T101S	probably damaging	Het
Col6a4	T	C	9: 106,077,205	T312A	probably benign	Het
Cript	C	A	17: 87,031,047	T41N	probably damaging	Het
Cts6	T	C	13: 61,196,447	I264V	probably benign	Het
Cyp4a32	C	T	4: 115,610,605	T262I	probably null	Het
D430041D05Rik	T	A	2: 104,410,176		probably benign	Het
Dctd	C	T	8: 48,111,677	P5S	probably benign	Het
Det1	T	C	7: 78,843,236	N340S	probably benign	Het
Dnah7b	A	G	1: 46,223,072	N2032D	probably benign	Het
Dscam	T	A	16: 97,038,916	T164S	probably benign	Het
Emcn	T	C	3: 137,419,014	V196A	possibly damaging	Het
Fbxo32	A	G	15: 58,182,962	I284T	possibly damaging	Het
Gimap3	C	A	6: 48,765,160	D279Y	possibly damaging	Het
Gm43302	C	T	5: 105,280,108	D196N	probably benign	Het
Gpc6	C	A	14: 117,186,805	H102N	possibly damaging	Het
Gpr158	A	T	2: 21,576,949	D413V	probably damaging	Het
Hrasls5	G	T	19: 7,637,458	M228I	probably benign	Het
Ifi207	T	C	1: 173,727,816	R767G	probably damaging	Het
Kcnip2	T	C	19: 45,812,195		probably benign	Het
Kifap3	A	C	1: 163,868,722	D640A	probably damaging	Het
Lmbrd2	A	T	15: 9,157,224	Q183L	possibly damaging	Het
Malt1	A	G	18: 65,444,840	I135V	probably benign	Het
Mfhas1	T	C	8: 35,589,955	V528A	probably damaging	Het
Mllt10	T	C	2: 18,162,352	S363P	probably damaging	Het
Mrnip	A	G	11: 50,182,496	Y44C	probably damaging	Het
Mstn	C	T	1: 53,063,972	Q156*	probably null	Het
Mtmr7	T	C	8: 40,555,863	D469G	possibly damaging	Het
Muc6	A	G	7: 141,637,105	S2552P	possibly damaging	Het
Myo1f	C	A	17: 33,604,688	N1063K	probably benign	Het
Olfr1346	G	A	7: 6,474,400	V97M	probably benign	Het
Olfr312	A	T	11: 58,831,454	Y100F	probably benign	Het
Olfr552	T	A	7: 102,604,435	I27N	probably benign	Het
Orai2	A	G	5: 136,150,576	V201A	possibly damaging	Het
Pcdhga6	A	T	18: 37,708,825	T533S	possibly damaging	Het
Pkd1l1	T	A	11: 8,931,552	K907N		Het
Ppp1r15a	A	T	7: 45,524,625	V253E	probably benign	Het
Ppp1r9b	A	G	11: 94,996,641	E493G	probably benign	Het
Prdm1	T	C	10: 44,447,001	N151S	probably benign	Het
Prkcd	C	T	14: 30,607,340	A163T	probably damaging	Het
Prl7a2	T	A	13: 27,666,011	E26V	probably damaging	Het
Ptprm	A	T	17: 66,689,359	N1278K	probably damaging	Het
Ptprz1	T	A	6: 23,001,654	S1248T	possibly damaging	Het
Scn9a	T	C	2: 66,508,583	I1186M	probably damaging	Het
Sv2a	T	C	3: 96,187,093	F248S	probably benign	Het
Tas2r116	T	A	6: 132,856,000	I188K	probably damaging	Het
Tcf21	T	C	10: 22,817,772	T169A	probably benign	Het
Tecrl	C	A	5: 83,284,274	C258F	probably damaging	Het
Tet2	T	A	3: 133,487,599	E358V	possibly damaging	Het
Thada	A	T	17: 84,451,775	S219T	possibly damaging	Het
Ttc6	A	T	12: 57,697,433	I1284F	probably damaging	Het
Vmn1r160	T	C	7: 22,871,702	V160A	possibly damaging	Het
Vmn1r44	T	C	6: 89,893,689	L139P	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AACTTCTCAAGGTGCGGCTTG -3'
(R):5'- TTGAAACAACCGCCACTGG -3'

Sequencing Primer
(F):5'- GCTTGCTGCCGGCTTGC -3'
(R):5'- AGGCTTGGTCCCCATTGG -3'

Posted On

2021-10-11