Mutagenetix > Incidental Mutation

Incidental Mutation 'R8808:Tpgs2'

672243

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 #

R8808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25127223-25169007 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25151218 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 78 (W78R)

Ref Sequence

ENSEMBL: ENSMUSP00000111484 (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: W78R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269
AA Change: W78R

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: W78R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269
AA Change: W78R

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

Meta Mutation Damage Score

0.9530

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

95% (60/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,070,113	P1688S	probably benign	Het
4933412E24Rik	T	C	15: 60,016,070	T174A	probably benign	Het
Actl10	T	A	2: 154,553,148	L340Q	probably damaging	Het
Adra1d	T	C	2: 131,561,477	E231G	probably damaging	Het
Agt	T	A	8: 124,564,289	D93V	probably benign	Het
Als2cl	G	T	9: 110,889,214	R341L	possibly damaging	Het
Ankrd63	G	T	2: 118,703,068	A124E	unknown	Het
Aqp8	T	C	7: 123,466,699	L239P	probably damaging	Het
Arhgef11	A	G	3: 87,686,029	E85G	probably damaging	Het
Cacng4	T	A	11: 107,794,383	I28F	possibly damaging	Het
Cc2d1a	T	C	8: 84,134,970	D741G	probably damaging	Het
Cct8l1	T	A	5: 25,517,212	N308K	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 115,012,431		probably benign	Het
Chrna5	T	A	9: 54,998,064	D53E	probably benign	Het
Dap3	A	T	3: 88,928,207		probably null	Het
Disp2	A	G	2: 118,790,008	Y407C	probably damaging	Het
Dnah1	A	G	14: 31,286,814	M2001T	probably benign	Het
Dysf	C	G	6: 84,019,484		probably benign	Het
Eif2ak1	A	T	5: 143,879,446	K187N	probably damaging	Het
Ethe1	T	C	7: 24,595,071	S100P	probably damaging	Het
Fam186a	G	C	15: 99,944,723	I1213M	possibly damaging	Het
Fam205c	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823		probably benign	Het
Gbp9	A	G	5: 105,085,009	F259S	probably damaging	Het
Heatr5b	G	A	17: 78,765,405	H1610Y	possibly damaging	Het
Hk2	T	A	6: 82,728,766	D852V	probably benign	Het
Hmcn1	T	A	1: 150,655,819	Q3233L	possibly damaging	Het
Htt	T	A	5: 34,889,447	V2369E	probably benign	Het
Il9	C	A	13: 56,482,129	E35*	probably null	Het
Itga8	A	T	2: 12,132,517	C933*	probably null	Het
Jak3	A	G	8: 71,685,520	K872E	possibly damaging	Het
Kcnmb2	A	C	3: 32,198,117	M156L	probably benign	Het
Kdm4a	C	T	4: 118,142,283	V981I	unknown	Het
Klhl38	A	T	15: 58,314,829	*582R	probably null	Het
Map3k19	A	G	1: 127,824,129	F495S	probably damaging	Het
Mpeg1	T	A	19: 12,463,079	W634R	probably damaging	Het
Mrpl4	T	A	9: 21,007,682	Y202N	possibly damaging	Het
Nme8	A	G	13: 19,675,808	V214A	probably damaging	Het
Olfr1080	G	A	2: 86,553,953	T57M	probably damaging	Het
Olfr1280	A	T	2: 111,315,894	R138S	possibly damaging	Het
Pcdhgb6	A	G	18: 37,743,398	I386M	possibly damaging	Het
Pitpnm1	T	A	19: 4,112,356	V1062E	possibly damaging	Het
Plekhm3	G	A	1: 64,883,196	R607W	possibly damaging	Het
Plppr2	TCGCC	TC	9: 21,944,431		probably benign	Het
Prap1	C	A	7: 140,097,069	H141Q	probably damaging	Het
Prep	T	A	10: 45,095,156	Y187*	probably null	Het
Rergl	T	G	6: 139,501,867	E3A	probably benign	Het
Rnf19a	A	T	15: 36,241,875	S673T	probably benign	Het
St18	G	A	1: 6,810,602	E440K	probably damaging	Het
Syne1	T	A	10: 5,359,074	Q645L	probably damaging	Het
Tmcc1	A	T	6: 116,134,137	V61E		Het
Tmcc1	C	A	6: 116,134,138	V61L		Het
Tmem135	G	C	7: 89,147,978	L357V	probably benign	Het
Tmem201	C	A	4: 149,729,681	R154L	possibly damaging	Het
Tmem71	G	A	15: 66,538,806	A239V	possibly damaging	Het
Tssc4	T	C	7: 143,069,699	V22A	unknown	Het
Ttn	T	A	2: 76,867,195	L227F		Het
Ttn	T	A	2: 76,892,784	E6496D	unknown	Het
Vps50	G	T	6: 3,522,338	G169*	probably null	Het
Yy1	CGGCGACCACGGCGGCGGCGGGGGCG	CGGCG	12: 108,793,580		probably benign	Het
Zfp407	T	C	18: 84,343,060	K1703R	probably benign	Het
Zfp616	T	G	11: 74,085,697	C931G	probably damaging	Het
Zfp949	G	A	9: 88,569,364	C329Y	probably damaging	Het
Zswim5	T	A	4: 116,965,690	D452E	probably benign	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
R8818:Tpgs2	UTSW	18	25158308	missense	probably damaging	1.00
R9009:Tpgs2	UTSW	18	25168720	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GCACTGATGGCAGCAATTGG -3'
(R):5'- TGCTAGGCCCAATACCTCTC -3'

Sequencing Primer
(F):5'- CAATTGGCTTTGGTGGGGGAG -3'
(R):5'- GGCCCAATACCTCTCTAGTAATTTTG -3'

Posted On

2021-04-30