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

5730494M16Rik, 5730437P09Rik

MMRRC Submission

068644-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25260280-25301990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25284275 bp (GRCm39)

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: 137,775,874 (GRCm39)	P1688S	probably benign	Het
4933412E24Rik	T	C	15: 59,887,919 (GRCm39)	T174A	probably benign	Het
Actl10	T	A	2: 154,395,068 (GRCm39)	L340Q	probably damaging	Het
Adra1d	T	C	2: 131,403,397 (GRCm39)	E231G	probably damaging	Het
Agt	T	A	8: 125,291,028 (GRCm39)	D93V	probably benign	Het
Als2cl	G	T	9: 110,718,282 (GRCm39)	R341L	possibly damaging	Het
Ankrd63	G	T	2: 118,533,549 (GRCm39)	A124E	unknown	Het
Aqp8	T	C	7: 123,065,922 (GRCm39)	L239P	probably damaging	Het
Arhgef11	A	G	3: 87,593,336 (GRCm39)	E85G	probably damaging	Het
Cacng4	T	A	11: 107,685,209 (GRCm39)	I28F	possibly damaging	Het
Cc2d1a	T	C	8: 84,861,599 (GRCm39)	D741G	probably damaging	Het
Cct8l1	T	A	5: 25,722,210 (GRCm39)	N308K	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Chrna5	T	A	9: 54,905,348 (GRCm39)	D53E	probably benign	Het
Dap3	A	T	3: 88,835,514 (GRCm39)		probably null	Het
Disp2	A	G	2: 118,620,489 (GRCm39)	Y407C	probably damaging	Het
Dnah1	A	G	14: 31,008,771 (GRCm39)	M2001T	probably benign	Het
Dysf	C	G	6: 83,996,466 (GRCm39)		probably benign	Het
Eif2ak1	A	T	5: 143,816,264 (GRCm39)	K187N	probably damaging	Het
Ethe1	T	C	7: 24,294,496 (GRCm39)	S100P	probably damaging	Het
Fam186a	G	C	15: 99,842,604 (GRCm39)	I1213M	possibly damaging	Het
Gbp9	A	G	5: 105,232,875 (GRCm39)	F259S	probably damaging	Het
Heatr5b	G	A	17: 79,072,834 (GRCm39)	H1610Y	possibly damaging	Het
Hk2	T	A	6: 82,705,747 (GRCm39)	D852V	probably benign	Het
Hmcn1	T	A	1: 150,531,570 (GRCm39)	Q3233L	possibly damaging	Het
Htt	T	A	5: 35,046,791 (GRCm39)	V2369E	probably benign	Het
Il9	C	A	13: 56,629,942 (GRCm39)	E35*	probably null	Het
Itga8	A	T	2: 12,137,328 (GRCm39)	C933*	probably null	Het
Jak3	A	G	8: 72,138,164 (GRCm39)	K872E	possibly damaging	Het
Kcnmb2	A	C	3: 32,252,266 (GRCm39)	M156L	probably benign	Het
Kdm4a	C	T	4: 117,999,480 (GRCm39)	V981I	unknown	Het
Klhl38	A	T	15: 58,178,225 (GRCm39)	*582R	probably null	Het
Map3k19	A	G	1: 127,751,866 (GRCm39)	F495S	probably damaging	Het
Mpeg1	T	A	19: 12,440,443 (GRCm39)	W634R	probably damaging	Het
Mrpl4	T	A	9: 20,918,978 (GRCm39)	Y202N	possibly damaging	Het
Nme8	A	G	13: 19,859,978 (GRCm39)	V214A	probably damaging	Het
Or4k36	A	T	2: 111,146,239 (GRCm39)	R138S	possibly damaging	Het
Or8k33	G	A	2: 86,384,297 (GRCm39)	T57M	probably damaging	Het
Pcdhgb6	A	G	18: 37,876,451 (GRCm39)	I386M	possibly damaging	Het
Pitpnm1	T	A	19: 4,162,356 (GRCm39)	V1062E	possibly damaging	Het
Plekhm3	G	A	1: 64,922,355 (GRCm39)	R607W	possibly damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Prap1	C	A	7: 139,676,982 (GRCm39)	H141Q	probably damaging	Het
Prep	T	A	10: 44,971,252 (GRCm39)	Y187*	probably null	Het
Rergl	T	G	6: 139,478,865 (GRCm39)	E3A	probably benign	Het
Rnf19a	A	T	15: 36,242,021 (GRCm39)	S673T	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
St18	G	A	1: 6,880,826 (GRCm39)	E440K	probably damaging	Het
Syne1	T	A	10: 5,309,074 (GRCm39)	Q645L	probably damaging	Het
Tmcc1	C	A	6: 116,111,099 (GRCm39)	V61L		Het
Tmcc1	A	T	6: 116,111,098 (GRCm39)	V61E		Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tmem201	C	A	4: 149,814,138 (GRCm39)	R154L	possibly damaging	Het
Tmem71	G	A	15: 66,410,655 (GRCm39)	A239V	possibly damaging	Het
Tssc4	T	C	7: 142,623,436 (GRCm39)	V22A	unknown	Het
Ttn	T	A	2: 76,697,539 (GRCm39)	L227F		Het
Ttn	T	A	2: 76,723,128 (GRCm39)	E6496D	unknown	Het
Vps50	G	T	6: 3,522,338 (GRCm39)	G169*	probably null	Het
Yy1	CGGCGACCACGGCGGCGGCGGGGGCG	CGGCG	12: 108,759,506 (GRCm39)		probably benign	Het
Zfp407	T	C	18: 84,361,185 (GRCm39)	K1703R	probably benign	Het
Zfp616	T	G	11: 73,976,523 (GRCm39)	C931G	probably damaging	Het
Zfp949	G	A	9: 88,451,417 (GRCm39)	C329Y	probably damaging	Het
Zswim5	T	A	4: 116,822,887 (GRCm39)	D452E	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
IGL02184:Tpgs2	APN	18	25,273,630 (GRCm39)	missense	probably damaging	1.00
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
R8818:Tpgs2	UTSW	18	25,291,365 (GRCm39)	missense	probably damaging	1.00
R9009:Tpgs2	UTSW	18	25,301,777 (GRCm39)	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