Mutagenetix > Incidental Mutation

Incidental Mutation 'R7506:Tppp2'

581814

Institutional Source

Beutler Lab

Gene Symbol

Tppp2

Ensembl Gene

ENSMUSG00000008813

Gene Name

tubulin polymerization-promoting protein family member 2

Synonyms

LOC219038, LOC386487

MMRRC Submission

045579-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

R7506 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52155887-52158161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52158058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 168 (K168E)

Ref Sequence

ENSEMBL: ENSMUSP00000008957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008957] [ENSMUST00000089771] [ENSMUST00000177625]

AlphaFold

Q0P5Y3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000008957
AA Change: K168E

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000008957
Gene: ENSMUSG00000008813
AA Change: K168E

Domain	Start	End	E-Value	Type
Pfam:p25-alpha	6	167	1.6e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089771

SMART Domains

Protein: ENSMUSP00000087203
Gene: ENSMUSG00000068392

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:RnaseA	27	149	1.9e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177625
AA Change: K168E

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136454
Gene: ENSMUSG00000008813
AA Change: K168E

Domain	Start	End	E-Value	Type
Pfam:p25-alpha	5	169	5.9e-57	PFAM

Meta Mutation Damage Score

0.3809

Coding Region Coverage

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

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,209,202 (GRCm39)	V31I	probably benign	Het
4933430I17Rik	T	C	4: 62,450,498 (GRCm39)	V24A	possibly damaging	Het
Adamtsl3	A	T	7: 82,164,186 (GRCm39)	R334W	probably damaging	Het
Aox1	G	A	1: 58,088,562 (GRCm39)	C116Y	probably damaging	Het
B3gntl1	A	T	11: 121,561,740 (GRCm39)	I74N	probably damaging	Het
Bicra	C	T	7: 15,722,138 (GRCm39)	V460M	possibly damaging	Het
Ccdc18	G	A	5: 108,311,605 (GRCm39)	C437Y	possibly damaging	Het
Cdh6	A	G	15: 13,034,396 (GRCm39)	S755P	probably damaging	Het
Crtc2	G	T	3: 90,166,519 (GRCm39)	A165S	probably damaging	Het
Cwf19l2	C	T	9: 3,456,775 (GRCm39)	H703Y	probably damaging	Het
Cyc1	C	A	15: 76,227,885 (GRCm39)	T41K	probably benign	Het
Defb28	A	T	2: 152,360,221 (GRCm39)	H12L	possibly damaging	Het
Dsg3	T	A	18: 20,666,521 (GRCm39)	C577S	probably benign	Het
Ggt6	G	T	11: 72,328,724 (GRCm39)	C408F	possibly damaging	Het
Gm3278	T	A	14: 16,080,479 (GRCm39)	Y97N	probably damaging	Het
Gpr155	A	G	2: 73,198,683 (GRCm39)	L412P	probably damaging	Het
Gucd1	T	C	10: 75,347,019 (GRCm39)	H77R	probably benign	Het
H2bc8	G	A	13: 23,755,658 (GRCm39)	A18T	unknown	Het
Hat1	T	A	2: 71,250,691 (GRCm39)	I158N	probably damaging	Het
Hhla1	C	T	15: 65,808,231 (GRCm39)	W271*	probably null	Het
Igsf10	T	A	3: 59,226,775 (GRCm39)	L2299F	probably damaging	Het
Iqsec1	A	G	6: 90,644,891 (GRCm39)	S914P	probably damaging	Het
Iqsec1	G	T	6: 90,639,788 (GRCm39)	H983Q	possibly damaging	Het
Irx2	G	T	13: 72,777,328 (GRCm39)	G50C	probably damaging	Het
Kif26b	T	C	1: 178,357,064 (GRCm39)		probably benign	Het
Lmo7	A	G	14: 102,157,045 (GRCm39)	E1405G	unknown	Het
Mdm2	T	C	10: 117,526,596 (GRCm39)	D330G	possibly damaging	Het
Mgat5	A	C	1: 127,294,192 (GRCm39)	D178A	probably benign	Het
Mier2	C	A	10: 79,386,176 (GRCm39)	R25L	probably benign	Het
Mlip	T	C	9: 77,072,085 (GRCm39)	K257E	probably damaging	Het
Mtfr2	T	C	10: 20,229,131 (GRCm39)	S80P	probably benign	Het
Ndst2	A	G	14: 20,780,153 (GRCm39)	V29A	probably benign	Het
Negr1	T	G	3: 156,774,870 (GRCm39)	Y195*	probably null	Het
Nptn	T	C	9: 58,526,156 (GRCm39)	L101P	probably damaging	Het
Nrip1	G	A	16: 76,091,347 (GRCm39)	T70I	probably damaging	Het
Nrtn	C	T	17: 57,058,633 (GRCm39)	V123M	probably damaging	Het
Onecut1	T	A	9: 74,770,522 (GRCm39)	F315Y	possibly damaging	Het
Or1p1	A	T	11: 74,179,949 (GRCm39)	H159L	possibly damaging	Het
P4htm	A	G	9: 108,460,878 (GRCm39)	L198S	probably damaging	Het
Pappa	A	C	4: 65,149,419 (GRCm39)	I920L	probably benign	Het
Pcdhgb5	A	C	18: 37,865,525 (GRCm39)	D440A	probably damaging	Het
Ppard	A	T	17: 28,517,735 (GRCm39)	N268Y	possibly damaging	Het
Rapgef6	T	A	11: 54,526,997 (GRCm39)	S563T	probably benign	Het
Rtn3	T	A	19: 7,407,118 (GRCm39)	E949D	probably benign	Het
Sf3a1	T	C	11: 4,127,561 (GRCm39)	M629T	probably benign	Het
Slc39a8	T	C	3: 135,590,067 (GRCm39)	I319T	probably benign	Het
Sorcs1	C	T	19: 50,171,112 (GRCm39)	W925*	probably null	Het
Spag9	G	A	11: 93,999,290 (GRCm39)	D1069N	probably damaging	Het
Taar7a	A	G	10: 23,868,892 (GRCm39)	V163A	possibly damaging	Het
Tmem150a	G	A	6: 72,333,753 (GRCm39)		probably null	Het
Tnxb	G	A	17: 34,934,665 (GRCm39)	V2425I	possibly damaging	Het
Ttn	T	A	2: 76,719,812 (GRCm39)	D7099V	unknown	Het
Vmn1r41	A	T	6: 89,724,159 (GRCm39)	R50*	probably null	Het
Vmn1r60	T	C	7: 5,547,861 (GRCm39)	K80E		Het
Vmn2r18	A	G	5: 151,508,485 (GRCm39)	F213S	possibly damaging	Het
Vmn2r26	G	A	6: 124,016,700 (GRCm39)	S388N	probably benign	Het
Vmn2r63	A	T	7: 42,576,391 (GRCm39)	F474Y	probably damaging	Het
Zc3hav1	G	A	6: 38,309,875 (GRCm39)	R316*	probably null	Het
Zfp654	A	T	16: 64,612,211 (GRCm39)	I225N	probably damaging	Het
Zfp97	A	G	17: 17,365,542 (GRCm39)	E347G	probably damaging	Het

Other mutations in Tppp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0032:Tppp2	UTSW	14	52,156,866 (GRCm39)	missense	possibly damaging	0.70
R0032:Tppp2	UTSW	14	52,156,866 (GRCm39)	missense	possibly damaging	0.70
R0352:Tppp2	UTSW	14	52,156,807 (GRCm39)	missense	possibly damaging	0.58
R0932:Tppp2	UTSW	14	52,157,881 (GRCm39)	splice site	probably benign
R1860:Tppp2	UTSW	14	52,158,062 (GRCm39)	missense	probably benign	0.00
R1861:Tppp2	UTSW	14	52,158,062 (GRCm39)	missense	probably benign	0.00
R4087:Tppp2	UTSW	14	52,156,957 (GRCm39)	splice site	probably null
R4484:Tppp2	UTSW	14	52,156,868 (GRCm39)	missense	probably damaging	0.99
R4801:Tppp2	UTSW	14	52,156,805 (GRCm39)	missense	probably benign	0.00
R4802:Tppp2	UTSW	14	52,156,805 (GRCm39)	missense	probably benign	0.00
R5071:Tppp2	UTSW	14	52,157,912 (GRCm39)	missense	probably benign	0.01
R5073:Tppp2	UTSW	14	52,157,912 (GRCm39)	missense	probably benign	0.01
R5103:Tppp2	UTSW	14	52,156,909 (GRCm39)	missense	probably benign	0.05
R5407:Tppp2	UTSW	14	52,156,955 (GRCm39)	splice site	probably null
R5992:Tppp2	UTSW	14	52,156,392 (GRCm39)	missense	probably benign	0.08
R6124:Tppp2	UTSW	14	52,156,937 (GRCm39)	missense	probably benign	0.12
R7372:Tppp2	UTSW	14	52,156,865 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AAAGGAGGGCTTCAAACTCACC -3'
(R):5'- CTATGGCTGGTATGCATGAGGC -3'

Sequencing Primer
(F):5'- GAGGGCTTCAAACTCACCCTCTG -3'
(R):5'- CTGGTATGCATGAGGCTTTCTC -3'

Posted On

2019-10-17