Mutagenetix > Incidental Mutation

Incidental Mutation 'R6124:Tppp2'

485890

Institutional Source

Beutler Lab

Gene Symbol

Tppp2

Ensembl Gene

ENSMUSG00000008813

Gene Name

tubulin polymerization-promoting protein family member 2

Synonyms

LOC219038, LOC386487

MMRRC Submission

044271-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R6124 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52155887-52158161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52156937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 105 (T105S)

Ref Sequence

ENSEMBL: ENSMUSP00000136454 (fasta)

Gene Model

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

AlphaFold

Q0P5Y3

Predicted Effect

probably benign
Transcript: ENSMUST00000008957
AA Change: T105S

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000008957
Gene: ENSMUSG00000008813
AA Change: T105S

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

probably benign
Transcript: ENSMUST00000177625
AA Change: T105S

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000136454
Gene: ENSMUSG00000008813
AA Change: T105S

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,331,622 (GRCm39)	N864S	probably benign	Het
Ank2	C	T	3: 127,041,800 (GRCm39)	V35M	probably benign	Het
Apc2	T	C	10: 80,142,185 (GRCm39)	M368T	probably damaging	Het
Atp8b3	G	A	10: 80,365,515 (GRCm39)	T413M	probably damaging	Het
Cxcr4	A	G	1: 128,517,397 (GRCm39)	L86P	probably damaging	Het
Cyfip1	A	G	7: 55,547,691 (GRCm39)	Y598C	probably benign	Het
Epg5	A	G	18: 78,073,260 (GRCm39)	N2428D	probably benign	Het
Fastkd3	C	T	13: 68,738,337 (GRCm39)	Q32*	probably null	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm5422	A	G	10: 31,125,396 (GRCm39)		noncoding transcript	Het
Gm9913	T	A	2: 125,348,393 (GRCm39)		probably benign	Het
Hgfac	A	G	5: 35,201,728 (GRCm39)	N287S	probably benign	Het
Hook3	A	T	8: 26,549,300 (GRCm39)	N181K	probably benign	Het
Hormad1	A	G	3: 95,483,613 (GRCm39)	T142A	probably benign	Het
Klrh1	A	T	6: 129,745,098 (GRCm39)	F166Y	probably benign	Het
Kplce	G	T	3: 92,776,365 (GRCm39)	P106Q	probably damaging	Het
Lonrf1	T	A	8: 36,696,354 (GRCm39)	N565I	probably damaging	Het
Mast1	A	G	8: 85,651,936 (GRCm39)	S349P	probably benign	Het
Mcee	T	A	7: 64,050,023 (GRCm39)	N51K	probably damaging	Het
Mfsd6	A	C	1: 52,747,411 (GRCm39)	F485V	probably damaging	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Nlrp6	T	A	7: 140,503,160 (GRCm39)	V422E	probably damaging	Het
Nrap	A	G	19: 56,374,458 (GRCm39)	S23P	probably damaging	Het
Nsd2	T	A	5: 34,000,610 (GRCm39)	H42Q	probably benign	Het
Obscn	A	T	11: 58,969,870 (GRCm39)	S91T	probably benign	Het
Or10ak13	C	A	4: 118,639,392 (GRCm39)	C130F	probably damaging	Het
Or10j2	T	A	1: 173,097,846 (GRCm39)	Y35N	probably damaging	Het
Or13a20	A	T	7: 140,232,507 (GRCm39)	D205V	probably damaging	Het
Or5p72	A	T	7: 108,022,725 (GRCm39)		probably null	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or6d15	T	C	6: 116,559,446 (GRCm39)	I154V	probably benign	Het
Papss2	T	A	19: 32,614,528 (GRCm39)	N81K	probably damaging	Het
Plekhn1	A	G	4: 156,309,696 (GRCm39)	I147T	possibly damaging	Het
Ptgfrn	C	T	3: 100,980,405 (GRCm39)	E312K	probably damaging	Het
Serpinb1b	T	C	13: 33,277,796 (GRCm39)	V343A	probably benign	Het
Sis	T	C	3: 72,860,544 (GRCm39)	N261S	possibly damaging	Het
Slc41a2	T	C	10: 83,133,116 (GRCm39)	N310S	probably damaging	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Snrnp48	T	A	13: 38,400,439 (GRCm39)	I182N	possibly damaging	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Vmn1r19	A	C	6: 57,381,602 (GRCm39)	M52L	probably benign	Het
Vmn2r94	T	A	17: 18,464,321 (GRCm39)	R656S	probably benign	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
R7372:Tppp2	UTSW	14	52,156,865 (GRCm39)	missense	probably benign	0.08
R7506:Tppp2	UTSW	14	52,158,058 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- CCACAGTTACTGGATTTCTGTCTG -3'
(R):5'- CTGGGCTTGAGATGAACATTCTC -3'

Sequencing Primer
(F):5'- ATTTCTGTCTGACTGGCCAG -3'
(R):5'- GGCTTGAGATGAACATTCTCACTGAG -3'

Posted On

2017-08-16