Mutagenetix > Incidental Mutation

Incidental Mutation 'R0032:Tppp2'

15275

Institutional Source

Beutler Lab

Gene Symbol

Tppp2

Ensembl Gene

ENSMUSG00000008813

Gene Name

tubulin polymerization-promoting protein family member 2

Synonyms

LOC219038, LOC386487

MMRRC Submission

038326-MU

Accession Numbers

Essential gene?

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

Stock #

R0032 (G1) of strain 731

Quality Score

Status

Validated

Chromosome

Chromosomal Location

52155887-52158161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 52156866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 81 (R81L)

Ref Sequence

ENSEMBL: ENSMUSP00000136454 (fasta)

Gene Model

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

AlphaFold

Q0P5Y3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000008957
AA Change: R81L

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000008957
Gene: ENSMUSG00000008813
AA Change: R81L

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: R81L

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136454
Gene: ENSMUSG00000008813
AA Change: R81L

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

Meta Mutation Damage Score

0.5560

Coding Region Coverage

1x: 80.9%
3x: 73.4%
10x: 52.4%
20x: 32.5%

Validation Efficiency

94% (87/93)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	A	10: 106,959,156 (GRCm39)	T97S	probably benign	Het
Adcy1	T	C	11: 7,094,729 (GRCm39)	S552P	possibly damaging	Het
C2cd3	T	A	7: 100,093,652 (GRCm39)		probably benign	Het
Cd86	A	T	16: 36,441,235 (GRCm39)	S77R	probably damaging	Het
Cfap54	C	T	10: 92,768,559 (GRCm39)	R188H	probably benign	Het
Cpne8	T	A	15: 90,453,771 (GRCm39)		probably benign	Het
Ctsg	T	A	14: 56,339,196 (GRCm39)	I21F	probably damaging	Het
Cyp2j9	T	G	4: 96,457,043 (GRCm39)	N476T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,746,387 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,671,057 (GRCm39)	L995*	probably null	Het
Dnah10	A	G	5: 124,877,955 (GRCm39)	K2623R	possibly damaging	Het
Dnajc21	G	T	15: 10,461,963 (GRCm39)	T146K	probably benign	Het
Dnmbp	A	C	19: 43,891,158 (GRCm39)	L203R	probably damaging	Het
Eif4g1	C	T	16: 20,504,648 (GRCm39)	S829F	probably damaging	Het
Enkur	T	C	2: 21,194,115 (GRCm39)	I153V	probably benign	Het
Erf	T	C	7: 24,944,500 (GRCm39)	Y277C	possibly damaging	Het
Fcsk	G	A	8: 111,618,735 (GRCm39)	T341M	possibly damaging	Het
Fstl5	T	A	3: 76,555,742 (GRCm39)		probably benign	Het
Grm3	A	G	5: 9,561,452 (GRCm39)		probably null	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Ipo8	A	G	6: 148,712,209 (GRCm39)	C261R	probably damaging	Het
Itga11	T	C	9: 62,681,377 (GRCm39)	F998L	probably benign	Het
Krt74	T	A	15: 101,669,887 (GRCm39)		noncoding transcript	Het
Me2	T	G	18: 73,927,596 (GRCm39)	M219L	probably benign	Het
Mlh3	A	G	12: 85,292,523 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 41,015,321 (GRCm39)	V842E	probably benign	Het
Oma1	T	A	4: 103,223,209 (GRCm39)	S465T	possibly damaging	Het
Opa1	A	T	16: 29,433,887 (GRCm39)	H574L	probably damaging	Het
Pcsk5	T	C	19: 17,542,179 (GRCm39)	N804S	possibly damaging	Het
Pde4a	C	A	9: 21,112,728 (GRCm39)		probably benign	Het
Pilra	T	A	5: 137,829,527 (GRCm39)	D179V	probably damaging	Het
Piwil1	G	A	5: 128,820,344 (GRCm39)	S247N	probably benign	Het
Prss58	T	G	6: 40,872,633 (GRCm39)	T158P	probably benign	Het
Slc35e3	T	C	10: 117,580,837 (GRCm39)	M156V	probably benign	Het
Slit2	G	A	5: 48,414,198 (GRCm39)	R938Q	probably damaging	Het
Syt8	T	C	7: 141,992,926 (GRCm39)	V152A	probably benign	Het
Trpc3	A	G	3: 36,698,405 (GRCm39)	I618T	probably damaging	Het
Zc3h4	T	A	7: 16,168,565 (GRCm39)	D891E	unknown	Het
Zfp120	A	T	2: 149,959,512 (GRCm39)	V270E	possibly 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
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
R7506:Tppp2	UTSW	14	52,158,058 (GRCm39)	missense	possibly damaging	0.74

Posted On

2012-12-17