Mutagenetix > Incidental Mutation

Incidental Mutation 'R0615:Tprn'

54990

Institutional Source

Beutler Lab

Gene Symbol

Tprn

Ensembl Gene

ENSMUSG00000048707

Gene Name

taperin

Synonyms

C430004E15Rik

MMRRC Submission

038804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0615 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25152630-25159897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25154210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 504 (E504G)

Ref Sequence

ENSEMBL: ENSMUSP00000109975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114336]

AlphaFold

A2AI08

Predicted Effect

probably damaging
Transcript: ENSMUST00000114336
AA Change: E504G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109975
Gene: ENSMUSG00000048707
AA Change: E504G

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	8	89	8.3e-38	PFAM
low complexity region	105	117	N/A	INTRINSIC
internal_repeat_1	149	273	1.71e-5	PROSPERO
low complexity region	290	322	N/A	INTRINSIC
low complexity region	401	410	N/A	INTRINSIC
Pfam:Phostensin	506	645	1.8e-65	PFAM
low complexity region	647	665	N/A	INTRINSIC
low complexity region	684	697	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155738

Meta Mutation Damage Score

0.0856

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hearing loss and degeneration of hair cell stereocilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	T	C	19: 42,040,962 (GRCm39)	I31T	possibly damaging	Het
Abca13	A	G	11: 9,206,197 (GRCm39)	I166V	probably damaging	Het
Acaa2	G	T	18: 74,931,517 (GRCm39)	V238L	probably benign	Het
Ahsg	A	T	16: 22,717,805 (GRCm39)	I296F	possibly damaging	Het
Aspm	T	A	1: 139,415,027 (GRCm39)	V1436D	probably damaging	Het
Ate1	A	T	7: 130,115,563 (GRCm39)		probably benign	Het
Atosa	T	A	9: 74,911,570 (GRCm39)	Y14N	probably damaging	Het
Atp1a4	A	T	1: 172,059,627 (GRCm39)		probably benign	Het
Aurkc	A	T	7: 7,005,402 (GRCm39)	I223L	possibly damaging	Het
Bckdha	G	T	7: 25,341,210 (GRCm39)	D50E	probably benign	Het
Brf2	C	T	8: 27,614,059 (GRCm39)	E376K	probably benign	Het
Cdk9	C	A	2: 32,599,813 (GRCm39)	L141F	possibly damaging	Het
Cgn	A	C	3: 94,678,024 (GRCm39)		probably benign	Het
Clcn1	G	A	6: 42,282,509 (GRCm39)	V526I	probably damaging	Het
Cnot2	A	G	10: 116,334,141 (GRCm39)	V343A	possibly damaging	Het
Commd2	A	T	3: 57,554,116 (GRCm39)	V195D	possibly damaging	Het
Cubn	C	T	2: 13,365,063 (GRCm39)		probably null	Het
Eif2ak4	C	T	2: 118,266,666 (GRCm39)	T729M	probably damaging	Het
Elac1	A	T	18: 73,871,954 (GRCm39)	V347E	probably damaging	Het
Fam209	T	C	2: 172,316,053 (GRCm39)	S143P	probably benign	Het
Fam20c	G	A	5: 138,793,241 (GRCm39)	R454Q	probably damaging	Het
Faxc	C	T	4: 21,958,608 (GRCm39)	S255L	probably benign	Het
Fem1al	C	A	11: 29,774,515 (GRCm39)	R314L	probably damaging	Het
Foxj1	T	C	11: 116,224,908 (GRCm39)	D153G	possibly damaging	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Lmo7	T	A	14: 102,114,295 (GRCm39)	Y12*	probably null	Het
Matn3	T	G	12: 9,013,594 (GRCm39)	C425W	probably damaging	Het
Mmd2	A	T	5: 142,550,668 (GRCm39)	M190K	probably benign	Het
Morn2	A	T	17: 80,603,026 (GRCm39)	T102S	probably damaging	Het
Nr3c2	A	C	8: 77,912,518 (GRCm39)	T710P	probably benign	Het
Nrros	C	A	16: 31,962,903 (GRCm39)	L343F	probably damaging	Het
Ntrk2	C	T	13: 59,276,000 (GRCm39)	Q767*	probably null	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or4k47	C	T	2: 111,452,264 (GRCm39)	D52N	possibly damaging	Het
Plekhf2	C	T	4: 10,991,330 (GRCm39)	R4H	probably benign	Het
Ppox	A	G	1: 171,105,387 (GRCm39)		probably benign	Het
Qprt	T	A	7: 126,708,248 (GRCm39)	D61V	probably damaging	Het
Reln	A	G	5: 22,215,148 (GRCm39)	V1101A	probably benign	Het
Sbno1	T	C	5: 124,548,202 (GRCm39)	N124D	probably damaging	Het
Scx	C	T	15: 76,342,295 (GRCm39)	P165L	probably benign	Het
Sema6d	T	C	2: 124,496,055 (GRCm39)		probably benign	Het
Serf2	T	C	2: 121,281,336 (GRCm39)	F92L	probably benign	Het
Synpo2	A	T	3: 122,910,936 (GRCm39)	N236K	probably damaging	Het
Tbc1d32	C	A	10: 56,100,736 (GRCm39)	D81Y	probably benign	Het
Terf2	G	A	8: 107,809,622 (GRCm39)	T232I	possibly damaging	Het
Tpd52l2	A	G	2: 181,143,744 (GRCm39)	E50G	probably damaging	Het
Tufm	G	T	7: 126,086,654 (GRCm39)	R12L	probably benign	Het
Vmn2r8	A	G	5: 108,947,195 (GRCm39)	F519S	probably damaging	Het
Vwa8	T	C	14: 79,145,590 (GRCm39)	V89A	probably benign	Het
Wnt3	T	C	11: 103,703,207 (GRCm39)	I230T	possibly damaging	Het
Zan	A	T	5: 137,466,693 (GRCm39)	F388Y	probably damaging	Het
Zfp474	C	T	18: 52,771,421 (GRCm39)	L25F	probably benign	Het

Other mutations in Tprn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03072:Tprn	APN	2	25,154,530 (GRCm39)	missense	probably damaging	1.00
IGL03139:Tprn	APN	2	25,154,066 (GRCm39)	missense	probably benign	0.31
R0568:Tprn	UTSW	2	25,154,333 (GRCm39)	missense	probably damaging	1.00
R0706:Tprn	UTSW	2	25,154,503 (GRCm39)	missense	probably damaging	1.00
R1675:Tprn	UTSW	2	25,154,421 (GRCm39)	missense	probably benign	0.01
R2508:Tprn	UTSW	2	25,158,940 (GRCm39)	missense	possibly damaging	0.95
R4257:Tprn	UTSW	2	25,154,494 (GRCm39)	missense	probably damaging	1.00
R4493:Tprn	UTSW	2	25,158,904 (GRCm39)	missense	probably damaging	1.00
R4494:Tprn	UTSW	2	25,158,904 (GRCm39)	missense	probably damaging	1.00
R4898:Tprn	UTSW	2	25,158,845 (GRCm39)	missense	probably damaging	0.99
R5536:Tprn	UTSW	2	25,153,369 (GRCm39)	missense	probably benign	0.07
R5537:Tprn	UTSW	2	25,153,369 (GRCm39)	missense	probably benign	0.07
R6753:Tprn	UTSW	2	25,154,050 (GRCm39)	missense	probably benign
R7554:Tprn	UTSW	2	25,153,811 (GRCm39)	missense	probably damaging	1.00
R7887:Tprn	UTSW	2	25,154,024 (GRCm39)	missense	probably damaging	0.97
R8755:Tprn	UTSW	2	25,154,027 (GRCm39)	missense	probably benign	0.21
R8849:Tprn	UTSW	2	25,159,171 (GRCm39)	missense	probably damaging	1.00
R9171:Tprn	UTSW	2	25,152,799 (GRCm39)	missense	probably benign
X0003:Tprn	UTSW	2	25,158,923 (GRCm39)	unclassified	probably benign
X0010:Tprn	UTSW	2	25,158,923 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCAGCAATTTCTGACACAGACAAG -3'
(R):5'- GATTTACGGAGAAGACCTCCATGCC -3'

Sequencing Primer
(F):5'- CAGACAAGTGTGTTAGGTGGC -3'
(R):5'- GGACTGACCATTGGTCTGAC -3'

Posted On

2013-07-11