Mutagenetix > Incidental Mutation

Incidental Mutation 'R5536:Tprn'

434806

Institutional Source

Beutler Lab

Gene Symbol

Tprn

Ensembl Gene

ENSMUSG00000048707

Gene Name

taperin

Synonyms

C430004E15Rik

MMRRC Submission

043094-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5536 (G1)

Quality Score

185

Status

Not validated

Chromosome

Chromosomal Location

25152630-25159897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25153369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 224 (A224T)

Ref Sequence

ENSEMBL: ENSMUSP00000109975 (fasta)

Gene Model

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

AlphaFold

A2AI08

Predicted Effect

probably benign
Transcript: ENSMUST00000114336
AA Change: A224T

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109975
Gene: ENSMUSG00000048707
AA Change: A224T

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,772,149 (GRCm39)	G446V	possibly damaging	Het
Aadac	T	G	3: 59,946,984 (GRCm39)	N227K	probably benign	Het
Acap1	C	T	11: 69,780,133 (GRCm39)	G74R	probably benign	Het
Adrm1	A	G	2: 179,813,981 (GRCm39)		probably benign	Het
Appl1	G	C	14: 26,645,737 (GRCm39)	S691*	probably null	Het
Atp2a2	T	C	5: 122,595,245 (GRCm39)	D1035G	probably benign	Het
AW551984	A	G	9: 39,504,169 (GRCm39)	I599T	probably benign	Het
Col23a1	C	A	11: 51,458,776 (GRCm39)	D304E	probably damaging	Het
Csmd1	T	C	8: 16,338,674 (GRCm39)	R478G	probably damaging	Het
Dnah7a	T	C	1: 53,464,412 (GRCm39)	N3660D	probably benign	Het
Drosha	T	A	15: 12,929,797 (GRCm39)	Y1331N	possibly damaging	Het
E2f6	T	G	12: 16,874,685 (GRCm39)	S256A	probably benign	Het
Evc	A	G	5: 37,483,927 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,817,403 (GRCm39)	I4379F	probably benign	Het
Galnt2	T	C	8: 125,050,412 (GRCm39)	C91R	probably damaging	Het
Gm3095	G	T	14: 15,170,371 (GRCm39)	M73I	probably benign	Het
Gpr179	T	A	11: 97,234,641 (GRCm39)	Q480L	probably damaging	Het
Gucy2g	T	A	19: 55,226,359 (GRCm39)	I186F	probably benign	Het
Hmcn1	T	A	1: 150,631,042 (GRCm39)	I919F	probably benign	Het
Kdm3a	A	C	6: 71,588,920 (GRCm39)	V363G	probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Lama5	C	T	2: 179,831,142 (GRCm39)	R1839H	probably damaging	Het
Lpo	T	C	11: 87,707,389 (GRCm39)	D208G	probably damaging	Het
Lpp	A	G	16: 24,663,956 (GRCm39)	D411G	possibly damaging	Het
Marco	T	C	1: 120,432,464 (GRCm39)	S8G	possibly damaging	Het
Mthfr	T	C	4: 148,128,940 (GRCm39)	F171S	probably damaging	Het
Nlrx1	A	T	9: 44,175,183 (GRCm39)	S198T	probably damaging	Het
Nol10	C	A	12: 17,466,138 (GRCm39)	S511*	probably null	Het
Nup153	T	C	13: 46,836,485 (GRCm39)	T1375A	probably benign	Het
Obscn	A	G	11: 58,998,697 (GRCm39)	S1367P	probably damaging	Het
Or4x6	A	G	2: 89,949,183 (GRCm39)	V253A	probably benign	Het
Pcdha7	G	A	18: 37,108,303 (GRCm39)	V443M	probably damaging	Het
Plekha1	G	T	7: 130,511,331 (GRCm39)	R305I	probably damaging	Het
Psmb2	T	A	4: 126,578,002 (GRCm39)	I60N	probably damaging	Het
Rad17	C	A	13: 100,767,612 (GRCm39)	G330C	probably damaging	Het
Slc5a6	A	G	5: 31,200,446 (GRCm39)	S80P	probably damaging	Het
Srgap2	T	A	1: 131,228,128 (GRCm39)		probably null	Het
Taf8	C	A	17: 47,805,407 (GRCm39)	R164L	possibly damaging	Het
Tmem87a	C	A	2: 120,227,911 (GRCm39)	D79Y	probably damaging	Het
Tmtc4	G	A	14: 123,170,291 (GRCm39)	R574W	probably benign	Het
Usf3	A	G	16: 44,037,733 (GRCm39)	T738A	probably benign	Het
Vmn2r54	A	C	7: 12,366,343 (GRCm39)	V197G	probably benign	Het
Zbtb40	G	T	4: 136,714,642 (GRCm39)	P1049Q	probably damaging	Het
Zfp551	A	T	7: 12,149,488 (GRCm39)	S640R	possibly damaging	Het
Zfp932	T	A	5: 110,157,713 (GRCm39)	C470*	probably null	Het
Zkscan8	T	C	13: 21,710,838 (GRCm39)	I91V	probably damaging	Het
Zmat4	T	C	8: 24,238,508 (GRCm39)	V30A	probably damaging	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
R0615:Tprn	UTSW	2	25,154,210 (GRCm39)	missense	probably damaging	0.97
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
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'- CTGGAAAAGTTCGACTCGCCTG -3'
(R):5'- TTCCACTTTCCCGGTACAGG -3'

Sequencing Primer
(F):5'- AGCTTCCCGTGGCGTCTG -3'
(R):5'- TTTCCCGGTACAGGCGGAG -3'

Posted On

2016-10-24