Mutagenetix > Incidental Mutation

Incidental Mutation 'R1675:Tprn'

187970

Institutional Source

Beutler Lab

Gene Symbol

Tprn

Ensembl Gene

ENSMUSG00000048707

Gene Name

taperin

Synonyms

C430004E15Rik

MMRRC Submission

039711-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1675 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25152630-25159897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 25154421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 574 (D574E)

Ref Sequence

ENSEMBL: ENSMUSP00000109975 (fasta)

Gene Model

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

AlphaFold

A2AI08

Predicted Effect

probably benign
Transcript: ENSMUST00000114336
AA Change: D574E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109975
Gene: ENSMUSG00000048707
AA Change: D574E

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.5%
20x: 93.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,302,570 (GRCm39)		probably null	Het
Adam6b	T	C	12: 113,454,664 (GRCm39)	Y494H	probably benign	Het
Adamtsl2	GC	G	2: 26,972,497 (GRCm39)		probably null	Het
Anapc2	G	A	2: 25,162,651 (GRCm39)	V42M	possibly damaging	Het
Aph1a	T	A	3: 95,802,211 (GRCm39)	D64E	possibly damaging	Het
Arhgef11	C	T	3: 87,638,518 (GRCm39)	A1111V	possibly damaging	Het
Atoh1	T	C	6: 64,707,141 (GRCm39)	S279P	probably benign	Het
Atp10b	A	G	11: 43,116,475 (GRCm39)	T941A	probably damaging	Het
Barhl1	C	T	2: 28,805,423 (GRCm39)	R90Q	possibly damaging	Het
Calr3	T	C	8: 73,185,302 (GRCm39)	D91G	probably damaging	Het
Ccdc148	T	C	2: 58,870,566 (GRCm39)	D317G	probably damaging	Het
Cnn3	C	T	3: 121,250,818 (GRCm39)	Q19*	probably null	Het
Cul5	T	C	9: 53,557,983 (GRCm39)	D207G	probably benign	Het
Cyp4x1	T	C	4: 114,984,757 (GRCm39)	E41G	possibly damaging	Het
Dagla	T	A	19: 10,246,687 (GRCm39)	M138L	probably benign	Het
Dnah6	A	T	6: 73,106,523 (GRCm39)	M1738K	probably damaging	Het
Eif4enif1	T	A	11: 3,165,686 (GRCm39)	S88T	probably benign	Het
Eno3	T	C	11: 70,549,492 (GRCm39)		probably null	Het
Erbb3	C	A	10: 128,407,073 (GRCm39)	S1029I	probably damaging	Het
Erbin	C	A	13: 103,977,686 (GRCm39)	V624L	probably damaging	Het
Fam170b	C	T	14: 32,557,359 (GRCm39)	Q65*	probably null	Het
Gin1	T	A	1: 97,713,780 (GRCm39)	L360*	probably null	Het
Gldc	A	T	19: 30,120,853 (GRCm39)	D359E	probably damaging	Het
Gpr107	A	T	2: 31,057,063 (GRCm39)	T52S	possibly damaging	Het
Hip1r	A	G	5: 124,132,883 (GRCm39)	Y227C	probably damaging	Het
Hmgxb3	A	G	18: 61,268,631 (GRCm39)	L1004P	probably damaging	Het
Hspa1l	A	G	17: 35,196,419 (GRCm39)	N153D	probably damaging	Het
Itga8	C	A	2: 12,204,974 (GRCm39)	V488L	probably damaging	Het
Kcnk10	G	A	12: 98,462,547 (GRCm39)	A134V	probably benign	Het
Kif18a	T	A	2: 109,128,748 (GRCm39)	C406S	probably benign	Het
Klhl28	A	T	12: 64,998,593 (GRCm39)	S300R	probably damaging	Het
Kmt2e	C	T	5: 23,687,451 (GRCm39)	Q434*	probably null	Het
Lilrb4a	A	G	10: 51,372,281 (GRCm39)	T222A	probably benign	Het
Lipn	G	A	19: 34,058,110 (GRCm39)	R277Q	probably damaging	Het
Lrrc61	G	A	6: 48,545,708 (GRCm39)	R177Q	possibly damaging	Het
Lrrc74a	G	A	12: 86,787,800 (GRCm39)	E144K	probably damaging	Het
Mal	T	C	2: 127,476,964 (GRCm39)	Y77C	probably benign	Het
Map1a	T	A	2: 121,133,136 (GRCm39)	C1079*	probably null	Het
Mbd5	T	A	2: 49,146,230 (GRCm39)	S147T	possibly damaging	Het
Nsd2	T	A	5: 34,018,493 (GRCm39)	M509K	probably benign	Het
Or13p4	C	T	4: 118,547,145 (GRCm39)	R168H	probably benign	Het
Or1ad8	T	C	11: 50,898,464 (GRCm39)	F222L	probably benign	Het
Or5an1c	C	T	19: 12,218,195 (GRCm39)	V277I	probably benign	Het
Or6p1	T	C	1: 174,258,663 (GRCm39)	V223A	probably benign	Het
Rcor2	C	T	19: 7,247,546 (GRCm39)	L45F	probably damaging	Het
Rpl12	T	A	2: 32,853,537 (GRCm39)	D107E	probably benign	Het
Rpl7l1	A	T	17: 47,089,117 (GRCm39)	F205I	probably damaging	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Sema4a	A	T	3: 88,362,073 (GRCm39)	F18I	possibly damaging	Het
Slc37a1	A	T	17: 31,557,048 (GRCm39)	T405S	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Syt14	T	C	1: 192,579,790 (GRCm39)	D781G	probably damaging	Het
Tasor2	T	C	13: 3,619,507 (GRCm39)	I2241M	possibly damaging	Het
Trim75	T	A	8: 65,435,163 (GRCm39)	E429V	probably damaging	Het
Trit1	C	T	4: 122,948,029 (GRCm39)	R450C	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Unc13c	A	G	9: 73,546,332 (GRCm39)		probably null	Het
Usp49	C	A	17: 47,984,335 (GRCm39)	L447I	probably damaging	Het
Vmn1r20	T	C	6: 57,408,937 (GRCm39)	C88R	probably benign	Het
Zfp94	T	A	7: 24,002,259 (GRCm39)	K394N	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
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'- CCAGGACTTCCAGTCACCTTCATTG -3'
(R):5'- TTACGGAGAAGACCTCCATGCCAG -3'

Sequencing Primer
(F):5'- GGCCTTTCAAGAAGCCAAACTG -3'
(R):5'- ATGCCAGCAGCCCTCTC -3'

Posted On

2014-05-09