Mutagenetix > Incidental Mutation

Incidental Mutation 'R9171:Tprn'

696384

Institutional Source

Beutler Lab

Gene Symbol

Tprn

Ensembl Gene

ENSMUSG00000048707

Gene Name

taperin

Synonyms

C430004E15Rik

MMRRC Submission

068976-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9171 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

25152630-25159897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25152799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 34 (S34G)

Ref Sequence

ENSEMBL: ENSMUSP00000109975 (fasta)

Gene Model

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

AlphaFold

A2AI08

Predicted Effect

probably benign
Transcript: ENSMUST00000114336
AA Change: S34G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109975
Gene: ENSMUSG00000048707
AA Change: S34G

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (58/59)

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
Abra	T	A	15: 41,732,512 (GRCm39)	T185S	possibly damaging	Het
Acad10	T	A	5: 121,767,981 (GRCm39)	H823L	probably benign	Het
Acly	A	G	11: 100,407,657 (GRCm39)	V231A	probably benign	Het
Adamts9	T	C	6: 92,849,381 (GRCm39)	N1026S	probably benign	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Ankrd65	A	G	4: 155,875,800 (GRCm39)	E7G	probably benign	Het
Ap1g2	T	C	14: 55,336,581 (GRCm39)	H771R	probably benign	Het
Atp9a	A	G	2: 168,485,780 (GRCm39)		probably null	Het
Atxn10	T	G	15: 85,277,557 (GRCm39)	H341Q	probably damaging	Het
Cacng1	A	G	11: 107,607,060 (GRCm39)	L53P	probably damaging	Het
Cdh23	T	C	10: 60,161,810 (GRCm39)	N2014S	probably benign	Het
Cma1	T	C	14: 56,181,189 (GRCm39)	N72S	probably benign	Het
Col7a1	G	A	9: 108,807,953 (GRCm39)	G2551D	unknown	Het
Cyp20a1	T	G	1: 60,415,343 (GRCm39)	L323R	probably damaging	Het
Dnah11	A	T	12: 117,894,918 (GRCm39)	V3643E	probably damaging	Het
Dnmt3l	A	C	10: 77,895,518 (GRCm39)	D352A	probably benign	Het
Dock2	A	T	11: 34,589,670 (GRCm39)	N462K	probably benign	Het
Drc1	A	G	5: 30,513,794 (GRCm39)	Q450R	probably benign	Het
Drgx	C	T	14: 32,330,339 (GRCm39)	S152F	probably damaging	Het
Efcab3	A	G	11: 104,800,708 (GRCm39)	T2977A	probably benign	Het
Eid3	C	T	10: 82,703,316 (GRCm39)	T259M	probably damaging	Het
Eif2ak3	T	G	6: 70,835,419 (GRCm39)	D115E	probably damaging	Het
Ezh2	A	C	6: 47,531,134 (GRCm39)	D183E	probably benign	Het
Fam114a1	A	C	5: 65,191,713 (GRCm39)		probably null	Het
Fcho2	G	A	13: 98,891,607 (GRCm39)	T385I	probably benign	Het
Gm6882	C	A	7: 21,161,254 (GRCm39)	E205*	probably null	Het
Hexim2	G	A	11: 103,029,822 (GRCm39)	W291*	probably null	Het
Hnrnpab	A	C	11: 51,492,710 (GRCm39)	S265R	unknown	Het
Hsd17b1	A	G	11: 100,969,832 (GRCm39)	N115D	probably damaging	Het
Ighmbp2	T	C	19: 3,315,641 (GRCm39)	D593G	possibly damaging	Het
Inf2	C	A	12: 112,567,965 (GRCm39)	C172*	probably null	Het
Invs	A	T	4: 48,398,149 (GRCm39)	N445I	possibly damaging	Het
Izumo2	A	G	7: 44,369,184 (GRCm39)	Q186R	probably benign	Het
Kcnj15	T	C	16: 95,097,481 (GRCm39)	F368L	probably benign	Het
Kctd20	A	G	17: 29,185,866 (GRCm39)	D403G	probably damaging	Het
Kmt2c	A	C	5: 25,486,309 (GRCm39)	V4748G	probably damaging	Het
Lrrc37a	A	G	11: 103,393,140 (GRCm39)	S762P	probably benign	Het
Man2c1	C	T	9: 57,044,317 (GRCm39)	Q324*	probably null	Het
Mgam	A	G	6: 40,745,146 (GRCm39)	I1804M	possibly damaging	Het
Mmp28	A	G	11: 83,335,661 (GRCm39)	V279A	probably benign	Het
Mrpl22	T	C	11: 58,070,185 (GRCm39)	V164A	possibly damaging	Het
Obscn	A	T	11: 58,952,329 (GRCm39)	H3913Q	possibly damaging	Het
Or6e1	T	C	14: 54,520,329 (GRCm39)	T8A	probably benign	Het
Or8g50	C	T	9: 39,648,516 (GRCm39)	T135I	probably benign	Het
Paqr6	A	G	3: 88,273,066 (GRCm39)	T46A	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Piezo2	T	C	18: 63,178,550 (GRCm39)	D1789G	probably benign	Het
Pou4f2	T	C	8: 79,162,748 (GRCm39)	T96A	probably benign	Het
Ppp1r12b	A	T	1: 134,801,725 (GRCm39)	V497E	probably benign	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Rsph4a	C	T	10: 33,785,438 (GRCm39)	Q450*	probably null	Het
Sh3d19	C	T	3: 85,990,918 (GRCm39)		probably benign	Het
Slc39a14	T	C	14: 70,547,687 (GRCm39)	T259A	probably benign	Het
Snap91	T	C	9: 86,680,672 (GRCm39)	T404A	probably benign	Het
Sptbn4	A	T	7: 27,141,844 (GRCm39)	C50S	possibly damaging	Het
Stx8	A	C	11: 67,875,471 (GRCm39)	N99H	possibly damaging	Het
Tgfbi	A	T	13: 56,773,526 (GRCm39)	M175L	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Tle1	A	T	4: 72,043,232 (GRCm39)	C536S	possibly damaging	Het
Vmn1r80	A	T	7: 11,927,124 (GRCm39)	D78V	possibly 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
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
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'- TTGCCCAATTGGAGGCTACC -3'
(R):5'- ATGTTGTCCGCTCGAATGG -3'

Sequencing Primer
(F):5'- TTGGAGGCTACCAAGGGG -3'
(R):5'- TCGAATGGTCCGCACGC -3'

Posted On

2022-02-07