Mutagenetix > Incidental Mutation

Incidental Mutation 'R4494:Tprn'

330863

Institutional Source

Beutler Lab

Gene Symbol

Tprn

Ensembl Gene

ENSMUSG00000048707

Gene Name

taperin

Synonyms

C430004E15Rik

MMRRC Submission

041582-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4494 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25152630-25159897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25158904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 643 (S643P)

Ref Sequence

ENSEMBL: ENSMUSP00000109975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028341] [ENSMUST00000028342] [ENSMUST00000114336] [ENSMUST00000129300]

AlphaFold

A2AI08

Predicted Effect

probably benign
Transcript: ENSMUST00000028341

SMART Domains

Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	123	133	N/A	INTRINSIC
low complexity region	153	164	N/A	INTRINSIC
low complexity region	221	229	N/A	INTRINSIC
low complexity region	456	467	N/A	INTRINSIC
CULLIN	515	663	6.72e-9	SMART
APC2	772	832	3.67e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000028342

SMART Domains

Protein: ENSMUSP00000028342
Gene: ENSMUSG00000026966

Domain	Start	End	E-Value	Type
coiled coil region	13	70	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114336
AA Change: S643P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109975
Gene: ENSMUSG00000048707
AA Change: S643P

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: ENSMUST00000127176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129265

Predicted Effect

probably benign
Transcript: ENSMUST00000129300

SMART Domains

Protein: ENSMUSP00000115177
Gene: ENSMUSG00000026965

Domain	Start	End	E-Value	Type
low complexity region	170	181	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137361

Meta Mutation Damage Score

0.1055

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf7ip	T	A	6: 136,540,747 (GRCm39)		probably null	Het
Cacna1b	T	C	2: 24,542,950 (GRCm39)	T1301A	probably damaging	Het
Calcr	A	T	6: 3,708,484 (GRCm39)		probably null	Het
Camsap1	T	C	2: 25,842,770 (GRCm39)	D262G	probably damaging	Het
Ccdc141	A	G	2: 76,962,641 (GRCm39)	V101A	probably damaging	Het
Ccdc170	T	C	10: 4,464,128 (GRCm39)	Y36H	probably damaging	Het
Cd177	A	T	7: 24,451,428 (GRCm39)	S492T	probably benign	Het
Chrna4	T	A	2: 180,670,281 (GRCm39)	I492F	probably damaging	Het
Cit	T	C	5: 116,012,043 (GRCm39)	Y217H	probably damaging	Het
Cnbd1	T	A	4: 19,098,150 (GRCm39)	D90V	probably benign	Het
Cryba2	A	G	1: 74,929,789 (GRCm39)	F116S	probably damaging	Het
Ctbp1	T	C	5: 33,408,213 (GRCm39)	T240A	possibly damaging	Het
D130043K22Rik	C	T	13: 25,055,339 (GRCm39)	S501L	probably benign	Het
Ddhd2	A	G	8: 26,228,261 (GRCm39)	F553S	probably benign	Het
Ddr2	C	A	1: 169,815,983 (GRCm39)	G575W	probably damaging	Het
Dip2c	T	C	13: 9,621,098 (GRCm39)	V537A	possibly damaging	Het
Dnah12	C	T	14: 26,593,812 (GRCm39)	A752V	probably damaging	Het
Dnah7a	T	C	1: 53,488,197 (GRCm39)	D3260G	probably benign	Het
Efemp2	T	A	19: 5,530,339 (GRCm39)	C309S	probably damaging	Het
Gse1	G	A	8: 121,297,553 (GRCm39)		probably benign	Het
Hspa4l	T	C	3: 40,707,636 (GRCm39)	S53P	possibly damaging	Het
Ighv5-4	T	C	12: 113,561,204 (GRCm39)	D72G	probably benign	Het
Igkv15-103	A	G	6: 68,414,780 (GRCm39)	N73S	probably benign	Het
Igsf11	T	G	16: 38,831,703 (GRCm39)	N183K	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnk18	T	C	19: 59,223,263 (GRCm39)	V136A	probably damaging	Het
Krt75	A	T	15: 101,480,136 (GRCm39)	Y240*	probably null	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Man2a2	C	T	7: 80,009,023 (GRCm39)		probably null	Het
Mme	A	G	3: 63,254,613 (GRCm39)	N491S	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msi2	T	C	11: 88,608,185 (GRCm39)	D39G	possibly damaging	Het
Naa60	T	A	16: 3,718,585 (GRCm39)	C122*	probably null	Het
Nes	A	G	3: 87,884,120 (GRCm39)	E793G	probably damaging	Het
Nfkb2	A	G	19: 46,296,878 (GRCm39)	D316G	probably damaging	Het
Nme6	C	T	9: 109,671,122 (GRCm39)	L121F	probably damaging	Het
Or4k47	T	A	2: 111,451,493 (GRCm39)	K309*	probably null	Het
Otud1	C	T	2: 19,664,146 (GRCm39)	T425I	probably damaging	Het
Pimreg	T	C	11: 71,935,964 (GRCm39)	V149A	probably benign	Het
Plbd1	T	C	6: 136,590,856 (GRCm39)	I437V	probably damaging	Het
Prlhr	A	T	19: 60,455,519 (GRCm39)	M349K	probably benign	Het
Slc1a3	G	A	15: 8,668,579 (GRCm39)	T462I	probably damaging	Het
Slc25a26	A	G	6: 94,575,384 (GRCm39)	T198A	probably damaging	Het
Stkld1	A	G	2: 26,836,638 (GRCm39)	N268S	probably benign	Het
Svop	T	C	5: 114,183,688 (GRCm39)	T195A	probably damaging	Het
Syt6	A	G	3: 103,492,946 (GRCm39)	E66G	probably damaging	Het
Tas2r129	A	G	6: 132,928,317 (GRCm39)	I85V	probably benign	Het
Tent5a	A	G	9: 85,207,100 (GRCm39)	S233P	probably damaging	Het
Ush2a	C	T	1: 188,285,473 (GRCm39)	T2003I	possibly damaging	Het
Vmn2r17	T	A	5: 109,576,335 (GRCm39)	V402E	probably damaging	Het
Vmn2r3	C	G	3: 64,182,692 (GRCm39)	G336R	probably damaging	Het
Wdr89	A	T	12: 75,679,521 (GRCm39)	D244E	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
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'- GCAGCTACAGGTATAGGGTG -3'
(R):5'- GATACCTGCAAGTGTGGTCC -3'

Sequencing Primer
(F):5'- CTACAGGTATAGGGTGGGATAGGTG -3'
(R):5'- TGCAAGTGTGGTCCACATC -3'

Posted On

2015-07-21