Incidental Mutation 'R4493:Tprn'
ID |
330815 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tprn
|
Ensembl Gene |
ENSMUSG00000048707 |
Gene Name |
taperin |
Synonyms |
C430004E15Rik |
MMRRC Submission |
041748-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4493 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
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: ENSMUST00000141509
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133697
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155738
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137361
|
Meta Mutation Damage Score |
0.1055 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
94% (45/48) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna1b |
T |
C |
2: 24,542,950 (GRCm39) |
T1301A |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,962,641 (GRCm39) |
V101A |
probably damaging |
Het |
Ccdc146 |
T |
C |
5: 21,508,191 (GRCm39) |
E619G |
possibly damaging |
Het |
Cfap91 |
T |
C |
16: 38,162,130 (GRCm39) |
T4A |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,230,573 (GRCm39) |
E1505G |
probably benign |
Het |
Cngb3 |
C |
A |
4: 19,367,778 (GRCm39) |
P229Q |
probably damaging |
Het |
Ctnna2 |
A |
G |
6: 76,958,831 (GRCm39) |
V461A |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,086,684 (GRCm39) |
D764G |
probably benign |
Het |
Dgki |
T |
C |
6: 36,951,796 (GRCm39) |
|
probably benign |
Het |
Dhx36 |
A |
T |
3: 62,395,925 (GRCm39) |
|
probably benign |
Het |
Gcn1 |
T |
C |
5: 115,732,203 (GRCm39) |
I1006T |
probably benign |
Het |
Glt8d2 |
T |
A |
10: 82,500,547 (GRCm39) |
M20L |
possibly damaging |
Het |
Greb1 |
C |
A |
12: 16,748,611 (GRCm39) |
G1122V |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,577,650 (GRCm39) |
I2037N |
probably damaging |
Het |
Hspa4l |
A |
G |
3: 40,722,434 (GRCm39) |
I340V |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,323,586 (GRCm39) |
K1204E |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
Mcph1 |
T |
A |
8: 18,681,752 (GRCm39) |
C296* |
probably null |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Naga |
A |
G |
15: 82,216,715 (GRCm39) |
F259S |
probably damaging |
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 |
Pcdha4 |
A |
T |
18: 37,087,644 (GRCm39) |
Y609F |
possibly damaging |
Het |
Pgam1 |
C |
T |
19: 41,904,215 (GRCm39) |
A104V |
possibly damaging |
Het |
Piezo2 |
T |
C |
18: 63,247,134 (GRCm39) |
I525V |
probably damaging |
Het |
Pold1 |
A |
G |
7: 44,187,132 (GRCm39) |
V683A |
probably damaging |
Het |
Poteg |
T |
C |
8: 27,970,125 (GRCm39) |
V316A |
possibly damaging |
Het |
Ppih |
A |
T |
4: 119,168,042 (GRCm39) |
N156K |
probably damaging |
Het |
Prep |
T |
C |
10: 44,996,915 (GRCm39) |
F398L |
probably benign |
Het |
Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
Rtp4 |
A |
T |
16: 23,428,827 (GRCm39) |
H30L |
probably benign |
Het |
Stkld1 |
A |
G |
2: 26,836,638 (GRCm39) |
N268S |
probably benign |
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 |
Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
Trrap |
T |
C |
5: 144,767,858 (GRCm39) |
V2605A |
probably benign |
Het |
Vmn1r230 |
T |
A |
17: 21,066,863 (GRCm39) |
N17K |
probably benign |
Het |
Xkrx |
T |
C |
X: 133,051,745 (GRCm39) |
N302S |
possibly damaging |
Het |
Zfp946 |
T |
A |
17: 22,670,067 (GRCm39) |
|
probably null |
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 |
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'- GCAGCTACAGGTATAGGGTG -3'
(R):5'- GATACCTGCAAGTGTGGTCC -3'
Sequencing Primer
(F):5'- CTACAGGTATAGGGTGGGATAGGTG -3'
(R):5'- TGCAAGTGTGGTCCACATC -3'
|
Posted On |
2015-07-21 |