Incidental Mutation 'R4257:Tprn'
| ID |
321846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tprn
|
| Ensembl Gene |
ENSMUSG00000048707 |
| Gene Name |
taperin |
| Synonyms |
C430004E15Rik |
| MMRRC Submission |
041070-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4257 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25152630-25159897 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25154494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 599
(I599V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109975
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114336]
|
| AlphaFold |
A2AI08 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114336
AA Change: I599V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109975
Gene: ENSMUSG00000048707
AA Change: I599V
| 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
|
| Meta Mutation Damage Score |
0.7153 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
C |
T |
7: 126,430,662 (GRCm39) |
|
probably benign |
Het |
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,261,033 (GRCm39) |
I1219K |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,771 (GRCm39) |
|
probably benign |
Het |
| Arhgap24 |
A |
G |
5: 102,811,983 (GRCm39) |
E70G |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Babam2 |
T |
C |
5: 31,859,414 (GRCm39) |
S40P |
possibly damaging |
Het |
| Brwd1 |
A |
G |
16: 95,824,696 (GRCm39) |
V1190A |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,909 (GRCm39) |
E508G |
probably damaging |
Het |
| Ckm |
T |
C |
7: 19,155,279 (GRCm39) |
S372P |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,283,907 (GRCm39) |
|
probably null |
Het |
| Farp1 |
G |
A |
14: 121,492,891 (GRCm39) |
V498M |
probably benign |
Het |
| Galnt14 |
T |
A |
17: 73,811,899 (GRCm39) |
I441F |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,533,107 (GRCm39) |
L440P |
probably damaging |
Het |
| Gm6563 |
A |
G |
19: 23,653,339 (GRCm39) |
E43G |
possibly damaging |
Het |
| Gm9755 |
A |
T |
8: 67,967,129 (GRCm39) |
|
noncoding transcript |
Het |
| Gmds |
A |
G |
13: 32,004,172 (GRCm39) |
S337P |
possibly damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,156,020 (GRCm39) |
Q754L |
unknown |
Het |
| Ltk |
G |
A |
2: 119,583,485 (GRCm39) |
T300I |
possibly damaging |
Het |
| Or5d46 |
A |
C |
2: 88,170,621 (GRCm39) |
K237N |
probably damaging |
Het |
| Pbx2 |
C |
A |
17: 34,813,619 (GRCm39) |
H184Q |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,327,083 (GRCm39) |
F339S |
probably damaging |
Het |
| Prkaa2 |
A |
T |
4: 104,897,153 (GRCm39) |
D353E |
probably benign |
Het |
| Prss36 |
G |
A |
7: 127,532,010 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,851,324 (GRCm39) |
V874A |
probably damaging |
Het |
| Rspo2 |
C |
A |
15: 42,939,307 (GRCm39) |
R161L |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,781,875 (GRCm39) |
D2038G |
possibly damaging |
Het |
| Stkld1 |
A |
G |
2: 26,833,146 (GRCm39) |
M111V |
probably benign |
Het |
| Upp2 |
A |
T |
2: 58,670,106 (GRCm39) |
I219F |
probably damaging |
Het |
| Vmn2r94 |
A |
T |
17: 18,464,433 (GRCm39) |
F619Y |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,383 (GRCm39) |
T2875A |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,768,298 (GRCm39) |
L438P |
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 |
|
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'- TCCTGAACCGAGGTAGCAAC -3'
(R):5'- TGAAGTAAACAGTAGGCTGACC -3'
Sequencing Primer
(F):5'- GGTAGCAACACTTTCACAGTAGTGC -3'
(R):5'- GGGCTGTCACAGTTCACAGAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation