Incidental Mutation 'IGL00225:Prr16'
| ID |
2061 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prr16
|
| Ensembl Gene |
ENSMUSG00000073565 |
| Gene Name |
proline rich 16 |
| Synonyms |
5430406M13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL00225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
51250970-51437713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51436192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 224
(Y224N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116639]
|
| AlphaFold |
A3KMN5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000116639
AA Change: Y224N
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112338
Gene: ENSMUSG00000073565
AA Change: Y224N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
Pfam:DUF4589
|
53 |
304 |
4.4e-80 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Flii |
T |
C |
11: 60,614,241 (GRCm39) |
N93D |
probably benign |
Het |
| Gm8356 |
T |
C |
14: 17,693,287 (GRCm39) |
K24E |
probably damaging |
Het |
| Hars1 |
G |
A |
18: 36,901,225 (GRCm39) |
T409M |
probably damaging |
Het |
| Ivns1abp |
A |
G |
1: 151,226,863 (GRCm39) |
|
probably null |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kdm4c |
T |
G |
4: 74,263,804 (GRCm39) |
V696G |
probably benign |
Het |
| Klrb1f |
T |
A |
6: 129,030,138 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,325,371 (GRCm39) |
V1399I |
probably benign |
Het |
| LTO1 |
G |
A |
7: 144,471,405 (GRCm39) |
G86D |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,291,849 (GRCm39) |
V3168A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,286,731 (GRCm39) |
I177K |
probably damaging |
Het |
| Nnt |
A |
T |
13: 119,506,533 (GRCm39) |
N371K |
probably damaging |
Het |
| Or13a27 |
A |
G |
7: 139,925,123 (GRCm39) |
Y260H |
probably damaging |
Het |
| Or5p52 |
C |
T |
7: 107,502,311 (GRCm39) |
P129L |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,627,508 (GRCm39) |
V3389L |
possibly damaging |
Het |
| Ptgs1 |
G |
A |
2: 36,127,231 (GRCm39) |
C39Y |
probably damaging |
Het |
| Sla |
T |
C |
15: 66,654,479 (GRCm39) |
D269G |
possibly damaging |
Het |
| Stk38l |
T |
A |
6: 146,659,971 (GRCm39) |
M1K |
probably null |
Het |
| Trim24 |
T |
A |
6: 37,880,583 (GRCm39) |
N160K |
possibly damaging |
Het |
| Zfp451 |
A |
G |
1: 33,825,621 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Prr16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00951:Prr16
|
APN |
18 |
51,436,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01744:Prr16
|
APN |
18 |
51,436,061 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02345:Prr16
|
APN |
18 |
51,436,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02833:Prr16
|
APN |
18 |
51,436,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
LCD18:Prr16
|
UTSW |
18 |
51,333,396 (GRCm39) |
intron |
probably benign |
|
|
R1195:Prr16
|
UTSW |
18 |
51,435,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Prr16
|
UTSW |
18 |
51,435,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Prr16
|
UTSW |
18 |
51,435,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Prr16
|
UTSW |
18 |
51,436,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1988:Prr16
|
UTSW |
18 |
51,436,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3436:Prr16
|
UTSW |
18 |
51,436,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3685:Prr16
|
UTSW |
18 |
51,435,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4609:Prr16
|
UTSW |
18 |
51,251,139 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4626:Prr16
|
UTSW |
18 |
51,435,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5443:Prr16
|
UTSW |
18 |
51,436,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5713:Prr16
|
UTSW |
18 |
51,435,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Prr16
|
UTSW |
18 |
51,436,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9619:Prr16
|
UTSW |
18 |
51,435,797 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1176:Prr16
|
UTSW |
18 |
51,436,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2011-12-09 |
Incidental Mutation