Incidental Mutation 'R3685:Prr16'
| ID |
269513 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3685 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
51250970-51437713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 51435892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 124
(P124T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116639]
|
| AlphaFold |
A3KMN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116639
AA Change: P124T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112338
Gene: ENSMUSG00000073565
AA Change: P124T
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
| Atp13a5 |
G |
C |
16: 29,135,573 (GRCm39) |
L340V |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,775,223 (GRCm39) |
M343T |
possibly damaging |
Het |
| Dmrtc2 |
T |
C |
7: 24,573,687 (GRCm39) |
V174A |
probably benign |
Het |
| Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
| Gm9637 |
A |
G |
14: 19,401,950 (GRCm38) |
|
noncoding transcript |
Het |
| Gpbp1 |
T |
C |
13: 111,603,405 (GRCm39) |
T15A |
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Klhl40 |
A |
G |
9: 121,611,724 (GRCm39) |
E579G |
probably damaging |
Het |
| Or4a73 |
C |
A |
2: 89,421,099 (GRCm39) |
R120L |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,975,364 (GRCm39) |
M1K |
probably null |
Het |
| Or5d37 |
T |
A |
2: 87,923,603 (GRCm39) |
I226F |
probably damaging |
Het |
| Ribc2 |
A |
G |
15: 85,019,535 (GRCm39) |
T106A |
possibly damaging |
Het |
| Slc37a1 |
C |
A |
17: 31,544,667 (GRCm39) |
T253N |
probably benign |
Het |
| Smpd1 |
T |
A |
7: 105,204,609 (GRCm39) |
C163S |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,226,800 (GRCm39) |
S1162G |
probably benign |
Het |
| Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,909,333 (GRCm39) |
|
probably null |
Het |
| Zfand6 |
G |
A |
7: 84,283,570 (GRCm39) |
P11S |
probably damaging |
Het |
|
| Other mutations in Prr16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00225:Prr16
|
APN |
18 |
51,436,192 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATTGACACCCTGACCTC -3'
(R):5'- TGTGCATCAGAGACTGCAAC -3'
Sequencing Primer
(F):5'- CCTCTGATCTACAGCTGGAAGATG -3'
(R):5'- ACGGAGCCTTGTCCAAGTTACTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation