Incidental Mutation 'IGL02321:Pramel32'
| ID |
288244 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel32
|
| Ensembl Gene |
ENSMUSG00000038330 |
| Gene Name |
PRAME like 32 |
| Synonyms |
C87499 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
IGL02321
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
88545557-88552423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88548340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 22
(S22P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053304]
[ENSMUST00000107142]
[ENSMUST00000107143]
[ENSMUST00000134155]
[ENSMUST00000156062]
|
| AlphaFold |
Q3UX49 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053304
AA Change: S22P
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: S22P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
223 |
425 |
4e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107142
AA Change: S22P
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107143
AA Change: S22P
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134155
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156062
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
C |
T |
8: 123,506,853 (GRCm39) |
R49C |
possibly damaging |
Het |
| Alg2 |
T |
C |
4: 47,474,249 (GRCm39) |
Y13C |
probably benign |
Het |
| Apoa4 |
A |
G |
9: 46,154,218 (GRCm39) |
D273G |
probably damaging |
Het |
| Axl |
C |
T |
7: 25,458,194 (GRCm39) |
V854I |
probably damaging |
Het |
| Bicral |
A |
G |
17: 47,122,873 (GRCm39) |
S673P |
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,902,190 (GRCm39) |
S40P |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,871,107 (GRCm39) |
|
probably benign |
Het |
| Ccdc87 |
A |
G |
19: 4,891,059 (GRCm39) |
E517G |
probably damaging |
Het |
| Cd22 |
A |
G |
7: 30,569,308 (GRCm39) |
S603P |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,804,291 (GRCm39) |
C21S |
probably damaging |
Het |
| Chml |
G |
A |
1: 175,519,900 (GRCm39) |
P68L |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,246,056 (GRCm39) |
E1476G |
probably benign |
Het |
| Cstdc6 |
A |
G |
16: 36,143,388 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,033,139 (GRCm39) |
V41A |
probably damaging |
Het |
| Gm4781 |
T |
A |
10: 100,232,752 (GRCm39) |
|
noncoding transcript |
Het |
| Hip1r |
A |
T |
5: 124,137,953 (GRCm39) |
I760F |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,614 (GRCm39) |
L476P |
probably benign |
Het |
| Isyna1 |
A |
G |
8: 71,048,920 (GRCm39) |
N333S |
probably damaging |
Het |
| Kcnmb1 |
A |
T |
11: 33,920,091 (GRCm39) |
|
probably benign |
Het |
| Mark4 |
T |
C |
7: 19,160,314 (GRCm39) |
T649A |
probably benign |
Het |
| Mgat1 |
T |
C |
11: 49,152,536 (GRCm39) |
F340L |
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
| Mmaa |
T |
G |
8: 80,000,759 (GRCm39) |
Y233S |
probably damaging |
Het |
| Ntsr1 |
G |
T |
2: 180,180,627 (GRCm39) |
|
probably null |
Het |
| Or2o1 |
T |
G |
11: 49,051,602 (GRCm39) |
Y254D |
probably damaging |
Het |
| Orm2 |
T |
C |
4: 63,281,229 (GRCm39) |
Y56H |
probably damaging |
Het |
| Pex26 |
C |
T |
6: 121,170,468 (GRCm39) |
|
probably benign |
Het |
| Pik3r4 |
C |
T |
9: 105,521,677 (GRCm39) |
A81V |
probably benign |
Het |
| Prr14l |
G |
T |
5: 32,985,151 (GRCm39) |
T1448K |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,254,736 (GRCm39) |
Y799* |
probably null |
Het |
| Ryr1 |
A |
C |
7: 28,778,121 (GRCm39) |
L2132R |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,421,325 (GRCm39) |
|
probably null |
Het |
| Sirt5 |
C |
T |
13: 43,533,164 (GRCm39) |
T164I |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,376,977 (GRCm39) |
V429A |
probably benign |
Het |
| Spen |
T |
C |
4: 141,244,441 (GRCm39) |
D198G |
unknown |
Het |
| Syne2 |
A |
G |
12: 75,965,773 (GRCm39) |
N832D |
possibly damaging |
Het |
| Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
| Vmn1r191 |
T |
A |
13: 22,363,068 (GRCm39) |
R229* |
probably null |
Het |
| Vps53 |
C |
T |
11: 75,939,364 (GRCm39) |
D680N |
possibly damaging |
Het |
| Wbp1l |
G |
T |
19: 46,642,749 (GRCm39) |
G234V |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,070,475 (GRCm39) |
S1098T |
probably damaging |
Het |
| Yod1 |
T |
A |
1: 130,646,688 (GRCm39) |
D188E |
probably damaging |
Het |
| Zbtb25 |
T |
C |
12: 76,396,907 (GRCm39) |
D105G |
probably damaging |
Het |
|
| Other mutations in Pramel32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Pramel32
|
APN |
4 |
88,547,307 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL00229:Pramel32
|
APN |
4 |
88,547,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01938:Pramel32
|
APN |
4 |
88,547,600 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02351:Pramel32
|
APN |
4 |
88,546,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02358:Pramel32
|
APN |
4 |
88,546,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0005:Pramel32
|
UTSW |
4 |
88,546,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Pramel32
|
UTSW |
4 |
88,547,559 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0578:Pramel32
|
UTSW |
4 |
88,552,376 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0600:Pramel32
|
UTSW |
4 |
88,547,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0750:Pramel32
|
UTSW |
4 |
88,545,905 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1483:Pramel32
|
UTSW |
4 |
88,547,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Pramel32
|
UTSW |
4 |
88,546,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1911:Pramel32
|
UTSW |
4 |
88,548,309 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2204:Pramel32
|
UTSW |
4 |
88,546,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2507:Pramel32
|
UTSW |
4 |
88,547,448 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2512:Pramel32
|
UTSW |
4 |
88,547,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4299:Pramel32
|
UTSW |
4 |
88,546,419 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4498:Pramel32
|
UTSW |
4 |
88,547,129 (GRCm39) |
splice site |
probably null |
|
|
R4656:Pramel32
|
UTSW |
4 |
88,548,202 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4787:Pramel32
|
UTSW |
4 |
88,547,450 (GRCm39) |
nonsense |
probably null |
|
|
R4823:Pramel32
|
UTSW |
4 |
88,547,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Pramel32
|
UTSW |
4 |
88,546,219 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4948:Pramel32
|
UTSW |
4 |
88,547,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Pramel32
|
UTSW |
4 |
88,547,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5229:Pramel32
|
UTSW |
4 |
88,548,372 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5426:Pramel32
|
UTSW |
4 |
88,547,647 (GRCm39) |
intron |
probably benign |
|
|
R5520:Pramel32
|
UTSW |
4 |
88,548,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5574:Pramel32
|
UTSW |
4 |
88,546,280 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5596:Pramel32
|
UTSW |
4 |
88,548,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6282:Pramel32
|
UTSW |
4 |
88,548,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6366:Pramel32
|
UTSW |
4 |
88,547,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6808:Pramel32
|
UTSW |
4 |
88,548,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6866:Pramel32
|
UTSW |
4 |
88,545,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7105:Pramel32
|
UTSW |
4 |
88,548,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7117:Pramel32
|
UTSW |
4 |
88,547,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7319:Pramel32
|
UTSW |
4 |
88,548,184 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7345:Pramel32
|
UTSW |
4 |
88,546,416 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7399:Pramel32
|
UTSW |
4 |
88,546,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7626:Pramel32
|
UTSW |
4 |
88,548,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Pramel32
|
UTSW |
4 |
88,547,356 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8044:Pramel32
|
UTSW |
4 |
88,548,212 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8849:Pramel32
|
UTSW |
4 |
88,546,014 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9334:Pramel32
|
UTSW |
4 |
88,548,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9515:Pramel32
|
UTSW |
4 |
88,546,219 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
RF012:Pramel32
|
UTSW |
4 |
88,546,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation