Incidental Mutation 'R5229:Pramel32'
ID |
403642 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel32
|
Ensembl Gene |
ENSMUSG00000038330 |
Gene Name |
PRAME like 32 |
Synonyms |
C87499 |
MMRRC Submission |
042802-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.394)
|
Stock # |
R5229 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
88545557-88552423 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88548372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 11
(D11G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056691
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053304]
[ENSMUST00000107142]
[ENSMUST00000107143]
[ENSMUST00000134155]
[ENSMUST00000156062]
|
AlphaFold |
Q3UX49 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053304
AA Change: D11G
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000056691 Gene: ENSMUSG00000038330 AA Change: D11G
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
223 |
425 |
4e-9 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107142
AA Change: D11G
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107143
AA Change: D11G
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134155
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156062
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930444P10Rik |
T |
C |
1: 16,151,183 (GRCm39) |
|
probably benign |
Het |
4930562C15Rik |
A |
G |
16: 4,667,915 (GRCm39) |
I435M |
possibly damaging |
Het |
Adcy5 |
A |
G |
16: 35,089,440 (GRCm39) |
I546V |
probably damaging |
Het |
Apob |
A |
G |
12: 8,027,806 (GRCm39) |
T10A |
probably benign |
Het |
Brwd1 |
C |
A |
16: 95,803,409 (GRCm39) |
D2254Y |
possibly damaging |
Het |
Bub1b |
C |
A |
2: 118,460,470 (GRCm39) |
D600E |
probably damaging |
Het |
Cnga1 |
A |
G |
5: 72,766,843 (GRCm39) |
S199P |
probably damaging |
Het |
Cyp3a11 |
G |
T |
5: 145,791,945 (GRCm39) |
L483I |
probably benign |
Het |
Depp1 |
T |
C |
6: 116,628,992 (GRCm39) |
S112P |
possibly damaging |
Het |
Dpysl3 |
C |
A |
18: 43,466,016 (GRCm39) |
G457V |
probably damaging |
Het |
Eif4g3 |
C |
A |
4: 137,824,105 (GRCm39) |
P36T |
possibly damaging |
Het |
Epb41 |
C |
A |
4: 131,706,246 (GRCm39) |
G415C |
probably damaging |
Het |
Erap1 |
G |
A |
13: 74,808,494 (GRCm39) |
V69M |
possibly damaging |
Het |
F2 |
A |
T |
2: 91,460,586 (GRCm39) |
Y301* |
probably null |
Het |
F2rl2 |
A |
T |
13: 95,837,195 (GRCm39) |
N80I |
possibly damaging |
Het |
Fam237b |
A |
T |
5: 5,625,565 (GRCm39) |
Y87F |
possibly damaging |
Het |
Gm15446 |
T |
G |
5: 110,091,036 (GRCm39) |
H429Q |
probably damaging |
Het |
Gpat3 |
G |
A |
5: 101,031,290 (GRCm39) |
G148D |
probably damaging |
Het |
Gpr26 |
A |
T |
7: 131,585,976 (GRCm39) |
R315S |
probably damaging |
Het |
Hdac9 |
A |
C |
12: 34,487,163 (GRCm39) |
H100Q |
probably damaging |
Het |
Heatr5a |
A |
T |
12: 51,994,761 (GRCm39) |
V457D |
probably benign |
Het |
Igkv10-96 |
A |
G |
6: 68,609,223 (GRCm39) |
M24T |
possibly damaging |
Het |
Igkv2-95-2 |
A |
G |
6: 68,625,095 (GRCm39) |
|
noncoding transcript |
Het |
Kdm4a |
G |
A |
4: 118,003,802 (GRCm39) |
S758F |
probably damaging |
Het |
Lrg1 |
A |
G |
17: 56,427,154 (GRCm39) |
W273R |
probably damaging |
Het |
Man2a1 |
A |
T |
17: 65,017,729 (GRCm39) |
Q658H |
probably benign |
Het |
Mapkapk5 |
T |
C |
5: 121,671,454 (GRCm39) |
|
probably null |
Het |
Mcm6 |
T |
C |
1: 128,261,321 (GRCm39) |
D761G |
possibly damaging |
Het |
Myh8 |
A |
T |
11: 67,175,310 (GRCm39) |
Y286F |
probably damaging |
Het |
Nbn |
C |
T |
4: 15,963,893 (GRCm39) |
T98I |
probably damaging |
Het |
Nrdc |
T |
C |
4: 108,906,305 (GRCm39) |
S685P |
probably damaging |
Het |
Nudcd3 |
A |
G |
11: 6,143,238 (GRCm39) |
V80A |
probably benign |
Het |
Or10al5 |
A |
G |
17: 38,063,192 (GRCm39) |
H149R |
probably benign |
Het |
Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
Pdcd6ip |
A |
T |
9: 113,507,401 (GRCm39) |
M390K |
probably damaging |
Het |
Pon1 |
C |
T |
6: 5,177,295 (GRCm39) |
V205I |
possibly damaging |
Het |
Ppp4r2 |
C |
A |
6: 100,842,176 (GRCm39) |
H212Q |
probably benign |
Het |
Prl2c5 |
G |
A |
13: 13,360,441 (GRCm39) |
C33Y |
probably damaging |
Het |
Rbak |
A |
G |
5: 143,159,917 (GRCm39) |
F379L |
probably damaging |
Het |
Rcc2 |
G |
A |
4: 140,444,340 (GRCm39) |
D344N |
probably damaging |
Het |
Rgs3 |
T |
C |
4: 62,620,424 (GRCm39) |
L550P |
probably damaging |
Het |
Rnasek |
A |
T |
11: 70,130,486 (GRCm39) |
M25K |
probably damaging |
Het |
Scgb1b24 |
A |
T |
7: 33,443,520 (GRCm39) |
T60S |
possibly damaging |
Het |
Scn5a |
A |
G |
9: 119,365,042 (GRCm39) |
F392S |
probably damaging |
Het |
Scpep1 |
A |
T |
11: 88,827,871 (GRCm39) |
V209E |
probably damaging |
Het |
Slc35g1 |
A |
G |
19: 38,391,080 (GRCm39) |
|
probably null |
Het |
Sorbs1 |
A |
G |
19: 40,329,151 (GRCm39) |
I554T |
probably damaging |
Het |
Spats1 |
A |
G |
17: 45,777,059 (GRCm39) |
|
probably benign |
Het |
Tdp1 |
A |
G |
12: 99,859,919 (GRCm39) |
Q202R |
probably damaging |
Het |
Trav6-5 |
T |
G |
14: 53,729,045 (GRCm39) |
S102A |
probably damaging |
Het |
Tspan2 |
T |
C |
3: 102,676,215 (GRCm39) |
M208T |
probably damaging |
Het |
Ube4b |
A |
G |
4: 149,471,635 (GRCm39) |
S84P |
probably damaging |
Het |
Vmn1r237 |
C |
A |
17: 21,534,633 (GRCm39) |
Q119K |
probably benign |
Het |
Vmn2r125 |
C |
T |
4: 156,703,333 (GRCm39) |
T237I |
probably benign |
Het |
Zfp65 |
A |
T |
13: 67,856,929 (GRCm39) |
S117T |
probably benign |
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 |
IGL02321:Pramel32
|
APN |
4 |
88,548,340 (GRCm39) |
missense |
probably benign |
0.33 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTATCATGGCCCTTAAGGTC -3'
(R):5'- AAGCAGTTCAGCATTAGACATG -3'
Sequencing Primer
(F):5'- CTTTGTACATTCATCAGTGAAGGCC -3'
(R):5'- AGCAAATCTCTGTGAGGTCC -3'
|
Posted On |
2016-07-22 |