Incidental Mutation 'R7626:Pramel32'
ID |
589433 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel32
|
Ensembl Gene |
ENSMUSG00000038330 |
Gene Name |
PRAME like 32 |
Synonyms |
C87499 |
MMRRC Submission |
045690-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.394)
|
Stock # |
R7626 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
88545557-88552423 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 88548279 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 42
(I42N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056691
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053304]
[ENSMUST00000107142]
[ENSMUST00000107143]
[ENSMUST00000134155]
[ENSMUST00000156062]
|
AlphaFold |
Q3UX49 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053304
AA Change: I42N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056691 Gene: ENSMUSG00000038330 AA Change: I42N
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
223 |
425 |
4e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107142
AA Change: I42N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107143
AA Change: I42N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134155
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156062
|
Meta Mutation Damage Score |
0.4350 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Alox5 |
T |
C |
6: 116,390,756 (GRCm39) |
D465G |
possibly damaging |
Het |
Arhgef16 |
T |
A |
4: 154,367,339 (GRCm39) |
K355N |
possibly damaging |
Het |
Camkk2 |
T |
A |
5: 122,902,363 (GRCm39) |
|
probably benign |
Het |
Ccdc171 |
C |
T |
4: 83,499,012 (GRCm39) |
Q237* |
probably null |
Het |
Ces2b |
T |
C |
8: 105,564,017 (GRCm39) |
Y464H |
possibly damaging |
Het |
Cntfr |
A |
G |
4: 41,662,013 (GRCm39) |
F243S |
possibly damaging |
Het |
Crip3 |
A |
T |
17: 46,740,791 (GRCm39) |
R65S |
probably benign |
Het |
Dcn |
A |
G |
10: 97,319,340 (GRCm39) |
Y39C |
possibly damaging |
Het |
Degs2 |
T |
C |
12: 108,658,332 (GRCm39) |
S216G |
possibly damaging |
Het |
Dmxl1 |
A |
G |
18: 50,035,861 (GRCm39) |
I2295V |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,389,511 (GRCm39) |
S794P |
probably damaging |
Het |
Eri1 |
A |
C |
8: 35,941,554 (GRCm39) |
Y264* |
probably null |
Het |
Etl4 |
T |
C |
2: 20,718,189 (GRCm39) |
L179P |
probably damaging |
Het |
F5 |
T |
G |
1: 164,014,481 (GRCm39) |
M584R |
possibly damaging |
Het |
Fam98c |
G |
T |
7: 28,852,248 (GRCm39) |
R104S |
probably damaging |
Het |
Flad1 |
A |
T |
3: 89,310,718 (GRCm39) |
I443N |
probably benign |
Het |
Hbp1 |
T |
C |
12: 31,993,899 (GRCm39) |
E43G |
probably benign |
Het |
Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
Kcnj3 |
T |
A |
2: 55,484,833 (GRCm39) |
C310* |
probably null |
Het |
Lct |
T |
C |
1: 128,212,932 (GRCm39) |
Y1907C |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,518,882 (GRCm39) |
V1896A |
possibly damaging |
Het |
Lrfn4 |
C |
A |
19: 4,663,679 (GRCm39) |
R285L |
probably damaging |
Het |
Ltb4r2 |
T |
A |
14: 56,000,338 (GRCm39) |
S320T |
probably damaging |
Het |
Mmd |
G |
T |
11: 90,148,378 (GRCm39) |
R20L |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,608,661 (GRCm39) |
S2146P |
probably benign |
Het |
Nop14 |
A |
G |
5: 34,809,135 (GRCm39) |
F319L |
probably damaging |
Het |
Numa1 |
C |
A |
7: 101,648,630 (GRCm39) |
T787K |
probably benign |
Het |
Or10q12 |
T |
G |
19: 13,745,709 (GRCm39) |
M1R |
probably null |
Het |
Or2t46 |
A |
C |
11: 58,471,999 (GRCm39) |
T110P |
probably damaging |
Het |
Or6c208 |
T |
G |
10: 129,223,726 (GRCm39) |
C75G |
possibly damaging |
Het |
Patj |
T |
C |
4: 98,435,224 (GRCm39) |
V2A |
probably benign |
Het |
Pisd |
T |
C |
5: 32,898,032 (GRCm39) |
H52R |
probably benign |
Het |
Plekhg6 |
A |
T |
6: 125,340,631 (GRCm39) |
D576E |
probably benign |
Het |
Plekhn1 |
T |
A |
4: 156,310,110 (GRCm39) |
H68L |
probably benign |
Het |
Ppp1r37 |
T |
A |
7: 19,295,778 (GRCm39) |
I60F |
probably damaging |
Het |
Ppp2r1b |
C |
T |
9: 50,789,476 (GRCm39) |
T513M |
possibly damaging |
Het |
Rhobtb2 |
C |
A |
14: 70,034,386 (GRCm39) |
A280S |
probably damaging |
Het |
Rnf40 |
A |
G |
7: 127,189,047 (GRCm39) |
D140G |
probably benign |
Het |
Rxfp1 |
A |
G |
3: 79,555,397 (GRCm39) |
L653P |
probably damaging |
Het |
Satb1 |
A |
T |
17: 52,074,995 (GRCm39) |
D500E |
probably benign |
Het |
Slc15a1 |
A |
T |
14: 121,713,377 (GRCm39) |
D383E |
probably benign |
Het |
Smarcad1 |
C |
A |
6: 65,073,033 (GRCm39) |
S604R |
possibly damaging |
Het |
St7 |
A |
G |
6: 17,934,216 (GRCm39) |
T533A |
probably damaging |
Het |
Sv2c |
T |
A |
13: 96,122,451 (GRCm39) |
T442S |
probably benign |
Het |
Tbx2 |
A |
G |
11: 85,731,622 (GRCm39) |
T640A |
probably benign |
Het |
Tenm4 |
T |
A |
7: 96,542,221 (GRCm39) |
N1948K |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,551,268 (GRCm39) |
|
probably null |
Het |
Tmem135 |
A |
T |
7: 88,805,718 (GRCm39) |
|
probably null |
Het |
Tonsl |
A |
T |
15: 76,518,136 (GRCm39) |
L582Q |
probably null |
Het |
Unc13c |
T |
A |
9: 73,641,799 (GRCm39) |
K1231N |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,832,192 (GRCm39) |
Y729* |
probably null |
Het |
Zcchc2 |
A |
G |
1: 105,928,742 (GRCm39) |
T334A |
possibly damaging |
Het |
Zfp655 |
T |
C |
5: 145,173,917 (GRCm39) |
L136P |
probably damaging |
Het |
Zfp729a |
A |
T |
13: 67,768,437 (GRCm39) |
C597* |
probably null |
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 |
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 |
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'- CGAACCTTTGGTGCAAGCAG -3'
(R):5'- TCAGCAGTGATCTAGCCCTC -3'
Sequencing Primer
(F):5'- GGTGCAAGCAGTATATCTAGTCCC -3'
(R):5'- AGCAGTGATCTAGCCCTCATACTTC -3'
|
Posted On |
2019-10-24 |