Incidental Mutation 'R1588:Pramel22'
ID |
177630 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel22
|
Ensembl Gene |
ENSMUSG00000078513 |
Gene Name |
PRAME like 22 |
Synonyms |
Gm13088 |
MMRRC Submission |
039625-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R1588 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143380330-143383816 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 143382121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 192
(L192M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101397
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105771]
|
AlphaFold |
A2AGW6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105771
AA Change: L192M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101397 Gene: ENSMUSG00000078513 AA Change: L192M
Domain | Start | End | E-Value | Type |
low complexity region
|
188 |
202 |
N/A |
INTRINSIC |
low complexity region
|
372 |
391 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
A |
G |
14: 118,771,484 (GRCm39) |
V869A |
probably benign |
Het |
Ablim1 |
C |
T |
19: 57,071,979 (GRCm39) |
M1I |
probably null |
Het |
Adamts13 |
A |
T |
2: 26,865,687 (GRCm39) |
I81F |
probably benign |
Het |
Akap11 |
A |
T |
14: 78,747,685 (GRCm39) |
N1567K |
possibly damaging |
Het |
Arrdc4 |
G |
A |
7: 68,391,484 (GRCm39) |
T261M |
possibly damaging |
Het |
C4b |
T |
C |
17: 34,959,999 (GRCm39) |
I326V |
probably benign |
Het |
Casp8ap2 |
G |
A |
4: 32,640,541 (GRCm39) |
A532T |
probably benign |
Het |
Ccdc134 |
A |
G |
15: 82,019,337 (GRCm39) |
T187A |
probably benign |
Het |
Cdh8 |
T |
C |
8: 99,917,039 (GRCm39) |
N359D |
probably damaging |
Het |
Cep97 |
A |
G |
16: 55,748,184 (GRCm39) |
L82P |
probably damaging |
Het |
Cfap53 |
A |
T |
18: 74,440,444 (GRCm39) |
R404S |
probably benign |
Het |
Chrng |
C |
A |
1: 87,135,229 (GRCm39) |
F179L |
probably damaging |
Het |
Ddi1 |
A |
T |
9: 6,265,391 (GRCm39) |
I326K |
probably damaging |
Het |
Decr2 |
T |
C |
17: 26,302,002 (GRCm39) |
T243A |
possibly damaging |
Het |
Dip2c |
T |
C |
13: 9,715,900 (GRCm39) |
V1502A |
probably damaging |
Het |
Edem1 |
T |
C |
6: 108,818,640 (GRCm39) |
V216A |
probably damaging |
Het |
Fat2 |
A |
C |
11: 55,174,230 (GRCm39) |
V2161G |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,161,034 (GRCm39) |
T2169A |
probably benign |
Het |
Fmn1 |
T |
C |
2: 113,196,043 (GRCm39) |
V581A |
unknown |
Het |
Hip1r |
A |
T |
5: 124,134,638 (GRCm39) |
D350V |
probably damaging |
Het |
Ift140 |
G |
A |
17: 25,306,959 (GRCm39) |
R898H |
probably damaging |
Het |
Il12a |
A |
G |
3: 68,602,896 (GRCm39) |
I159V |
probably benign |
Het |
Itprid1 |
A |
G |
6: 55,955,488 (GRCm39) |
E1032G |
possibly damaging |
Het |
Kl |
A |
G |
5: 150,906,097 (GRCm39) |
E489G |
probably benign |
Het |
Klhl3 |
T |
C |
13: 58,161,712 (GRCm39) |
E461G |
probably damaging |
Het |
Masp1 |
T |
C |
16: 23,313,404 (GRCm39) |
Y177C |
probably damaging |
Het |
Nop58 |
T |
A |
1: 59,742,031 (GRCm39) |
Y187N |
probably damaging |
Het |
Npc1l1 |
A |
G |
11: 6,167,785 (GRCm39) |
V1002A |
probably benign |
Het |
Ntaq1 |
T |
A |
15: 58,021,285 (GRCm39) |
|
probably null |
Het |
Ntrk1 |
A |
T |
3: 87,687,384 (GRCm39) |
Y683* |
probably null |
Het |
Or11g26 |
A |
G |
14: 50,753,584 (GRCm39) |
I308V |
probably benign |
Het |
Or13j1 |
C |
T |
4: 43,705,923 (GRCm39) |
C215Y |
probably damaging |
Het |
Or2w4 |
C |
T |
13: 21,796,083 (GRCm39) |
D19N |
probably benign |
Het |
Or8k21 |
T |
C |
2: 86,144,874 (GRCm39) |
Y252C |
probably damaging |
Het |
Osbpl6 |
T |
C |
2: 76,409,560 (GRCm39) |
V367A |
probably benign |
Het |
Phip |
A |
G |
9: 82,782,881 (GRCm39) |
W855R |
probably damaging |
Het |
Phlpp1 |
A |
G |
1: 106,308,115 (GRCm39) |
S1131G |
probably damaging |
Het |
Pkdrej |
A |
T |
15: 85,701,442 (GRCm39) |
V1498E |
probably benign |
Het |
Prkaa2 |
T |
C |
4: 104,908,420 (GRCm39) |
N152D |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Pxdn |
G |
A |
12: 30,052,558 (GRCm39) |
V732M |
probably damaging |
Het |
Rccd1 |
C |
T |
7: 79,969,859 (GRCm39) |
W223* |
probably null |
Het |
Riox2 |
T |
A |
16: 59,295,946 (GRCm39) |
S16T |
possibly damaging |
Het |
Scn5a |
C |
T |
9: 119,350,367 (GRCm39) |
V836I |
probably damaging |
Het |
Serpinf1 |
G |
A |
11: 75,301,076 (GRCm39) |
R380C |
probably damaging |
Het |
Sf3b1 |
A |
T |
1: 55,036,336 (GRCm39) |
N912K |
probably benign |
Het |
Shprh |
T |
A |
10: 11,040,488 (GRCm39) |
C134S |
probably damaging |
Het |
Skint8 |
T |
A |
4: 111,785,924 (GRCm39) |
C123* |
probably null |
Het |
Slc16a13 |
G |
T |
11: 70,109,421 (GRCm39) |
S360* |
probably null |
Het |
Srr |
A |
G |
11: 74,799,629 (GRCm39) |
I282T |
possibly damaging |
Het |
Trpm1 |
T |
C |
7: 63,873,565 (GRCm39) |
F607L |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,539,870 (GRCm39) |
D34372G |
probably benign |
Het |
Tub |
C |
T |
7: 108,628,888 (GRCm39) |
T401I |
probably damaging |
Het |
Wdhd1 |
T |
C |
14: 47,493,693 (GRCm39) |
E9G |
probably damaging |
Het |
Yipf3 |
T |
A |
17: 46,561,787 (GRCm39) |
F198Y |
possibly damaging |
Het |
Zfp955a |
C |
T |
17: 33,460,791 (GRCm39) |
R447K |
probably benign |
Het |
|
Other mutations in Pramel22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01413:Pramel22
|
APN |
4 |
143,381,887 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01418:Pramel22
|
APN |
4 |
143,381,887 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01551:Pramel22
|
APN |
4 |
143,383,042 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02016:Pramel22
|
APN |
4 |
143,381,889 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL02157:Pramel22
|
APN |
4 |
143,380,947 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02433:Pramel22
|
APN |
4 |
143,382,007 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02726:Pramel22
|
APN |
4 |
143,381,955 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02900:Pramel22
|
APN |
4 |
143,382,085 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL03367:Pramel22
|
APN |
4 |
143,382,193 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02835:Pramel22
|
UTSW |
4 |
143,380,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R0141:Pramel22
|
UTSW |
4 |
143,381,138 (GRCm39) |
missense |
probably benign |
0.01 |
R0166:Pramel22
|
UTSW |
4 |
143,381,081 (GRCm39) |
missense |
probably benign |
0.00 |
R0197:Pramel22
|
UTSW |
4 |
143,383,010 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0365:Pramel22
|
UTSW |
4 |
143,382,071 (GRCm39) |
nonsense |
probably null |
|
R0427:Pramel22
|
UTSW |
4 |
143,380,993 (GRCm39) |
missense |
probably benign |
0.00 |
R0701:Pramel22
|
UTSW |
4 |
143,383,010 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0927:Pramel22
|
UTSW |
4 |
143,380,790 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1103:Pramel22
|
UTSW |
4 |
143,381,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R1163:Pramel22
|
UTSW |
4 |
143,383,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R1565:Pramel22
|
UTSW |
4 |
143,382,187 (GRCm39) |
nonsense |
probably null |
|
R1669:Pramel22
|
UTSW |
4 |
143,380,916 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1925:Pramel22
|
UTSW |
4 |
143,381,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R1929:Pramel22
|
UTSW |
4 |
143,380,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R1990:Pramel22
|
UTSW |
4 |
143,380,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R2272:Pramel22
|
UTSW |
4 |
143,380,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R2845:Pramel22
|
UTSW |
4 |
143,380,868 (GRCm39) |
missense |
probably damaging |
0.99 |
R3819:Pramel22
|
UTSW |
4 |
143,382,365 (GRCm39) |
missense |
probably benign |
0.02 |
R4660:Pramel22
|
UTSW |
4 |
143,380,847 (GRCm39) |
missense |
probably benign |
0.01 |
R4857:Pramel22
|
UTSW |
4 |
143,383,158 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4888:Pramel22
|
UTSW |
4 |
143,380,971 (GRCm39) |
missense |
probably benign |
0.33 |
R5004:Pramel22
|
UTSW |
4 |
143,380,706 (GRCm39) |
missense |
probably benign |
|
R5242:Pramel22
|
UTSW |
4 |
143,382,181 (GRCm39) |
missense |
probably benign |
0.38 |
R5246:Pramel22
|
UTSW |
4 |
143,382,127 (GRCm39) |
missense |
probably benign |
0.00 |
R5596:Pramel22
|
UTSW |
4 |
143,381,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R5735:Pramel22
|
UTSW |
4 |
143,381,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R5841:Pramel22
|
UTSW |
4 |
143,382,109 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5982:Pramel22
|
UTSW |
4 |
143,381,034 (GRCm39) |
missense |
probably damaging |
0.99 |
R6052:Pramel22
|
UTSW |
4 |
143,382,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R6169:Pramel22
|
UTSW |
4 |
143,380,685 (GRCm39) |
missense |
probably benign |
0.04 |
R6403:Pramel22
|
UTSW |
4 |
143,382,343 (GRCm39) |
nonsense |
probably null |
|
R6584:Pramel22
|
UTSW |
4 |
143,382,040 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6898:Pramel22
|
UTSW |
4 |
143,382,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R7438:Pramel22
|
UTSW |
4 |
143,382,130 (GRCm39) |
missense |
probably damaging |
0.96 |
R7563:Pramel22
|
UTSW |
4 |
143,380,675 (GRCm39) |
nonsense |
probably null |
|
R7674:Pramel22
|
UTSW |
4 |
143,382,175 (GRCm39) |
nonsense |
probably null |
|
R7792:Pramel22
|
UTSW |
4 |
143,381,123 (GRCm39) |
missense |
probably benign |
0.00 |
R7796:Pramel22
|
UTSW |
4 |
143,380,727 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7915:Pramel22
|
UTSW |
4 |
143,382,315 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7921:Pramel22
|
UTSW |
4 |
143,383,135 (GRCm39) |
missense |
probably damaging |
0.97 |
R8213:Pramel22
|
UTSW |
4 |
143,380,755 (GRCm39) |
missense |
probably benign |
0.00 |
R8419:Pramel22
|
UTSW |
4 |
143,382,997 (GRCm39) |
missense |
probably damaging |
0.99 |
R8813:Pramel22
|
UTSW |
4 |
143,380,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R8844:Pramel22
|
UTSW |
4 |
143,380,976 (GRCm39) |
missense |
probably damaging |
0.99 |
R8893:Pramel22
|
UTSW |
4 |
143,382,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R9098:Pramel22
|
UTSW |
4 |
143,381,097 (GRCm39) |
missense |
probably benign |
0.01 |
R9185:Pramel22
|
UTSW |
4 |
143,381,898 (GRCm39) |
missense |
probably benign |
0.03 |
R9422:Pramel22
|
UTSW |
4 |
143,382,982 (GRCm39) |
missense |
probably damaging |
1.00 |
X0021:Pramel22
|
UTSW |
4 |
143,382,318 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGCACAGGGCTCATCTGCTCAG -3'
(R):5'- TGGAACAGAAGCATCCTAATTGTGTGG -3'
Sequencing Primer
(F):5'- aacaaaacaaatggaggcaaaag -3'
(R):5'- GAAGGTAACAACTGAACTCTCTGTC -3'
|
Posted On |
2014-04-24 |