Incidental Mutation 'R8813:Pramel22'
ID |
672548 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel22
|
Ensembl Gene |
ENSMUSG00000078513 |
Gene Name |
PRAME like 22 |
Synonyms |
Gm13088 |
MMRRC Submission |
068648-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R8813 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
143380330-143383816 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 143380913 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 370
(N370I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101397
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105771]
|
AlphaFold |
A2AGW6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105771
AA Change: N370I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101397 Gene: ENSMUSG00000078513 AA Change: N370I
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
96% (48/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA467197 |
T |
C |
2: 122,482,622 (GRCm39) |
L62P |
probably damaging |
Het |
Amotl2 |
T |
G |
9: 102,607,291 (GRCm39) |
S700A |
probably damaging |
Het |
Ccdc7a |
A |
G |
8: 129,549,942 (GRCm39) |
S1259P |
possibly damaging |
Het |
Cenpj |
C |
T |
14: 56,790,355 (GRCm39) |
E565K |
probably damaging |
Het |
Clmp |
C |
T |
9: 40,692,549 (GRCm39) |
R273* |
probably null |
Het |
Cops7b |
A |
T |
1: 86,528,846 (GRCm39) |
Q191L |
probably benign |
Het |
Cyp2c23 |
A |
G |
19: 44,002,054 (GRCm39) |
F312L |
probably benign |
Het |
Dgkd |
G |
A |
1: 87,843,266 (GRCm39) |
C169Y |
probably damaging |
Het |
Dlec1 |
A |
T |
9: 118,956,498 (GRCm39) |
N724I |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 50,090,406 (GRCm39) |
V2831A |
probably damaging |
Het |
Dnah5 |
G |
T |
15: 28,229,719 (GRCm39) |
G118W |
probably damaging |
Het |
Dnah6 |
G |
T |
6: 73,104,937 (GRCm39) |
T1884K |
probably damaging |
Het |
Dnai4 |
T |
C |
4: 102,947,697 (GRCm39) |
E193G |
possibly damaging |
Het |
Efnb2 |
T |
A |
8: 8,670,731 (GRCm39) |
S290C |
probably damaging |
Het |
Eif1ad6 |
A |
G |
12: 87,668,593 (GRCm39) |
D75G |
probably damaging |
Het |
Eif2ak4 |
C |
A |
2: 118,278,806 (GRCm39) |
T990K |
probably damaging |
Het |
Erich3 |
A |
G |
3: 154,468,827 (GRCm39) |
D1093G |
unknown |
Het |
H2-DMa |
T |
C |
17: 34,354,734 (GRCm39) |
|
probably benign |
Het |
Habp2 |
G |
A |
19: 56,295,216 (GRCm39) |
D36N |
probably benign |
Het |
Kcnk13 |
G |
T |
12: 100,027,647 (GRCm39) |
G241W |
probably damaging |
Het |
Kdm6b |
GGGTGGTGGTGGTGGTGG |
GGGTGGTGGTGGTGGTGGTGG |
11: 69,297,655 (GRCm39) |
|
probably benign |
Het |
Kdm6b |
TGG |
TGGGGG |
11: 69,297,658 (GRCm39) |
|
probably benign |
Het |
Klk1b5 |
G |
T |
7: 43,496,549 (GRCm39) |
M160I |
probably benign |
Het |
Lonp2 |
A |
G |
8: 87,358,073 (GRCm39) |
Y98C |
probably damaging |
Het |
Marcksl1 |
C |
T |
4: 129,408,999 (GRCm39) |
P193S |
probably benign |
Het |
Nup133 |
AAGAGA |
AAGA |
8: 124,638,627 (GRCm39) |
900 |
probably null |
Het |
Nxf7 |
G |
A |
X: 134,484,515 (GRCm39) |
R513C |
possibly damaging |
Het |
Or13a19 |
C |
A |
7: 139,902,793 (GRCm39) |
Y60* |
probably null |
Het |
Or4a73 |
A |
T |
2: 89,420,730 (GRCm39) |
M243K |
probably benign |
Het |
Or52e5 |
T |
A |
7: 104,719,518 (GRCm39) |
Y281* |
probably null |
Het |
Or7g32 |
T |
G |
9: 19,389,477 (GRCm39) |
D23A |
possibly damaging |
Het |
Or7g34 |
A |
T |
9: 19,477,895 (GRCm39) |
Y262N |
probably damaging |
Het |
Otof |
T |
A |
5: 30,540,242 (GRCm39) |
M965L |
probably benign |
Het |
Parp12 |
A |
G |
6: 39,073,508 (GRCm39) |
F439S |
probably damaging |
Het |
Pde1a |
G |
A |
2: 79,959,261 (GRCm39) |
|
probably benign |
Het |
Prrc2c |
T |
C |
1: 162,532,812 (GRCm39) |
N1268D |
unknown |
Het |
Pter |
T |
C |
2: 12,985,114 (GRCm39) |
V148A |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,500,027 (GRCm39) |
M540T |
probably damaging |
Het |
Rnasel |
T |
A |
1: 153,629,641 (GRCm39) |
N52K |
probably damaging |
Het |
Rragd |
A |
T |
4: 33,012,953 (GRCm39) |
I317F |
possibly damaging |
Het |
Sla |
G |
T |
15: 66,664,127 (GRCm39) |
S81R |
probably benign |
Het |
T |
A |
G |
17: 8,653,532 (GRCm39) |
E57G |
probably benign |
Het |
Tanc1 |
T |
A |
2: 59,630,265 (GRCm39) |
F748L |
probably damaging |
Het |
Tnxb |
T |
A |
17: 34,938,136 (GRCm39) |
W3073R |
probably damaging |
Het |
Trim33 |
A |
G |
3: 103,254,052 (GRCm39) |
T967A |
probably benign |
Het |
Tro |
G |
A |
X: 149,438,555 (GRCm39) |
S34L |
unknown |
Het |
Trpm1 |
T |
A |
7: 63,851,756 (GRCm39) |
M158K |
possibly damaging |
Het |
Vmn1r205 |
A |
G |
13: 22,776,424 (GRCm39) |
L226P |
probably benign |
Het |
Vmn1r56 |
C |
T |
7: 5,198,733 (GRCm39) |
V295M |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,778,566 (GRCm39) |
D208G |
probably damaging |
Het |
Zfp11 |
T |
C |
5: 129,735,278 (GRCm39) |
D61G |
probably benign |
Het |
Zscan4e |
C |
A |
7: 11,041,540 (GRCm39) |
E139* |
probably null |
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 |
|
R1588:Pramel22
|
UTSW |
4 |
143,382,121 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TTTGGCCCTGAGCATATCCAG -3'
(R):5'- TGGATTACCTGCCCTATTGC -3'
Sequencing Primer
(F):5'- CTGAGCATATCCAGGACTTCAGG -3'
(R):5'- GCCCTATTGCCTGAATATTTTTGAG -3'
|
Posted On |
2021-04-30 |