Incidental Mutation 'R5242:Pramel22'
| ID |
400895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel22
|
| Ensembl Gene |
ENSMUSG00000078513 |
| Gene Name |
PRAME like 22 |
| Synonyms |
Gm13088 |
| MMRRC Submission |
042813-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R5242 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143380330-143383816 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143382181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 172
(L172I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105771]
|
| AlphaFold |
A2AGW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105771
AA Change: L172I
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101397
Gene: ENSMUSG00000078513
AA Change: L172I
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
T |
C |
8: 84,657,711 (GRCm39) |
V439A |
possibly damaging |
Het |
| Aldh6a1 |
A |
G |
12: 84,483,157 (GRCm39) |
V390A |
probably damaging |
Het |
| Alox5 |
T |
C |
6: 116,437,927 (GRCm39) |
D20G |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,600,009 (GRCm39) |
F487I |
probably damaging |
Het |
| BC048679 |
G |
A |
7: 81,145,091 (GRCm39) |
T84M |
probably damaging |
Het |
| C2cd3 |
T |
C |
7: 100,039,373 (GRCm39) |
S191P |
probably benign |
Het |
| Cdh6 |
A |
G |
15: 13,064,497 (GRCm39) |
V131A |
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,134,423 (GRCm39) |
T425A |
probably benign |
Het |
| Cplane2 |
T |
C |
4: 140,947,158 (GRCm39) |
Y180H |
probably damaging |
Het |
| Ddx39a |
A |
G |
8: 84,448,440 (GRCm39) |
S231G |
probably benign |
Het |
| Diaph1 |
C |
T |
18: 37,984,688 (GRCm39) |
G1176R |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,864,484 (GRCm39) |
V2230L |
probably benign |
Het |
| Foxo1 |
T |
C |
3: 52,176,676 (GRCm39) |
S152P |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,805,109 (GRCm39) |
D1250E |
probably benign |
Het |
| G6pd2 |
A |
G |
5: 61,966,785 (GRCm39) |
I187V |
probably benign |
Het |
| Gm10113 |
T |
C |
13: 46,330,992 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxd1 |
A |
G |
2: 74,593,792 (GRCm39) |
D116G |
probably damaging |
Het |
| Igkv13-85 |
A |
T |
6: 68,907,544 (GRCm39) |
I19K |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,880,486 (GRCm39) |
V288M |
probably damaging |
Het |
| Ndrg2 |
A |
G |
14: 52,148,541 (GRCm39) |
|
probably null |
Het |
| Neurl3 |
G |
A |
1: 36,308,501 (GRCm39) |
Q104* |
probably null |
Het |
| Nudt16l1 |
C |
T |
16: 4,757,485 (GRCm39) |
R133W |
probably damaging |
Het |
| Oasl2 |
A |
T |
5: 115,043,122 (GRCm39) |
Q298L |
possibly damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,848 (GRCm39) |
M84K |
possibly damaging |
Het |
| Or51a25 |
C |
T |
7: 102,373,483 (GRCm39) |
M71I |
probably benign |
Het |
| Pnma2 |
C |
A |
14: 67,153,746 (GRCm39) |
Q57K |
probably benign |
Het |
| Rps7 |
T |
A |
12: 28,681,136 (GRCm39) |
E188D |
probably benign |
Het |
| Rrp1b |
T |
C |
17: 32,270,677 (GRCm39) |
V212A |
possibly damaging |
Het |
| Serpina9 |
C |
A |
12: 103,974,644 (GRCm39) |
A170S |
probably benign |
Het |
| Shmt2 |
C |
T |
10: 127,354,789 (GRCm39) |
V299I |
probably benign |
Het |
| Siae |
C |
T |
9: 37,556,148 (GRCm39) |
P435S |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,630,242 (GRCm39) |
S99P |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Stimate |
T |
A |
14: 30,547,793 (GRCm39) |
F36I |
probably damaging |
Het |
| Tas2r124 |
T |
C |
6: 132,732,503 (GRCm39) |
Y271H |
possibly damaging |
Het |
| Thsd7a |
A |
T |
6: 12,327,582 (GRCm39) |
I1430K |
probably damaging |
Het |
| Trmt9b |
A |
G |
8: 36,979,084 (GRCm39) |
K229R |
probably benign |
Het |
| Tsc22d2 |
T |
A |
3: 58,323,360 (GRCm39) |
V84E |
possibly damaging |
Het |
| Ube2s |
C |
T |
7: 4,813,434 (GRCm39) |
R110Q |
possibly damaging |
Het |
| Usp3 |
C |
T |
9: 66,434,432 (GRCm39) |
C283Y |
probably damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,129,309 (GRCm39) |
Y733* |
probably null |
Het |
| Wdr75 |
T |
A |
1: 45,856,487 (GRCm39) |
C503* |
probably null |
Het |
| Zfp764 |
T |
C |
7: 127,004,541 (GRCm39) |
M197V |
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 |
|
|
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 |
|
|
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'- CACCAATACTGAGGGAATCTGTG -3'
(R):5'- ATGGTTTGGATGGAATACGGCC -3'
Sequencing Primer
(F):5'- CCAATACTGAGGGAATCTGTGATGTG -3'
(R):5'- CCTGGATCCCATGAAGTTGAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation