Incidental Mutation 'R0166:Pramel22'
| ID |
50129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel22
|
| Ensembl Gene |
ENSMUSG00000078513 |
| Gene Name |
PRAME like 22 |
| Synonyms |
Gm13088 |
| MMRRC Submission |
038442-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R0166 (G1)
|
| Quality Score |
143 |
|
Status
|
Validated
(trace)
|
| Chromosome |
4 |
| Chromosomal Location |
143380330-143383816 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143381081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 314
(H314L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105771]
|
| AlphaFold |
A2AGW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105771
AA Change: H314L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101397
Gene: ENSMUSG00000078513
AA Change: H314L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
391 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 91.4%
|
| Validation Efficiency |
91% (49/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,903,468 (GRCm39) |
F1040L |
probably damaging |
Het |
| Adamts7 |
A |
G |
9: 90,075,745 (GRCm39) |
N1201S |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,983,089 (GRCm39) |
P1458S |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,187,707 (GRCm39) |
V1707A |
probably benign |
Het |
| Akr1c21 |
T |
A |
13: 4,631,263 (GRCm39) |
V266E |
probably damaging |
Het |
| Arap2 |
A |
C |
5: 62,833,361 (GRCm39) |
C894G |
probably damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,604,901 (GRCm39) |
D426G |
possibly damaging |
Het |
| Azi2 |
A |
T |
9: 117,884,909 (GRCm39) |
Q132L |
possibly damaging |
Het |
| Carmil1 |
C |
T |
13: 24,283,032 (GRCm39) |
D91N |
probably damaging |
Het |
| Cnot7 |
A |
T |
8: 40,960,494 (GRCm39) |
|
probably null |
Het |
| Cntnap5b |
A |
G |
1: 100,202,086 (GRCm39) |
E311G |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,283,036 (GRCm39) |
V640A |
probably benign |
Het |
| Cst7 |
T |
C |
2: 150,417,647 (GRCm39) |
S31P |
probably benign |
Het |
| Cyp7b1 |
T |
A |
3: 18,151,530 (GRCm39) |
I228L |
probably benign |
Het |
| Ddx28 |
G |
A |
8: 106,736,921 (GRCm39) |
T379I |
probably benign |
Het |
| Drd1 |
T |
A |
13: 54,207,600 (GRCm39) |
I205F |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,896,115 (GRCm38) |
V837D |
probably damaging |
Het |
| Fsd1l |
A |
G |
4: 53,647,664 (GRCm39) |
|
probably null |
Het |
| Fubp1 |
T |
A |
3: 151,925,841 (GRCm39) |
Y264* |
probably null |
Het |
| Gbp5 |
T |
A |
3: 142,212,680 (GRCm39) |
|
probably null |
Het |
| Gm7094 |
A |
G |
1: 21,342,958 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr55 |
A |
G |
1: 85,868,858 (GRCm39) |
V241A |
probably benign |
Het |
| Impa1 |
C |
T |
3: 10,394,020 (GRCm39) |
A16T |
probably damaging |
Het |
| Llgl2 |
T |
C |
11: 115,735,680 (GRCm39) |
L92P |
probably damaging |
Het |
| Ltbp2 |
T |
A |
12: 84,833,132 (GRCm39) |
Q1472L |
probably benign |
Het |
| Lyplal1 |
A |
T |
1: 185,820,943 (GRCm39) |
M168K |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,410,815 (GRCm39) |
R528* |
probably null |
Het |
| Mdm1 |
T |
A |
10: 118,002,585 (GRCm39) |
D635E |
probably damaging |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mrpl23 |
C |
T |
7: 142,088,851 (GRCm39) |
R69W |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nr0b2 |
A |
G |
4: 133,281,049 (GRCm39) |
Q105R |
probably damaging |
Het |
| Or8b53 |
T |
A |
9: 38,667,484 (GRCm39) |
S167T |
probably benign |
Het |
| Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,542 (GRCm39) |
|
probably null |
Het |
| Plxna1 |
A |
G |
6: 89,310,001 (GRCm39) |
W1055R |
probably damaging |
Het |
| Prdm1 |
C |
T |
10: 44,316,087 (GRCm39) |
R716Q |
probably damaging |
Het |
| Proser1 |
C |
A |
3: 53,388,038 (GRCm39) |
Q909K |
possibly damaging |
Het |
| Pus10 |
T |
A |
11: 23,617,358 (GRCm39) |
C24S |
probably damaging |
Het |
| Rpl27 |
T |
A |
11: 101,336,146 (GRCm39) |
F69I |
possibly damaging |
Het |
| Sctr |
A |
T |
1: 119,983,124 (GRCm39) |
I325F |
probably damaging |
Het |
| Slc49a4 |
G |
A |
16: 35,539,684 (GRCm39) |
T379I |
possibly damaging |
Het |
| Slc5a3 |
G |
A |
16: 91,874,581 (GRCm39) |
V213I |
possibly damaging |
Het |
| Spib |
G |
T |
7: 44,179,324 (GRCm39) |
D28E |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,511,579 (GRCm39) |
S226G |
possibly damaging |
Het |
| Tet1 |
T |
A |
10: 62,676,058 (GRCm39) |
T673S |
probably benign |
Het |
| Tph1 |
A |
G |
7: 46,297,020 (GRCm39) |
F392L |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,373,500 (GRCm39) |
S979P |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,122,812 (GRCm39) |
L2110P |
probably damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Zfp467 |
T |
C |
6: 48,415,615 (GRCm39) |
T346A |
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 |
|
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 |
|
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'- TTTGGCCCTGAGCATATCCAGGAC -3'
(R):5'- TGCTGTAGTTTCCAGCAAGGCAC -3'
Sequencing Primer
(F):5'- CTGAGCATATCCAGGACTTCAGG -3'
(R):5'- GTTTCCAGCAAGGCACTGAATC -3'
|
| Posted On |
2013-06-14 |
Incidental Mutation