Incidental Mutation 'R1103:Pramel22'
| ID |
98251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel22
|
| Ensembl Gene |
ENSMUSG00000078513 |
| Gene Name |
PRAME like 22 |
| Synonyms |
Gm13088 |
| MMRRC Submission |
039176-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R1103 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143380330-143383816 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 143381942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tryptophan
at position 251
(C251W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105771]
|
| AlphaFold |
A2AGW6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105771
AA Change: C251W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101397
Gene: ENSMUSG00000078513
AA Change: C251W
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
| Validation Efficiency |
97% (60/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| 4930524J08Rik |
G |
A |
5: 100,126,980 (GRCm39) |
|
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,204,287 (GRCm39) |
|
probably benign |
Het |
| Adpgk |
A |
G |
9: 59,221,079 (GRCm39) |
H295R |
probably damaging |
Het |
| Aftph |
A |
T |
11: 20,676,547 (GRCm39) |
M199K |
probably benign |
Het |
| Ap2a1 |
C |
A |
7: 44,553,593 (GRCm39) |
|
probably benign |
Het |
| Atpaf2 |
T |
C |
11: 60,294,776 (GRCm39) |
I216V |
probably benign |
Het |
| Bag4 |
A |
T |
8: 26,257,891 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,050,672 (GRCm39) |
M3003L |
probably benign |
Het |
| Bud23 |
T |
C |
5: 135,089,993 (GRCm39) |
S67G |
probably damaging |
Het |
| Cfap157 |
A |
G |
2: 32,671,410 (GRCm39) |
F132S |
probably damaging |
Het |
| Cngb3 |
G |
A |
4: 19,309,658 (GRCm39) |
|
probably null |
Het |
| Cntnap5a |
A |
G |
1: 116,508,399 (GRCm39) |
I1304V |
possibly damaging |
Het |
| Cp |
A |
G |
3: 20,036,149 (GRCm39) |
K764E |
possibly damaging |
Het |
| Crebbp |
A |
G |
16: 3,901,925 (GRCm39) |
V2438A |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,811,402 (GRCm39) |
W1230R |
probably damaging |
Het |
| Cul1 |
G |
A |
6: 47,494,111 (GRCm39) |
V475I |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,071 (GRCm39) |
S429P |
probably benign |
Het |
| Dtwd1 |
T |
C |
2: 125,996,643 (GRCm39) |
S43P |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,016,274 (GRCm39) |
T705A |
probably damaging |
Het |
| Erbin |
G |
T |
13: 104,022,710 (GRCm39) |
T43N |
probably benign |
Het |
| Fcgbpl1 |
G |
T |
7: 27,853,945 (GRCm39) |
L1636F |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Gpr150 |
G |
T |
13: 76,203,712 (GRCm39) |
P411Q |
probably damaging |
Het |
| Grap |
C |
A |
11: 61,562,544 (GRCm39) |
Q172K |
probably benign |
Het |
| Ido2 |
G |
A |
8: 25,066,239 (GRCm39) |
T9M |
probably benign |
Het |
| Klkb1 |
C |
A |
8: 45,729,183 (GRCm39) |
C347F |
probably damaging |
Het |
| Klra17 |
G |
A |
6: 129,845,806 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,097,942 (GRCm39) |
L1774P |
probably damaging |
Het |
| Lhpp |
A |
T |
7: 132,212,484 (GRCm39) |
D17V |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,299 (GRCm39) |
T412A |
probably benign |
Het |
| Lrrc7 |
C |
T |
3: 157,854,343 (GRCm39) |
|
probably benign |
Het |
| Ltbp3 |
A |
T |
19: 5,797,439 (GRCm39) |
|
probably null |
Het |
| Ltbp3 |
G |
C |
19: 5,797,440 (GRCm39) |
|
probably null |
Het |
| Luzp1 |
T |
A |
4: 136,268,041 (GRCm39) |
L88Q |
possibly damaging |
Het |
| Magi2 |
T |
C |
5: 20,816,101 (GRCm39) |
I747T |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,563,974 (GRCm39) |
|
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,455,950 (GRCm39) |
|
probably null |
Het |
| Map3k5 |
C |
A |
10: 19,899,422 (GRCm39) |
D226E |
probably benign |
Het |
| Mtf1 |
T |
A |
4: 124,732,261 (GRCm39) |
S440T |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,714,156 (GRCm39) |
L389Q |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,160,827 (GRCm39) |
D900G |
probably benign |
Het |
| Nfasc |
T |
C |
1: 132,534,795 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 58,912,309 (GRCm39) |
S7044R |
probably damaging |
Het |
| Or5bw2 |
T |
A |
7: 6,573,111 (GRCm39) |
N40K |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,354,090 (GRCm39) |
V9A |
possibly damaging |
Het |
| Or6k4 |
T |
C |
1: 173,964,457 (GRCm39) |
V49A |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,201,066 (GRCm39) |
H421Q |
probably damaging |
Het |
| Pnmt |
G |
T |
11: 98,278,502 (GRCm39) |
R156L |
probably benign |
Het |
| Rnf138 |
A |
G |
18: 21,159,159 (GRCm39) |
E193G |
probably damaging |
Het |
| Sesn1 |
G |
T |
10: 41,778,589 (GRCm39) |
R346L |
possibly damaging |
Het |
| Setd4 |
G |
T |
16: 93,382,082 (GRCm39) |
H390Q |
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,116,299 (GRCm39) |
E688G |
possibly damaging |
Het |
| Syne2 |
G |
A |
12: 76,156,609 (GRCm39) |
D6802N |
probably benign |
Het |
| Syt16 |
A |
G |
12: 74,313,672 (GRCm39) |
K533E |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,591,504 (GRCm39) |
Q26H |
probably benign |
Het |
| Trim33 |
G |
T |
3: 103,218,201 (GRCm39) |
W250L |
probably damaging |
Het |
| Trip4 |
A |
G |
9: 65,788,188 (GRCm39) |
C86R |
probably benign |
Het |
| Upf2 |
T |
A |
2: 6,030,986 (GRCm39) |
C809S |
unknown |
Het |
| Vrk2 |
A |
G |
11: 26,499,325 (GRCm39) |
F76L |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,087,844 (GRCm39) |
T558A |
probably damaging |
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 |
|
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'- AGAGGTTTTACTCCTCCCAGGTCC -3'
(R):5'- GAGCTGGAGCTATGTTCTCTTTGCC -3'
Sequencing Primer
(F):5'- CCATAGCTTCCAAAACacaaaac -3'
(R):5'- GCCTAGAAGATCTGGCGTTTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation