Incidental Mutation 'R9422:Pramel22'
ID |
712370 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel22
|
Ensembl Gene |
ENSMUSG00000078513 |
Gene Name |
PRAME like 22 |
Synonyms |
Gm13088 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R9422 (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 143382982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 79
(K79M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101397
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105771]
|
AlphaFold |
A2AGW6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105771
AA Change: K79M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101397 Gene: ENSMUSG00000078513 AA Change: K79M
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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (55/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
G |
A |
16: 4,667,153 (GRCm39) |
V209I |
|
Het |
Adamts18 |
T |
A |
8: 114,501,910 (GRCm39) |
Y317F |
probably damaging |
Het |
Adgrg6 |
C |
T |
10: 14,302,740 (GRCm39) |
R863H |
probably damaging |
Het |
Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
Ank2 |
C |
A |
3: 126,890,505 (GRCm39) |
K55N |
unknown |
Het |
B3galnt2 |
A |
G |
13: 14,150,136 (GRCm39) |
T160A |
probably benign |
Het |
Becn1 |
C |
A |
11: 101,192,832 (GRCm39) |
|
probably benign |
Het |
Ccdc57 |
T |
C |
11: 120,764,444 (GRCm39) |
N777S |
possibly damaging |
Het |
Cd302 |
T |
C |
2: 60,082,697 (GRCm39) |
Y209C |
probably damaging |
Het |
Cfap69 |
A |
G |
5: 5,699,851 (GRCm39) |
V63A |
probably benign |
Het |
Clasp1 |
T |
A |
1: 118,390,257 (GRCm39) |
I147N |
possibly damaging |
Het |
Cmtm3 |
A |
T |
8: 105,067,358 (GRCm39) |
|
probably benign |
Het |
Cmtm3 |
G |
T |
8: 105,067,359 (GRCm39) |
|
probably benign |
Het |
Col15a1 |
A |
T |
4: 47,293,364 (GRCm39) |
|
probably null |
Het |
Csn3 |
A |
G |
5: 88,077,872 (GRCm39) |
N126S |
probably benign |
Het |
Dcp2 |
C |
T |
18: 44,538,361 (GRCm39) |
R173C |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,170,691 (GRCm39) |
H729Q |
possibly damaging |
Het |
Dop1a |
C |
T |
9: 86,425,093 (GRCm39) |
H2138Y |
probably damaging |
Het |
Fbxo2 |
T |
C |
4: 148,248,616 (GRCm39) |
L36P |
unknown |
Het |
Gzmg |
T |
A |
14: 56,395,812 (GRCm39) |
Y49F |
probably benign |
Het |
H2bc3 |
A |
G |
13: 23,930,940 (GRCm39) |
I55V |
possibly damaging |
Het |
Hivep1 |
A |
G |
13: 42,313,213 (GRCm39) |
T1818A |
probably benign |
Het |
Ipmk |
T |
C |
10: 71,212,550 (GRCm39) |
S171P |
possibly damaging |
Het |
Milr1 |
T |
A |
11: 106,657,805 (GRCm39) |
Y239N |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,553,102 (GRCm39) |
N4397S |
probably benign |
Het |
Nell1 |
C |
A |
7: 49,712,387 (GRCm39) |
S69* |
probably null |
Het |
Nme8 |
A |
G |
13: 19,859,918 (GRCm39) |
V234A |
probably benign |
Het |
Notch2 |
A |
G |
3: 98,054,668 (GRCm39) |
S2444G |
probably damaging |
Het |
Odad3 |
T |
A |
9: 21,913,628 (GRCm39) |
H48L |
possibly damaging |
Het |
Or5p75-ps1 |
A |
T |
7: 108,108,155 (GRCm39) |
K297N |
unknown |
Het |
Or7g35 |
T |
A |
9: 19,495,968 (GRCm39) |
I45K |
probably damaging |
Het |
Pex5l |
T |
C |
3: 33,136,401 (GRCm39) |
|
probably benign |
Het |
Pgm3 |
A |
T |
9: 86,443,938 (GRCm39) |
L322H |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,326,730 (GRCm39) |
F221L |
probably damaging |
Het |
Prkaa2 |
A |
G |
4: 104,909,195 (GRCm39) |
I83T |
probably benign |
Het |
R3hdml |
A |
G |
2: 163,334,526 (GRCm39) |
T39A |
probably benign |
Het |
Ralgds |
A |
G |
2: 28,435,184 (GRCm39) |
M447V |
probably benign |
Het |
Rgs2 |
T |
C |
1: 143,878,783 (GRCm39) |
D40G |
probably damaging |
Het |
Robo3 |
T |
C |
9: 37,329,789 (GRCm39) |
M1176V |
probably benign |
Het |
Rpap1 |
G |
A |
2: 119,613,519 (GRCm39) |
|
probably benign |
Het |
Skic3 |
A |
T |
13: 76,278,447 (GRCm39) |
|
probably benign |
Het |
Slc26a8 |
T |
C |
17: 28,857,560 (GRCm39) |
D861G |
possibly damaging |
Het |
Slc4a8 |
A |
T |
15: 100,698,469 (GRCm39) |
I705F |
probably benign |
Het |
Slco3a1 |
C |
T |
7: 73,946,996 (GRCm39) |
V576I |
probably damaging |
Het |
Socs7 |
A |
G |
11: 97,253,973 (GRCm39) |
D169G |
possibly damaging |
Het |
Tanc1 |
T |
C |
2: 59,637,933 (GRCm39) |
V878A |
probably benign |
Het |
Thop1 |
C |
T |
10: 80,916,001 (GRCm39) |
R395W |
probably damaging |
Het |
Tpp2 |
T |
A |
1: 44,017,897 (GRCm39) |
H765Q |
probably benign |
Het |
Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
Vmn1r233 |
T |
A |
17: 21,214,069 (GRCm39) |
M294L |
possibly damaging |
Het |
Vmn1r27 |
T |
C |
6: 58,192,867 (GRCm39) |
T46A |
probably benign |
Het |
Vmn2r28 |
A |
G |
7: 5,483,747 (GRCm39) |
S818P |
probably damaging |
Het |
Vmn2r97 |
T |
A |
17: 19,149,333 (GRCm39) |
N240K |
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,430,850 (GRCm39) |
|
probably benign |
Het |
Zfp667 |
A |
G |
7: 6,308,321 (GRCm39) |
M330V |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,916,071 (GRCm39) |
Y725C |
probably damaging |
Het |
Zhx3 |
C |
T |
2: 160,624,020 (GRCm39) |
S49N |
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 |
|
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 |
X0021:Pramel22
|
UTSW |
4 |
143,382,318 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCCCAGAGATATGAGACATAGAC -3'
(R):5'- GCCCAATATGCTGTTCCCAG -3'
Sequencing Primer
(F):5'- TAGACCAAGATTCTACACGGCTC -3'
(R):5'- CAATATGCTGTTCCCAGTGTTG -3'
|
Posted On |
2022-05-16 |