Incidental Mutation 'R6197:Pramel23'
| ID |
502973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel23
|
| Ensembl Gene |
ENSMUSG00000070617 |
| Gene Name |
PRAME like 23 |
| Synonyms |
Gm13089 |
| MMRRC Submission |
044337-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6197 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143423070-143429281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143423886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 301
(Y301C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073532]
|
| AlphaFold |
A2AGW7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073532
AA Change: Y301C
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: Y301C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
343 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
92% (49/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
T |
A |
5: 3,630,442 (GRCm39) |
Y119* |
probably null |
Het |
| Abcb9 |
C |
A |
5: 124,209,812 (GRCm39) |
E664* |
probably null |
Het |
| Adgrl2 |
T |
C |
3: 148,564,578 (GRCm39) |
D334G |
probably damaging |
Het |
| Ak9 |
T |
G |
10: 41,193,826 (GRCm39) |
C57G |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,724,952 (GRCm39) |
K809E |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,896,099 (GRCm39) |
I223V |
probably benign |
Het |
| Cacna2d3 |
A |
T |
14: 28,630,278 (GRCm39) |
V1022E |
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
| Cd37 |
A |
G |
7: 44,886,598 (GRCm39) |
C85R |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,063,764 (GRCm39) |
S7G |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,611,188 (GRCm39) |
N561S |
probably benign |
Het |
| Cnbd2 |
A |
G |
2: 156,217,494 (GRCm39) |
E661G |
possibly damaging |
Het |
| Col6a3 |
A |
T |
1: 90,750,063 (GRCm39) |
F257Y |
probably damaging |
Het |
| Cpt1b |
T |
C |
15: 89,309,037 (GRCm39) |
Y55C |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 15,976,611 (GRCm39) |
V2869A |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,143,482 (GRCm39) |
E387G |
probably benign |
Het |
| Eny2 |
T |
A |
15: 44,292,949 (GRCm39) |
|
probably null |
Het |
| Fbxo10 |
G |
T |
4: 45,043,857 (GRCm39) |
H655Q |
probably benign |
Het |
| Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
| Gpx2 |
C |
T |
12: 76,842,068 (GRCm39) |
G28S |
probably damaging |
Het |
| H2-Q5 |
G |
T |
17: 35,613,918 (GRCm39) |
A156S |
probably benign |
Het |
| Hoxd4 |
A |
G |
2: 74,558,807 (GRCm39) |
D210G |
possibly damaging |
Het |
| Hoxd9 |
A |
G |
2: 74,529,166 (GRCm39) |
Q256R |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,346,085 (GRCm39) |
V2571A |
probably damaging |
Het |
| Mtus1 |
A |
G |
8: 41,537,074 (GRCm39) |
V214A |
possibly damaging |
Het |
| Myh1 |
C |
T |
11: 67,111,793 (GRCm39) |
A1716V |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,261,287 (GRCm39) |
D249G |
probably damaging |
Het |
| Nup54 |
TCTGCTGCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTGCTGCTG |
5: 92,578,663 (GRCm39) |
|
probably benign |
Het |
| Or10v9 |
G |
T |
19: 11,833,148 (GRCm39) |
H56Q |
probably damaging |
Het |
| Or4c124 |
A |
T |
2: 89,155,677 (GRCm39) |
N282K |
probably damaging |
Het |
| Or5w17 |
C |
T |
2: 87,583,696 (GRCm39) |
V214I |
probably benign |
Het |
| Or7a37 |
T |
G |
10: 78,805,974 (GRCm39) |
L164V |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Prss59 |
A |
G |
6: 40,897,939 (GRCm39) |
I248T |
probably benign |
Het |
| Pwwp2a |
A |
G |
11: 43,595,423 (GRCm39) |
D196G |
probably benign |
Het |
| Rarg |
A |
T |
15: 102,150,327 (GRCm39) |
C93S |
possibly damaging |
Het |
| Rcc1 |
T |
C |
4: 132,065,073 (GRCm39) |
D150G |
possibly damaging |
Het |
| Ripk2 |
A |
G |
4: 16,163,330 (GRCm39) |
Y23H |
probably damaging |
Het |
| Rragc |
A |
G |
4: 123,811,340 (GRCm39) |
Y5C |
possibly damaging |
Het |
| Rubcnl |
G |
A |
14: 75,269,369 (GRCm39) |
G9D |
probably damaging |
Het |
| Sephs2 |
A |
T |
7: 126,872,073 (GRCm39) |
V340E |
probably damaging |
Het |
| Slc22a3 |
C |
T |
17: 12,677,438 (GRCm39) |
M243I |
probably benign |
Het |
| Slco6c1 |
A |
G |
1: 97,000,518 (GRCm39) |
|
probably null |
Het |
| Sncaip |
T |
G |
18: 53,039,966 (GRCm39) |
I308R |
probably damaging |
Het |
| Supt16 |
G |
A |
14: 52,408,338 (GRCm39) |
T869M |
probably damaging |
Het |
| Tanc1 |
G |
A |
2: 59,674,366 (GRCm39) |
E1817K |
possibly damaging |
Het |
| Usp4 |
C |
A |
9: 108,248,154 (GRCm39) |
Q395K |
probably damaging |
Het |
| Usp49 |
T |
A |
17: 47,984,272 (GRCm39) |
S210T |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,505,498 (GRCm39) |
I124M |
probably damaging |
Het |
| Vmn1r234 |
G |
A |
17: 21,449,589 (GRCm39) |
V168I |
probably benign |
Het |
| Vnn3 |
T |
A |
10: 23,732,187 (GRCm39) |
C146S |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,088,953 (GRCm39) |
D1234G |
probably damaging |
Het |
| Zfp617 |
T |
A |
8: 72,687,098 (GRCm39) |
V476E |
probably benign |
Het |
|
| Other mutations in Pramel23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01720:Pramel23
|
APN |
4 |
143,423,410 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02087:Pramel23
|
APN |
4 |
143,423,644 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02296:Pramel23
|
APN |
4 |
143,425,051 (GRCm39) |
nonsense |
probably null |
|
|
IGL02902:Pramel23
|
APN |
4 |
143,424,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02903:Pramel23
|
APN |
4 |
143,425,736 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02962:Pramel23
|
APN |
4 |
143,423,910 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03351:Pramel23
|
APN |
4 |
143,423,658 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0122:Pramel23
|
UTSW |
4 |
143,424,974 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0533:Pramel23
|
UTSW |
4 |
143,424,590 (GRCm39) |
nonsense |
probably null |
|
|
R0609:Pramel23
|
UTSW |
4 |
143,425,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0743:Pramel23
|
UTSW |
4 |
143,425,134 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0744:Pramel23
|
UTSW |
4 |
143,425,056 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0833:Pramel23
|
UTSW |
4 |
143,425,056 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1052:Pramel23
|
UTSW |
4 |
143,423,477 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1690:Pramel23
|
UTSW |
4 |
143,424,693 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1764:Pramel23
|
UTSW |
4 |
143,424,840 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1896:Pramel23
|
UTSW |
4 |
143,424,714 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2084:Pramel23
|
UTSW |
4 |
143,425,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2178:Pramel23
|
UTSW |
4 |
143,424,612 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2888:Pramel23
|
UTSW |
4 |
143,423,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3759:Pramel23
|
UTSW |
4 |
143,423,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Pramel23
|
UTSW |
4 |
143,424,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4380:Pramel23
|
UTSW |
4 |
143,424,856 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4385:Pramel23
|
UTSW |
4 |
143,424,584 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4513:Pramel23
|
UTSW |
4 |
143,424,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4647:Pramel23
|
UTSW |
4 |
143,425,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4920:Pramel23
|
UTSW |
4 |
143,425,853 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4994:Pramel23
|
UTSW |
4 |
143,424,939 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5197:Pramel23
|
UTSW |
4 |
143,424,632 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6005:Pramel23
|
UTSW |
4 |
143,425,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6073:Pramel23
|
UTSW |
4 |
143,424,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6264:Pramel23
|
UTSW |
4 |
143,425,722 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6821:Pramel23
|
UTSW |
4 |
143,425,874 (GRCm39) |
nonsense |
probably null |
|
|
R6923:Pramel23
|
UTSW |
4 |
143,425,676 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7034:Pramel23
|
UTSW |
4 |
143,423,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7140:Pramel23
|
UTSW |
4 |
143,425,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7298:Pramel23
|
UTSW |
4 |
143,425,075 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7529:Pramel23
|
UTSW |
4 |
143,429,244 (GRCm39) |
|
|
|
|
R7766:Pramel23
|
UTSW |
4 |
143,425,809 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7774:Pramel23
|
UTSW |
4 |
143,423,676 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7816:Pramel23
|
UTSW |
4 |
143,424,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8137:Pramel23
|
UTSW |
4 |
143,425,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Pramel23
|
UTSW |
4 |
143,423,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8982:Pramel23
|
UTSW |
4 |
143,424,886 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9016:Pramel23
|
UTSW |
4 |
143,423,899 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9100:Pramel23
|
UTSW |
4 |
143,425,727 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9200:Pramel23
|
UTSW |
4 |
143,423,856 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9257:Pramel23
|
UTSW |
4 |
143,425,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9471:Pramel23
|
UTSW |
4 |
143,423,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Pramel23
|
UTSW |
4 |
143,424,930 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1088:Pramel23
|
UTSW |
4 |
143,424,650 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Pramel23
|
UTSW |
4 |
143,423,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACACTGACTTATGGCAGGC -3'
(R):5'- CAACAGAAGGCCATGTCCAG -3'
Sequencing Primer
(F):5'- AGGCTGTTGAACTGAGATTCTCCC -3'
(R):5'- ATGTCCAGGGCAGGGTTGAC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation