Incidental Mutation 'R9395:Pramel12'
| ID |
710776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel12
|
| Ensembl Gene |
ENSMUSG00000046862 |
| Gene Name |
PRAME like 12 |
| Synonyms |
Pramef8, 4732496O08Rik |
| MMRRC Submission |
068965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R9395 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143138996-143147661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143145605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 358
(E358G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037356]
[ENSMUST00000059790]
[ENSMUST00000132915]
[ENSMUST00000155157]
|
| AlphaFold |
Q8CE24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037356
AA Change: E358G
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: E358G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
205 |
410 |
3e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059790
AA Change: E358G
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: E358G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
205 |
410 |
3e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155157
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh7 |
A |
T |
3: 137,927,477 (GRCm39) |
I8F |
probably damaging |
Het |
| Ak1 |
A |
G |
2: 32,523,708 (GRCm39) |
D207G |
probably damaging |
Het |
| Arhgef28 |
TAA |
TA |
13: 98,103,692 (GRCm39) |
|
probably null |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Cgnl1 |
T |
C |
9: 71,539,954 (GRCm39) |
M1097V |
probably benign |
Het |
| Chrm2 |
G |
A |
6: 36,501,196 (GRCm39) |
G351D |
possibly damaging |
Het |
| Cntnap2 |
C |
A |
6: 45,978,244 (GRCm39) |
R300S |
probably damaging |
Het |
| Cpa5 |
T |
C |
6: 30,631,280 (GRCm39) |
L398P |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,595,020 (GRCm39) |
N15I |
probably damaging |
Het |
| Csrp3 |
A |
T |
7: 48,489,231 (GRCm39) |
V17D |
probably damaging |
Het |
| Cyb5d1 |
T |
C |
11: 69,284,531 (GRCm39) |
N207S |
probably benign |
Het |
| Ecel1 |
A |
T |
1: 87,082,350 (GRCm39) |
I121N |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,477,822 (GRCm39) |
S407P |
probably benign |
Het |
| Gad2 |
T |
C |
2: 22,514,879 (GRCm39) |
L119P |
probably damaging |
Het |
| Gpr139 |
A |
T |
7: 118,743,811 (GRCm39) |
M258K |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,285,009 (GRCm39) |
Y454C |
probably damaging |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,353,952 (GRCm39) |
I431N |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,274,584 (GRCm39) |
W1235R |
possibly damaging |
Het |
| Nacc2 |
A |
G |
2: 25,950,128 (GRCm39) |
V536A |
probably damaging |
Het |
| Nalf2 |
C |
T |
X: 98,889,097 (GRCm39) |
R321W |
probably damaging |
Het |
| Neu4 |
T |
A |
1: 93,950,218 (GRCm39) |
L59Q |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,946,871 (GRCm39) |
I4088F |
probably damaging |
Het |
| Or8b37 |
T |
C |
9: 37,959,136 (GRCm39) |
V206A |
probably damaging |
Het |
| Otof |
G |
A |
5: 30,532,976 (GRCm39) |
R1589C |
probably damaging |
Het |
| Pla2g3 |
C |
T |
11: 3,440,952 (GRCm39) |
Q306* |
probably null |
Het |
| Prl6a1 |
A |
T |
13: 27,499,400 (GRCm39) |
H56L |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,735,219 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
A |
15: 39,155,664 (GRCm39) |
F115Y |
probably damaging |
Het |
| Spcs2 |
T |
C |
7: 99,488,924 (GRCm39) |
T221A |
probably benign |
Het |
| Stmn1 |
C |
T |
4: 134,200,146 (GRCm39) |
A73V |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,261,728 (GRCm39) |
K2250I |
probably damaging |
Het |
| Tcf7l2 |
C |
T |
19: 55,920,200 (GRCm39) |
Q578* |
probably null |
Het |
| Tgtp2 |
A |
T |
11: 48,950,083 (GRCm39) |
M163K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,542,006 (GRCm39) |
N33660S |
probably benign |
Het |
| Txndc11 |
A |
G |
16: 10,902,683 (GRCm39) |
F655L |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,205,026 (GRCm39) |
T86I |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,693,783 (GRCm39) |
W378R |
probably damaging |
Het |
| Zic1 |
T |
A |
9: 91,247,070 (GRCm39) |
M1L |
probably benign |
Het |
|
| Other mutations in Pramel12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Pramel12
|
APN |
4 |
143,143,237 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL01483:Pramel12
|
APN |
4 |
143,144,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01800:Pramel12
|
APN |
4 |
143,145,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02063:Pramel12
|
APN |
4 |
143,144,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02216:Pramel12
|
APN |
4 |
143,144,298 (GRCm39) |
splice site |
probably null |
|
|
IGL02236:Pramel12
|
APN |
4 |
143,143,512 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03013:Pramel12
|
APN |
4 |
143,144,037 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0658:Pramel12
|
UTSW |
4 |
143,144,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1485:Pramel12
|
UTSW |
4 |
143,144,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2049:Pramel12
|
UTSW |
4 |
143,143,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2518:Pramel12
|
UTSW |
4 |
143,144,473 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3720:Pramel12
|
UTSW |
4 |
143,145,949 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3738:Pramel12
|
UTSW |
4 |
143,143,212 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R3961:Pramel12
|
UTSW |
4 |
143,145,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4583:Pramel12
|
UTSW |
4 |
143,143,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Pramel12
|
UTSW |
4 |
143,145,579 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5348:Pramel12
|
UTSW |
4 |
143,143,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5473:Pramel12
|
UTSW |
4 |
143,145,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5977:Pramel12
|
UTSW |
4 |
143,144,229 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6909:Pramel12
|
UTSW |
4 |
143,144,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7441:Pramel12
|
UTSW |
4 |
143,145,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7777:Pramel12
|
UTSW |
4 |
143,144,331 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8053:Pramel12
|
UTSW |
4 |
143,144,208 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8218:Pramel12
|
UTSW |
4 |
143,145,706 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8345:Pramel12
|
UTSW |
4 |
143,143,438 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8963:Pramel12
|
UTSW |
4 |
143,144,229 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9047:Pramel12
|
UTSW |
4 |
143,145,673 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9570:Pramel12
|
UTSW |
4 |
143,144,514 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGACTCTGTCCATCACCATG -3'
(R):5'- TCCCATAAGGACATCACCCGTG -3'
Sequencing Primer
(F):5'- TGTCCATCACCATGTGCAAG -3'
(R):5'- GTGTCATCATAGCACTCCAGAGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation