Incidental Mutation 'R4639:Pramel20'
| ID |
350823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel20
|
| Ensembl Gene |
ENSMUSG00000070618 |
| Gene Name |
PRAME like 20 |
| Synonyms |
BC080695 |
| MMRRC Submission |
041901-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R4639 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143294045-143300368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 143298467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 137
(R137C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105765]
[ENSMUST00000105774]
|
| AlphaFold |
Q66JY9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105765
AA Change: R137C
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101391
Gene: ENSMUSG00000070618
AA Change: R137C
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
210 |
414 |
5e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105774
AA Change: R137C
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101400
Gene: ENSMUSG00000070618
AA Change: R137C
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
210 |
414 |
5e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Atad2b |
A |
C |
12: 5,068,053 (GRCm39) |
H1017P |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,813,317 (GRCm39) |
V943D |
probably benign |
Het |
| Babam1 |
C |
T |
8: 71,856,951 (GRCm39) |
A304V |
probably damaging |
Het |
| Cdk5rap2 |
G |
T |
4: 70,220,413 (GRCm39) |
A584D |
probably damaging |
Het |
| Ddx21 |
A |
T |
10: 62,427,616 (GRCm39) |
L429* |
probably null |
Het |
| Dsp |
T |
C |
13: 38,380,760 (GRCm39) |
Y2502H |
probably damaging |
Het |
| Eaf1 |
G |
A |
14: 31,226,333 (GRCm39) |
D206N |
probably benign |
Het |
| Fam43b |
T |
A |
4: 138,123,278 (GRCm39) |
D14V |
possibly damaging |
Het |
| Fanca |
T |
A |
8: 124,044,889 (GRCm39) |
K34I |
probably damaging |
Het |
| Fzd4 |
T |
C |
7: 89,056,525 (GRCm39) |
Y191H |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm10479 |
A |
G |
12: 20,483,343 (GRCm39) |
T55A |
probably damaging |
Het |
| Gsr |
T |
G |
8: 34,187,284 (GRCm39) |
I488M |
probably damaging |
Het |
| Mrs2 |
A |
G |
13: 25,185,767 (GRCm39) |
I135T |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,232,377 (GRCm39) |
M517T |
possibly damaging |
Het |
| Naip1 |
C |
G |
13: 100,580,791 (GRCm39) |
G152A |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nat10 |
G |
A |
2: 103,565,234 (GRCm39) |
T449I |
probably benign |
Het |
| Nin |
A |
G |
12: 70,085,375 (GRCm39) |
S1619P |
probably damaging |
Het |
| Or14c45 |
G |
A |
7: 86,175,969 (GRCm39) |
M1I |
probably null |
Het |
| Or5m9b |
A |
G |
2: 85,905,923 (GRCm39) |
I280V |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,479,439 (GRCm39) |
T448A |
probably benign |
Het |
| Pcolce2 |
A |
G |
9: 95,519,930 (GRCm39) |
|
probably null |
Het |
| Pnp |
C |
T |
14: 51,188,380 (GRCm39) |
R207* |
probably null |
Het |
| Ppl |
A |
G |
16: 4,907,310 (GRCm39) |
V995A |
probably damaging |
Het |
| Ppp2r2a |
G |
A |
14: 67,276,406 (GRCm39) |
T33I |
probably damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Rgs16 |
G |
T |
1: 153,617,781 (GRCm39) |
C97F |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,444,717 (GRCm39) |
D2254E |
probably benign |
Het |
| Slc6a17 |
T |
C |
3: 107,381,597 (GRCm39) |
M495V |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,082,724 (GRCm39) |
I1967V |
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tcp11l2 |
A |
G |
10: 84,420,800 (GRCm39) |
D13G |
probably damaging |
Het |
| Vmn1r167 |
T |
C |
7: 23,205,011 (GRCm39) |
I2V |
probably benign |
Het |
| Vwa5a |
T |
C |
9: 38,638,410 (GRCm39) |
|
probably null |
Het |
| Wdr95 |
T |
C |
5: 149,505,279 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pramel20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02118:Pramel20
|
APN |
4 |
143,297,726 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02533:Pramel20
|
APN |
4 |
143,297,572 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0352:Pramel20
|
UTSW |
4 |
143,297,878 (GRCm39) |
splice site |
probably benign |
|
|
R1600:Pramel20
|
UTSW |
4 |
143,298,537 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3121:Pramel20
|
UTSW |
4 |
143,297,583 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4005:Pramel20
|
UTSW |
4 |
143,298,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4477:Pramel20
|
UTSW |
4 |
143,297,732 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4791:Pramel20
|
UTSW |
4 |
143,297,559 (GRCm39) |
start gained |
probably benign |
|
|
R5118:Pramel20
|
UTSW |
4 |
143,297,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5353:Pramel20
|
UTSW |
4 |
143,297,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5861:Pramel20
|
UTSW |
4 |
143,297,810 (GRCm39) |
missense |
probably benign |
|
|
R6163:Pramel20
|
UTSW |
4 |
143,298,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6286:Pramel20
|
UTSW |
4 |
143,297,796 (GRCm39) |
missense |
probably benign |
|
|
R6958:Pramel20
|
UTSW |
4 |
143,297,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7391:Pramel20
|
UTSW |
4 |
143,298,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7625:Pramel20
|
UTSW |
4 |
143,298,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8189:Pramel20
|
UTSW |
4 |
143,298,530 (GRCm39) |
missense |
probably benign |
|
|
R8190:Pramel20
|
UTSW |
4 |
143,298,530 (GRCm39) |
missense |
probably benign |
|
|
R8192:Pramel20
|
UTSW |
4 |
143,298,530 (GRCm39) |
missense |
probably benign |
|
|
R8219:Pramel20
|
UTSW |
4 |
143,298,530 (GRCm39) |
missense |
probably benign |
|
|
R8221:Pramel20
|
UTSW |
4 |
143,298,530 (GRCm39) |
missense |
probably benign |
|
|
R8223:Pramel20
|
UTSW |
4 |
143,298,530 (GRCm39) |
missense |
probably benign |
|
|
R8226:Pramel20
|
UTSW |
4 |
143,298,530 (GRCm39) |
missense |
probably benign |
|
|
R9005:Pramel20
|
UTSW |
4 |
143,298,425 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9150:Pramel20
|
UTSW |
4 |
143,298,531 (GRCm39) |
missense |
probably benign |
|
|
R9295:Pramel20
|
UTSW |
4 |
143,298,704 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9307:Pramel20
|
UTSW |
4 |
143,299,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9691:Pramel20
|
UTSW |
4 |
143,299,328 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Pramel20
|
UTSW |
4 |
143,298,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTGACAAGAAAGATGCC -3'
(R):5'- TGCAATTCCAACTCCTCAATGC -3'
Sequencing Primer
(F):5'- TGCCTAGAAAAAGCTGGCTAATG -3'
(R):5'- CCAACTCCTCAATGCAATATGGTTGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation