Incidental Mutation 'R3886:Pramel17'
| ID |
309642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel17
|
| Ensembl Gene |
ENSMUSG00000035201 |
| Gene Name |
PRAME like 17 |
| Synonyms |
B020004J07Rik |
| MMRRC Submission |
040798-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3886 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
101692166-101701219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101692920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 360
(K360R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084386]
[ENSMUST00000106919]
|
| AlphaFold |
Q3UTC0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084386
AA Change: K360R
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000081421
Gene: ENSMUSG00000035201
AA Change: K360R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
219 |
405 |
2e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106919
AA Change: K360R
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102532
Gene: ENSMUSG00000035201
AA Change: K360R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
219 |
405 |
2e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
| Adam17 |
G |
A |
12: 21,375,588 (GRCm39) |
R744C |
probably damaging |
Het |
| Adss2 |
A |
G |
1: 177,595,335 (GRCm39) |
Y402H |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,821,688 (GRCm39) |
T546S |
possibly damaging |
Het |
| Cd22 |
T |
C |
7: 30,569,532 (GRCm39) |
D354G |
possibly damaging |
Het |
| Chchd6 |
T |
C |
6: 89,444,433 (GRCm39) |
E183G |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,808,129 (GRCm39) |
L973P |
unknown |
Het |
| Cp |
T |
C |
3: 20,043,275 (GRCm39) |
L1021P |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,201,289 (GRCm39) |
V22E |
probably damaging |
Het |
| Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,119,633 (GRCm39) |
V1703A |
possibly damaging |
Het |
| Dennd1a |
T |
C |
2: 37,748,089 (GRCm39) |
N376S |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Ect2l |
C |
T |
10: 18,044,206 (GRCm39) |
V310M |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Gm8674 |
T |
C |
13: 50,056,199 (GRCm39) |
|
noncoding transcript |
Het |
| Ice1 |
T |
C |
13: 70,753,489 (GRCm39) |
T866A |
probably benign |
Het |
| Jade2 |
C |
T |
11: 51,721,326 (GRCm39) |
V201I |
possibly damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,780,639 (GRCm39) |
S504P |
probably damaging |
Het |
| Kcng4 |
T |
C |
8: 120,359,986 (GRCm39) |
K130R |
probably benign |
Het |
| Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrch2 |
C |
G |
X: 146,256,003 (GRCm39) |
A437P |
probably damaging |
Het |
| Lrrk1 |
C |
T |
7: 65,942,112 (GRCm39) |
V709I |
probably damaging |
Het |
| Mdh1 |
A |
G |
11: 21,509,832 (GRCm39) |
V181A |
probably damaging |
Het |
| Or10g7 |
A |
G |
9: 39,905,835 (GRCm39) |
H243R |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,358,076 (GRCm39) |
H226L |
possibly damaging |
Het |
| Ppp1r3a |
A |
C |
6: 14,719,911 (GRCm39) |
D334E |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm45 |
A |
G |
2: 76,205,768 (GRCm39) |
S207G |
probably benign |
Het |
| Relch |
A |
G |
1: 105,619,938 (GRCm39) |
N331S |
probably benign |
Het |
| Robo3 |
G |
A |
9: 37,333,477 (GRCm39) |
Q723* |
probably null |
Het |
| Rreb1 |
G |
A |
13: 38,082,482 (GRCm39) |
|
probably null |
Het |
| Slc35f2 |
T |
A |
9: 53,724,241 (GRCm39) |
S372T |
probably benign |
Het |
| Slitrk5 |
T |
A |
14: 111,917,229 (GRCm39) |
C284* |
probably null |
Het |
| Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
| Tent4b |
C |
A |
8: 88,927,043 (GRCm39) |
A151E |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,937,885 (GRCm39) |
D3896G |
probably damaging |
Het |
| Tti1 |
A |
G |
2: 157,850,870 (GRCm39) |
V123A |
possibly damaging |
Het |
| Usp1 |
T |
C |
4: 98,817,973 (GRCm39) |
C147R |
probably damaging |
Het |
| Vill |
A |
G |
9: 118,895,782 (GRCm39) |
N106S |
probably benign |
Het |
|
| Other mutations in Pramel17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01083:Pramel17
|
APN |
4 |
101,692,729 (GRCm39) |
missense |
probably benign |
|
|
IGL01615:Pramel17
|
APN |
4 |
101,694,201 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01765:Pramel17
|
APN |
4 |
101,695,049 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02228:Pramel17
|
APN |
4 |
101,694,055 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02276:Pramel17
|
APN |
4 |
101,695,306 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02548:Pramel17
|
APN |
4 |
101,692,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03226:Pramel17
|
APN |
4 |
101,692,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0124:Pramel17
|
UTSW |
4 |
101,692,570 (GRCm39) |
makesense |
probably null |
|
|
R0449:Pramel17
|
UTSW |
4 |
101,694,158 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0573:Pramel17
|
UTSW |
4 |
101,692,611 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1159:Pramel17
|
UTSW |
4 |
101,695,224 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1689:Pramel17
|
UTSW |
4 |
101,694,376 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1857:Pramel17
|
UTSW |
4 |
101,692,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Pramel17
|
UTSW |
4 |
101,694,135 (GRCm39) |
missense |
probably benign |
|
|
R2570:Pramel17
|
UTSW |
4 |
101,694,443 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4922:Pramel17
|
UTSW |
4 |
101,692,729 (GRCm39) |
missense |
probably benign |
|
|
R4984:Pramel17
|
UTSW |
4 |
101,692,796 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5503:Pramel17
|
UTSW |
4 |
101,692,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6230:Pramel17
|
UTSW |
4 |
101,694,411 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6831:Pramel17
|
UTSW |
4 |
101,694,094 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7172:Pramel17
|
UTSW |
4 |
101,694,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7201:Pramel17
|
UTSW |
4 |
101,695,338 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7220:Pramel17
|
UTSW |
4 |
101,694,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7253:Pramel17
|
UTSW |
4 |
101,692,725 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7545:Pramel17
|
UTSW |
4 |
101,695,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7567:Pramel17
|
UTSW |
4 |
101,694,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7763:Pramel17
|
UTSW |
4 |
101,694,338 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8003:Pramel17
|
UTSW |
4 |
101,693,130 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8005:Pramel17
|
UTSW |
4 |
101,694,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8836:Pramel17
|
UTSW |
4 |
101,693,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9125:Pramel17
|
UTSW |
4 |
101,694,073 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9332:Pramel17
|
UTSW |
4 |
101,695,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9545:Pramel17
|
UTSW |
4 |
101,693,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9733:Pramel17
|
UTSW |
4 |
101,692,965 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9775:Pramel17
|
UTSW |
4 |
101,694,244 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGAGCTCAGGACACAGTTGG -3'
(R):5'- CTCAATGTCCGACTTGAGACAC -3'
Sequencing Primer
(F):5'- GGACACAGTTGGAAAAATCTCTC -3'
(R):5'- TGTCCGACTTGAGACACATGTCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation