Incidental Mutation 'R5041:Pramel25'
ID |
393206 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel25
|
Ensembl Gene |
ENSMUSG00000066031 |
Gene Name |
PRAME like 25 |
Synonyms |
MGC:91194, Gm13023 |
MMRRC Submission |
042631-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R5041 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
143515922-143522145 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143520260 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 4
(V4A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085144]
[ENSMUST00000105770]
[ENSMUST00000149739]
|
AlphaFold |
A2A8N2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085144
AA Change: V168A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000082232 Gene: ENSMUSG00000066031 AA Change: V168A
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
222 |
420 |
3e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105770
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139978
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149739
AA Change: V4A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
A |
G |
16: 56,550,711 (GRCm39) |
F667S |
probably benign |
Het |
Akna |
A |
G |
4: 63,305,381 (GRCm39) |
Y462H |
possibly damaging |
Het |
Anxa11 |
G |
T |
14: 25,875,188 (GRCm39) |
E278* |
probably null |
Het |
Ap3s2 |
T |
C |
7: 79,570,267 (GRCm39) |
Y20C |
probably benign |
Het |
Atxn7 |
T |
C |
14: 14,096,317 (GRCm38) |
|
probably null |
Het |
AW551984 |
T |
C |
9: 39,511,894 (GRCm39) |
Y39C |
probably damaging |
Het |
Becn1 |
A |
T |
11: 101,179,662 (GRCm39) |
S442T |
probably benign |
Het |
Bhlhe40 |
C |
T |
6: 108,639,546 (GRCm39) |
T108I |
probably damaging |
Het |
Cnst |
A |
G |
1: 179,432,593 (GRCm39) |
D252G |
probably damaging |
Het |
Cpxm1 |
A |
G |
2: 130,235,990 (GRCm39) |
S391P |
probably damaging |
Het |
Ctnna2 |
T |
A |
6: 76,892,746 (GRCm39) |
N814Y |
probably damaging |
Het |
Ddx3y |
T |
A |
Y: 1,266,611 (GRCm39) |
Y282F |
probably benign |
Het |
Ddx56 |
A |
G |
11: 6,214,178 (GRCm39) |
V357A |
probably damaging |
Het |
Frmpd1 |
T |
G |
4: 45,278,878 (GRCm39) |
C534W |
probably damaging |
Het |
Gimap8 |
A |
G |
6: 48,636,097 (GRCm39) |
N621D |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,336,327 (GRCm39) |
I1624N |
possibly damaging |
Het |
Htr7 |
A |
C |
19: 36,034,467 (GRCm39) |
W63G |
probably benign |
Het |
Ly6g6c |
T |
A |
17: 35,284,428 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
C |
4: 123,290,839 (GRCm39) |
|
probably null |
Het |
Mfrp |
A |
G |
9: 44,013,575 (GRCm39) |
D62G |
probably damaging |
Het |
Ncam1 |
T |
C |
9: 49,478,085 (GRCm39) |
Y173C |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,431,683 (GRCm39) |
V1185A |
possibly damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,265 (GRCm39) |
C168* |
probably null |
Het |
Or51h7 |
T |
C |
7: 102,591,785 (GRCm39) |
|
probably null |
Het |
Pcf11 |
G |
A |
7: 92,307,613 (GRCm39) |
P852S |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,327,071 (GRCm39) |
I63V |
probably benign |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Rubcnl |
T |
C |
14: 75,287,572 (GRCm39) |
F619L |
probably damaging |
Het |
Sec24d |
A |
T |
3: 123,087,880 (GRCm39) |
Q247L |
probably damaging |
Het |
Spmap2l |
A |
G |
5: 77,203,928 (GRCm39) |
T319A |
probably benign |
Het |
Spns3 |
G |
T |
11: 72,427,373 (GRCm39) |
Q306K |
possibly damaging |
Het |
Sstr1 |
T |
C |
12: 58,259,941 (GRCm39) |
V188A |
possibly damaging |
Het |
Supt5 |
A |
T |
7: 28,014,805 (GRCm39) |
L1024Q |
probably damaging |
Het |
Tent4b |
CCCAACAACGCCAACAA |
CCCAACAA |
8: 88,981,878 (GRCm39) |
|
probably benign |
Het |
Unc13b |
T |
A |
4: 43,237,836 (GRCm39) |
H3452Q |
probably benign |
Het |
Usp28 |
A |
G |
9: 48,949,073 (GRCm39) |
Q864R |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,247,806 (GRCm39) |
T786A |
probably damaging |
Het |
Yy1 |
TCACCACCACCACCACCACCACCACCACC |
TCACCACCACCACCACCACCACCACCACCACC |
12: 108,759,557 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pramel25 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00905:Pramel25
|
APN |
4 |
143,521,844 (GRCm39) |
missense |
probably benign |
0.43 |
IGL01621:Pramel25
|
APN |
4 |
143,520,502 (GRCm39) |
missense |
probably benign |
|
IGL01777:Pramel25
|
APN |
4 |
143,521,688 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02075:Pramel25
|
APN |
4 |
143,521,602 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02098:Pramel25
|
APN |
4 |
143,520,248 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02148:Pramel25
|
APN |
4 |
143,519,304 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02355:Pramel25
|
APN |
4 |
143,519,580 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02362:Pramel25
|
APN |
4 |
143,519,580 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02828:Pramel25
|
APN |
4 |
143,521,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03102:Pramel25
|
APN |
4 |
143,520,116 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL03234:Pramel25
|
APN |
4 |
143,521,506 (GRCm39) |
missense |
probably benign |
0.33 |
BB004:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
BB014:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
K3955:Pramel25
|
UTSW |
4 |
143,521,710 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0054:Pramel25
|
UTSW |
4 |
143,521,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R0637:Pramel25
|
UTSW |
4 |
143,520,479 (GRCm39) |
missense |
probably benign |
0.35 |
R1227:Pramel25
|
UTSW |
4 |
143,520,134 (GRCm39) |
missense |
probably benign |
0.00 |
R1370:Pramel25
|
UTSW |
4 |
143,521,874 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1709:Pramel25
|
UTSW |
4 |
143,520,116 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1982:Pramel25
|
UTSW |
4 |
143,521,720 (GRCm39) |
missense |
probably benign |
0.02 |
R2292:Pramel25
|
UTSW |
4 |
143,520,446 (GRCm39) |
missense |
probably benign |
0.08 |
R3087:Pramel25
|
UTSW |
4 |
143,520,416 (GRCm39) |
missense |
probably benign |
0.25 |
R4235:Pramel25
|
UTSW |
4 |
143,521,344 (GRCm39) |
missense |
probably damaging |
0.97 |
R4454:Pramel25
|
UTSW |
4 |
143,519,394 (GRCm39) |
missense |
probably benign |
0.00 |
R4504:Pramel25
|
UTSW |
4 |
143,520,553 (GRCm39) |
missense |
probably benign |
0.08 |
R4937:Pramel25
|
UTSW |
4 |
143,520,407 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5379:Pramel25
|
UTSW |
4 |
143,521,493 (GRCm39) |
missense |
probably benign |
0.00 |
R5399:Pramel25
|
UTSW |
4 |
143,521,602 (GRCm39) |
missense |
probably benign |
0.00 |
R5445:Pramel25
|
UTSW |
4 |
143,521,707 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6059:Pramel25
|
UTSW |
4 |
143,520,550 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6885:Pramel25
|
UTSW |
4 |
143,520,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R7846:Pramel25
|
UTSW |
4 |
143,520,563 (GRCm39) |
missense |
probably benign |
0.02 |
R7927:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
R8285:Pramel25
|
UTSW |
4 |
143,520,636 (GRCm39) |
missense |
probably benign |
0.02 |
R8840:Pramel25
|
UTSW |
4 |
143,521,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R8849:Pramel25
|
UTSW |
4 |
143,521,596 (GRCm39) |
missense |
probably damaging |
0.99 |
R8921:Pramel25
|
UTSW |
4 |
143,519,322 (GRCm39) |
nonsense |
probably null |
|
R9128:Pramel25
|
UTSW |
4 |
143,520,178 (GRCm39) |
missense |
probably benign |
0.00 |
R9232:Pramel25
|
UTSW |
4 |
143,520,263 (GRCm39) |
missense |
probably benign |
0.01 |
R9643:Pramel25
|
UTSW |
4 |
143,521,855 (GRCm39) |
nonsense |
probably null |
|
R9674:Pramel25
|
UTSW |
4 |
143,520,162 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Pramel25
|
UTSW |
4 |
143,521,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGGGGTTTAATTCTAGGCAAAGG -3'
(R):5'- GCTCCTGTATACAGTCTGCG -3'
Sequencing Primer
(F):5'- GAATCAGAGTGTAAGATGTGTCTTC -3'
(R):5'- CCTGTATACAGTCTGCGTGTACAG -3'
|
Posted On |
2016-06-15 |