Incidental Mutation 'R5318:Pramel51'
| ID |
405942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel51
|
| Ensembl Gene |
ENSMUSG00000066027 |
| Gene Name |
PRAME like 51 |
| Synonyms |
Gm10436 |
| MMRRC Submission |
042901-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R5318 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
88142359-88148664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88142998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 207
(C207S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071580]
[ENSMUST00000220521]
[ENSMUST00000222081]
[ENSMUST00000223172]
|
| AlphaFold |
L7N1Y3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071580
AA Change: C402S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: C402S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
247 |
445 |
5e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220521
AA Change: C207S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221884
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222081
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223172
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
G |
A |
17: 35,878,883 (GRCm39) |
E74K |
possibly damaging |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,282,754 (GRCm39) |
S298P |
probably damaging |
Het |
| Arfgef2 |
A |
C |
2: 166,715,891 (GRCm39) |
K1393N |
probably damaging |
Het |
| Atp4a |
T |
A |
7: 30,414,754 (GRCm39) |
V181E |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,371,961 (GRCm39) |
D134G |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,128,425 (GRCm39) |
T359A |
possibly damaging |
Het |
| Cblb |
A |
T |
16: 52,006,561 (GRCm39) |
K754N |
possibly damaging |
Het |
| Ccdc153 |
A |
T |
9: 44,157,062 (GRCm39) |
R135* |
probably null |
Het |
| Cel |
T |
C |
2: 28,447,720 (GRCm39) |
E398G |
possibly damaging |
Het |
| Clip1 |
G |
A |
5: 123,751,147 (GRCm39) |
|
probably benign |
Het |
| Dnase2b |
C |
A |
3: 146,288,210 (GRCm39) |
R295L |
probably benign |
Het |
| Dnm3 |
G |
A |
1: 161,839,376 (GRCm39) |
Q194* |
probably null |
Het |
| Dtx2 |
T |
A |
5: 136,040,954 (GRCm39) |
S120T |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 16,287,925 (GRCm39) |
S533T |
probably damaging |
Het |
| Foxred2 |
T |
C |
15: 77,836,598 (GRCm39) |
I306V |
probably benign |
Het |
| Gdpd5 |
A |
T |
7: 99,102,234 (GRCm39) |
T278S |
probably benign |
Het |
| Gli2 |
T |
A |
1: 118,772,200 (GRCm39) |
T502S |
probably damaging |
Het |
| Gm21830 |
A |
T |
2: 67,263,158 (GRCm39) |
|
probably null |
Het |
| Gm5617 |
T |
A |
9: 48,407,211 (GRCm39) |
I115N |
possibly damaging |
Het |
| Gpr75 |
G |
T |
11: 30,842,459 (GRCm39) |
A455S |
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,587,929 (GRCm39) |
E683G |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,916 (GRCm39) |
I877V |
probably damaging |
Het |
| Gsg1l2 |
G |
T |
11: 67,673,347 (GRCm39) |
C109F |
possibly damaging |
Het |
| H2-Q4 |
G |
A |
17: 35,602,287 (GRCm39) |
V341I |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Kif5c |
A |
G |
2: 49,561,840 (GRCm39) |
K68R |
probably benign |
Het |
| Lct |
T |
A |
1: 128,232,109 (GRCm39) |
H580L |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,495 (GRCm39) |
I302M |
probably damaging |
Het |
| Mef2b |
A |
T |
8: 70,619,493 (GRCm39) |
R228W |
probably damaging |
Het |
| Mtus2 |
T |
A |
5: 148,013,382 (GRCm39) |
D58E |
probably benign |
Het |
| Myh15 |
T |
G |
16: 48,930,834 (GRCm39) |
S603A |
probably damaging |
Het |
| Or1x2 |
T |
C |
11: 50,918,420 (GRCm39) |
V197A |
probably benign |
Het |
| Or8d1 |
C |
T |
9: 38,766,744 (GRCm39) |
P129S |
probably damaging |
Het |
| Or8s2 |
A |
G |
15: 98,276,523 (GRCm39) |
I156T |
possibly damaging |
Het |
| P2rx4 |
G |
A |
5: 122,857,211 (GRCm39) |
C149Y |
probably null |
Het |
| Proca1 |
T |
A |
11: 78,092,683 (GRCm39) |
V43E |
possibly damaging |
Het |
| Rftn1 |
G |
T |
17: 50,301,486 (GRCm39) |
N454K |
probably benign |
Het |
| Rrp15 |
T |
C |
1: 186,453,743 (GRCm39) |
T235A |
probably benign |
Het |
| Serpina6 |
T |
C |
12: 103,620,221 (GRCm39) |
E176G |
possibly damaging |
Het |
| Shprh |
T |
G |
10: 11,042,301 (GRCm39) |
I761M |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,759,427 (GRCm39) |
|
probably benign |
Het |
| Snupn |
T |
C |
9: 56,864,345 (GRCm39) |
S15P |
probably damaging |
Het |
| Tbc1d15 |
A |
T |
10: 115,044,874 (GRCm39) |
Y509* |
probably null |
Het |
| Tcf4 |
T |
C |
18: 69,598,501 (GRCm39) |
V72A |
probably benign |
Het |
| Tdrd3 |
T |
C |
14: 87,714,899 (GRCm39) |
|
probably null |
Het |
| Tm9sf4 |
T |
A |
2: 153,029,576 (GRCm39) |
V175D |
probably benign |
Het |
| Vmn1r201 |
T |
C |
13: 22,659,092 (GRCm39) |
L102P |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,800,300 (GRCm39) |
N1788I |
possibly damaging |
Het |
| Xpc |
A |
C |
6: 91,469,992 (GRCm39) |
V744G |
probably damaging |
Het |
| Xrcc6 |
T |
C |
15: 81,921,708 (GRCm39) |
F178L |
probably damaging |
Het |
| Zbed6 |
A |
G |
1: 133,585,853 (GRCm39) |
S495P |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,317,624 (GRCm39) |
V1196A |
probably benign |
Het |
|
| Other mutations in Pramel51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Pramel51
|
APN |
12 |
88,143,882 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01391:Pramel51
|
APN |
12 |
88,145,225 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01432:Pramel51
|
APN |
12 |
88,143,202 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01519:Pramel51
|
APN |
12 |
88,144,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01784:Pramel51
|
APN |
12 |
88,143,085 (GRCm39) |
missense |
probably benign |
|
|
IGL02121:Pramel51
|
APN |
12 |
88,145,242 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02728:Pramel51
|
APN |
12 |
88,142,792 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0336:Pramel51
|
UTSW |
12 |
88,144,961 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0554:Pramel51
|
UTSW |
12 |
88,144,328 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1279:Pramel51
|
UTSW |
12 |
88,142,650 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1832:Pramel51
|
UTSW |
12 |
88,145,218 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1833:Pramel51
|
UTSW |
12 |
88,145,218 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1900:Pramel51
|
UTSW |
12 |
88,144,030 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2412:Pramel51
|
UTSW |
12 |
88,143,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3040:Pramel51
|
UTSW |
12 |
88,145,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3625:Pramel51
|
UTSW |
12 |
88,142,731 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4078:Pramel51
|
UTSW |
12 |
88,142,683 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4270:Pramel51
|
UTSW |
12 |
88,145,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4271:Pramel51
|
UTSW |
12 |
88,145,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5552:Pramel51
|
UTSW |
12 |
88,145,135 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5601:Pramel51
|
UTSW |
12 |
88,142,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5881:Pramel51
|
UTSW |
12 |
88,143,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Pramel51
|
UTSW |
12 |
88,142,683 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6058:Pramel51
|
UTSW |
12 |
88,143,995 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6488:Pramel51
|
UTSW |
12 |
88,144,357 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6656:Pramel51
|
UTSW |
12 |
88,142,763 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7307:Pramel51
|
UTSW |
12 |
88,148,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7332:Pramel51
|
UTSW |
12 |
88,143,187 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7544:Pramel51
|
UTSW |
12 |
88,142,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7569:Pramel51
|
UTSW |
12 |
88,143,085 (GRCm39) |
missense |
probably benign |
|
|
R7645:Pramel51
|
UTSW |
12 |
88,143,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Pramel51
|
UTSW |
12 |
88,142,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Pramel51
|
UTSW |
12 |
88,142,853 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7860:Pramel51
|
UTSW |
12 |
88,143,122 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8113:Pramel51
|
UTSW |
12 |
88,143,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8356:Pramel51
|
UTSW |
12 |
88,143,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8456:Pramel51
|
UTSW |
12 |
88,143,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8921:Pramel51
|
UTSW |
12 |
88,143,952 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8953:Pramel51
|
UTSW |
12 |
88,144,070 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9112:Pramel51
|
UTSW |
12 |
88,144,055 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9546:Pramel51
|
UTSW |
12 |
88,148,651 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTATATCCAGGAGCTCAGGAC -3'
(R):5'- ACCTCTCACAGTCAGACTTGG -3'
Sequencing Primer
(F):5'- GTCATCATAGCACTCTATAGGGGC -3'
(R):5'- ACAGTCAGACTTGGATTGCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation