Incidental Mutation 'R4115:Pramel21'
| ID |
314578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel21
|
| Ensembl Gene |
ENSMUSG00000066688 |
| Gene Name |
PRAME like 21 |
| Synonyms |
Gm13083 |
| MMRRC Submission |
041630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4115 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143341573-143345165 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143344026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 442
(D442G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105773]
|
| AlphaFold |
A2AGW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105773
AA Change: D442G
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000101399
Gene: ENSMUSG00000066688
AA Change: D442G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
223 |
431 |
7e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
| Aplp2 |
C |
T |
9: 31,069,122 (GRCm39) |
R569Q |
probably benign |
Het |
| BC035044 |
C |
T |
6: 128,867,813 (GRCm39) |
|
probably benign |
Het |
| Camta2 |
T |
C |
11: 70,567,300 (GRCm39) |
M626V |
possibly damaging |
Het |
| Cdh20 |
G |
A |
1: 110,066,039 (GRCm39) |
R771Q |
probably benign |
Het |
| Chd3 |
T |
G |
11: 69,248,343 (GRCm39) |
I850L |
possibly damaging |
Het |
| Cspg4 |
T |
A |
9: 56,805,678 (GRCm39) |
L2163Q |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,165,003 (GRCm39) |
D328G |
possibly damaging |
Het |
| Dcun1d3 |
T |
C |
7: 119,458,957 (GRCm39) |
N26S |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,354,272 (GRCm39) |
Y391* |
probably null |
Het |
| Gnl3 |
T |
G |
14: 30,738,813 (GRCm39) |
K79Q |
probably damaging |
Het |
| Hat1 |
A |
G |
2: 71,271,566 (GRCm39) |
T380A |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,815,506 (GRCm39) |
L1527* |
probably null |
Het |
| Ighv11-1 |
A |
G |
12: 113,945,685 (GRCm39) |
V56A |
probably benign |
Het |
| Ism2 |
A |
G |
12: 87,333,805 (GRCm39) |
I80T |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,980,260 (GRCm39) |
E823V |
probably damaging |
Het |
| Letm2 |
T |
A |
8: 26,070,343 (GRCm39) |
K432* |
probably null |
Het |
| LTO1 |
G |
A |
7: 144,473,383 (GRCm39) |
V142M |
possibly damaging |
Het |
| Mc4r |
T |
A |
18: 66,993,050 (GRCm39) |
Y21F |
probably benign |
Het |
| Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
| Mycbpap |
C |
A |
11: 94,403,051 (GRCm39) |
|
probably null |
Het |
| Nfkbil1 |
A |
G |
17: 35,440,286 (GRCm39) |
M129T |
probably damaging |
Het |
| Notch3 |
C |
A |
17: 32,377,407 (GRCm39) |
C223F |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,613,109 (GRCm39) |
V606A |
possibly damaging |
Het |
| Nudcd2 |
T |
C |
11: 40,627,434 (GRCm39) |
M118T |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,797 (GRCm39) |
L115Q |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,410,783 (GRCm39) |
D1870N |
unknown |
Het |
| Pde3b |
T |
C |
7: 114,120,962 (GRCm39) |
F696L |
probably damaging |
Het |
| Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
| Pgm1 |
C |
T |
4: 99,819,348 (GRCm39) |
Q191* |
probably null |
Het |
| Psg20 |
A |
G |
7: 18,419,905 (GRCm39) |
S5P |
probably damaging |
Het |
| Reps1 |
C |
T |
10: 17,979,955 (GRCm39) |
P397S |
possibly damaging |
Het |
| Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
| Spata13 |
G |
T |
14: 60,929,927 (GRCm39) |
G168V |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,067,923 (GRCm39) |
W2117R |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,090,995 (GRCm39) |
E1399K |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,299 (GRCm39) |
L607S |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,809,921 (GRCm39) |
W1106R |
probably damaging |
Het |
| Tssk3 |
T |
C |
4: 129,383,300 (GRCm39) |
Y124C |
probably damaging |
Het |
| Ugt2b1 |
A |
G |
5: 87,074,273 (GRCm39) |
W29R |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,148,332 (GRCm39) |
F76L |
probably benign |
Het |
|
| Other mutations in Pramel21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02052:Pramel21
|
APN |
4 |
143,341,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02390:Pramel21
|
APN |
4 |
143,341,895 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02676:Pramel21
|
APN |
4 |
143,342,667 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03381:Pramel21
|
APN |
4 |
143,343,625 (GRCm39) |
splice site |
probably benign |
|
|
IGL03410:Pramel21
|
APN |
4 |
143,341,851 (GRCm39) |
missense |
probably benign |
0.02 |
|
H8562:Pramel21
|
UTSW |
4 |
143,341,920 (GRCm39) |
splice site |
probably benign |
|
|
PIT4151001:Pramel21
|
UTSW |
4 |
143,342,722 (GRCm39) |
nonsense |
probably null |
|
|
R0157:Pramel21
|
UTSW |
4 |
143,342,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0352:Pramel21
|
UTSW |
4 |
143,342,559 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0494:Pramel21
|
UTSW |
4 |
143,342,726 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0688:Pramel21
|
UTSW |
4 |
143,343,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0884:Pramel21
|
UTSW |
4 |
143,341,754 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1267:Pramel21
|
UTSW |
4 |
143,342,304 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1418:Pramel21
|
UTSW |
4 |
143,342,604 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1761:Pramel21
|
UTSW |
4 |
143,342,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3148:Pramel21
|
UTSW |
4 |
143,344,047 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4063:Pramel21
|
UTSW |
4 |
143,342,559 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4760:Pramel21
|
UTSW |
4 |
143,343,801 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5516:Pramel21
|
UTSW |
4 |
143,342,253 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5603:Pramel21
|
UTSW |
4 |
143,344,066 (GRCm39) |
nonsense |
probably null |
|
|
R5724:Pramel21
|
UTSW |
4 |
143,344,026 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5796:Pramel21
|
UTSW |
4 |
143,341,778 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5879:Pramel21
|
UTSW |
4 |
143,344,161 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6181:Pramel21
|
UTSW |
4 |
143,342,828 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7155:Pramel21
|
UTSW |
4 |
143,342,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7492:Pramel21
|
UTSW |
4 |
143,342,744 (GRCm39) |
missense |
not run |
|
|
R7913:Pramel21
|
UTSW |
4 |
143,341,615 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7995:Pramel21
|
UTSW |
4 |
143,342,570 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8126:Pramel21
|
UTSW |
4 |
143,343,635 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8901:Pramel21
|
UTSW |
4 |
143,343,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9061:Pramel21
|
UTSW |
4 |
143,342,741 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9095:Pramel21
|
UTSW |
4 |
143,341,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9170:Pramel21
|
UTSW |
4 |
143,341,600 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9445:Pramel21
|
UTSW |
4 |
143,343,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9666:Pramel21
|
UTSW |
4 |
143,341,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Pramel21
|
UTSW |
4 |
143,341,802 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1177:Pramel21
|
UTSW |
4 |
143,342,730 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGACTGGCAAATCAGTGAC -3'
(R):5'- ATGCCAATAATGAGCCACTTGAG -3'
Sequencing Primer
(F):5'- TGGCAAATCAGTGACCTCCTG -3'
(R):5'- CCATTTGTCAGAGCCTAGCAATG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation