Incidental Mutation 'R3040:Pyroxd2'
| ID |
264934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pyroxd2
|
| Ensembl Gene |
ENSMUSG00000060224 |
| Gene Name |
pyridine nucleotide-disulphide oxidoreductase domain 2 |
| Synonyms |
4833409A17Rik, 3830409H07Rik |
| MMRRC Submission |
040556-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R3040 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
42714297-42741214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 42723957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 323
(Q323K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076505]
|
| AlphaFold |
Q3U4I7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076505
AA Change: Q323K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075825
Gene: ENSMUSG00000060224
AA Change: Q323K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_8
|
39 |
97 |
3.5e-11 |
PFAM |
|
Pfam:Amino_oxidase
|
46 |
423 |
2.7e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
A |
C |
9: 14,484,069 (GRCm39) |
V498G |
probably benign |
Het |
| Ampd2 |
A |
G |
3: 107,983,732 (GRCm39) |
Y602H |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Ccar1 |
G |
T |
10: 62,592,273 (GRCm39) |
H760N |
possibly damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,086,570 (GRCm39) |
N319S |
probably benign |
Het |
| Dcdc2c |
G |
C |
12: 28,602,181 (GRCm39) |
A41G |
probably damaging |
Het |
| Dzip3 |
G |
A |
16: 48,748,687 (GRCm39) |
S1083F |
probably damaging |
Het |
| Etfdh |
C |
T |
3: 79,512,226 (GRCm39) |
R498Q |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,226,459 (GRCm39) |
C772S |
probably damaging |
Het |
| Gask1b |
T |
A |
3: 79,794,432 (GRCm39) |
I300N |
possibly damaging |
Het |
| Gdap2 |
T |
C |
3: 100,095,351 (GRCm39) |
|
probably null |
Het |
| Iqcj |
T |
C |
3: 67,962,675 (GRCm39) |
S79P |
probably damaging |
Het |
| Isg20l2 |
T |
C |
3: 87,839,302 (GRCm39) |
V171A |
probably benign |
Het |
| Kcna7 |
GGCTGCGCGGTGCCGCCCGAGCGGCCGCTGC |
GGCTGC |
7: 45,056,212 (GRCm39) |
|
probably null |
Het |
| Luc7l |
A |
T |
17: 26,496,593 (GRCm39) |
|
probably benign |
Het |
| Mepe |
T |
G |
5: 104,485,988 (GRCm39) |
L376R |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nedd4 |
T |
C |
9: 72,577,243 (GRCm39) |
F23L |
probably benign |
Het |
| Neurl1a |
T |
C |
19: 47,228,270 (GRCm39) |
S22P |
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,145,118 (GRCm39) |
S69R |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,476,317 (GRCm39) |
V470A |
probably benign |
Het |
| Slf2 |
A |
G |
19: 44,969,008 (GRCm39) |
D1157G |
probably damaging |
Het |
| Styxl1 |
C |
T |
5: 135,785,887 (GRCm39) |
A197T |
probably damaging |
Het |
| Tmem70 |
C |
T |
1: 16,737,989 (GRCm39) |
T100M |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,719,966 (GRCm39) |
V309A |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn1r122 |
G |
C |
7: 20,867,371 (GRCm39) |
P228R |
probably benign |
Het |
|
| Other mutations in Pyroxd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Pyroxd2
|
APN |
19 |
42,719,877 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01636:Pyroxd2
|
APN |
19 |
42,726,771 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02808:Pyroxd2
|
APN |
19 |
42,719,781 (GRCm39) |
missense |
probably benign |
|
|
IGL02831:Pyroxd2
|
APN |
19 |
42,724,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03179:Pyroxd2
|
APN |
19 |
42,736,001 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
PIT4486001:Pyroxd2
|
UTSW |
19 |
42,728,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0360:Pyroxd2
|
UTSW |
19 |
42,735,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0364:Pyroxd2
|
UTSW |
19 |
42,735,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0567:Pyroxd2
|
UTSW |
19 |
42,724,364 (GRCm39) |
missense |
probably benign |
|
|
R0690:Pyroxd2
|
UTSW |
19 |
42,716,081 (GRCm39) |
splice site |
probably benign |
|
|
R0843:Pyroxd2
|
UTSW |
19 |
42,735,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1649:Pyroxd2
|
UTSW |
19 |
42,726,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2032:Pyroxd2
|
UTSW |
19 |
42,716,088 (GRCm39) |
splice site |
probably benign |
|
|
R2087:Pyroxd2
|
UTSW |
19 |
42,722,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3898:Pyroxd2
|
UTSW |
19 |
42,728,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4746:Pyroxd2
|
UTSW |
19 |
42,740,839 (GRCm39) |
nonsense |
probably null |
|
|
R5394:Pyroxd2
|
UTSW |
19 |
42,728,898 (GRCm39) |
missense |
probably benign |
|
|
R5634:Pyroxd2
|
UTSW |
19 |
42,728,924 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5977:Pyroxd2
|
UTSW |
19 |
42,723,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6745:Pyroxd2
|
UTSW |
19 |
42,735,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7128:Pyroxd2
|
UTSW |
19 |
42,719,842 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7697:Pyroxd2
|
UTSW |
19 |
42,735,805 (GRCm39) |
missense |
probably benign |
|
|
R7707:Pyroxd2
|
UTSW |
19 |
42,726,586 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7769:Pyroxd2
|
UTSW |
19 |
42,736,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7878:Pyroxd2
|
UTSW |
19 |
42,731,104 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8204:Pyroxd2
|
UTSW |
19 |
42,737,827 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9374:Pyroxd2
|
UTSW |
19 |
42,719,756 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9551:Pyroxd2
|
UTSW |
19 |
42,719,756 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9552:Pyroxd2
|
UTSW |
19 |
42,719,756 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTCCAGCCTGGTGTAAC -3'
(R):5'- ACTTTTCAAGTTCACCAGTCAC -3'
Sequencing Primer
(F):5'- TGGTGTAACGTGCGCTCC -3'
(R):5'- AGTCACAAAGCCTCGCGTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation