Incidental Mutation 'IGL02449:Cyp2d22'
ID |
294075 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp2d22
|
Ensembl Gene |
ENSMUSG00000061740 |
Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 22 |
Synonyms |
2D22 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
IGL02449
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
82254728-82264461 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82257442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 241
(G241D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023083]
[ENSMUST00000228986]
|
AlphaFold |
Q9JKY7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023083
AA Change: G241D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000023083 Gene: ENSMUSG00000061740 AA Change: G241D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
Pfam:p450
|
37 |
497 |
8.1e-139 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228986
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229438
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229599
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230370
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230663
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,440,908 (GRCm39) |
|
probably null |
Het |
Akap6 |
A |
G |
12: 53,186,971 (GRCm39) |
T1462A |
probably damaging |
Het |
Arl6ip6 |
T |
C |
2: 53,082,538 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
A |
T |
10: 50,576,695 (GRCm39) |
Q883H |
probably benign |
Het |
Atp11a |
T |
A |
8: 12,807,358 (GRCm39) |
|
probably null |
Het |
Cds1 |
G |
A |
5: 101,963,794 (GRCm39) |
G371D |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,548,751 (GRCm39) |
L2198P |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,867,584 (GRCm39) |
|
probably benign |
Het |
Dera |
T |
A |
6: 137,757,815 (GRCm39) |
|
probably null |
Het |
Efcab6 |
A |
G |
15: 83,894,234 (GRCm39) |
V186A |
probably benign |
Het |
Gm9637 |
T |
A |
14: 19,402,436 (GRCm38) |
|
noncoding transcript |
Het |
Gpr180 |
T |
C |
14: 118,397,532 (GRCm39) |
L342P |
probably damaging |
Het |
Heg1 |
T |
C |
16: 33,559,095 (GRCm39) |
|
probably null |
Het |
Kcnab2 |
C |
A |
4: 152,496,441 (GRCm39) |
|
probably null |
Het |
Lax1 |
A |
G |
1: 133,607,874 (GRCm39) |
V289A |
probably damaging |
Het |
Ly6k |
T |
G |
15: 74,668,934 (GRCm39) |
D115A |
probably benign |
Het |
Mcc |
A |
C |
18: 44,593,025 (GRCm39) |
I670S |
probably benign |
Het |
Mpdz |
C |
A |
4: 81,247,659 (GRCm39) |
|
probably null |
Het |
Mrgprb8 |
T |
A |
7: 48,038,431 (GRCm39) |
L34* |
probably null |
Het |
Mtor |
T |
A |
4: 148,618,378 (GRCm39) |
H1730Q |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,576,503 (GRCm39) |
|
probably benign |
Het |
Myh8 |
T |
C |
11: 67,185,440 (GRCm39) |
|
probably null |
Het |
Naip5 |
A |
T |
13: 100,358,683 (GRCm39) |
V851E |
probably benign |
Het |
Neb |
T |
C |
2: 52,091,918 (GRCm39) |
I1277V |
probably benign |
Het |
Nlrp9a |
T |
C |
7: 26,264,396 (GRCm39) |
M683T |
probably benign |
Het |
Npr2 |
A |
G |
4: 43,646,641 (GRCm39) |
Y663C |
probably damaging |
Het |
Padi3 |
C |
T |
4: 140,517,023 (GRCm39) |
|
probably null |
Het |
Pclo |
A |
G |
5: 14,565,357 (GRCm39) |
D41G |
probably damaging |
Het |
Pds5a |
A |
T |
5: 65,776,353 (GRCm39) |
N80K |
probably damaging |
Het |
Plec |
C |
T |
15: 76,070,963 (GRCm39) |
D812N |
possibly damaging |
Het |
Psg20 |
A |
T |
7: 18,418,333 (GRCm39) |
|
probably benign |
Het |
Ptch2 |
C |
A |
4: 116,965,380 (GRCm39) |
L322I |
possibly damaging |
Het |
Ptprv |
T |
C |
1: 135,039,074 (GRCm39) |
|
noncoding transcript |
Het |
Scn2b |
A |
G |
9: 45,036,812 (GRCm39) |
K107E |
probably damaging |
Het |
Slc24a4 |
A |
C |
12: 102,193,341 (GRCm39) |
I226L |
probably benign |
Het |
Spink4 |
A |
G |
4: 40,929,190 (GRCm39) |
M72V |
probably benign |
Het |
Supt16 |
A |
T |
14: 52,411,263 (GRCm39) |
M676K |
possibly damaging |
Het |
Svep1 |
A |
C |
4: 58,070,296 (GRCm39) |
C2497G |
possibly damaging |
Het |
Tenm2 |
T |
A |
11: 35,914,449 (GRCm39) |
T2362S |
probably damaging |
Het |
Tgm3 |
G |
T |
2: 129,880,529 (GRCm39) |
|
probably null |
Het |
Trpa1 |
T |
A |
1: 14,968,381 (GRCm39) |
T462S |
probably damaging |
Het |
Ucp2 |
G |
A |
7: 100,148,017 (GRCm39) |
V237M |
probably damaging |
Het |
Vmn2r53 |
C |
A |
7: 12,316,288 (GRCm39) |
L510F |
probably damaging |
Het |
Zan |
G |
A |
5: 137,387,589 (GRCm39) |
T4874M |
unknown |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
Zfp974 |
T |
A |
7: 27,611,152 (GRCm39) |
Y191F |
probably benign |
Het |
|
Other mutations in Cyp2d22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01305:Cyp2d22
|
APN |
15 |
82,255,869 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01750:Cyp2d22
|
APN |
15 |
82,258,570 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01801:Cyp2d22
|
APN |
15 |
82,257,046 (GRCm39) |
missense |
probably benign |
0.41 |
ANU22:Cyp2d22
|
UTSW |
15 |
82,255,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R0165:Cyp2d22
|
UTSW |
15 |
82,257,481 (GRCm39) |
missense |
probably benign |
0.06 |
R0294:Cyp2d22
|
UTSW |
15 |
82,258,646 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1381:Cyp2d22
|
UTSW |
15 |
82,256,709 (GRCm39) |
missense |
probably benign |
0.00 |
R1479:Cyp2d22
|
UTSW |
15 |
82,256,137 (GRCm39) |
missense |
probably damaging |
0.97 |
R1562:Cyp2d22
|
UTSW |
15 |
82,258,179 (GRCm39) |
missense |
probably damaging |
0.99 |
R1968:Cyp2d22
|
UTSW |
15 |
82,257,373 (GRCm39) |
missense |
probably benign |
0.04 |
R1972:Cyp2d22
|
UTSW |
15 |
82,260,028 (GRCm39) |
missense |
probably benign |
0.11 |
R4492:Cyp2d22
|
UTSW |
15 |
82,258,571 (GRCm39) |
missense |
probably benign |
0.00 |
R4575:Cyp2d22
|
UTSW |
15 |
82,256,133 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4702:Cyp2d22
|
UTSW |
15 |
82,260,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R4703:Cyp2d22
|
UTSW |
15 |
82,260,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R5344:Cyp2d22
|
UTSW |
15 |
82,255,839 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5523:Cyp2d22
|
UTSW |
15 |
82,256,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R5888:Cyp2d22
|
UTSW |
15 |
82,258,014 (GRCm39) |
missense |
probably benign |
|
R6060:Cyp2d22
|
UTSW |
15 |
82,260,086 (GRCm39) |
missense |
probably benign |
0.00 |
R6108:Cyp2d22
|
UTSW |
15 |
82,256,106 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6146:Cyp2d22
|
UTSW |
15 |
82,258,036 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6279:Cyp2d22
|
UTSW |
15 |
82,258,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R6563:Cyp2d22
|
UTSW |
15 |
82,256,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7597:Cyp2d22
|
UTSW |
15 |
82,260,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R7709:Cyp2d22
|
UTSW |
15 |
82,258,612 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7839:Cyp2d22
|
UTSW |
15 |
82,256,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R8094:Cyp2d22
|
UTSW |
15 |
82,258,556 (GRCm39) |
missense |
probably benign |
0.19 |
R8302:Cyp2d22
|
UTSW |
15 |
82,256,021 (GRCm39) |
critical splice donor site |
probably null |
|
R8515:Cyp2d22
|
UTSW |
15 |
82,258,113 (GRCm39) |
missense |
probably benign |
0.27 |
R9245:Cyp2d22
|
UTSW |
15 |
82,256,748 (GRCm39) |
missense |
probably damaging |
0.97 |
R9323:Cyp2d22
|
UTSW |
15 |
82,258,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R9521:Cyp2d22
|
UTSW |
15 |
82,256,688 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Cyp2d22
|
UTSW |
15 |
82,260,086 (GRCm39) |
missense |
probably benign |
0.00 |
Z1190:Cyp2d22
|
UTSW |
15 |
82,260,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |