Incidental Mutation 'R4492:Cyp2d22'
| ID |
330804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2d22
|
| Ensembl Gene |
ENSMUSG00000061740 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 22 |
| Synonyms |
2D22 |
| MMRRC Submission |
041581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R4492 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82370527-82380260 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 82374370 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 97
(H97Y)
|
| 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: H97Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023083
Gene: ENSMUSG00000061740
AA Change: H97Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
|
Pfam:p450
|
37 |
497 |
8.1e-139 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228986
AA Change: H70Y
|
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
T |
G |
10: 89,725,814 (GRCm38) |
I157L |
probably benign |
Het |
| Amph |
T |
C |
13: 19,149,758 (GRCm38) |
V663A |
possibly damaging |
Het |
| Anapc16 |
A |
G |
10: 59,990,902 (GRCm38) |
S50P |
possibly damaging |
Het |
| Ank3 |
T |
A |
10: 69,808,925 (GRCm38) |
V60D |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,527,571 (GRCm38) |
Y94H |
probably damaging |
Het |
| Chil3 |
A |
G |
3: 106,155,701 (GRCm38) |
I191T |
probably damaging |
Het |
| Clpb |
T |
C |
7: 101,787,722 (GRCm38) |
L668P |
probably damaging |
Het |
| Dhrs7 |
A |
T |
12: 72,653,125 (GRCm38) |
N244K |
probably damaging |
Het |
| Dusp4 |
C |
T |
8: 34,807,736 (GRCm38) |
T3M |
possibly damaging |
Het |
| Edc4 |
GGATTTTAGCCA |
G |
8: 105,885,068 (GRCm38) |
|
probably null |
Het |
| Etl4 |
G |
A |
2: 20,806,865 (GRCm38) |
S1621N |
possibly damaging |
Het |
| Fam174a |
T |
C |
1: 95,313,976 (GRCm38) |
S54P |
probably benign |
Het |
| Fdxacb1 |
T |
C |
9: 50,770,247 (GRCm38) |
F7S |
probably damaging |
Het |
| Focad |
G |
A |
4: 88,359,905 (GRCm38) |
|
probably null |
Het |
| Gpr156 |
T |
A |
16: 37,992,106 (GRCm38) |
L268H |
probably damaging |
Het |
| Gpr17 |
A |
T |
18: 31,947,251 (GRCm38) |
I253N |
possibly damaging |
Het |
| H2-T23 |
A |
T |
17: 36,032,166 (GRCm38) |
N106K |
probably damaging |
Het |
| Hspa4 |
T |
C |
11: 53,280,469 (GRCm38) |
R303G |
probably damaging |
Het |
| Irgm1 |
G |
A |
11: 48,866,128 (GRCm38) |
|
silent |
Het |
| Jph1 |
A |
C |
1: 16,997,546 (GRCm38) |
I114S |
probably damaging |
Het |
| Kcna1 |
C |
T |
6: 126,642,275 (GRCm38) |
D361N |
possibly damaging |
Het |
| Kcna4 |
G |
A |
2: 107,296,091 (GRCm38) |
R390Q |
probably damaging |
Het |
| Lum |
C |
A |
10: 97,568,438 (GRCm38) |
P65H |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,859,640 (GRCm38) |
L134P |
probably benign |
Het |
| Mroh8 |
A |
T |
2: 157,258,040 (GRCm38) |
I248N |
probably damaging |
Het |
| Nos2 |
A |
G |
11: 78,950,095 (GRCm38) |
T677A |
probably benign |
Het |
| Nup37 |
T |
A |
10: 88,174,929 (GRCm38) |
F257I |
possibly damaging |
Het |
| Olfr231 |
C |
T |
1: 174,117,204 (GRCm38) |
V271I |
probably benign |
Het |
| Olfr273 |
T |
C |
4: 52,855,764 (GRCm38) |
I250V |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,385,637 (GRCm38) |
D1016N |
possibly damaging |
Het |
| Pdzd2 |
A |
C |
15: 12,419,481 (GRCm38) |
M501R |
possibly damaging |
Het |
| Pitx1 |
T |
C |
13: 55,828,652 (GRCm38) |
K65E |
probably benign |
Het |
| Pla1a |
C |
T |
16: 38,409,610 (GRCm38) |
A247T |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,162,263 (GRCm38) |
S851R |
probably benign |
Het |
| Prss8 |
A |
G |
7: 127,929,807 (GRCm38) |
S26P |
probably damaging |
Het |
| Rasef |
A |
C |
4: 73,734,503 (GRCm38) |
L587R |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 16,977,683 (GRCm38) |
C1334S |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,579,923 (GRCm38) |
|
probably benign |
Het |
| Serpina6 |
A |
G |
12: 103,646,887 (GRCm38) |
W385R |
probably damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,979,343 (GRCm38) |
M249T |
probably benign |
Het |
| Srsf9 |
T |
A |
5: 115,332,592 (GRCm38) |
I117N |
probably damaging |
Het |
| Taf1 |
G |
T |
X: 101,543,059 (GRCm38) |
M313I |
possibly damaging |
Het |
| Tmem30a |
T |
C |
9: 79,777,285 (GRCm38) |
H95R |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,941,280 (GRCm38) |
V139A |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,630,000 (GRCm38) |
V1012D |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,089,297 (GRCm38) |
Q379K |
probably damaging |
Het |
| Zfp930 |
C |
T |
8: 69,228,246 (GRCm38) |
Q198* |
probably null |
Het |
|
| Other mutations in Cyp2d22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:Cyp2d22
|
APN |
15 |
82,371,668 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01750:Cyp2d22
|
APN |
15 |
82,374,369 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL01801:Cyp2d22
|
APN |
15 |
82,372,845 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL02449:Cyp2d22
|
APN |
15 |
82,373,241 (GRCm38) |
missense |
probably benign |
0.00 |
|
ANU22:Cyp2d22
|
UTSW |
15 |
82,371,668 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0165:Cyp2d22
|
UTSW |
15 |
82,373,280 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0294:Cyp2d22
|
UTSW |
15 |
82,374,445 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1381:Cyp2d22
|
UTSW |
15 |
82,372,508 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1479:Cyp2d22
|
UTSW |
15 |
82,371,936 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1562:Cyp2d22
|
UTSW |
15 |
82,373,978 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1968:Cyp2d22
|
UTSW |
15 |
82,373,172 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1972:Cyp2d22
|
UTSW |
15 |
82,375,827 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4575:Cyp2d22
|
UTSW |
15 |
82,371,932 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4702:Cyp2d22
|
UTSW |
15 |
82,375,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4703:Cyp2d22
|
UTSW |
15 |
82,375,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5344:Cyp2d22
|
UTSW |
15 |
82,371,638 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5523:Cyp2d22
|
UTSW |
15 |
82,372,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5888:Cyp2d22
|
UTSW |
15 |
82,373,813 (GRCm38) |
missense |
probably benign |
|
|
R6060:Cyp2d22
|
UTSW |
15 |
82,375,885 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6108:Cyp2d22
|
UTSW |
15 |
82,371,905 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R6146:Cyp2d22
|
UTSW |
15 |
82,373,835 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6279:Cyp2d22
|
UTSW |
15 |
82,373,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6563:Cyp2d22
|
UTSW |
15 |
82,371,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7597:Cyp2d22
|
UTSW |
15 |
82,375,852 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7709:Cyp2d22
|
UTSW |
15 |
82,374,411 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7839:Cyp2d22
|
UTSW |
15 |
82,372,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8094:Cyp2d22
|
UTSW |
15 |
82,374,355 (GRCm38) |
missense |
probably benign |
0.19 |
|
R8302:Cyp2d22
|
UTSW |
15 |
82,371,820 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8515:Cyp2d22
|
UTSW |
15 |
82,373,912 (GRCm38) |
missense |
probably benign |
0.27 |
|
R9245:Cyp2d22
|
UTSW |
15 |
82,372,547 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9323:Cyp2d22
|
UTSW |
15 |
82,374,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9521:Cyp2d22
|
UTSW |
15 |
82,372,487 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1186:Cyp2d22
|
UTSW |
15 |
82,375,885 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1190:Cyp2d22
|
UTSW |
15 |
82,375,885 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCATCACTACTGTAAGATCC -3'
(R):5'- TGCCAAGTCCTATCCGGTAC -3'
Sequencing Primer
(F):5'- ATCACTACTGTAAGATCCTCTGTC -3'
(R):5'- AGTCCTATCCGGTACAGCTAAGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation