Incidental Mutation 'R2080:Cyp2a4'
ID |
229414 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2a4
|
Ensembl Gene |
ENSMUSG00000074254 |
Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 4 |
Synonyms |
Cyp15a1, D7Ucla4, testosterone 15alpha-hydroxylase |
MMRRC Submission |
040085-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R2080 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
26006617-26014513 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 26007962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 123
(R123Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096254
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098657]
|
AlphaFold |
P15392 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098657
AA Change: R123Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000096254 Gene: ENSMUSG00000074254 AA Change: R123Q
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
Pfam:p450
|
34 |
491 |
8.9e-151 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206226
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
T |
5: 88,119,792 (GRCm39) |
D183V |
probably damaging |
Het |
Ambra1 |
T |
A |
2: 91,716,064 (GRCm39) |
D858E |
probably damaging |
Het |
Amdhd2 |
T |
C |
17: 24,375,578 (GRCm39) |
T370A |
probably benign |
Het |
Amy1 |
A |
G |
3: 113,351,743 (GRCm39) |
W449R |
probably benign |
Het |
Aox3 |
A |
T |
1: 58,225,439 (GRCm39) |
I1179F |
probably benign |
Het |
Atp10a |
C |
A |
7: 58,474,075 (GRCm39) |
Q1121K |
probably damaging |
Het |
Btaf1 |
C |
T |
19: 36,928,548 (GRCm39) |
A123V |
probably benign |
Het |
Car6 |
T |
C |
4: 150,282,598 (GRCm39) |
K16E |
probably benign |
Het |
Cgnl1 |
C |
T |
9: 71,563,378 (GRCm39) |
D779N |
probably benign |
Het |
D430041D05Rik |
C |
T |
2: 103,987,161 (GRCm39) |
R1895Q |
probably damaging |
Het |
D5Ertd579e |
T |
A |
5: 36,773,550 (GRCm39) |
T282S |
probably benign |
Het |
Dsel |
T |
C |
1: 111,787,692 (GRCm39) |
T948A |
probably benign |
Het |
Ednrb |
A |
T |
14: 104,080,536 (GRCm39) |
I126N |
probably damaging |
Het |
Egln1 |
A |
G |
8: 125,675,045 (GRCm39) |
M250T |
probably benign |
Het |
Epb41l3 |
A |
T |
17: 69,560,463 (GRCm39) |
I337L |
possibly damaging |
Het |
Epg5 |
T |
C |
18: 77,991,960 (GRCm39) |
I219T |
probably benign |
Het |
Gm13030 |
T |
C |
4: 138,600,730 (GRCm39) |
|
probably benign |
Het |
Gm1527 |
T |
A |
3: 28,980,810 (GRCm39) |
C637S |
probably benign |
Het |
H1f1 |
A |
G |
13: 23,947,932 (GRCm39) |
N78S |
possibly damaging |
Het |
Insrr |
T |
C |
3: 87,721,598 (GRCm39) |
I1168T |
possibly damaging |
Het |
Ireb2 |
T |
C |
9: 54,803,836 (GRCm39) |
V509A |
possibly damaging |
Het |
Kmt2c |
T |
C |
5: 25,559,715 (GRCm39) |
D981G |
probably damaging |
Het |
Ktn1 |
A |
G |
14: 47,963,417 (GRCm39) |
E1164G |
probably damaging |
Het |
L3hypdh |
A |
T |
12: 72,126,301 (GRCm39) |
V213E |
probably damaging |
Het |
Masp1 |
T |
G |
16: 23,310,709 (GRCm39) |
D241A |
probably damaging |
Het |
Mfsd13b |
A |
G |
7: 120,591,047 (GRCm39) |
I1V |
probably null |
Het |
Muc5b |
T |
C |
7: 141,423,491 (GRCm39) |
V4531A |
probably benign |
Het |
Myh2 |
A |
T |
11: 67,065,767 (GRCm39) |
|
probably null |
Het |
Naip5 |
A |
G |
13: 100,358,041 (GRCm39) |
L1065P |
probably damaging |
Het |
Necab1 |
T |
C |
4: 15,140,219 (GRCm39) |
|
probably benign |
Het |
Nemf |
A |
G |
12: 69,400,560 (GRCm39) |
|
probably benign |
Het |
Nfil3 |
A |
T |
13: 53,122,069 (GRCm39) |
D278E |
possibly damaging |
Het |
Nup98 |
T |
C |
7: 101,829,631 (GRCm39) |
N393S |
probably damaging |
Het |
Ogdh |
T |
A |
11: 6,299,393 (GRCm39) |
M753K |
probably benign |
Het |
Or13c3 |
T |
C |
4: 52,855,568 (GRCm39) |
Y315C |
probably benign |
Het |
Or2b6 |
A |
T |
13: 21,823,606 (GRCm39) |
V29E |
probably damaging |
Het |
Or4k47 |
C |
T |
2: 111,452,084 (GRCm39) |
V112M |
probably benign |
Het |
Or51f5 |
T |
C |
7: 102,424,450 (GRCm39) |
F240L |
probably benign |
Het |
Or8b42 |
T |
A |
9: 38,342,378 (GRCm39) |
S267T |
probably benign |
Het |
Pkd2 |
A |
G |
5: 104,624,989 (GRCm39) |
K262E |
probably benign |
Het |
Plce1 |
C |
T |
19: 38,715,457 (GRCm39) |
|
probably benign |
Het |
Ppm1f |
T |
A |
16: 16,741,744 (GRCm39) |
M406K |
possibly damaging |
Het |
Ptgs1 |
C |
T |
2: 36,132,859 (GRCm39) |
Q286* |
probably null |
Het |
Scube2 |
T |
C |
7: 109,407,712 (GRCm39) |
T743A |
possibly damaging |
Het |
Tipin |
T |
A |
9: 64,197,658 (GRCm39) |
L69* |
probably null |
Het |
Tlk1 |
T |
A |
2: 70,568,789 (GRCm39) |
K404N |
probably damaging |
Het |
Tmem59 |
C |
A |
4: 107,035,971 (GRCm39) |
L16I |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,612,826 (GRCm39) |
E426G |
probably benign |
Het |
Xdh |
A |
T |
17: 74,216,320 (GRCm39) |
S709T |
probably damaging |
Het |
Yjefn3 |
T |
C |
8: 70,342,137 (GRCm39) |
N28D |
probably damaging |
Het |
Zfp598 |
A |
C |
17: 24,898,641 (GRCm39) |
D480A |
probably damaging |
Het |
|
Other mutations in Cyp2a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01533:Cyp2a4
|
APN |
7 |
26,007,969 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01609:Cyp2a4
|
APN |
7 |
26,008,088 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01959:Cyp2a4
|
APN |
7 |
26,007,133 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02282:Cyp2a4
|
APN |
7 |
26,008,472 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03053:Cyp2a4
|
APN |
7 |
26,012,975 (GRCm39) |
splice site |
probably benign |
|
IGL03168:Cyp2a4
|
APN |
7 |
26,012,975 (GRCm39) |
splice site |
probably benign |
|
R0393:Cyp2a4
|
UTSW |
7 |
26,012,293 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0453:Cyp2a4
|
UTSW |
7 |
26,012,258 (GRCm39) |
missense |
probably benign |
0.22 |
R0825:Cyp2a4
|
UTSW |
7 |
26,012,341 (GRCm39) |
missense |
probably benign |
0.07 |
R0948:Cyp2a4
|
UTSW |
7 |
26,010,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R1215:Cyp2a4
|
UTSW |
7 |
26,014,226 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1222:Cyp2a4
|
UTSW |
7 |
26,008,013 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1374:Cyp2a4
|
UTSW |
7 |
26,012,348 (GRCm39) |
missense |
probably damaging |
0.99 |
R1473:Cyp2a4
|
UTSW |
7 |
26,014,188 (GRCm39) |
missense |
probably benign |
|
R1580:Cyp2a4
|
UTSW |
7 |
26,007,076 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1768:Cyp2a4
|
UTSW |
7 |
26,012,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1832:Cyp2a4
|
UTSW |
7 |
26,011,635 (GRCm39) |
missense |
probably damaging |
0.99 |
R1911:Cyp2a4
|
UTSW |
7 |
26,008,399 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2086:Cyp2a4
|
UTSW |
7 |
26,011,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R2259:Cyp2a4
|
UTSW |
7 |
26,008,460 (GRCm39) |
missense |
probably damaging |
0.99 |
R2877:Cyp2a4
|
UTSW |
7 |
26,011,612 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2878:Cyp2a4
|
UTSW |
7 |
26,011,612 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3732:Cyp2a4
|
UTSW |
7 |
26,012,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Cyp2a4
|
UTSW |
7 |
26,012,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R3733:Cyp2a4
|
UTSW |
7 |
26,012,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R3734:Cyp2a4
|
UTSW |
7 |
26,012,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R3741:Cyp2a4
|
UTSW |
7 |
26,007,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R4079:Cyp2a4
|
UTSW |
7 |
26,006,791 (GRCm39) |
missense |
probably benign |
0.22 |
R4297:Cyp2a4
|
UTSW |
7 |
26,006,793 (GRCm39) |
missense |
probably damaging |
0.96 |
R4785:Cyp2a4
|
UTSW |
7 |
26,012,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R4998:Cyp2a4
|
UTSW |
7 |
26,006,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R5297:Cyp2a4
|
UTSW |
7 |
26,011,629 (GRCm39) |
missense |
probably benign |
0.07 |
R5893:Cyp2a4
|
UTSW |
7 |
26,008,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R5942:Cyp2a4
|
UTSW |
7 |
26,010,129 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6262:Cyp2a4
|
UTSW |
7 |
26,011,655 (GRCm39) |
missense |
probably damaging |
0.99 |
R6612:Cyp2a4
|
UTSW |
7 |
26,008,072 (GRCm39) |
missense |
probably benign |
0.00 |
R6722:Cyp2a4
|
UTSW |
7 |
26,012,983 (GRCm39) |
missense |
probably benign |
0.04 |
R7064:Cyp2a4
|
UTSW |
7 |
26,011,732 (GRCm39) |
missense |
probably benign |
0.02 |
R7419:Cyp2a4
|
UTSW |
7 |
26,014,188 (GRCm39) |
missense |
probably benign |
0.00 |
R7562:Cyp2a4
|
UTSW |
7 |
26,012,321 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8231:Cyp2a4
|
UTSW |
7 |
26,012,362 (GRCm39) |
missense |
probably benign |
0.00 |
R8750:Cyp2a4
|
UTSW |
7 |
26,012,209 (GRCm39) |
missense |
probably benign |
0.00 |
R8789:Cyp2a4
|
UTSW |
7 |
26,007,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R9129:Cyp2a4
|
UTSW |
7 |
26,014,136 (GRCm39) |
missense |
probably benign |
0.01 |
R9502:Cyp2a4
|
UTSW |
7 |
26,008,004 (GRCm39) |
missense |
probably benign |
0.01 |
R9523:Cyp2a4
|
UTSW |
7 |
26,011,688 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cyp2a4
|
UTSW |
7 |
26,010,266 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cyp2a4
|
UTSW |
7 |
26,006,748 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCGCCACCAGATCTCTTCAG -3'
(R):5'- ATCCCTTGGTAGGTCCTGAG -3'
Sequencing Primer
(F):5'- ACCAGATCTCTTCAGTCTCCTG -3'
(R):5'- TCCTGAGAACTTGCGGTGC -3'
|
Posted On |
2014-09-17 |