Incidental Mutation 'R0545:Cyp2c69'
| ID |
44799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c69
|
| Ensembl Gene |
ENSMUSG00000092008 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 69 |
| Synonyms |
AI098658 |
| MMRRC Submission |
038737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0545 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39831258-39875243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 39875105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 16
(L16R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168838]
|
| AlphaFold |
E9PXC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168838
AA Change: L16R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132832
Gene: ENSMUSG00000092008
AA Change: L16R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
7e-152 |
PFAM |
|
| Meta Mutation Damage Score |
0.4832 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
C |
T |
2: 19,547,187 (GRCm39) |
R76H |
probably damaging |
Het |
| Adnp2 |
T |
C |
18: 80,172,616 (GRCm39) |
I598V |
probably benign |
Het |
| Ago3 |
T |
C |
4: 126,311,025 (GRCm39) |
N63D |
probably damaging |
Het |
| Alkbh7 |
C |
T |
17: 57,306,012 (GRCm39) |
R138* |
probably null |
Het |
| Atp6ap1l |
T |
C |
13: 91,031,782 (GRCm39) |
H300R |
probably benign |
Het |
| BC051076 |
C |
T |
5: 88,111,349 (GRCm39) |
|
noncoding transcript |
Het |
| Bltp1 |
G |
A |
3: 37,041,839 (GRCm39) |
|
probably benign |
Het |
| Bpifb9a |
T |
A |
2: 154,103,870 (GRCm39) |
C104* |
probably null |
Het |
| Cacna2d2 |
T |
C |
9: 107,402,422 (GRCm39) |
L826P |
probably damaging |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,913,447 (GRCm39) |
D526G |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,167,070 (GRCm39) |
T1861S |
probably benign |
Het |
| Ces2f |
A |
C |
8: 105,676,668 (GRCm39) |
M121L |
possibly damaging |
Het |
| Cfap58 |
G |
A |
19: 47,929,536 (GRCm39) |
|
probably benign |
Het |
| Chpf2 |
T |
C |
5: 24,795,322 (GRCm39) |
S282P |
possibly damaging |
Het |
| Cluap1 |
C |
T |
16: 3,751,636 (GRCm39) |
R332W |
probably damaging |
Het |
| Cma2 |
A |
T |
14: 56,210,570 (GRCm39) |
M86L |
probably benign |
Het |
| Cog6 |
A |
T |
3: 52,903,496 (GRCm39) |
M134K |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,842,420 (GRCm39) |
D1446G |
unknown |
Het |
| Cpne8 |
T |
A |
15: 90,381,278 (GRCm39) |
D512V |
probably damaging |
Het |
| Ctnna2 |
T |
A |
6: 77,582,165 (GRCm39) |
N352I |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,076,443 (GRCm39) |
S603P |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,215,217 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
T |
C |
18: 32,378,955 (GRCm39) |
S270P |
probably damaging |
Het |
| F10 |
T |
A |
8: 13,098,249 (GRCm39) |
C151S |
probably damaging |
Het |
| Gpr180 |
T |
G |
14: 118,397,458 (GRCm39) |
H317Q |
possibly damaging |
Het |
| Gstp2 |
T |
C |
19: 4,091,633 (GRCm39) |
E32G |
possibly damaging |
Het |
| Ikzf5 |
T |
C |
7: 130,994,229 (GRCm39) |
T133A |
possibly damaging |
Het |
| Itch |
G |
T |
2: 155,024,218 (GRCm39) |
G274* |
probably null |
Het |
| Jarid2 |
T |
A |
13: 45,056,307 (GRCm39) |
N365K |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,694,758 (GRCm39) |
S1295T |
possibly damaging |
Het |
| Lipc |
A |
G |
9: 70,719,987 (GRCm39) |
L255P |
probably damaging |
Het |
| Lrrc38 |
A |
G |
4: 143,077,328 (GRCm39) |
D197G |
probably benign |
Het |
| Mfap2 |
A |
G |
4: 140,741,496 (GRCm39) |
|
probably benign |
Het |
| Mfhas1 |
A |
G |
8: 36,056,202 (GRCm39) |
K226E |
probably damaging |
Het |
| Morc1 |
A |
G |
16: 48,386,020 (GRCm39) |
R548G |
probably benign |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,633 (GRCm39) |
N34S |
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,497,276 (GRCm39) |
T182A |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,074,319 (GRCm39) |
F743L |
possibly damaging |
Het |
| Notch4 |
A |
C |
17: 34,802,407 (GRCm39) |
D1276A |
probably damaging |
Het |
| Or1e34 |
A |
T |
11: 73,778,843 (GRCm39) |
Y118* |
probably null |
Het |
| Or3a10 |
A |
G |
11: 73,935,873 (GRCm39) |
C76R |
possibly damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,218 (GRCm39) |
C74S |
probably damaging |
Het |
| Or6d15 |
T |
A |
6: 116,559,617 (GRCm39) |
I97L |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,413,567 (GRCm39) |
T353S |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,357 (GRCm39) |
T827A |
probably benign |
Het |
| Prlr |
C |
T |
15: 10,317,652 (GRCm39) |
T40I |
probably damaging |
Het |
| Psme3 |
T |
C |
11: 101,210,730 (GRCm39) |
|
probably benign |
Het |
| Pygb |
A |
T |
2: 150,657,626 (GRCm39) |
D363V |
probably benign |
Het |
| Rsph6a |
C |
T |
7: 18,788,871 (GRCm39) |
Q68* |
probably null |
Het |
| Serpini2 |
A |
G |
3: 75,165,445 (GRCm39) |
V178A |
probably benign |
Het |
| Sh2d2a |
T |
C |
3: 87,759,195 (GRCm39) |
|
probably benign |
Het |
| Skint7 |
A |
C |
4: 111,837,395 (GRCm39) |
M58L |
probably benign |
Het |
| Slco3a1 |
G |
T |
7: 73,970,301 (GRCm39) |
Y435* |
probably null |
Het |
| Stk17b |
T |
C |
1: 53,801,742 (GRCm39) |
|
probably benign |
Het |
| Tinag |
T |
A |
9: 76,938,992 (GRCm39) |
H162L |
possibly damaging |
Het |
| Ttc21a |
T |
A |
9: 119,787,865 (GRCm39) |
L811Q |
probably damaging |
Het |
| Ttc41 |
A |
T |
10: 86,594,961 (GRCm39) |
M912L |
probably benign |
Het |
| Vmn2r98 |
G |
T |
17: 19,273,875 (GRCm39) |
V41F |
probably benign |
Het |
| Washc5 |
C |
T |
15: 59,213,942 (GRCm39) |
C838Y |
possibly damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,990,796 (GRCm39) |
T352A |
probably damaging |
Het |
| Zan |
A |
C |
5: 137,394,439 (GRCm39) |
C4467G |
unknown |
Het |
| Zc3h7a |
T |
C |
16: 10,970,197 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
C |
A |
13: 67,768,345 (GRCm39) |
C628F |
probably benign |
Het |
|
| Other mutations in Cyp2c69 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01873:Cyp2c69
|
APN |
19 |
39,869,693 (GRCm39) |
splice site |
probably benign |
|
|
IGL02127:Cyp2c69
|
APN |
19 |
39,839,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02945:Cyp2c69
|
APN |
19 |
39,875,091 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03067:Cyp2c69
|
APN |
19 |
39,869,537 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL03069:Cyp2c69
|
APN |
19 |
39,869,537 (GRCm39) |
missense |
probably benign |
0.29 |
|
BB007:Cyp2c69
|
UTSW |
19 |
39,831,434 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
BB017:Cyp2c69
|
UTSW |
19 |
39,831,434 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1276:Cyp2c69
|
UTSW |
19 |
39,864,668 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1468:Cyp2c69
|
UTSW |
19 |
39,837,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Cyp2c69
|
UTSW |
19 |
39,837,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1534:Cyp2c69
|
UTSW |
19 |
39,839,593 (GRCm39) |
missense |
probably benign |
|
|
R1549:Cyp2c69
|
UTSW |
19 |
39,831,430 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1703:Cyp2c69
|
UTSW |
19 |
39,864,810 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1752:Cyp2c69
|
UTSW |
19 |
39,869,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Cyp2c69
|
UTSW |
19 |
39,864,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1843:Cyp2c69
|
UTSW |
19 |
39,865,972 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1938:Cyp2c69
|
UTSW |
19 |
39,837,810 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2100:Cyp2c69
|
UTSW |
19 |
39,875,130 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2366:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2367:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2440:Cyp2c69
|
UTSW |
19 |
39,864,738 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2931:Cyp2c69
|
UTSW |
19 |
39,837,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3709:Cyp2c69
|
UTSW |
19 |
39,839,667 (GRCm39) |
splice site |
probably benign |
|
|
R3793:Cyp2c69
|
UTSW |
19 |
39,869,600 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3898:Cyp2c69
|
UTSW |
19 |
39,864,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4579:Cyp2c69
|
UTSW |
19 |
39,869,630 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4707:Cyp2c69
|
UTSW |
19 |
39,837,852 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4778:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4779:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4780:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4838:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4877:Cyp2c69
|
UTSW |
19 |
39,866,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5488:Cyp2c69
|
UTSW |
19 |
39,839,603 (GRCm39) |
missense |
probably null |
0.94 |
|
R5489:Cyp2c69
|
UTSW |
19 |
39,839,603 (GRCm39) |
missense |
probably null |
0.94 |
|
R6083:Cyp2c69
|
UTSW |
19 |
39,837,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6278:Cyp2c69
|
UTSW |
19 |
39,831,507 (GRCm39) |
nonsense |
probably null |
|
|
R6415:Cyp2c69
|
UTSW |
19 |
39,831,365 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6732:Cyp2c69
|
UTSW |
19 |
39,869,943 (GRCm39) |
missense |
probably benign |
|
|
R6858:Cyp2c69
|
UTSW |
19 |
39,866,009 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7023:Cyp2c69
|
UTSW |
19 |
39,865,986 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7227:Cyp2c69
|
UTSW |
19 |
39,869,610 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7228:Cyp2c69
|
UTSW |
19 |
39,869,610 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7260:Cyp2c69
|
UTSW |
19 |
39,831,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7262:Cyp2c69
|
UTSW |
19 |
39,875,176 (GRCm39) |
start gained |
probably benign |
|
|
R7479:Cyp2c69
|
UTSW |
19 |
39,870,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7570:Cyp2c69
|
UTSW |
19 |
39,848,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7663:Cyp2c69
|
UTSW |
19 |
39,865,953 (GRCm39) |
nonsense |
probably null |
|
|
R7785:Cyp2c69
|
UTSW |
19 |
39,839,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Cyp2c69
|
UTSW |
19 |
39,864,663 (GRCm39) |
missense |
probably benign |
|
|
R7920:Cyp2c69
|
UTSW |
19 |
39,866,247 (GRCm39) |
splice site |
probably null |
|
|
R7930:Cyp2c69
|
UTSW |
19 |
39,831,434 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8203:Cyp2c69
|
UTSW |
19 |
39,869,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8888:Cyp2c69
|
UTSW |
19 |
39,869,910 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8895:Cyp2c69
|
UTSW |
19 |
39,869,910 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9530:Cyp2c69
|
UTSW |
19 |
39,848,311 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9645:Cyp2c69
|
UTSW |
19 |
39,869,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Cyp2c69
|
UTSW |
19 |
39,839,504 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9753:Cyp2c69
|
UTSW |
19 |
39,865,991 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGTCTTCAGTCTGAAACTTAGAGC -3'
(R):5'- GTTGATTGCACAAAGATGCCCAAACG -3'
Sequencing Primer
(F):5'- CTTCAGTCTGAAACTTAGAGCATTAC -3'
(R):5'- GATGCCCAAACGCAAAATATTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation