Incidental Mutation 'R6431:Pde4d'
ID |
535654 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde4d
|
Ensembl Gene |
ENSMUSG00000021699 |
Gene Name |
phosphodiesterase 4D, cAMP specific |
Synonyms |
9630011N22Rik, dunce, Dpde3 |
MMRRC Submission |
044569-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6431 (G1)
|
Quality Score |
72.0102 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
108790711-110092503 bp(+) (GRCm39) |
Type of Mutation |
splice site (20074 bp from exon) |
DNA Base Change (assembly) |
G to A
at 109738320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079975]
|
AlphaFold |
Q01063 |
Predicted Effect |
probably null
Transcript: ENSMUST00000079975
|
SMART Domains |
Protein: ENSMUSP00000078891 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
HDc
|
349 |
524 |
1.12e-2 |
SMART |
low complexity region
|
672 |
687 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 93.9%
|
Validation Efficiency |
100% (68/68) |
MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit delayed growth, female infertility associated with impaired ovulation, and reduced postnatal viability. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
A |
G |
16: 35,099,607 (GRCm39) |
E719G |
probably damaging |
Het |
Ankdd1a |
A |
G |
9: 65,424,220 (GRCm39) |
M31T |
possibly damaging |
Het |
Atp13a5 |
T |
C |
16: 29,070,154 (GRCm39) |
K911E |
possibly damaging |
Het |
Bpifb3 |
G |
T |
2: 153,766,728 (GRCm39) |
L210F |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,728,334 (GRCm39) |
Y211C |
probably damaging |
Het |
Carm1 |
C |
A |
9: 21,494,373 (GRCm39) |
P297T |
probably damaging |
Het |
Cdh19 |
A |
T |
1: 110,852,787 (GRCm39) |
Y383N |
probably benign |
Het |
Cfap221 |
T |
C |
1: 119,860,583 (GRCm39) |
H681R |
probably damaging |
Het |
Cmya5 |
A |
C |
13: 93,210,972 (GRCm39) |
S3274A |
possibly damaging |
Het |
Cndp2 |
T |
A |
18: 84,693,203 (GRCm39) |
K186* |
probably null |
Het |
Ctdp1 |
G |
T |
18: 80,494,470 (GRCm39) |
F310L |
probably damaging |
Het |
Cyp2c55 |
A |
T |
19: 39,019,853 (GRCm39) |
I264F |
probably damaging |
Het |
Dhx40 |
A |
T |
11: 86,664,649 (GRCm39) |
F628I |
probably damaging |
Het |
Disc1 |
T |
A |
8: 125,862,128 (GRCm39) |
M500K |
possibly damaging |
Het |
Dnah5 |
A |
C |
15: 28,349,970 (GRCm39) |
D2551A |
possibly damaging |
Het |
Esyt1 |
A |
G |
10: 128,352,543 (GRCm39) |
|
probably null |
Het |
Fam78a |
T |
C |
2: 31,972,843 (GRCm39) |
S26G |
probably damaging |
Het |
Fn1 |
G |
A |
1: 71,687,003 (GRCm39) |
|
probably null |
Het |
Gbx1 |
T |
C |
5: 24,709,916 (GRCm39) |
T310A |
probably benign |
Het |
Ggh |
T |
A |
4: 20,042,219 (GRCm39) |
C16S |
unknown |
Het |
Gm11595 |
T |
A |
11: 99,663,600 (GRCm39) |
T27S |
unknown |
Het |
Gm17334 |
T |
A |
11: 53,663,564 (GRCm39) |
|
probably benign |
Het |
Gsk3b |
A |
G |
16: 38,014,311 (GRCm39) |
I256M |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,620,711 (GRCm39) |
S1166R |
probably benign |
Het |
Hyou1 |
T |
C |
9: 44,293,322 (GRCm39) |
|
probably null |
Het |
Jup |
G |
T |
11: 100,265,167 (GRCm39) |
R637S |
probably benign |
Het |
Lama2 |
T |
A |
10: 26,929,027 (GRCm39) |
I2087F |
possibly damaging |
Het |
Lamc1 |
T |
G |
1: 153,097,417 (GRCm39) |
K1542N |
probably benign |
Het |
Lgals4 |
G |
T |
7: 28,540,117 (GRCm39) |
|
|
Het |
Lrrc8d |
A |
G |
5: 105,959,626 (GRCm39) |
D12G |
probably damaging |
Het |
Lrwd1 |
C |
T |
5: 136,161,888 (GRCm39) |
V207M |
possibly damaging |
Het |
Mbd1 |
T |
A |
18: 74,406,762 (GRCm39) |
|
probably null |
Het |
Msi1 |
T |
A |
5: 115,588,984 (GRCm39) |
I333N |
probably damaging |
Het |
Neo1 |
C |
T |
9: 58,814,354 (GRCm39) |
V871I |
probably benign |
Het |
Nr2c1 |
T |
C |
10: 94,024,078 (GRCm39) |
C428R |
probably damaging |
Het |
Ntm |
A |
G |
9: 29,322,978 (GRCm39) |
L14P |
probably damaging |
Het |
Nxpe4 |
A |
T |
9: 48,304,145 (GRCm39) |
K77N |
probably damaging |
Het |
Or1p1c |
A |
C |
11: 74,160,235 (GRCm39) |
T7P |
possibly damaging |
Het |
Or4c119 |
T |
A |
2: 88,987,505 (GRCm39) |
S5C |
probably damaging |
Het |
Or4f17-ps1 |
T |
A |
2: 111,358,001 (GRCm39) |
M132K |
probably damaging |
Het |
Or8g30 |
T |
C |
9: 39,230,074 (GRCm39) |
T279A |
possibly damaging |
Het |
Or8k18 |
G |
A |
2: 86,085,702 (GRCm39) |
L112F |
probably benign |
Het |
Pappa |
T |
A |
4: 65,074,701 (GRCm39) |
D418E |
probably damaging |
Het |
Pip |
A |
G |
6: 41,828,391 (GRCm39) |
N75S |
possibly damaging |
Het |
Plcl1 |
G |
C |
1: 55,736,411 (GRCm39) |
R584P |
probably benign |
Het |
Pnp |
A |
T |
14: 51,188,471 (GRCm39) |
D237V |
probably damaging |
Het |
Ppp1r12a |
T |
C |
10: 108,098,281 (GRCm39) |
W857R |
probably damaging |
Het |
Pramel13 |
T |
C |
4: 144,119,653 (GRCm39) |
T305A |
possibly damaging |
Het |
Ptchd3 |
A |
T |
11: 121,727,229 (GRCm39) |
M368L |
probably benign |
Het |
Pum1 |
T |
A |
4: 130,501,816 (GRCm39) |
S868R |
probably damaging |
Het |
R3hdml |
A |
T |
2: 163,344,324 (GRCm39) |
S238C |
probably damaging |
Het |
Robo2 |
G |
A |
16: 73,843,697 (GRCm39) |
R173* |
probably null |
Het |
Sall3 |
A |
G |
18: 81,016,402 (GRCm39) |
S509P |
possibly damaging |
Het |
Sap130 |
T |
G |
18: 31,799,418 (GRCm39) |
H298Q |
possibly damaging |
Het |
Selenov |
C |
A |
7: 27,987,458 (GRCm39) |
G307C |
probably damaging |
Het |
Setd2 |
T |
A |
9: 110,379,453 (GRCm39) |
H1089Q |
possibly damaging |
Het |
Setdb2 |
T |
C |
14: 59,656,505 (GRCm39) |
N287D |
probably damaging |
Het |
Sis |
C |
T |
3: 72,865,507 (GRCm39) |
V182I |
probably benign |
Het |
Slc32a1 |
A |
C |
2: 158,453,457 (GRCm39) |
D99A |
probably benign |
Het |
Slk |
A |
G |
19: 47,609,327 (GRCm39) |
D760G |
probably damaging |
Het |
Smg5 |
T |
A |
3: 88,258,527 (GRCm39) |
D499E |
probably benign |
Het |
Spata31e2 |
T |
A |
1: 26,723,111 (GRCm39) |
N690Y |
probably benign |
Het |
Stat3 |
T |
C |
11: 100,780,400 (GRCm39) |
T720A |
possibly damaging |
Het |
Trdn |
T |
G |
10: 33,015,110 (GRCm39) |
N21K |
probably damaging |
Het |
Trpm4 |
A |
T |
7: 44,975,992 (GRCm39) |
V118E |
possibly damaging |
Het |
Vgll3 |
A |
G |
16: 65,612,640 (GRCm39) |
Q41R |
probably damaging |
Het |
Vmn1r189 |
A |
G |
13: 22,286,525 (GRCm39) |
V104A |
probably damaging |
Het |
Vmn1r46 |
A |
T |
6: 89,953,389 (GRCm39) |
R79S |
probably benign |
Het |
Zscan4c |
T |
C |
7: 10,740,856 (GRCm39) |
M125T |
probably benign |
Het |
|
Other mutations in Pde4d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Pde4d
|
APN |
13 |
110,073,221 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL00792:Pde4d
|
APN |
13 |
110,071,929 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01014:Pde4d
|
APN |
13 |
110,086,036 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01660:Pde4d
|
APN |
13 |
110,074,606 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02233:Pde4d
|
APN |
13 |
109,877,084 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02405:Pde4d
|
APN |
13 |
108,996,743 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02544:Pde4d
|
APN |
13 |
109,877,057 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02885:Pde4d
|
APN |
13 |
110,084,795 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03286:Pde4d
|
APN |
13 |
110,091,040 (GRCm39) |
unclassified |
probably benign |
|
IGL03406:Pde4d
|
APN |
13 |
110,091,125 (GRCm39) |
unclassified |
probably benign |
|
Heliosphere
|
UTSW |
13 |
109,253,476 (GRCm39) |
missense |
probably benign |
|
Stubbs
|
UTSW |
13 |
109,909,256 (GRCm39) |
intron |
probably benign |
|
IGL03055:Pde4d
|
UTSW |
13 |
110,071,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R0020:Pde4d
|
UTSW |
13 |
110,091,104 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0020:Pde4d
|
UTSW |
13 |
110,091,104 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0054:Pde4d
|
UTSW |
13 |
109,876,955 (GRCm39) |
missense |
probably benign |
0.23 |
R0054:Pde4d
|
UTSW |
13 |
109,876,955 (GRCm39) |
missense |
probably benign |
0.23 |
R0357:Pde4d
|
UTSW |
13 |
110,087,802 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0482:Pde4d
|
UTSW |
13 |
110,073,244 (GRCm39) |
missense |
probably benign |
0.00 |
R0689:Pde4d
|
UTSW |
13 |
109,877,078 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0884:Pde4d
|
UTSW |
13 |
110,087,474 (GRCm39) |
missense |
probably damaging |
0.99 |
R1169:Pde4d
|
UTSW |
13 |
110,087,462 (GRCm39) |
splice site |
probably null |
|
R1225:Pde4d
|
UTSW |
13 |
110,086,755 (GRCm39) |
missense |
probably benign |
0.04 |
R1246:Pde4d
|
UTSW |
13 |
110,087,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R1344:Pde4d
|
UTSW |
13 |
110,086,921 (GRCm39) |
nonsense |
probably null |
|
R1351:Pde4d
|
UTSW |
13 |
110,087,809 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1371:Pde4d
|
UTSW |
13 |
109,253,595 (GRCm39) |
missense |
probably benign |
0.00 |
R1418:Pde4d
|
UTSW |
13 |
110,086,921 (GRCm39) |
nonsense |
probably null |
|
R2197:Pde4d
|
UTSW |
13 |
110,084,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R2440:Pde4d
|
UTSW |
13 |
110,063,731 (GRCm39) |
intron |
probably benign |
|
R3114:Pde4d
|
UTSW |
13 |
110,084,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R3115:Pde4d
|
UTSW |
13 |
110,084,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R3722:Pde4d
|
UTSW |
13 |
110,087,866 (GRCm39) |
nonsense |
probably null |
|
R3742:Pde4d
|
UTSW |
13 |
109,877,013 (GRCm39) |
missense |
probably benign |
0.42 |
R3797:Pde4d
|
UTSW |
13 |
109,769,431 (GRCm39) |
missense |
probably benign |
0.29 |
R3983:Pde4d
|
UTSW |
13 |
109,876,940 (GRCm39) |
missense |
probably benign |
0.23 |
R4618:Pde4d
|
UTSW |
13 |
110,070,411 (GRCm39) |
missense |
probably benign |
0.13 |
R4768:Pde4d
|
UTSW |
13 |
110,070,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R4795:Pde4d
|
UTSW |
13 |
110,074,705 (GRCm39) |
intron |
probably benign |
|
R4824:Pde4d
|
UTSW |
13 |
109,253,400 (GRCm39) |
missense |
probably benign |
0.00 |
R4942:Pde4d
|
UTSW |
13 |
108,996,733 (GRCm39) |
missense |
probably benign |
0.00 |
R4984:Pde4d
|
UTSW |
13 |
109,876,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R5180:Pde4d
|
UTSW |
13 |
109,877,007 (GRCm39) |
missense |
probably benign |
0.13 |
R5267:Pde4d
|
UTSW |
13 |
109,397,343 (GRCm39) |
intron |
probably benign |
|
R5311:Pde4d
|
UTSW |
13 |
109,769,399 (GRCm39) |
missense |
probably benign |
|
R5311:Pde4d
|
UTSW |
13 |
109,769,398 (GRCm39) |
missense |
probably benign |
0.02 |
R5376:Pde4d
|
UTSW |
13 |
109,909,178 (GRCm39) |
missense |
probably benign |
0.00 |
R5551:Pde4d
|
UTSW |
13 |
110,084,930 (GRCm39) |
critical splice donor site |
probably null |
|
R5753:Pde4d
|
UTSW |
13 |
109,909,256 (GRCm39) |
intron |
probably benign |
|
R5754:Pde4d
|
UTSW |
13 |
110,074,547 (GRCm39) |
missense |
probably damaging |
0.98 |
R5838:Pde4d
|
UTSW |
13 |
109,876,976 (GRCm39) |
missense |
probably damaging |
0.99 |
R5864:Pde4d
|
UTSW |
13 |
110,074,582 (GRCm39) |
missense |
probably benign |
0.00 |
R6039:Pde4d
|
UTSW |
13 |
110,084,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R6039:Pde4d
|
UTSW |
13 |
110,084,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R6049:Pde4d
|
UTSW |
13 |
109,169,119 (GRCm39) |
nonsense |
probably null |
|
R6214:Pde4d
|
UTSW |
13 |
110,085,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R6215:Pde4d
|
UTSW |
13 |
110,085,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R6273:Pde4d
|
UTSW |
13 |
110,086,755 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6501:Pde4d
|
UTSW |
13 |
109,253,476 (GRCm39) |
missense |
probably benign |
|
R6534:Pde4d
|
UTSW |
13 |
109,769,435 (GRCm39) |
missense |
probably benign |
0.05 |
R6709:Pde4d
|
UTSW |
13 |
110,084,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R6722:Pde4d
|
UTSW |
13 |
109,769,432 (GRCm39) |
nonsense |
probably null |
|
R7164:Pde4d
|
UTSW |
13 |
109,169,222 (GRCm39) |
missense |
probably benign |
|
R7222:Pde4d
|
UTSW |
13 |
109,894,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7417:Pde4d
|
UTSW |
13 |
109,769,322 (GRCm39) |
splice site |
probably null |
|
R7489:Pde4d
|
UTSW |
13 |
109,253,301 (GRCm39) |
missense |
unknown |
|
R7563:Pde4d
|
UTSW |
13 |
110,087,541 (GRCm39) |
missense |
probably benign |
0.37 |
R7861:Pde4d
|
UTSW |
13 |
110,071,858 (GRCm39) |
missense |
probably damaging |
0.99 |
R8167:Pde4d
|
UTSW |
13 |
109,578,855 (GRCm39) |
missense |
probably benign |
0.00 |
R8197:Pde4d
|
UTSW |
13 |
110,084,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R8469:Pde4d
|
UTSW |
13 |
108,996,722 (GRCm39) |
missense |
probably benign |
|
R8715:Pde4d
|
UTSW |
13 |
110,071,876 (GRCm39) |
missense |
probably benign |
0.29 |
R8926:Pde4d
|
UTSW |
13 |
110,074,625 (GRCm39) |
missense |
probably benign |
0.00 |
R9054:Pde4d
|
UTSW |
13 |
110,071,924 (GRCm39) |
missense |
probably damaging |
0.96 |
R9406:Pde4d
|
UTSW |
13 |
109,877,064 (GRCm39) |
missense |
probably damaging |
0.99 |
R9516:Pde4d
|
UTSW |
13 |
109,397,196 (GRCm39) |
missense |
|
|
R9526:Pde4d
|
UTSW |
13 |
110,071,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCTCAGTAGCATCCAGAAC -3'
(R):5'- GTCTCCTGAACGCCATTTGC -3'
Sequencing Primer
(F):5'- GTAGCATCCAGAACAGTCTCTTTGAC -3'
(R):5'- TAATACTGCAGCCCTTGAATGC -3'
|
Posted On |
2018-09-27 |