Incidental Mutation 'R6501:Pde4d'
ID |
519746 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde4d
|
Ensembl Gene |
ENSMUSG00000021699 |
Gene Name |
phosphodiesterase 4D, cAMP specific |
Synonyms |
9630011N22Rik, dunce, Dpde3 |
MMRRC Submission |
044633-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6501 (G1)
|
Quality Score |
107.008 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
108790711-110092503 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 109253476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 101
(H101L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112991
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120671]
[ENSMUST00000122041]
[ENSMUST00000177907]
|
AlphaFold |
Q01063 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000120671
AA Change: H101L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000112991 Gene: ENSMUSG00000021699 AA Change: H101L
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
84 |
N/A |
INTRINSIC |
HDc
|
454 |
629 |
1.12e-2 |
SMART |
low complexity region
|
777 |
792 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122041
|
SMART Domains |
Protein: ENSMUSP00000113488 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
HDc
|
398 |
573 |
1.12e-2 |
SMART |
low complexity region
|
721 |
736 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129374
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138938
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177907
|
SMART Domains |
Protein: ENSMUSP00000136485 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
HDc
|
398 |
573 |
1.12e-2 |
SMART |
low complexity region
|
721 |
736 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0831 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
100% (48/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
A |
T |
8: 71,914,165 (GRCm39) |
C154* |
probably null |
Het |
Ada |
A |
G |
2: 163,570,108 (GRCm39) |
|
probably null |
Het |
Birc6 |
G |
A |
17: 74,886,276 (GRCm39) |
V535I |
probably damaging |
Het |
Bptf |
T |
C |
11: 106,968,509 (GRCm39) |
N1058S |
probably null |
Het |
Cdadc1 |
C |
T |
14: 59,823,898 (GRCm39) |
C198Y |
probably benign |
Het |
Chrna7 |
G |
A |
7: 62,755,863 (GRCm39) |
R228C |
probably damaging |
Het |
Cts6 |
T |
C |
13: 61,344,149 (GRCm39) |
N301S |
probably damaging |
Het |
Cts8 |
T |
A |
13: 61,398,756 (GRCm39) |
D250V |
probably damaging |
Het |
Cyp26a1 |
G |
T |
19: 37,687,518 (GRCm39) |
R235L |
possibly damaging |
Het |
Disc1 |
A |
T |
8: 125,944,844 (GRCm39) |
M598L |
probably benign |
Het |
Ear6 |
T |
A |
14: 52,091,681 (GRCm39) |
V76D |
possibly damaging |
Het |
Grifin |
A |
G |
5: 140,549,036 (GRCm39) |
*145R |
probably null |
Het |
Htr2b |
T |
G |
1: 86,038,363 (GRCm39) |
E11A |
probably damaging |
Het |
Krtap4-9 |
T |
A |
11: 99,676,255 (GRCm39) |
|
probably benign |
Het |
Larp4b |
A |
C |
13: 9,218,829 (GRCm39) |
H522P |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,363,425 (GRCm39) |
|
probably null |
Het |
Mdfic |
T |
C |
6: 15,770,516 (GRCm39) |
L174P |
possibly damaging |
Het |
Mmp17 |
A |
G |
5: 129,683,469 (GRCm39) |
E535G |
probably benign |
Het |
Nfxl1 |
A |
T |
5: 72,685,852 (GRCm39) |
|
probably null |
Het |
Nynrin |
A |
T |
14: 56,100,989 (GRCm39) |
T260S |
probably benign |
Het |
Or4k44 |
C |
T |
2: 111,368,124 (GRCm39) |
G170D |
probably damaging |
Het |
Or7e168 |
A |
T |
9: 19,720,271 (GRCm39) |
Y219F |
possibly damaging |
Het |
Or8b1c |
A |
T |
9: 38,384,585 (GRCm39) |
I181F |
possibly damaging |
Het |
Pbx1 |
G |
T |
1: 168,037,103 (GRCm39) |
D109E |
probably damaging |
Het |
Pdlim3 |
T |
C |
8: 46,361,639 (GRCm39) |
I155T |
possibly damaging |
Het |
Plekha5 |
T |
A |
6: 140,471,655 (GRCm39) |
Y26* |
probably null |
Het |
Prpf6 |
T |
A |
2: 181,263,713 (GRCm39) |
L191* |
probably null |
Het |
Rabl6 |
A |
G |
2: 25,492,459 (GRCm39) |
V80A |
possibly damaging |
Het |
Rp1 |
T |
C |
1: 4,381,503 (GRCm39) |
|
probably benign |
Het |
Sec14l1 |
A |
G |
11: 117,047,676 (GRCm39) |
S698G |
probably damaging |
Het |
Skic2 |
A |
G |
17: 35,063,412 (GRCm39) |
S622P |
possibly damaging |
Het |
Slc19a1 |
G |
A |
10: 76,885,440 (GRCm39) |
G447S |
probably benign |
Het |
Slc2a6 |
A |
T |
2: 26,913,143 (GRCm39) |
Y383* |
probably null |
Het |
Slc9a9 |
C |
A |
9: 94,818,424 (GRCm39) |
Q273K |
probably benign |
Het |
Spint2 |
A |
G |
7: 28,963,131 (GRCm39) |
Y56H |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,472,146 (GRCm39) |
M123K |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,074,621 (GRCm39) |
|
probably null |
Het |
Trdn |
A |
C |
10: 33,342,450 (GRCm39) |
K619N |
probably benign |
Het |
Ttll13 |
A |
G |
7: 79,899,924 (GRCm39) |
T119A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,615,990 (GRCm39) |
Y8324C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,728,602 (GRCm39) |
|
probably benign |
Het |
Vav2 |
A |
G |
2: 27,186,231 (GRCm39) |
L208P |
probably damaging |
Het |
Vmn1r179 |
A |
G |
7: 23,628,342 (GRCm39) |
I178V |
probably benign |
Het |
Vmn1r210 |
T |
C |
13: 23,011,705 (GRCm39) |
M194V |
possibly damaging |
Het |
Vmn2r103 |
A |
T |
17: 20,032,166 (GRCm39) |
T647S |
probably benign |
Het |
Wdr49 |
T |
A |
3: 75,246,765 (GRCm39) |
H289L |
probably benign |
Het |
Wnk2 |
T |
G |
13: 49,300,159 (GRCm39) |
K184Q |
probably damaging |
Het |
Zfp758 |
A |
G |
17: 22,590,978 (GRCm39) |
|
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 |
R6431:Pde4d
|
UTSW |
13 |
109,738,320 (GRCm39) |
splice site |
probably null |
|
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'- AAGCCCCTAAGCATCTCTGGAG -3'
(R):5'- CAAGATTGGTGGTGACTGGTTAAC -3'
Sequencing Primer
(F):5'- ATCTCTGGAGGCACGAGCAG -3'
(R):5'- AGGTGACCCTTTCCCTGAGTG -3'
|
Posted On |
2018-06-06 |