Incidental Mutation 'R4942:Pde4d'
| ID |
383224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4d
|
| Ensembl Gene |
ENSMUSG00000021699 |
| Gene Name |
phosphodiesterase 4D, cAMP specific |
| Synonyms |
9630011N22Rik, dunce, Dpde3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4942 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
108790711-110092503 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108996733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 12
(S12G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122041]
[ENSMUST00000177907]
|
| AlphaFold |
Q01063 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122041
AA Change: S12G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699
AA Change: S12G
| 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: ENSMUST00000133929
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151111
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177907
AA Change: S12G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699
AA Change: S12G
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
398 |
573 |
1.12e-2 |
SMART |
|
low complexity region
|
721 |
736 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| Validation Efficiency |
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
A |
G |
11: 25,720,472 (GRCm39) |
|
probably null |
Het |
| Adamts7 |
T |
C |
9: 90,045,364 (GRCm39) |
S23P |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,259,451 (GRCm39) |
C824* |
probably null |
Het |
| Adgre1 |
A |
G |
17: 57,713,903 (GRCm39) |
Y196C |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,051,009 (GRCm39) |
D542G |
possibly damaging |
Het |
| B3gat1 |
A |
G |
9: 26,666,894 (GRCm39) |
D42G |
probably benign |
Het |
| Birc6 |
G |
A |
17: 74,930,045 (GRCm39) |
A2412T |
probably damaging |
Het |
| Bnip5 |
T |
C |
17: 29,122,232 (GRCm39) |
R420G |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,983,678 (GRCm39) |
Y3459H |
unknown |
Het |
| Cacnb1 |
T |
C |
11: 97,893,809 (GRCm39) |
Y571C |
probably damaging |
Het |
| Cdk2ap2 |
G |
A |
19: 4,147,508 (GRCm39) |
|
probably null |
Het |
| Cep57 |
A |
G |
9: 13,724,723 (GRCm39) |
S265P |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,710,524 (GRCm39) |
I893T |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,512,263 (GRCm39) |
E491V |
probably damaging |
Het |
| Cldn10 |
G |
A |
14: 119,025,725 (GRCm39) |
G53S |
possibly damaging |
Het |
| Cobl |
A |
T |
11: 12,204,185 (GRCm39) |
I832N |
probably damaging |
Het |
| Col9a2 |
T |
C |
4: 120,910,316 (GRCm39) |
V487A |
possibly damaging |
Het |
| Cse1l |
C |
T |
2: 166,771,714 (GRCm39) |
T325I |
probably damaging |
Het |
| Dlx6 |
A |
G |
6: 6,863,468 (GRCm39) |
Q30R |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,948,116 (GRCm39) |
V1902A |
probably benign |
Het |
| Dusp8 |
A |
G |
7: 141,635,965 (GRCm39) |
F542L |
possibly damaging |
Het |
| Emid1 |
T |
G |
11: 5,079,430 (GRCm39) |
M323L |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,215,125 (GRCm39) |
D886G |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,730,649 (GRCm39) |
E461G |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,225,536 (GRCm39) |
C572F |
possibly damaging |
Het |
| Gigyf1 |
G |
T |
5: 137,523,952 (GRCm39) |
V1041L |
possibly damaging |
Het |
| Grin3b |
A |
G |
10: 79,811,556 (GRCm39) |
H714R |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,428,391 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Lypd6b |
C |
A |
2: 49,836,132 (GRCm39) |
H104Q |
probably benign |
Het |
| Man1a |
A |
T |
10: 53,809,586 (GRCm39) |
|
probably null |
Het |
| Megf6 |
A |
T |
4: 154,338,277 (GRCm39) |
D449V |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,556,599 (GRCm39) |
V1003A |
probably benign |
Het |
| Ncan |
C |
A |
8: 70,552,944 (GRCm39) |
W1096L |
probably damaging |
Het |
| Ndor1 |
C |
T |
2: 25,138,133 (GRCm39) |
|
probably null |
Het |
| Ndufaf1 |
T |
C |
2: 119,490,547 (GRCm39) |
E171G |
possibly damaging |
Het |
| Nell1 |
T |
C |
7: 49,770,397 (GRCm39) |
V152A |
possibly damaging |
Het |
| Nherf4 |
C |
A |
9: 44,159,915 (GRCm39) |
G402* |
probably null |
Het |
| Nt5dc1 |
A |
T |
10: 34,198,673 (GRCm39) |
V255E |
probably damaging |
Het |
| Or2a20 |
T |
A |
6: 43,193,928 (GRCm39) |
F27Y |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,208,375 (GRCm39) |
M1L |
probably null |
Het |
| Or52h7 |
A |
G |
7: 104,214,212 (GRCm39) |
I261M |
probably benign |
Het |
| Or52z14 |
G |
A |
7: 103,253,401 (GRCm39) |
R180H |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,407,171 (GRCm39) |
I50T |
probably damaging |
Het |
| P2ry13 |
G |
A |
3: 59,116,983 (GRCm39) |
T265I |
probably benign |
Het |
| Pigk |
C |
A |
3: 152,450,154 (GRCm39) |
N219K |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,595,509 (GRCm39) |
|
probably null |
Het |
| Psd2 |
A |
T |
18: 36,111,717 (GRCm39) |
D114V |
probably damaging |
Het |
| Ptch1 |
A |
T |
13: 63,672,884 (GRCm39) |
I770N |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,524,290 (GRCm39) |
M481K |
probably benign |
Het |
| Rnf216 |
A |
C |
5: 143,078,814 (GRCm39) |
M45R |
probably damaging |
Het |
| Rpsa |
T |
A |
9: 119,960,129 (GRCm39) |
W231R |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,768,998 (GRCm39) |
T2797N |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,666,602 (GRCm39) |
M1468K |
probably damaging |
Het |
| Slc6a7 |
A |
G |
18: 61,137,589 (GRCm39) |
Y244H |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,009,049 (GRCm39) |
D462V |
probably damaging |
Het |
| Spata31d1b |
A |
T |
13: 59,864,917 (GRCm39) |
E688D |
possibly damaging |
Het |
| Srpra |
G |
A |
9: 35,126,766 (GRCm39) |
R508H |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,773,737 (GRCm39) |
I181N |
unknown |
Het |
| Tnrc6a |
T |
C |
7: 122,791,836 (GRCm39) |
F1785L |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,752,811 (GRCm39) |
D2174E |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,623,600 (GRCm39) |
V15326I |
probably damaging |
Het |
| Ubap2 |
T |
A |
4: 41,245,461 (GRCm39) |
|
probably benign |
Het |
| Vmn2r113 |
C |
T |
17: 23,177,321 (GRCm39) |
P702S |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,656,980 (GRCm39) |
W142R |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,519,582 (GRCm39) |
Y459H |
probably damaging |
Het |
| Wsb2 |
C |
T |
5: 117,515,550 (GRCm39) |
T385M |
probably damaging |
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 |
|
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 |
|
|
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'- GAATCACTGTCCCAGTCCAC -3'
(R):5'- AACTAGGCCACACGGATGAATG -3'
Sequencing Primer
(F):5'- CAGCATTTCGAAGTGCACATG -3'
(R):5'- CACACGGATGAATGAGACTTCCTTTG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation