Incidental Mutation 'R5180:Pde4d'
| ID |
399768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4d
|
| Ensembl Gene |
ENSMUSG00000021699 |
| Gene Name |
phosphodiesterase 4D, cAMP specific |
| Synonyms |
9630011N22Rik, dunce, Dpde3 |
| MMRRC Submission |
042760-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5180 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
108790711-110092503 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109877007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 73
(N73S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074103]
[ENSMUST00000079975]
[ENSMUST00000119507]
[ENSMUST00000120671]
[ENSMUST00000122041]
[ENSMUST00000135275]
[ENSMUST00000177907]
|
| AlphaFold |
Q01063 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074103
AA Change: N51S
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699
AA Change: N51S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
|
HDc
|
329 |
504 |
1.12e-2 |
SMART |
|
low complexity region
|
652 |
667 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079975
AA Change: N71S
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699
AA Change: N71S
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
349 |
524 |
1.12e-2 |
SMART |
|
low complexity region
|
672 |
687 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119507
AA Change: N76S
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699
AA Change: N76S
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
354 |
529 |
1.12e-2 |
SMART |
|
low complexity region
|
677 |
692 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120671
AA Change: N176S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: N176S
| 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
AA Change: N120S
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699
AA Change: N120S
| 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: ENSMUST00000134973
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135275
AA Change: N73S
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699
AA Change: N73S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
HDc
|
351 |
526 |
1.12e-2 |
SMART |
|
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177907
AA Change: N120S
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699
AA Change: N120S
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
398 |
573 |
1.12e-2 |
SMART |
|
low complexity region
|
721 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153234
AA Change: N126S
|
| SMART Domains |
Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699
AA Change: N126S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1E9K|A
|
22 |
59 |
9e-18 |
PDB |
|
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
|
HDc
|
405 |
580 |
1.12e-2 |
SMART |
|
low complexity region
|
728 |
743 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138938
|
| Meta Mutation Damage Score |
0.0662 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (60/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,416,510 (GRCm39) |
T4091A |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,431,535 (GRCm39) |
|
probably benign |
Het |
| Ago3 |
C |
T |
4: 126,261,544 (GRCm39) |
V435I |
probably benign |
Het |
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Ampd2 |
G |
T |
3: 107,986,358 (GRCm39) |
Q273K |
probably benign |
Het |
| Ankrd35 |
C |
A |
3: 96,587,789 (GRCm39) |
H109Q |
probably damaging |
Het |
| Atpaf2 |
A |
G |
11: 60,296,695 (GRCm39) |
L153S |
possibly damaging |
Het |
| C1qtnf7 |
G |
A |
5: 43,773,156 (GRCm39) |
V152M |
probably benign |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cep295 |
C |
T |
9: 15,243,416 (GRCm39) |
C1680Y |
probably benign |
Het |
| Cyp4f15 |
A |
T |
17: 32,909,714 (GRCm39) |
I104F |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,993,899 (GRCm39) |
N434S |
unknown |
Het |
| Dab2ip |
C |
T |
2: 35,610,503 (GRCm39) |
P782L |
possibly damaging |
Het |
| Dhx34 |
C |
A |
7: 15,939,405 (GRCm39) |
G663* |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,462,446 (GRCm39) |
D3715G |
probably damaging |
Het |
| Dnajc11 |
C |
T |
4: 152,054,396 (GRCm39) |
R201C |
probably damaging |
Het |
| Erf |
A |
T |
7: 24,945,690 (GRCm39) |
I27N |
probably damaging |
Het |
| Fbxl7 |
T |
A |
15: 26,543,507 (GRCm39) |
Y380F |
probably damaging |
Het |
| Gm3336 |
A |
G |
8: 71,173,110 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm5134 |
T |
C |
10: 75,812,200 (GRCm39) |
Y152H |
probably damaging |
Het |
| Gm6899 |
A |
G |
11: 26,543,795 (GRCm39) |
|
probably benign |
Het |
| Gna11 |
T |
C |
10: 81,380,707 (GRCm39) |
K19E |
probably benign |
Het |
| Gpr15 |
C |
A |
16: 58,538,248 (GRCm39) |
L280F |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Ino80d |
C |
A |
1: 63,125,488 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
T |
G |
10: 119,981,687 (GRCm39) |
K406T |
probably damaging |
Het |
| Kif15 |
G |
A |
9: 122,828,275 (GRCm39) |
C634Y |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Macrod2 |
A |
T |
2: 140,237,636 (GRCm39) |
E14V |
probably damaging |
Het |
| Matn3 |
T |
A |
12: 9,005,374 (GRCm39) |
D261E |
probably benign |
Het |
| Mdga1 |
A |
T |
17: 30,076,710 (GRCm39) |
|
probably benign |
Het |
| Natd1 |
G |
T |
11: 60,804,482 (GRCm39) |
R24S |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,962,941 (GRCm39) |
D415E |
possibly damaging |
Het |
| Or5b101 |
A |
T |
19: 13,004,776 (GRCm39) |
S306T |
probably benign |
Het |
| Parp9 |
T |
A |
16: 35,774,106 (GRCm39) |
Y81* |
probably null |
Het |
| Pigb |
A |
T |
9: 72,941,872 (GRCm39) |
I129N |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,940,761 (GRCm39) |
|
probably null |
Het |
| Ppfibp1 |
G |
T |
6: 146,928,819 (GRCm39) |
R813L |
probably damaging |
Het |
| Ramp3 |
T |
A |
11: 6,608,619 (GRCm39) |
L16Q |
unknown |
Het |
| Slc35a4 |
T |
C |
18: 36,815,688 (GRCm39) |
S173P |
probably benign |
Het |
| Slc41a1 |
T |
C |
1: 131,772,115 (GRCm39) |
V415A |
probably damaging |
Het |
| Smarcc2 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
10: 128,323,231 (GRCm39) |
|
probably benign |
Het |
| Snph |
G |
A |
2: 151,442,307 (GRCm39) |
R43W |
probably benign |
Het |
| Sptan1 |
A |
T |
2: 29,883,736 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
C |
A |
3: 54,616,506 (GRCm39) |
H254Q |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,869,046 (GRCm39) |
C112R |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,745,008 (GRCm39) |
Y206C |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,248,504 (GRCm39) |
V1961A |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,383,948 (GRCm39) |
Y30* |
probably null |
Het |
| Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
| Tnfrsf1b |
C |
A |
4: 144,954,067 (GRCm39) |
C94F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,579,740 (GRCm39) |
Y23718H |
probably damaging |
Het |
| Ube2i |
T |
C |
17: 25,484,268 (GRCm39) |
|
probably benign |
Het |
| Vmn2r16 |
G |
T |
5: 109,478,391 (GRCm39) |
V49F |
probably benign |
Het |
| Vps45 |
A |
G |
3: 95,953,683 (GRCm39) |
I223T |
possibly damaging |
Het |
| Zfp955a |
T |
C |
17: 33,461,592 (GRCm39) |
Y180C |
probably benign |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
Het |
| Zscan18 |
T |
A |
7: 12,509,216 (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 |
|
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'- ATACCACTACATCTCTAGTTCAACG -3'
(R):5'- CCAGAGATGAATCTGCTCAGG -3'
Sequencing Primer
(F):5'- GCAAGAATCAGATGTAATATCTTCCC -3'
(R):5'- CAGAGATGAATCTGCTCAGGTTTTTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation