Incidental Mutation 'R1371:Pde4d'
| ID |
157336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4d
|
| Ensembl Gene |
ENSMUSG00000021699 |
| Gene Name |
phosphodiesterase 4D, cAMP specific |
| Synonyms |
9630011N22Rik, dunce, Dpde3 |
| MMRRC Submission |
039435-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1371 (G1)
|
| Quality Score |
131 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
108790711-110092503 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109253595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 141
(S141P)
|
| 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: S141P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: S141P
| 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 |
0.1071 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.7%
- 20x: 89.0%
|
| Validation Efficiency |
100% (55/55) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,844,379 (GRCm39) |
D884V |
probably damaging |
Het |
| Acvr2a |
C |
T |
2: 48,789,628 (GRCm39) |
T457M |
probably damaging |
Het |
| Akr1b10 |
C |
T |
6: 34,369,394 (GRCm39) |
T208I |
probably benign |
Het |
| Aldh16a1 |
G |
T |
7: 44,796,674 (GRCm39) |
T275K |
possibly damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Asgr1 |
T |
G |
11: 69,946,923 (GRCm39) |
C56W |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,860,918 (GRCm39) |
I335T |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,741,762 (GRCm39) |
|
probably benign |
Het |
| Bdh1 |
G |
T |
16: 31,275,720 (GRCm39) |
K280N |
probably benign |
Het |
| Bmp1 |
C |
T |
14: 70,729,906 (GRCm39) |
C466Y |
probably damaging |
Het |
| Ccdc181 |
A |
G |
1: 164,108,172 (GRCm39) |
E285G |
probably benign |
Het |
| Ces1f |
C |
T |
8: 94,006,277 (GRCm39) |
G18R |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,824,045 (GRCm39) |
I109L |
possibly damaging |
Het |
| Cma2 |
T |
C |
14: 56,210,283 (GRCm39) |
L56S |
probably damaging |
Het |
| Edc4 |
A |
G |
8: 106,617,382 (GRCm39) |
|
probably benign |
Het |
| F3 |
T |
C |
3: 121,526,159 (GRCm39) |
C241R |
probably damaging |
Het |
| Fhdc1 |
T |
A |
3: 84,352,310 (GRCm39) |
S972C |
probably damaging |
Het |
| Heatr1 |
T |
G |
13: 12,432,513 (GRCm39) |
I1086R |
possibly damaging |
Het |
| Hsh2d |
A |
T |
8: 72,950,738 (GRCm39) |
|
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,744,340 (GRCm39) |
Y2081C |
probably damaging |
Het |
| Il1rl1 |
A |
G |
1: 40,481,873 (GRCm39) |
N194D |
probably damaging |
Het |
| Ip6k1 |
G |
A |
9: 107,923,022 (GRCm39) |
V385M |
probably damaging |
Het |
| Lig1 |
G |
A |
7: 13,022,611 (GRCm39) |
R147Q |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,537,165 (GRCm39) |
V41I |
probably damaging |
Het |
| Macroh2a2 |
A |
T |
10: 61,585,112 (GRCm39) |
D177E |
possibly damaging |
Het |
| Mst1r |
T |
A |
9: 107,794,424 (GRCm39) |
V1201E |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,892,116 (GRCm39) |
|
probably benign |
Het |
| Nbas |
G |
T |
12: 13,532,379 (GRCm39) |
|
probably benign |
Het |
| Ndst1 |
A |
G |
18: 60,840,719 (GRCm39) |
I321T |
possibly damaging |
Het |
| Nek10 |
G |
A |
14: 14,850,983 (GRCm38) |
G343R |
probably damaging |
Het |
| Or2a7 |
A |
T |
6: 43,151,234 (GRCm39) |
T105S |
probably benign |
Het |
| Or2y1 |
T |
A |
11: 49,385,650 (GRCm39) |
C97S |
probably damaging |
Het |
| Or4d2b |
A |
T |
11: 87,780,122 (GRCm39) |
I200N |
probably damaging |
Het |
| Pigm |
A |
T |
1: 172,204,381 (GRCm39) |
Q39L |
probably damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,846,750 (GRCm39) |
I88F |
probably benign |
Het |
| Prss16 |
T |
A |
13: 22,192,856 (GRCm39) |
|
probably benign |
Het |
| Psmc4 |
G |
A |
7: 27,742,222 (GRCm39) |
|
probably benign |
Het |
| Ptger3 |
T |
A |
3: 157,273,365 (GRCm39) |
C237* |
probably null |
Het |
| Recql |
G |
A |
6: 142,318,601 (GRCm39) |
T214M |
probably damaging |
Het |
| Rfx7 |
T |
A |
9: 72,526,857 (GRCm39) |
V1349D |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,964,041 (GRCm39) |
S1740P |
probably damaging |
Het |
| Rrm2b |
A |
T |
15: 37,947,053 (GRCm39) |
S83T |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,598,394 (GRCm39) |
Y149H |
probably benign |
Het |
| Smad1 |
A |
G |
8: 80,076,207 (GRCm39) |
|
probably benign |
Het |
| Snrnp70 |
T |
C |
7: 45,030,129 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
C |
A |
15: 9,725,194 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
T |
C |
13: 53,505,660 (GRCm39) |
T253A |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,959,784 (GRCm39) |
Y595C |
possibly damaging |
Het |
| Zfp382 |
T |
C |
7: 29,833,114 (GRCm39) |
V255A |
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 |
|
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 |
|
|
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'- CCGCTACAAGTCGGAAGCTGAG -3'
(R):5'- TCTAGGGCAAGGACAGACACGC -3'
Sequencing Primer
(F):5'- CATCACCACCTgccccc -3'
(R):5'- GACAGACACGCCCCTGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation