Incidental Mutation 'R7489:Pde4d'
| ID |
580435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4d
|
| Ensembl Gene |
ENSMUSG00000021699 |
| Gene Name |
phosphodiesterase 4D, cAMP specific |
| Synonyms |
9630011N22Rik, dunce, Dpde3 |
| MMRRC Submission |
045563-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7489 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
108790711-110092503 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 109253301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 43
(L43I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120671]
[ENSMUST00000122041]
[ENSMUST00000177907]
|
| AlphaFold |
Q01063 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000120671
AA Change: L43I
|
| SMART Domains |
Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: L43I
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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 |
|---|
| 2310079G19Rik |
A |
T |
16: 88,424,122 (GRCm39) |
V123D |
probably damaging |
Het |
| 4930503E14Rik |
A |
T |
14: 44,407,756 (GRCm39) |
N92K |
probably damaging |
Het |
| 4930519G04Rik |
T |
C |
5: 115,017,686 (GRCm39) |
S166P |
unknown |
Het |
| Abtb3 |
T |
A |
10: 85,463,079 (GRCm39) |
Y615N |
probably damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,586,586 (GRCm39) |
T369I |
probably damaging |
Het |
| Agbl4 |
T |
C |
4: 111,383,855 (GRCm39) |
S237P |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,839,649 (GRCm39) |
C187R |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,054,933 (GRCm39) |
T1626M |
probably damaging |
Het |
| Alas1 |
A |
T |
9: 106,118,833 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
G |
T |
7: 105,216,687 (GRCm39) |
T301N |
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,006,359 (GRCm39) |
V679A |
probably benign |
Het |
| Atp2a2 |
T |
C |
5: 122,605,830 (GRCm39) |
D375G |
probably benign |
Het |
| Best1 |
A |
G |
19: 9,974,410 (GRCm39) |
S45P |
possibly damaging |
Het |
| Bpifb4 |
A |
C |
2: 153,785,924 (GRCm39) |
T21P |
probably damaging |
Het |
| Cdx2 |
A |
T |
5: 147,243,482 (GRCm39) |
M104K |
probably benign |
Het |
| Ces1d |
A |
T |
8: 93,904,759 (GRCm39) |
L327Q |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,412 (GRCm39) |
H214R |
probably benign |
Het |
| Chd5 |
G |
A |
4: 152,457,925 (GRCm39) |
G1014D |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,228,346 (GRCm39) |
K2247N |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,583,348 (GRCm39) |
V110A |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,541,265 (GRCm39) |
S724P |
probably benign |
Het |
| Galnt1 |
T |
A |
18: 24,415,214 (GRCm39) |
V485D |
probably damaging |
Het |
| Garin3 |
G |
C |
11: 46,298,268 (GRCm39) |
G524A |
|
Het |
| Gli2 |
A |
G |
1: 118,765,905 (GRCm39) |
S749P |
probably benign |
Het |
| H2-M5 |
A |
C |
17: 37,300,363 (GRCm39) |
L12V |
unknown |
Het |
| Iqcf6 |
C |
A |
9: 106,504,656 (GRCm39) |
Q107K |
probably benign |
Het |
| Itfg1 |
C |
T |
8: 86,493,630 (GRCm39) |
C283Y |
probably damaging |
Het |
| Jak3 |
A |
C |
8: 72,136,936 (GRCm39) |
K704T |
probably damaging |
Het |
| Kl |
A |
T |
5: 150,876,461 (GRCm39) |
T94S |
probably damaging |
Het |
| Krt73 |
A |
C |
15: 101,702,294 (GRCm39) |
V523G |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,657,848 (GRCm39) |
F215L |
probably damaging |
Het |
| Lce1c |
G |
A |
3: 92,587,954 (GRCm39) |
C127Y |
unknown |
Het |
| Map6 |
C |
T |
7: 98,917,268 (GRCm39) |
R14C |
probably damaging |
Het |
| Mcm10 |
T |
A |
2: 5,006,112 (GRCm39) |
K410M |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,780,254 (GRCm39) |
N967K |
probably damaging |
Het |
| Mmp8 |
A |
T |
9: 7,561,388 (GRCm39) |
T131S |
probably benign |
Het |
| Ms4a14 |
T |
C |
19: 11,279,395 (GRCm39) |
I1054M |
probably benign |
Het |
| Mup14 |
A |
G |
4: 61,259,887 (GRCm39) |
M1T |
probably null |
Het |
| Myzap |
T |
A |
9: 71,468,320 (GRCm39) |
T110S |
probably benign |
Het |
| Nmrk1 |
A |
T |
19: 18,619,606 (GRCm39) |
K153M |
probably damaging |
Het |
| Nmrk1 |
G |
T |
19: 18,619,607 (GRCm39) |
K153N |
possibly damaging |
Het |
| Or4x12-ps1 |
T |
A |
2: 89,916,704 (GRCm39) |
M34L |
probably benign |
Het |
| Or6c70 |
A |
T |
10: 129,710,551 (GRCm39) |
I25N |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,414,842 (GRCm39) |
H761R |
possibly damaging |
Het |
| Prrc2a |
A |
T |
17: 35,381,330 (GRCm39) |
S46R |
unknown |
Het |
| Rab19 |
A |
G |
6: 39,365,039 (GRCm39) |
T100A |
probably benign |
Het |
| Rad51b |
C |
T |
12: 79,347,359 (GRCm39) |
R8* |
probably null |
Het |
| Sclt1 |
A |
T |
3: 41,584,032 (GRCm39) |
L642Q |
probably damaging |
Het |
| Scyl3 |
T |
C |
1: 163,776,745 (GRCm39) |
I392T |
possibly damaging |
Het |
| Sipa1l3 |
A |
G |
7: 29,066,127 (GRCm39) |
W1076R |
probably damaging |
Het |
| Slc12a9 |
C |
A |
5: 137,321,082 (GRCm39) |
A478S |
probably damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,741,113 (GRCm39) |
C511F |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,450,647 (GRCm39) |
L2612P |
probably damaging |
Het |
| Synrg |
C |
T |
11: 83,881,651 (GRCm39) |
T329I |
probably benign |
Het |
| Tdrd9 |
A |
G |
12: 112,034,071 (GRCm39) |
T1338A |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,486,521 (GRCm39) |
D996V |
possibly damaging |
Het |
| Ticam2 |
T |
A |
18: 46,693,584 (GRCm39) |
I168L |
probably damaging |
Het |
| Tom1l1 |
T |
C |
11: 90,547,185 (GRCm39) |
I374M |
probably benign |
Het |
| Trip10 |
A |
T |
17: 57,557,966 (GRCm39) |
K51I |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,656,545 (GRCm39) |
D735E |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,307,481 (GRCm39) |
N1050K |
possibly damaging |
Het |
| Tuba8 |
A |
T |
6: 121,202,980 (GRCm39) |
D431V |
probably damaging |
Het |
| Ucn2 |
C |
T |
9: 108,815,322 (GRCm39) |
T28I |
possibly damaging |
Het |
| Vmn1r21 |
C |
T |
6: 57,820,877 (GRCm39) |
G189D |
probably damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,945,522 (GRCm39) |
N695S |
possibly damaging |
Het |
| Xirp2 |
A |
C |
2: 67,355,904 (GRCm39) |
N3555T |
possibly damaging |
Het |
| Zfp119a |
A |
T |
17: 56,173,158 (GRCm39) |
H228Q |
probably damaging |
Het |
| Zfr |
T |
A |
15: 12,153,068 (GRCm39) |
H566Q |
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 |
|
|
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 |
|
|
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'- CTACAAGTCGGAAGCTGAGC -3'
(R):5'- ATCCTAGATTTCTTCAGGCCCG -3'
Sequencing Primer
(F):5'- CGCTCAGGCTGGTGTGG -3'
(R):5'- TACAGGTAGCGCTCGGTGTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation