Incidental Mutation 'R3776:Gdpd5'
| ID |
273590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gdpd5
|
| Ensembl Gene |
ENSMUSG00000035314 |
| Gene Name |
glycerophosphodiester phosphodiesterase domain containing 5 |
| Synonyms |
Gde2 |
| MMRRC Submission |
040874-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3776 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
99030621-99111084 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99103779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 422
(R422Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037528]
[ENSMUST00000213887]
|
| AlphaFold |
Q640M6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037528
AA Change: R422Q
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000036175
Gene: ENSMUSG00000035314
AA Change: R422Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
transmembrane domain
|
92 |
114 |
N/A |
INTRINSIC |
|
transmembrane domain
|
127 |
146 |
N/A |
INTRINSIC |
|
transmembrane domain
|
161 |
180 |
N/A |
INTRINSIC |
|
transmembrane domain
|
193 |
215 |
N/A |
INTRINSIC |
|
Pfam:GDPD
|
233 |
380 |
9.8e-17 |
PFAM |
|
transmembrane domain
|
498 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208061
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213887
AA Change: R422Q
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycerophosphodiester phosphodiesterases (GDPDs; EC 3.1.4.46), such as GDPD5, are involved in glycerol metabolism (Lang et al., 2008 [PubMed 17578682]).[supplied by OMIM, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired motor neuron differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer1 |
C |
T |
17: 57,262,111 (GRCm39) |
V264M |
probably damaging |
Het |
| Adgrg1 |
C |
T |
8: 95,736,283 (GRCm39) |
S479F |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,735,911 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
CTTTTT |
CTTTTTT |
10: 98,815,731 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
A |
12: 100,913,438 (GRCm39) |
T529M |
probably damaging |
Het |
| Cdc27 |
T |
G |
11: 104,406,263 (GRCm39) |
E617D |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,880,962 (GRCm39) |
V367A |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,928,900 (GRCm39) |
Q1445* |
probably null |
Het |
| Crispld2 |
T |
C |
8: 120,756,005 (GRCm39) |
S325P |
probably damaging |
Het |
| Dll1 |
T |
C |
17: 15,588,786 (GRCm39) |
S630G |
probably benign |
Het |
| Ednra |
A |
G |
8: 78,401,724 (GRCm39) |
S189P |
probably damaging |
Het |
| Eif6 |
T |
A |
2: 155,668,296 (GRCm39) |
T20S |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,915,618 (GRCm39) |
V555A |
possibly damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,771,375 (GRCm39) |
F289I |
probably damaging |
Het |
| Gm5565 |
T |
A |
5: 146,095,419 (GRCm39) |
E192V |
probably benign |
Het |
| Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,882,182 (GRCm39) |
R204* |
probably null |
Het |
| Hhex |
A |
T |
19: 37,425,718 (GRCm39) |
Q149L |
probably damaging |
Het |
| Kat2b |
A |
G |
17: 53,874,609 (GRCm39) |
|
probably null |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Klra2 |
A |
T |
6: 131,219,926 (GRCm39) |
L85H |
probably benign |
Het |
| Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,193 (GRCm39) |
S134* |
probably null |
Het |
| Mttp |
T |
C |
3: 137,820,024 (GRCm39) |
|
probably null |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Nin |
G |
T |
12: 70,085,456 (GRCm39) |
Q1592K |
possibly damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,199,467 (GRCm39) |
E26G |
possibly damaging |
Het |
| Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
| Or4a15 |
A |
T |
2: 89,193,108 (GRCm39) |
S222T |
possibly damaging |
Het |
| Pdgfc |
A |
G |
3: 81,048,858 (GRCm39) |
T89A |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,214,992 (GRCm39) |
D1007G |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,612,543 (GRCm39) |
L98P |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,378,371 (GRCm39) |
|
probably null |
Het |
| Plod1 |
A |
G |
4: 148,015,734 (GRCm39) |
V105A |
possibly damaging |
Het |
| Polg2 |
G |
T |
11: 106,670,110 (GRCm39) |
F53L |
probably benign |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Rab3gap2 |
T |
C |
1: 185,009,402 (GRCm39) |
L1086P |
probably damaging |
Het |
| Rnf19a |
T |
A |
15: 36,266,058 (GRCm39) |
N13I |
probably benign |
Het |
| Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,955,966 (GRCm39) |
F1143L |
possibly damaging |
Het |
| Ubxn11 |
C |
T |
4: 133,835,605 (GRCm39) |
P4S |
probably damaging |
Het |
| Zg16 |
T |
A |
7: 126,649,704 (GRCm39) |
I86F |
probably damaging |
Het |
|
| Other mutations in Gdpd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03291:Gdpd5
|
APN |
7 |
99,109,328 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0149:Gdpd5
|
UTSW |
7 |
99,107,997 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0361:Gdpd5
|
UTSW |
7 |
99,107,997 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0811:Gdpd5
|
UTSW |
7 |
99,087,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Gdpd5
|
UTSW |
7 |
99,087,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Gdpd5
|
UTSW |
7 |
99,097,720 (GRCm39) |
missense |
probably benign |
|
|
R1864:Gdpd5
|
UTSW |
7 |
99,098,206 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1885:Gdpd5
|
UTSW |
7 |
99,109,204 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2099:Gdpd5
|
UTSW |
7 |
99,097,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Gdpd5
|
UTSW |
7 |
99,087,546 (GRCm39) |
missense |
probably null |
0.23 |
|
R5198:Gdpd5
|
UTSW |
7 |
99,087,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Gdpd5
|
UTSW |
7 |
99,102,234 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7356:Gdpd5
|
UTSW |
7 |
99,108,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Gdpd5
|
UTSW |
7 |
99,073,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7741:Gdpd5
|
UTSW |
7 |
99,103,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8165:Gdpd5
|
UTSW |
7 |
99,105,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8506:Gdpd5
|
UTSW |
7 |
99,103,157 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8725:Gdpd5
|
UTSW |
7 |
99,105,726 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8936:Gdpd5
|
UTSW |
7 |
99,109,199 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8977:Gdpd5
|
UTSW |
7 |
99,103,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9068:Gdpd5
|
UTSW |
7 |
99,108,048 (GRCm39) |
missense |
probably benign |
|
|
R9213:Gdpd5
|
UTSW |
7 |
99,100,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9249:Gdpd5
|
UTSW |
7 |
99,107,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9274:Gdpd5
|
UTSW |
7 |
99,107,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9489:Gdpd5
|
UTSW |
7 |
99,103,031 (GRCm39) |
missense |
|
|
|
R9525:Gdpd5
|
UTSW |
7 |
99,104,156 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9647:Gdpd5
|
UTSW |
7 |
99,104,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGGGCTCTACTGCTTC -3'
(R):5'- AAGGCTCCCTGTGTATTCTGC -3'
Sequencing Primer
(F):5'- CCTTGAAGGGTCTAGGAAGTCTCAG -3'
(R):5'- CACTGTGCCCACATGTGCTAAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation