Incidental Mutation 'IGL02570:Gpcpd1'
ID |
298972 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpcpd1
|
Ensembl Gene |
ENSMUSG00000027346 |
Gene Name |
glycerophosphocholine phosphodiesterase 1 |
Synonyms |
Prei4, 2310004G06Rik, 2310032D16Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.936)
|
Stock # |
IGL02570
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
132371002-132420173 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 132389605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 250
(V250D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028822]
[ENSMUST00000060955]
[ENSMUST00000110136]
[ENSMUST00000110142]
[ENSMUST00000124107]
[ENSMUST00000145694]
[ENSMUST00000148833]
[ENSMUST00000149854]
|
AlphaFold |
Q8C0L9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028822
AA Change: V66D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000028822 Gene: ENSMUSG00000027346 AA Change: V66D
Domain | Start | End | E-Value | Type |
Pfam:GDPD
|
142 |
432 |
1.3e-61 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000060955
AA Change: V250D
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000062221 Gene: ENSMUSG00000027346 AA Change: V250D
Domain | Start | End | E-Value | Type |
CBM_2
|
3 |
110 |
3.78e-29 |
SMART |
low complexity region
|
142 |
160 |
N/A |
INTRINSIC |
low complexity region
|
167 |
175 |
N/A |
INTRINSIC |
Pfam:GDPD
|
326 |
615 |
5.3e-61 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110136
AA Change: V66D
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000105763 Gene: ENSMUSG00000027346 AA Change: V66D
Domain | Start | End | E-Value | Type |
Pfam:GDPD
|
142 |
431 |
4.1e-59 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110142
AA Change: V250D
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000105769 Gene: ENSMUSG00000027346 AA Change: V250D
Domain | Start | End | E-Value | Type |
CBM_2
|
3 |
110 |
3.78e-29 |
SMART |
low complexity region
|
142 |
160 |
N/A |
INTRINSIC |
low complexity region
|
167 |
175 |
N/A |
INTRINSIC |
Pfam:GDPD
|
326 |
615 |
6.1e-63 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124107
|
SMART Domains |
Protein: ENSMUSP00000122751 Gene: ENSMUSG00000027346
Domain | Start | End | E-Value | Type |
CBM_2
|
3 |
110 |
3.78e-29 |
SMART |
low complexity region
|
142 |
160 |
N/A |
INTRINSIC |
low complexity region
|
167 |
175 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145694
|
SMART Domains |
Protein: ENSMUSP00000116457 Gene: ENSMUSG00000027346
Domain | Start | End | E-Value | Type |
CBM_2
|
3 |
110 |
3.78e-29 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148833
|
SMART Domains |
Protein: ENSMUSP00000116156 Gene: ENSMUSG00000027346
Domain | Start | End | E-Value | Type |
CBM_2
|
3 |
99 |
1.02e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149854
|
SMART Domains |
Protein: ENSMUSP00000116949 Gene: ENSMUSG00000027346
Domain | Start | End | E-Value | Type |
CBM_2
|
3 |
94 |
5.54e-13 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat3 |
T |
C |
17: 13,159,181 (GRCm39) |
T3A |
probably benign |
Het |
Anapc1 |
A |
C |
2: 128,487,120 (GRCm39) |
F1087V |
probably damaging |
Het |
Ccdc158 |
T |
C |
5: 92,796,885 (GRCm39) |
T484A |
possibly damaging |
Het |
Cps1 |
T |
C |
1: 67,187,862 (GRCm39) |
|
probably benign |
Het |
Fscb |
A |
G |
12: 64,518,952 (GRCm39) |
I838T |
unknown |
Het |
Gdap1 |
A |
G |
1: 17,215,709 (GRCm39) |
Q5R |
probably benign |
Het |
Gmds |
A |
G |
13: 32,418,390 (GRCm39) |
|
probably benign |
Het |
Gmfb |
A |
T |
14: 47,054,904 (GRCm39) |
D13E |
probably benign |
Het |
Grin2b |
T |
C |
6: 135,899,996 (GRCm39) |
D295G |
probably damaging |
Het |
Igkv1-135 |
A |
T |
6: 67,586,732 (GRCm39) |
M2L |
probably benign |
Het |
Impdh1 |
T |
C |
6: 29,203,197 (GRCm39) |
Y375C |
probably damaging |
Het |
Lrpprc |
A |
G |
17: 85,057,981 (GRCm39) |
Y750H |
probably damaging |
Het |
Mab21l2 |
A |
T |
3: 86,454,531 (GRCm39) |
S156R |
possibly damaging |
Het |
Map4k4 |
T |
C |
1: 40,019,739 (GRCm39) |
I146T |
probably benign |
Het |
Pcdh18 |
A |
T |
3: 49,711,074 (GRCm39) |
N80K |
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,590,480 (GRCm39) |
F1756L |
probably damaging |
Het |
Plekhg3 |
A |
G |
12: 76,625,019 (GRCm39) |
E1287G |
probably benign |
Het |
Rev3l |
T |
A |
10: 39,724,009 (GRCm39) |
V2647E |
possibly damaging |
Het |
Rxfp4 |
A |
C |
3: 88,560,149 (GRCm39) |
S101A |
probably damaging |
Het |
Spag4 |
A |
T |
2: 155,910,364 (GRCm39) |
H330L |
possibly damaging |
Het |
Spef2 |
G |
A |
15: 9,717,584 (GRCm39) |
R254* |
probably null |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Usp16 |
A |
G |
16: 87,277,781 (GRCm39) |
Y677C |
probably damaging |
Het |
Vmn2r71 |
T |
A |
7: 85,264,748 (GRCm39) |
W27R |
possibly damaging |
Het |
Vwa5a |
T |
C |
9: 38,646,167 (GRCm39) |
|
probably benign |
Het |
Zfp935 |
A |
G |
13: 62,604,792 (GRCm39) |
Y29H |
probably damaging |
Het |
|
Other mutations in Gpcpd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00542:Gpcpd1
|
APN |
2 |
132,398,903 (GRCm39) |
splice site |
probably null |
|
IGL00672:Gpcpd1
|
APN |
2 |
132,372,468 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL00676:Gpcpd1
|
APN |
2 |
132,395,931 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00832:Gpcpd1
|
APN |
2 |
132,388,770 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00931:Gpcpd1
|
APN |
2 |
132,380,038 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01309:Gpcpd1
|
APN |
2 |
132,392,244 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01960:Gpcpd1
|
APN |
2 |
132,381,818 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02110:Gpcpd1
|
APN |
2 |
132,372,530 (GRCm39) |
nonsense |
probably null |
|
IGL02267:Gpcpd1
|
APN |
2 |
132,410,630 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02588:Gpcpd1
|
APN |
2 |
132,376,673 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03306:Gpcpd1
|
APN |
2 |
132,375,993 (GRCm39) |
critical splice donor site |
probably null |
|
Baependi
|
UTSW |
2 |
132,386,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R0413:Gpcpd1
|
UTSW |
2 |
132,406,543 (GRCm39) |
splice site |
probably benign |
|
R1876:Gpcpd1
|
UTSW |
2 |
132,376,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R4276:Gpcpd1
|
UTSW |
2 |
132,382,207 (GRCm39) |
missense |
probably damaging |
0.99 |
R4571:Gpcpd1
|
UTSW |
2 |
132,392,270 (GRCm39) |
missense |
probably benign |
0.05 |
R4849:Gpcpd1
|
UTSW |
2 |
132,376,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R4930:Gpcpd1
|
UTSW |
2 |
132,388,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R5060:Gpcpd1
|
UTSW |
2 |
132,386,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R5081:Gpcpd1
|
UTSW |
2 |
132,389,622 (GRCm39) |
missense |
probably benign |
0.17 |
R5148:Gpcpd1
|
UTSW |
2 |
132,376,110 (GRCm39) |
nonsense |
probably null |
|
R5189:Gpcpd1
|
UTSW |
2 |
132,395,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R5344:Gpcpd1
|
UTSW |
2 |
132,400,597 (GRCm39) |
intron |
probably benign |
|
R5623:Gpcpd1
|
UTSW |
2 |
132,376,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R6086:Gpcpd1
|
UTSW |
2 |
132,380,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R6787:Gpcpd1
|
UTSW |
2 |
132,379,758 (GRCm39) |
intron |
probably benign |
|
R6885:Gpcpd1
|
UTSW |
2 |
132,395,994 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7223:Gpcpd1
|
UTSW |
2 |
132,375,976 (GRCm39) |
missense |
probably benign |
0.00 |
R7261:Gpcpd1
|
UTSW |
2 |
132,410,619 (GRCm39) |
missense |
probably damaging |
0.97 |
R7900:Gpcpd1
|
UTSW |
2 |
132,376,659 (GRCm39) |
missense |
probably damaging |
0.99 |
R8120:Gpcpd1
|
UTSW |
2 |
132,395,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R8494:Gpcpd1
|
UTSW |
2 |
132,386,355 (GRCm39) |
missense |
probably damaging |
0.97 |
R9594:Gpcpd1
|
UTSW |
2 |
132,388,848 (GRCm39) |
missense |
possibly damaging |
0.80 |
X0018:Gpcpd1
|
UTSW |
2 |
132,376,689 (GRCm39) |
missense |
probably damaging |
1.00 |
X0060:Gpcpd1
|
UTSW |
2 |
132,376,701 (GRCm39) |
missense |
probably damaging |
1.00 |
X0066:Gpcpd1
|
UTSW |
2 |
132,386,315 (GRCm39) |
missense |
probably benign |
0.33 |
|
Posted On |
2015-04-16 |