Incidental Mutation 'R5887:Plcd4'
| ID |
456140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcd4
|
| Ensembl Gene |
ENSMUSG00000026173 |
| Gene Name |
phospholipase C, delta 4 |
| Synonyms |
4921507K24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5887 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74581175-74605137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74590249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 161
(R161W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027362]
[ENSMUST00000067916]
[ENSMUST00000113747]
[ENSMUST00000113749]
[ENSMUST00000113750]
[ENSMUST00000141412]
[ENSMUST00000152707]
|
| AlphaFold |
Q8K3R3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027362
AA Change: R161W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027362
Gene: ENSMUSG00000026173
AA Change: R161W
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
PLCYc
|
538 |
654 |
1.26e-75 |
SMART |
|
C2
|
673 |
779 |
5.68e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067916
AA Change: R161W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173
AA Change: R161W
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
PLCYc
|
506 |
622 |
1.26e-75 |
SMART |
|
C2
|
641 |
747 |
5.68e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113745
|
| SMART Domains |
Protein: ENSMUSP00000109374
Gene: ENSMUSG00000026173
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113747
AA Change: R161W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173
AA Change: R161W
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
PLCYc
|
506 |
622 |
1.26e-75 |
SMART |
|
C2
|
641 |
747 |
5.68e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113749
AA Change: R161W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173
AA Change: R161W
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
PLCYc
|
538 |
654 |
1.26e-75 |
SMART |
|
C2
|
673 |
779 |
5.68e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113750
AA Change: R161W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173
AA Change: R161W
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
PLCYc
|
506 |
622 |
1.26e-75 |
SMART |
|
C2
|
641 |
747 |
7.16e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141412
AA Change: R161W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115322
Gene: ENSMUSG00000026173
AA Change: R161W
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152707
AA Change: R161W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121732
Gene: ENSMUSG00000026173
AA Change: R161W
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185411
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5-trisphosphate and diacylglycerol. Expression of this gene may be a marker for cancer. [provided by RefSeq, Jan 2011]
PHENOTYPE: Males homozygous for a targeted null mutation are subfertile or sterile. Sperm from mutant males fail to initiate the acrosome reaction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
C |
T |
6: 91,892,124 (GRCm39) |
Q129* |
probably null |
Het |
| Acad8 |
A |
T |
9: 26,890,620 (GRCm39) |
|
probably null |
Het |
| AK157302 |
T |
C |
13: 21,679,579 (GRCm39) |
I35T |
possibly damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,483,413 (GRCm39) |
S1437* |
probably null |
Het |
| Calcrl |
A |
T |
2: 84,200,841 (GRCm39) |
W68R |
probably damaging |
Het |
| Cd200l1 |
T |
A |
16: 45,238,279 (GRCm39) |
L178F |
probably damaging |
Het |
| Cd59a |
A |
G |
2: 103,934,546 (GRCm39) |
R5G |
probably damaging |
Het |
| Chl1 |
C |
T |
6: 103,694,565 (GRCm39) |
A1091V |
probably benign |
Het |
| Copg1 |
T |
C |
6: 87,879,279 (GRCm39) |
F442L |
probably damaging |
Het |
| Creld1 |
T |
C |
6: 113,469,860 (GRCm39) |
*421Q |
probably null |
Het |
| Crocc2 |
T |
A |
1: 93,121,838 (GRCm39) |
H662Q |
possibly damaging |
Het |
| Csf2ra |
G |
A |
19: 61,215,766 (GRCm39) |
A13V |
possibly damaging |
Het |
| Cul3 |
T |
C |
1: 80,254,139 (GRCm39) |
T546A |
possibly damaging |
Het |
| Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
| Dock6 |
T |
A |
9: 21,731,690 (GRCm39) |
H1173L |
probably damaging |
Het |
| Dpysl4 |
T |
C |
7: 138,676,192 (GRCm39) |
I328T |
possibly damaging |
Het |
| Dspp |
G |
A |
5: 104,323,321 (GRCm39) |
G155R |
probably damaging |
Het |
| Fbxo33 |
A |
T |
12: 59,251,545 (GRCm39) |
C57* |
probably null |
Het |
| Frrs1 |
T |
A |
3: 116,690,399 (GRCm39) |
V14D |
probably benign |
Het |
| Gm13199 |
C |
T |
2: 5,867,113 (GRCm39) |
G96S |
unknown |
Het |
| Gpr155 |
A |
T |
2: 73,174,062 (GRCm39) |
C754* |
probably null |
Het |
| Gpr62 |
A |
T |
9: 106,342,814 (GRCm39) |
V38E |
probably damaging |
Het |
| Kcnt2 |
C |
A |
1: 140,353,104 (GRCm39) |
P271H |
probably damaging |
Het |
| Kpna3 |
C |
T |
14: 61,640,461 (GRCm39) |
V34I |
probably benign |
Het |
| Lamb1 |
C |
T |
12: 31,316,863 (GRCm39) |
Q71* |
probably null |
Het |
| Lipk |
T |
C |
19: 34,016,507 (GRCm39) |
I245T |
possibly damaging |
Het |
| Lrp1b |
T |
G |
2: 40,711,719 (GRCm39) |
N3281T |
possibly damaging |
Het |
| Lrp5 |
A |
C |
19: 3,654,094 (GRCm39) |
I1111S |
probably benign |
Het |
| Mmrn1 |
T |
C |
6: 60,964,058 (GRCm39) |
V1020A |
probably benign |
Het |
| Or4c107 |
G |
A |
2: 88,789,098 (GRCm39) |
C96Y |
possibly damaging |
Het |
| Or8b48 |
G |
A |
9: 38,493,080 (GRCm39) |
C169Y |
probably damaging |
Het |
| Or8g34 |
T |
C |
9: 39,372,787 (GRCm39) |
L17P |
probably damaging |
Het |
| Pcdha7 |
A |
T |
18: 37,108,960 (GRCm39) |
T662S |
probably damaging |
Het |
| Pcdhga6 |
A |
G |
18: 37,841,612 (GRCm39) |
D444G |
probably damaging |
Het |
| Pkd2 |
T |
G |
5: 104,646,405 (GRCm39) |
D737E |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,391,734 (GRCm39) |
Y1494C |
possibly damaging |
Het |
| Rad17 |
A |
C |
13: 100,770,369 (GRCm39) |
|
probably null |
Het |
| Rbm17 |
A |
T |
2: 11,590,485 (GRCm39) |
F390Y |
probably damaging |
Het |
| Rhod |
A |
T |
19: 4,489,315 (GRCm39) |
L22Q |
probably damaging |
Het |
| Serpina1f |
T |
C |
12: 103,656,046 (GRCm39) |
D394G |
possibly damaging |
Het |
| Serpina1f |
G |
A |
12: 103,659,890 (GRCm39) |
Q131* |
probably null |
Het |
| Spocd1 |
A |
T |
4: 129,842,752 (GRCm39) |
S56C |
probably damaging |
Het |
| St7l |
G |
A |
3: 104,782,244 (GRCm39) |
R207H |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,188,254 (GRCm39) |
L900* |
probably null |
Het |
| Tbx18 |
T |
C |
9: 87,595,566 (GRCm39) |
D336G |
possibly damaging |
Het |
| Tfg |
A |
T |
16: 56,514,779 (GRCm39) |
Y135* |
probably null |
Het |
| Tjp2 |
A |
G |
19: 24,073,963 (GRCm39) |
L1108P |
probably benign |
Het |
| Tmem150c |
C |
A |
5: 100,243,524 (GRCm39) |
V8L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,746,789 (GRCm39) |
H4753Q |
probably benign |
Het |
| Tyw1 |
T |
A |
5: 130,354,540 (GRCm39) |
I589N |
probably damaging |
Het |
| Usp40 |
C |
T |
1: 87,927,592 (GRCm39) |
R139Q |
probably damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,378,414 (GRCm39) |
Y174C |
probably damaging |
Het |
|
| Other mutations in Plcd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Plcd4
|
APN |
1 |
74,591,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01806:Plcd4
|
APN |
1 |
74,591,192 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02537:Plcd4
|
APN |
1 |
74,595,209 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02574:Plcd4
|
APN |
1 |
74,603,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Plcd4
|
APN |
1 |
74,596,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03350:Plcd4
|
APN |
1 |
74,588,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0415:Plcd4
|
UTSW |
1 |
74,591,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1699:Plcd4
|
UTSW |
1 |
74,587,394 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1852:Plcd4
|
UTSW |
1 |
74,588,520 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2120:Plcd4
|
UTSW |
1 |
74,603,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2125:Plcd4
|
UTSW |
1 |
74,604,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3023:Plcd4
|
UTSW |
1 |
74,587,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3157:Plcd4
|
UTSW |
1 |
74,590,313 (GRCm39) |
splice site |
probably null |
|
|
R4535:Plcd4
|
UTSW |
1 |
74,602,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4581:Plcd4
|
UTSW |
1 |
74,587,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Plcd4
|
UTSW |
1 |
74,604,961 (GRCm39) |
splice site |
probably null |
|
|
R4911:Plcd4
|
UTSW |
1 |
74,603,572 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4987:Plcd4
|
UTSW |
1 |
74,587,118 (GRCm39) |
unclassified |
probably benign |
|
|
R5102:Plcd4
|
UTSW |
1 |
74,604,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5752:Plcd4
|
UTSW |
1 |
74,587,131 (GRCm39) |
splice site |
probably null |
|
|
R6318:Plcd4
|
UTSW |
1 |
74,602,753 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6648:Plcd4
|
UTSW |
1 |
74,591,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6796:Plcd4
|
UTSW |
1 |
74,601,229 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6920:Plcd4
|
UTSW |
1 |
74,604,994 (GRCm39) |
unclassified |
probably benign |
|
|
R7047:Plcd4
|
UTSW |
1 |
74,591,148 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7121:Plcd4
|
UTSW |
1 |
74,604,524 (GRCm39) |
missense |
probably benign |
|
|
R7134:Plcd4
|
UTSW |
1 |
74,593,662 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7270:Plcd4
|
UTSW |
1 |
74,593,838 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7344:Plcd4
|
UTSW |
1 |
74,593,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7363:Plcd4
|
UTSW |
1 |
74,590,231 (GRCm39) |
missense |
probably null |
0.99 |
|
R7749:Plcd4
|
UTSW |
1 |
74,604,292 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7980:Plcd4
|
UTSW |
1 |
74,604,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8240:Plcd4
|
UTSW |
1 |
74,593,660 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8762:Plcd4
|
UTSW |
1 |
74,591,213 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9000:Plcd4
|
UTSW |
1 |
74,601,024 (GRCm39) |
nonsense |
probably null |
|
|
R9114:Plcd4
|
UTSW |
1 |
74,591,307 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9162:Plcd4
|
UTSW |
1 |
74,601,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9252:Plcd4
|
UTSW |
1 |
74,588,359 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9579:Plcd4
|
UTSW |
1 |
74,596,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Plcd4
|
UTSW |
1 |
74,596,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Plcd4
|
UTSW |
1 |
74,587,285 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTGGGAGAGAAACTGGCAAC -3'
(R):5'- CCACGCAGATTTCACTGAGC -3'
Sequencing Primer
(F):5'- CAACAAAGACAGAAGGAGGGGTTC -3'
(R):5'- GAGCTTATTACAGTAATGGAGCACAC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation