Incidental Mutation 'R7047:Plcd4'
| ID |
547349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcd4
|
| Ensembl Gene |
ENSMUSG00000026173 |
| Gene Name |
phospholipase C, delta 4 |
| Synonyms |
4921507K24Rik |
| MMRRC Submission |
045145-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7047 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74581175-74605137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74591148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 181
(E181G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027362]
[ENSMUST00000067916]
[ENSMUST00000113747]
[ENSMUST00000113749]
[ENSMUST00000113750]
[ENSMUST00000141412]
[ENSMUST00000152707]
|
| AlphaFold |
Q8K3R3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027362
AA Change: E181G
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027362
Gene: ENSMUSG00000026173
AA Change: E181G
| 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 |
possibly damaging
Transcript: ENSMUST00000067916
AA Change: E181G
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173
AA Change: E181G
| 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 |
possibly damaging
Transcript: ENSMUST00000113747
AA Change: E181G
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173
AA Change: E181G
| 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 benign
Transcript: ENSMUST00000113749
AA Change: E181G
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173
AA Change: E181G
| 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 |
possibly damaging
Transcript: ENSMUST00000113750
AA Change: E181G
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173
AA Change: E181G
| 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 |
possibly damaging
Transcript: ENSMUST00000141412
AA Change: E181G
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000115322
Gene: ENSMUSG00000026173
AA Change: E181G
| 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 |
possibly damaging
Transcript: ENSMUST00000152707
AA Change: E181G
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121732
Gene: ENSMUSG00000026173
AA Change: E181G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (53/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,382,131 (GRCm39) |
I1278N |
possibly damaging |
Het |
| Adcy5 |
T |
A |
16: 35,087,585 (GRCm39) |
L482Q |
probably damaging |
Het |
| Adora2a |
A |
G |
10: 75,162,145 (GRCm39) |
I95V |
probably damaging |
Het |
| Anapc1 |
A |
C |
2: 128,457,350 (GRCm39) |
C1887G |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,693,865 (GRCm39) |
|
probably null |
Het |
| Capn11 |
G |
T |
17: 45,949,622 (GRCm39) |
S448* |
probably null |
Het |
| Capn7 |
C |
T |
14: 31,058,642 (GRCm39) |
|
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,048,539 (GRCm39) |
V65D |
possibly damaging |
Het |
| Col5a1 |
A |
G |
2: 27,818,096 (GRCm39) |
K107R |
unknown |
Het |
| Dbh |
T |
A |
2: 27,055,622 (GRCm39) |
I32N |
possibly damaging |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dzip3 |
A |
T |
16: 48,802,489 (GRCm39) |
N13K |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,422 (GRCm39) |
N221S |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,570,002 (GRCm39) |
F470L |
probably damaging |
Het |
| Filip1 |
T |
A |
9: 79,760,916 (GRCm39) |
Q206L |
probably damaging |
Het |
| Garin1b |
T |
A |
6: 29,323,809 (GRCm39) |
L178H |
probably damaging |
Het |
| Gpr63 |
G |
T |
4: 25,007,320 (GRCm39) |
A15S |
probably benign |
Het |
| Grhl3 |
T |
C |
4: 135,276,551 (GRCm39) |
|
probably null |
Het |
| Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,433,238 (GRCm39) |
Y193* |
probably null |
Het |
| Ints1 |
A |
C |
5: 139,744,226 (GRCm39) |
L1512* |
probably null |
Het |
| Kat2b |
A |
G |
17: 53,970,597 (GRCm39) |
Q661R |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,428,554 (GRCm39) |
N1303S |
possibly damaging |
Het |
| L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
| Maml2 |
T |
C |
9: 13,532,177 (GRCm39) |
|
probably benign |
Het |
| Mixl1 |
A |
G |
1: 180,524,183 (GRCm39) |
|
probably null |
Het |
| Mocs1 |
T |
C |
17: 49,759,887 (GRCm39) |
|
probably null |
Het |
| Ms4a15 |
T |
G |
19: 10,962,236 (GRCm39) |
N36T |
probably damaging |
Het |
| Msr1 |
G |
A |
8: 40,095,657 (GRCm39) |
T2I |
possibly damaging |
Het |
| Nlgn1 |
A |
C |
3: 25,490,199 (GRCm39) |
Y509* |
probably null |
Het |
| Nsmce1 |
C |
A |
7: 125,090,606 (GRCm39) |
G4C |
probably benign |
Het |
| Or4c113 |
A |
T |
2: 88,885,490 (GRCm39) |
F93L |
probably damaging |
Het |
| Or51v15-ps1 |
A |
G |
7: 103,278,918 (GRCm39) |
V83A |
probably damaging |
Het |
| Pan3 |
G |
A |
5: 147,483,175 (GRCm39) |
G452D |
probably damaging |
Het |
| Pcyox1 |
G |
T |
6: 86,365,891 (GRCm39) |
P441H |
probably damaging |
Het |
| Phf12 |
T |
C |
11: 77,904,099 (GRCm39) |
V273A |
probably damaging |
Het |
| Ptgfr |
A |
T |
3: 151,541,178 (GRCm39) |
I110N |
possibly damaging |
Het |
| Rab40c |
A |
C |
17: 26,138,458 (GRCm39) |
V8G |
probably damaging |
Het |
| Rasal3 |
T |
A |
17: 32,615,458 (GRCm39) |
Y460F |
probably damaging |
Het |
| Rhbdf2 |
A |
G |
11: 116,494,477 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,839,286 (GRCm39) |
N496Y |
possibly damaging |
Het |
| Sacs |
A |
T |
14: 61,450,451 (GRCm39) |
I4166F |
probably damaging |
Het |
| Sh2d3c |
T |
C |
2: 32,611,172 (GRCm39) |
M1T |
probably null |
Het |
| Smarca2 |
C |
T |
19: 26,646,555 (GRCm39) |
S651L |
possibly damaging |
Het |
| Sned1 |
A |
T |
1: 93,213,540 (GRCm39) |
R1204S |
possibly damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,860,249 (GRCm39) |
Y41H |
probably damaging |
Het |
| Stab2 |
C |
T |
10: 86,694,016 (GRCm39) |
C2075Y |
probably damaging |
Het |
| Tcte1 |
A |
T |
17: 45,844,294 (GRCm39) |
Q90L |
possibly damaging |
Het |
| Tll2 |
C |
T |
19: 41,074,679 (GRCm39) |
G945S |
probably damaging |
Het |
| Tmbim7 |
A |
T |
5: 3,720,112 (GRCm39) |
T116S |
probably benign |
Het |
| Tnfrsf19 |
A |
T |
14: 61,242,667 (GRCm39) |
C72* |
probably null |
Het |
| Usp17le |
T |
A |
7: 104,417,640 (GRCm39) |
T501S |
probably benign |
Het |
| Wnt5b |
T |
A |
6: 119,425,217 (GRCm39) |
|
probably benign |
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 |
|
|
R5887:Plcd4
|
UTSW |
1 |
74,590,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- TTACAGGACCTGGGAAGATGAC -3'
(R):5'- AATGAGTTCCAGAGCGAGGTC -3'
Sequencing Primer
(F):5'- TGCTTGCCACGTAAGAATAGGACTC -3'
(R):5'- CGAGGTCAGGAGCATGGTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation