Incidental Mutation 'R8762:Plcd4'
| ID |
671819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcd4
|
| Ensembl Gene |
ENSMUSG00000026173 |
| Gene Name |
phospholipase C, delta 4 |
| Synonyms |
4921507K24Rik |
| MMRRC Submission |
068622-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8762 (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 74591213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 203
(T203A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027362]
[ENSMUST00000067916]
[ENSMUST00000113747]
[ENSMUST00000113749]
[ENSMUST00000113750]
[ENSMUST00000141412]
[ENSMUST00000152707]
|
| AlphaFold |
Q8K3R3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027362
AA Change: T203A
PolyPhen 2
Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000027362
Gene: ENSMUSG00000026173
AA Change: T203A
| 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 benign
Transcript: ENSMUST00000067916
AA Change: T203A
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173
AA Change: T203A
| 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: ENSMUST00000113747
AA Change: T203A
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173
AA Change: T203A
| 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: ENSMUST00000113749
AA Change: T203A
PolyPhen 2
Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173
AA Change: T203A
| 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 benign
Transcript: ENSMUST00000113750
AA Change: T203A
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173
AA Change: T203A
| 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: T203A
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115322
Gene: ENSMUSG00000026173
AA Change: T203A
| 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: T203A
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121732
Gene: ENSMUSG00000026173
AA Change: T203A
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (66/66) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
A |
G |
11: 101,301,226 (GRCm39) |
V272A |
probably benign |
Het |
| Acbd6 |
G |
A |
1: 155,562,706 (GRCm39) |
E236K |
probably damaging |
Het |
| Actr1b |
T |
C |
1: 36,748,909 (GRCm39) |
N9S |
probably benign |
Het |
| Adam17 |
A |
T |
12: 21,401,595 (GRCm39) |
D133E |
probably benign |
Het |
| Adam6b |
G |
A |
12: 113,453,227 (GRCm39) |
V15M |
probably damaging |
Het |
| Adam9 |
T |
A |
8: 25,457,235 (GRCm39) |
N631I |
probably damaging |
Het |
| Albfm1 |
A |
G |
5: 90,714,461 (GRCm39) |
N157S |
probably benign |
Het |
| Amy2a1 |
A |
T |
3: 113,325,276 (GRCm39) |
|
probably benign |
Het |
| Aplnr |
A |
T |
2: 84,967,515 (GRCm39) |
Y180F |
probably benign |
Het |
| Arhgef7 |
T |
C |
8: 11,831,216 (GRCm39) |
V105A |
probably benign |
Het |
| Bambi |
G |
A |
18: 3,511,277 (GRCm39) |
D33N |
probably damaging |
Het |
| Bicc1 |
G |
A |
10: 70,779,216 (GRCm39) |
T724I |
probably benign |
Het |
| Brd2 |
T |
A |
17: 34,335,934 (GRCm39) |
Q93L |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,972,759 (GRCm39) |
D222G |
possibly damaging |
Het |
| Cdh1 |
G |
T |
8: 107,386,336 (GRCm39) |
D420Y |
probably damaging |
Het |
| Cep162 |
T |
C |
9: 87,109,314 (GRCm39) |
S430G |
probably benign |
Het |
| Cfap161 |
T |
A |
7: 83,443,282 (GRCm39) |
R27S |
possibly damaging |
Het |
| Chek1 |
C |
T |
9: 36,629,636 (GRCm39) |
A237T |
probably benign |
Het |
| Chrna3 |
T |
A |
9: 54,922,995 (GRCm39) |
K271M |
probably damaging |
Het |
| Coro7 |
A |
C |
16: 4,452,203 (GRCm39) |
V410G |
probably benign |
Het |
| Crmp1 |
C |
A |
5: 37,441,440 (GRCm39) |
N507K |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,761,369 (GRCm39) |
R755G |
possibly damaging |
Het |
| Disc1 |
A |
G |
8: 125,881,796 (GRCm39) |
D577G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,156,811 (GRCm39) |
Y649H |
possibly damaging |
Het |
| Flywch1 |
A |
G |
17: 23,975,731 (GRCm39) |
S504P |
probably damaging |
Het |
| Fpr1 |
A |
T |
17: 18,097,851 (GRCm39) |
V46D |
probably damaging |
Het |
| Fpr-rs7 |
C |
T |
17: 20,333,789 (GRCm39) |
V234M |
probably benign |
Het |
| Ighv5-16 |
T |
C |
12: 113,802,288 (GRCm39) |
N71D |
probably benign |
Het |
| Kash5 |
G |
T |
7: 44,845,481 (GRCm39) |
D152E |
probably damaging |
Het |
| Kdm3b |
A |
G |
18: 34,937,157 (GRCm39) |
M480V |
probably benign |
Het |
| L3mbtl3 |
T |
A |
10: 26,152,121 (GRCm39) |
D825V |
probably damaging |
Het |
| Lef1 |
T |
A |
3: 130,988,366 (GRCm39) |
M311K |
probably damaging |
Het |
| Magi1 |
T |
A |
6: 93,792,789 (GRCm39) |
R150* |
probably null |
Het |
| Magi3 |
C |
T |
3: 103,958,169 (GRCm39) |
V639I |
probably damaging |
Het |
| Mocos |
A |
T |
18: 24,812,554 (GRCm39) |
R483W |
probably damaging |
Het |
| Mrps11 |
G |
T |
7: 78,438,487 (GRCm39) |
V80F |
possibly damaging |
Het |
| Myh2 |
A |
T |
11: 67,084,578 (GRCm39) |
R1706W |
probably damaging |
Het |
| Neurod6 |
T |
A |
6: 55,656,228 (GRCm39) |
L136F |
probably damaging |
Het |
| Nfe2l1 |
A |
T |
11: 96,711,306 (GRCm39) |
Y308N |
probably damaging |
Het |
| Nptn |
T |
A |
9: 58,525,905 (GRCm39) |
|
probably benign |
Het |
| Or1e28-ps1 |
G |
T |
11: 73,615,307 (GRCm39) |
T181N |
unknown |
Het |
| Or5g25 |
A |
T |
2: 85,478,034 (GRCm39) |
S210R |
probably damaging |
Het |
| Oscar |
A |
G |
7: 3,613,900 (GRCm39) |
S227P |
probably benign |
Het |
| Phgdh |
A |
C |
3: 98,247,024 (GRCm39) |
I42R |
possibly damaging |
Het |
| Pla2g4a |
C |
T |
1: 149,761,935 (GRCm39) |
G174D |
probably benign |
Het |
| Plk3 |
ACACTCAC |
ACAC |
4: 116,989,090 (GRCm39) |
|
probably benign |
Het |
| Plppr4 |
A |
T |
3: 117,119,482 (GRCm39) |
V309D |
probably damaging |
Het |
| Pltp |
T |
C |
2: 164,686,652 (GRCm39) |
K324E |
possibly damaging |
Het |
| Pml |
C |
T |
9: 58,154,348 (GRCm39) |
R175H |
probably damaging |
Het |
| Psg20 |
C |
A |
7: 18,408,557 (GRCm39) |
V388F |
probably benign |
Het |
| Qrfprl |
T |
C |
6: 65,424,393 (GRCm39) |
V182A |
probably benign |
Het |
| Rabgef1 |
A |
G |
5: 130,237,557 (GRCm39) |
D209G |
possibly damaging |
Het |
| Rif1 |
A |
T |
2: 52,001,742 (GRCm39) |
N90I |
|
Het |
| Sec31a |
T |
C |
5: 100,526,688 (GRCm39) |
H57R |
|
Het |
| Sidt1 |
T |
C |
16: 44,152,707 (GRCm39) |
N62S |
probably benign |
Het |
| Slc18a2 |
T |
A |
19: 59,261,355 (GRCm39) |
M172K |
probably benign |
Het |
| Slc34a3 |
T |
C |
2: 25,121,003 (GRCm39) |
T362A |
probably benign |
Het |
| Smtn |
T |
G |
11: 3,476,407 (GRCm39) |
D158A |
probably benign |
Het |
| Spen |
C |
T |
4: 141,200,261 (GRCm39) |
V2789M |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,910,849 (GRCm39) |
N608K |
probably benign |
Het |
| Tctn3 |
A |
G |
19: 40,595,636 (GRCm39) |
V383A |
unknown |
Het |
| Themis3 |
A |
T |
17: 66,866,676 (GRCm39) |
M188K |
probably benign |
Het |
| Trpv5 |
A |
G |
6: 41,652,313 (GRCm39) |
V124A |
probably benign |
Het |
| Tshr |
G |
A |
12: 91,504,324 (GRCm39) |
V421M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,539,426 (GRCm39) |
D34520V |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,608,294 (GRCm39) |
Y17876* |
probably null |
Het |
| Zrsr2-ps1 |
T |
C |
11: 22,923,694 (GRCm39) |
L156P |
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 |
|
|
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 |
|
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'- ACCTGGGAAGATGACCCTTAC -3'
(R):5'- AGTTCTTACCATTCTCAGAAGGCTC -3'
Sequencing Primer
(F):5'- TGCTTGCCACGTAAGAATAGGACTC -3'
(R):5'- TTCTCAGAAGGCTCATAGCG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation