Incidental Mutation 'R7363:Plcd4'
| ID |
571443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcd4
|
| Ensembl Gene |
ENSMUSG00000026173 |
| Gene Name |
phospholipase C, delta 4 |
| Synonyms |
4921507K24Rik |
| MMRRC Submission |
045448-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7363 (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 T
at 74590231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 155
(S155C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027362]
[ENSMUST00000067916]
[ENSMUST00000113747]
[ENSMUST00000113749]
[ENSMUST00000113750]
[ENSMUST00000141412]
[ENSMUST00000152707]
|
| AlphaFold |
Q8K3R3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027362
AA Change: S155C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027362
Gene: ENSMUSG00000026173
AA Change: S155C
| 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 null
Transcript: ENSMUST00000067916
AA Change: S155C
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173
AA Change: S155C
| 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 null
Transcript: ENSMUST00000113747
AA Change: S155C
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173
AA Change: S155C
| 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 null
Transcript: ENSMUST00000113749
AA Change: S155C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173
AA Change: S155C
| 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 null
Transcript: ENSMUST00000113750
AA Change: S155C
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173
AA Change: S155C
| 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: S155C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115322
Gene: ENSMUSG00000026173
AA Change: S155C
| 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: S155C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121732
Gene: ENSMUSG00000026173
AA Change: S155C
| 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: 99.0%
|
| Validation Efficiency |
100% (72/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,244,782 (GRCm39) |
N190I |
probably damaging |
Het |
| Ablim1 |
G |
T |
19: 57,204,173 (GRCm39) |
L73I |
probably benign |
Het |
| Adamts4 |
A |
T |
1: 171,086,608 (GRCm39) |
Q800L |
probably benign |
Het |
| Atm |
A |
T |
9: 53,376,598 (GRCm39) |
I2014N |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,062,061 (GRCm39) |
C12R |
possibly damaging |
Het |
| B3galnt1 |
A |
T |
3: 69,483,157 (GRCm39) |
Y35N |
probably damaging |
Het |
| Bnc2 |
A |
T |
4: 84,210,308 (GRCm39) |
M687K |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,320,939 (GRCm39) |
Y917C |
probably damaging |
Het |
| Cemip2 |
T |
C |
19: 21,833,575 (GRCm39) |
F1338L |
probably benign |
Het |
| Ces2e |
A |
G |
8: 105,659,632 (GRCm39) |
|
probably null |
Het |
| Cldn23 |
A |
G |
8: 36,292,659 (GRCm39) |
|
probably null |
Het |
| Cntn5 |
G |
T |
9: 10,172,021 (GRCm39) |
S54R |
probably benign |
Het |
| Cyria |
T |
A |
12: 12,390,665 (GRCm39) |
|
probably null |
Het |
| Dido1 |
G |
T |
2: 180,304,310 (GRCm39) |
S1198* |
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,445,766 (GRCm39) |
M776V |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,518,089 (GRCm39) |
|
probably null |
Het |
| Dnttip1 |
GGGCCGGC |
GGGC |
2: 164,599,605 (GRCm39) |
|
probably null |
Het |
| Dusp28 |
A |
T |
1: 92,834,861 (GRCm39) |
T29S |
probably benign |
Het |
| Erich1 |
A |
T |
8: 14,083,688 (GRCm39) |
S127R |
probably benign |
Het |
| Fam151a |
T |
A |
4: 106,602,681 (GRCm39) |
L200H |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,263,057 (GRCm39) |
H207Q |
probably damaging |
Het |
| Fgf22 |
A |
G |
10: 79,592,676 (GRCm39) |
E116G |
probably benign |
Het |
| Gapvd1 |
C |
A |
2: 34,602,207 (GRCm39) |
V647F |
probably benign |
Het |
| Garin4 |
A |
T |
1: 190,895,910 (GRCm39) |
S244R |
probably damaging |
Het |
| Gja4 |
T |
A |
4: 127,206,487 (GRCm39) |
Y92F |
probably damaging |
Het |
| Gtf3c2 |
G |
A |
5: 31,327,600 (GRCm39) |
R288W |
probably damaging |
Het |
| Hira |
G |
T |
16: 18,716,532 (GRCm39) |
R99L |
possibly damaging |
Het |
| Ighv16-1 |
C |
T |
12: 114,032,721 (GRCm39) |
G27D |
probably damaging |
Het |
| Igkv1-133 |
C |
T |
6: 67,702,395 (GRCm39) |
P38S |
probably benign |
Het |
| Igkv4-59 |
T |
C |
6: 69,415,396 (GRCm39) |
Y53C |
probably damaging |
Het |
| Il23a |
T |
C |
10: 128,133,020 (GRCm39) |
E113G |
probably damaging |
Het |
| Kcnip1 |
A |
G |
11: 33,584,589 (GRCm39) |
V188A |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,216,850 (GRCm39) |
K155E |
unknown |
Het |
| Lancl2 |
T |
G |
6: 57,699,664 (GRCm39) |
C169G |
probably benign |
Het |
| Lrrc26 |
A |
G |
2: 25,180,581 (GRCm39) |
D194G |
probably benign |
Het |
| Lrrfip1 |
C |
T |
1: 91,050,842 (GRCm39) |
A545V |
probably benign |
Het |
| Lrtm1 |
T |
C |
14: 28,743,850 (GRCm39) |
F106S |
probably damaging |
Het |
| Lypd2 |
A |
T |
15: 74,604,848 (GRCm39) |
M49K |
probably damaging |
Het |
| Mbd1 |
A |
C |
18: 74,406,357 (GRCm39) |
D63A |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,691,729 (GRCm39) |
F990L |
probably damaging |
Het |
| Mtfr1l |
T |
C |
4: 134,256,577 (GRCm39) |
E196G |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,705,874 (GRCm39) |
T2007A |
probably benign |
Het |
| Nckap1 |
G |
A |
2: 80,370,512 (GRCm39) |
R393C |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,209,508 (GRCm39) |
T1605M |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,741 (GRCm39) |
D70G |
probably damaging |
Het |
| Or5j3 |
GTACTTTTT |
GT |
2: 86,128,338 (GRCm39) |
|
probably null |
Het |
| Pgap2 |
T |
A |
7: 101,875,467 (GRCm39) |
|
probably null |
Het |
| Pitrm1 |
A |
G |
13: 6,619,387 (GRCm39) |
S741G |
probably benign |
Het |
| Poc5 |
A |
T |
13: 96,540,925 (GRCm39) |
T365S |
possibly damaging |
Het |
| Ppp2r5c |
G |
A |
12: 110,489,041 (GRCm39) |
A71T |
probably benign |
Het |
| Prdm6 |
T |
A |
18: 53,598,199 (GRCm39) |
I187N |
possibly damaging |
Het |
| Pxk |
A |
G |
14: 8,152,118 (GRCm38) |
Q478R |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,394,914 (GRCm39) |
Y718C |
probably damaging |
Het |
| Ring1 |
G |
T |
17: 34,243,336 (GRCm39) |
T2K |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,173,897 (GRCm39) |
S2022G |
probably benign |
Het |
| Sec61a1 |
C |
A |
6: 88,492,533 (GRCm39) |
V32F |
probably benign |
Het |
| Sv2b |
G |
A |
7: 74,797,402 (GRCm39) |
P331S |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,090,970 (GRCm39) |
S795G |
possibly damaging |
Het |
| Tmod2 |
T |
C |
9: 75,484,023 (GRCm39) |
E309G |
probably damaging |
Het |
| Tpp2 |
T |
G |
1: 44,024,582 (GRCm39) |
S987A |
probably benign |
Het |
| Trim75 |
G |
C |
8: 65,435,539 (GRCm39) |
H304D |
probably damaging |
Het |
| Trp53bp2 |
G |
T |
1: 182,272,231 (GRCm39) |
D447Y |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,936,751 (GRCm39) |
K697E |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,339,909 (GRCm39) |
H22L |
probably benign |
Het |
| Vmn2r4 |
G |
A |
3: 64,314,432 (GRCm39) |
S183F |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,256,147 (GRCm39) |
Y721H |
probably benign |
Het |
| Wbp1l |
C |
T |
19: 46,642,569 (GRCm39) |
P190L |
possibly damaging |
Het |
| Zcchc4 |
A |
T |
5: 52,942,510 (GRCm39) |
Q105L |
possibly damaging |
Het |
| Zfp236 |
T |
C |
18: 82,639,456 (GRCm39) |
R1264G |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,616,413 (GRCm39) |
N54K |
probably damaging |
Het |
| Zkscan3 |
C |
T |
13: 21,571,992 (GRCm39) |
G547S |
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 |
|
|
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 |
|
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'- ACGCAGATTTCACTGAGCTTATTAC -3'
Sequencing Primer
(F):5'- CAACAAAGACAGAAGGAGGGGTTC -3'
(R):5'- GAGCTTATTACAGTAATGGAGCACAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation