Incidental Mutation 'R9114:Plcd4'
| ID |
692385 |
| 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 # |
R9114 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74581175-74605137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74591307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 234
(E234G)
|
| 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: E234G
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027362
Gene: ENSMUSG00000026173
AA Change: E234G
| 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: E234G
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173
AA Change: E234G
| 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: E234G
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173
AA Change: E234G
| 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: E234G
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173
AA Change: E234G
| 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: E234G
PolyPhen 2
Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173
AA Change: E234G
| 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: E234G
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115322
Gene: ENSMUSG00000026173
AA Change: E234G
| 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: E234G
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121732
Gene: ENSMUSG00000026173
AA Change: E234G
| 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: 98.5%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,788,702 (GRCm39) |
L1027* |
probably null |
Het |
| Actl11 |
T |
A |
9: 107,808,509 (GRCm39) |
M944K |
possibly damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,906,427 (GRCm39) |
K491E |
probably damaging |
Het |
| Ahr |
A |
T |
12: 35,561,164 (GRCm39) |
D150E |
probably damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,607,304 (GRCm39) |
L17Q |
probably damaging |
Het |
| Bysl |
A |
G |
17: 47,915,242 (GRCm39) |
S169P |
|
Het |
| C4b |
A |
T |
17: 34,948,404 (GRCm39) |
F1610I |
probably damaging |
Het |
| Chtf8 |
C |
A |
8: 107,612,481 (GRCm39) |
A153S |
probably benign |
Het |
| Ciapin1 |
C |
T |
8: 95,558,400 (GRCm39) |
|
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,429,395 (GRCm39) |
E171G |
possibly damaging |
Het |
| Crybb3 |
T |
C |
5: 113,225,407 (GRCm39) |
N155S |
probably benign |
Het |
| Dclk3 |
T |
A |
9: 111,317,683 (GRCm39) |
M773K |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,489,267 (GRCm39) |
V260D |
probably damaging |
Het |
| Dmxl2 |
T |
A |
9: 54,307,321 (GRCm39) |
N2216Y |
|
Het |
| Epn2 |
T |
C |
11: 61,437,446 (GRCm39) |
E42G |
probably damaging |
Het |
| Esrrg |
C |
A |
1: 187,878,605 (GRCm39) |
P229T |
probably benign |
Het |
| Esrrg |
C |
A |
1: 187,878,606 (GRCm39) |
P229Q |
possibly damaging |
Het |
| Ethe1 |
G |
T |
7: 24,305,643 (GRCm39) |
R130L |
probably benign |
Het |
| Fgl2 |
G |
A |
5: 21,580,363 (GRCm39) |
C235Y |
probably damaging |
Het |
| Fmnl1 |
C |
T |
11: 103,087,327 (GRCm39) |
T890M |
unknown |
Het |
| Fsip2 |
C |
G |
2: 82,807,301 (GRCm39) |
P1207A |
probably benign |
Het |
| Gc |
C |
T |
5: 89,593,165 (GRCm39) |
D85N |
possibly damaging |
Het |
| Gfi1 |
G |
A |
5: 107,869,370 (GRCm39) |
R287W |
probably damaging |
Het |
| Gm3629 |
T |
C |
14: 17,834,566 (GRCm39) |
|
probably null |
Het |
| Hapln3 |
A |
G |
7: 78,771,712 (GRCm39) |
F59S |
probably benign |
Het |
| Il24 |
G |
A |
1: 130,813,483 (GRCm39) |
T38I |
possibly damaging |
Het |
| Izumo1 |
A |
G |
7: 45,276,583 (GRCm39) |
D382G |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,382,887 (GRCm39) |
Y739* |
probably null |
Het |
| Kif2b |
T |
A |
11: 91,466,538 (GRCm39) |
I582F |
possibly damaging |
Het |
| Klhdc1 |
A |
G |
12: 69,288,783 (GRCm39) |
Y31C |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,128,669 (GRCm39) |
E3009K |
|
Het |
| Mad2l1bp |
G |
A |
17: 46,458,958 (GRCm39) |
R191C |
probably damaging |
Het |
| Mark1 |
A |
C |
1: 184,644,261 (GRCm39) |
S468A |
probably damaging |
Het |
| Mknk2 |
T |
A |
10: 80,504,823 (GRCm39) |
N236Y |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,287,983 (GRCm39) |
C251* |
probably null |
Het |
| Nacad |
T |
C |
11: 6,552,252 (GRCm39) |
D313G |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,099,599 (GRCm39) |
D4750E |
probably benign |
Het |
| Nlrp6 |
T |
C |
7: 140,506,332 (GRCm39) |
S758P |
probably damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or13a28 |
A |
C |
7: 140,218,282 (GRCm39) |
I223L |
probably benign |
Het |
| Or51b4 |
T |
C |
7: 103,530,569 (GRCm39) |
T294A |
possibly damaging |
Het |
| Or8b3b |
A |
G |
9: 38,583,892 (GRCm39) |
F283L |
probably benign |
Het |
| Oxtr |
A |
G |
6: 112,466,481 (GRCm39) |
V93A |
probably damaging |
Het |
| Pbx3 |
C |
A |
2: 34,103,271 (GRCm39) |
D234Y |
probably damaging |
Het |
| Pde4b |
A |
T |
4: 102,459,826 (GRCm39) |
T554S |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pid1 |
A |
T |
1: 84,015,955 (GRCm39) |
Y151N |
probably damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,478,789 (GRCm39) |
V373A |
probably benign |
Het |
| Ppp1r12c |
T |
C |
7: 4,485,792 (GRCm39) |
K685E |
possibly damaging |
Het |
| Rnf34 |
T |
A |
5: 122,999,957 (GRCm39) |
V71D |
probably damaging |
Het |
| Rpap2 |
T |
G |
5: 107,746,156 (GRCm39) |
H11Q |
possibly damaging |
Het |
| Skint2 |
A |
G |
4: 112,496,834 (GRCm39) |
T247A |
probably benign |
Het |
| Stat5b |
T |
A |
11: 100,692,350 (GRCm39) |
N145Y |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,856,017 (GRCm39) |
L91P |
probably damaging |
Het |
| Syt1 |
A |
G |
10: 108,340,376 (GRCm39) |
I314T |
probably damaging |
Het |
| Tlk1 |
A |
T |
2: 70,572,502 (GRCm39) |
N355K |
probably benign |
Het |
| Tnc |
C |
A |
4: 63,890,973 (GRCm39) |
M1636I |
probably benign |
Het |
| Trank1 |
C |
A |
9: 111,162,843 (GRCm39) |
A34D |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,719,665 (GRCm39) |
I1001T |
probably benign |
Het |
| Vdr |
T |
C |
15: 97,765,136 (GRCm39) |
D201G |
probably benign |
Het |
| Vmn2r115 |
A |
T |
17: 23,564,307 (GRCm39) |
I160L |
probably benign |
Het |
| Wdr81 |
C |
A |
11: 75,335,250 (GRCm39) |
R1772L |
probably damaging |
Het |
| Zfp457 |
T |
C |
13: 67,442,068 (GRCm39) |
D169G |
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 |
|
R8762:Plcd4
|
UTSW |
1 |
74,591,213 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9000:Plcd4
|
UTSW |
1 |
74,601,024 (GRCm39) |
nonsense |
probably null |
|
|
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'- GCTAAATCTCTTGCAGGAGGC -3'
(R):5'- CAGGGAAGGGCTACTTTAGGTG -3'
Sequencing Primer
(F):5'- GCAGATGTTACCCAGTCTGATGATC -3'
(R):5'- AAGGGCTACTTTAGGTGATGGG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation