Incidental Mutation 'R7270:Plcd4'
| ID |
565197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcd4
|
| Ensembl Gene |
ENSMUSG00000026173 |
| Gene Name |
phospholipase C, delta 4 |
| Synonyms |
4921507K24Rik |
| MMRRC Submission |
045390-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7270 (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 74593838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 321
(E321G)
|
| 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: E321G
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027362
Gene: ENSMUSG00000026173
AA Change: E321G
| 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: E321G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173
AA Change: E321G
| 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: ENSMUST00000113747
AA Change: E321G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173
AA Change: E321G
| 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: E321G
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173
AA Change: E321G
| 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: E321G
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173
AA Change: E321G
| 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: E321G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115322
Gene: ENSMUSG00000026173
AA Change: E321G
| 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: E321G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121732
Gene: ENSMUSG00000026173
AA Change: E321G
| 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: 99.7%
- 20x: 99.0%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
A |
T |
10: 42,301,245 (GRCm39) |
Y193N |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
| Aimp1 |
T |
C |
3: 132,382,772 (GRCm39) |
K44E |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,046,318 (GRCm39) |
Y369N |
unknown |
Het |
| Art5 |
A |
T |
7: 101,747,080 (GRCm39) |
V233D |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,792,836 (GRCm39) |
N431Y |
possibly damaging |
Het |
| Bik |
T |
A |
15: 83,428,364 (GRCm39) |
F131I |
possibly damaging |
Het |
| Bmpr1a |
A |
G |
14: 34,163,082 (GRCm39) |
Y103H |
probably damaging |
Het |
| Cabp7 |
C |
T |
11: 4,696,676 (GRCm39) |
V18M |
possibly damaging |
Het |
| Cacna1a |
C |
A |
8: 85,297,866 (GRCm39) |
T1240N |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,603,739 (GRCm39) |
V1311A |
probably damaging |
Het |
| Cbarp |
A |
C |
10: 79,973,151 (GRCm39) |
S16A |
possibly damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Ces2b |
A |
T |
8: 105,564,472 (GRCm39) |
H494L |
possibly damaging |
Het |
| Cfap43 |
T |
A |
19: 47,728,224 (GRCm39) |
H1511L |
possibly damaging |
Het |
| Cfap54 |
A |
G |
10: 92,675,320 (GRCm39) |
V2867A |
probably benign |
Het |
| Col5a1 |
C |
T |
2: 27,887,597 (GRCm39) |
P956L |
unknown |
Het |
| Dcakd |
T |
G |
11: 102,891,032 (GRCm39) |
Q19P |
possibly damaging |
Het |
| Ddx47 |
T |
A |
6: 135,000,301 (GRCm39) |
D432E |
probably benign |
Het |
| Dhrs7b |
T |
C |
11: 60,735,055 (GRCm39) |
F29L |
probably benign |
Het |
| Dis3l2 |
A |
T |
1: 86,918,025 (GRCm39) |
D558V |
possibly damaging |
Het |
| Dtx3l |
T |
A |
16: 35,754,027 (GRCm39) |
D193V |
probably damaging |
Het |
| Eif1ad12 |
T |
C |
12: 87,541,663 (GRCm39) |
L58P |
probably damaging |
Het |
| Epha4 |
G |
A |
1: 77,376,422 (GRCm39) |
R486C |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,842,033 (GRCm39) |
T1404A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,490,475 (GRCm39) |
T3796A |
probably damaging |
Het |
| Ffar2 |
A |
T |
7: 30,518,929 (GRCm39) |
W204R |
probably benign |
Het |
| Ftmt |
A |
G |
18: 52,465,091 (GRCm39) |
I136V |
probably benign |
Het |
| Gm10300 |
T |
C |
4: 131,802,167 (GRCm39) |
W54R |
unknown |
Het |
| Gm10518 |
C |
T |
1: 179,630,949 (GRCm39) |
P3L |
unknown |
Het |
| Grm2 |
G |
A |
9: 106,528,257 (GRCm39) |
T209M |
probably damaging |
Het |
| Gtdc1 |
C |
T |
2: 44,525,322 (GRCm39) |
M176I |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,710,440 (GRCm39) |
L382P |
probably damaging |
Het |
| Jade2 |
A |
G |
11: 51,708,011 (GRCm39) |
V734A |
possibly damaging |
Het |
| Kcnh4 |
C |
T |
11: 100,638,472 (GRCm39) |
R586H |
probably benign |
Het |
| Kdm1a |
A |
T |
4: 136,279,838 (GRCm39) |
D721E |
probably damaging |
Het |
| Knl1 |
G |
A |
2: 118,933,003 (GRCm39) |
C2054Y |
possibly damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,584,644 (GRCm39) |
P354S |
probably benign |
Het |
| Luzp2 |
A |
G |
7: 54,724,774 (GRCm39) |
I112V |
probably damaging |
Het |
| Mgl2 |
T |
C |
11: 70,026,506 (GRCm39) |
S105P |
probably damaging |
Het |
| Mocs1 |
T |
A |
17: 49,756,143 (GRCm39) |
M200K |
possibly damaging |
Het |
| Oat |
T |
A |
7: 132,168,927 (GRCm39) |
I98L |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,920,312 (GRCm39) |
Y8C |
|
Het |
| Or5b108 |
G |
A |
19: 13,168,768 (GRCm39) |
V246I |
possibly damaging |
Het |
| Or6c1b |
T |
G |
10: 129,273,319 (GRCm39) |
F213V |
probably benign |
Het |
| Pde1b |
T |
A |
15: 103,430,082 (GRCm39) |
M137K |
possibly damaging |
Het |
| Phf21a |
T |
C |
2: 92,157,484 (GRCm39) |
I204T |
probably damaging |
Het |
| Plpp7 |
C |
T |
2: 31,985,662 (GRCm39) |
|
probably benign |
Het |
| Prdm1 |
A |
G |
10: 44,317,566 (GRCm39) |
I419T |
probably benign |
Het |
| Sec16b |
A |
T |
1: 157,392,032 (GRCm39) |
R855W |
probably damaging |
Het |
| Sec16b |
G |
T |
1: 157,392,033 (GRCm39) |
R855M |
probably damaging |
Het |
| Sec31b |
T |
C |
19: 44,511,482 (GRCm39) |
T640A |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,923,471 (GRCm39) |
T425A |
possibly damaging |
Het |
| Sirpd |
A |
T |
3: 15,385,704 (GRCm39) |
I66N |
probably benign |
Het |
| Skil |
T |
C |
3: 31,151,324 (GRCm39) |
|
probably benign |
Het |
| Slc1a5 |
G |
A |
7: 16,519,623 (GRCm39) |
V200M |
probably damaging |
Het |
| Slc25a12 |
T |
C |
2: 71,154,369 (GRCm39) |
H139R |
probably benign |
Het |
| Slc25a32 |
A |
T |
15: 38,961,630 (GRCm39) |
V187D |
probably damaging |
Het |
| Slc35a3 |
G |
A |
3: 116,505,455 (GRCm39) |
|
probably benign |
Het |
| Smap2 |
C |
A |
4: 120,829,264 (GRCm39) |
M328I |
probably benign |
Het |
| Spef2 |
C |
T |
15: 9,600,066 (GRCm39) |
|
probably null |
Het |
| Srarp |
A |
G |
4: 141,160,389 (GRCm39) |
V148A |
possibly damaging |
Het |
| Stard9 |
T |
A |
2: 120,464,755 (GRCm39) |
Y73* |
probably null |
Het |
| Tars1 |
A |
G |
15: 11,392,105 (GRCm39) |
C236R |
probably benign |
Het |
| Tchh |
G |
C |
3: 93,351,837 (GRCm39) |
D426H |
unknown |
Het |
| Tnks2 |
T |
C |
19: 36,836,545 (GRCm39) |
F17S |
|
Het |
| Ube2g1 |
T |
C |
11: 72,553,939 (GRCm39) |
I30T |
possibly damaging |
Het |
| Ube2o |
C |
T |
11: 116,434,761 (GRCm39) |
D567N |
possibly damaging |
Het |
| Unc5b |
A |
T |
10: 60,608,002 (GRCm39) |
Y710* |
probably null |
Het |
| Vmn1r215 |
T |
C |
13: 23,260,089 (GRCm39) |
V43A |
possibly damaging |
Het |
| Xkr8 |
A |
G |
4: 132,455,648 (GRCm39) |
F242L |
probably benign |
Het |
| Zfp526 |
T |
A |
7: 24,925,345 (GRCm39) |
C535S |
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 |
|
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'- ATGTGCTGAGCAAGGATGGC -3'
(R):5'- AGACTTTCCTAGCTTGTGACAGAG -3'
Sequencing Primer
(F):5'- GGATGGCTTCCTCAAGTACC -3'
(R):5'- CCTAGCTTGTGACAGAGAGGATTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation