Incidental Mutation 'R7484:Plcd3'
| ID |
580008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcd3
|
| Ensembl Gene |
ENSMUSG00000020937 |
| Gene Name |
phospholipase C, delta 3 |
| Synonyms |
2610205J15Rik |
| MMRRC Submission |
045558-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.723)
|
| Stock # |
R7484 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102961130-102992484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 102962545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 635
(K635N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021314]
[ENSMUST00000103077]
|
| AlphaFold |
Q8K2J0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021314
|
| SMART Domains |
Protein: ENSMUSP00000021314
Gene: ENSMUSG00000020936
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
67 |
N/A |
INTRINSIC |
|
Pfam:NMT
|
137 |
294 |
6.7e-77 |
PFAM |
|
Pfam:NMT_C
|
308 |
495 |
1.4e-85 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103077
AA Change: K635N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937
AA Change: K635N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
PH
|
61 |
170 |
4.07e-5 |
SMART |
|
Pfam:EF-hand_10
|
197 |
246 |
1.8e-27 |
PFAM |
|
Pfam:EF-hand_like
|
251 |
332 |
2.6e-24 |
PFAM |
|
PLCXc
|
333 |
478 |
7.75e-85 |
SMART |
|
low complexity region
|
495 |
512 |
N/A |
INTRINSIC |
|
PLCYc
|
524 |
640 |
3.96e-50 |
SMART |
|
C2
|
657 |
763 |
1.05e-14 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000117455
Gene: ENSMUSG00000020937
AA Change: K320N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
|
PLCXc
|
19 |
164 |
7.75e-85 |
SMART |
|
coiled coil region
|
172 |
206 |
N/A |
INTRINSIC |
|
PLCYc
|
210 |
326 |
3.96e-50 |
SMART |
|
C2
|
343 |
449 |
1.05e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (65/66) |
| 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 phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
G |
4: 144,504,521 (GRCm39) |
L210P |
probably damaging |
Het |
| Acacb |
G |
A |
5: 114,356,923 (GRCm39) |
V1285I |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,386,789 (GRCm39) |
I591N |
probably damaging |
Het |
| Acr |
T |
A |
15: 89,457,427 (GRCm39) |
V225E |
probably damaging |
Het |
| Actr8 |
A |
G |
14: 29,714,925 (GRCm39) |
D580G |
probably damaging |
Het |
| Adamts12 |
C |
A |
15: 11,345,734 (GRCm39) |
Q1592K |
probably benign |
Het |
| Aire |
T |
C |
10: 77,878,404 (GRCm39) |
E138G |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,056,884 (GRCm39) |
Q1789* |
probably null |
Het |
| Cbx5 |
A |
C |
15: 103,114,256 (GRCm39) |
|
probably null |
Het |
| Cd300lb |
A |
T |
11: 114,819,345 (GRCm39) |
W95R |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,827,605 (GRCm39) |
T504A |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,389,018 (GRCm39) |
S1605P |
probably damaging |
Het |
| Ckap2l |
A |
G |
2: 129,114,455 (GRCm39) |
V596A |
possibly damaging |
Het |
| Cntn1 |
T |
C |
15: 92,151,922 (GRCm39) |
W454R |
probably benign |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Csf2rb |
A |
G |
15: 78,223,099 (GRCm39) |
T104A |
possibly damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,289,760 (GRCm39) |
D209G |
possibly damaging |
Het |
| Ddx23 |
T |
C |
15: 98,546,570 (GRCm39) |
E533G |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,660,744 (GRCm39) |
|
probably null |
Het |
| Eif3l |
T |
G |
15: 78,968,336 (GRCm39) |
C202G |
probably benign |
Het |
| Ephx4 |
T |
G |
5: 107,577,612 (GRCm39) |
M312R |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,534,112 (GRCm39) |
|
probably null |
Het |
| Far2 |
G |
A |
6: 148,075,411 (GRCm39) |
D424N |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,489,221 (GRCm39) |
N3497K |
probably damaging |
Het |
| Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
| Fyb2 |
A |
T |
4: 104,870,499 (GRCm39) |
H700L |
probably benign |
Het |
| Gm8356 |
T |
A |
14: 17,691,282 (GRCm39) |
M128L |
probably benign |
Het |
| Golim4 |
G |
T |
3: 75,805,442 (GRCm39) |
|
probably null |
Het |
| Grm1 |
T |
G |
10: 10,622,403 (GRCm39) |
D440A |
probably benign |
Het |
| Gtf2a1 |
A |
G |
12: 91,529,747 (GRCm39) |
V322A |
probably benign |
Het |
| Hid1 |
T |
C |
11: 115,243,407 (GRCm39) |
|
probably null |
Het |
| Igfals |
G |
A |
17: 25,098,962 (GRCm39) |
V18M |
possibly damaging |
Het |
| Klk1b24 |
G |
T |
7: 43,839,688 (GRCm39) |
|
probably null |
Het |
| Lmbr1 |
T |
C |
5: 29,551,850 (GRCm39) |
|
probably benign |
Het |
| Lrrc40 |
T |
C |
3: 157,746,194 (GRCm39) |
S90P |
probably benign |
Het |
| Mapk9 |
T |
C |
11: 49,763,663 (GRCm39) |
Y185H |
probably damaging |
Het |
| Marveld2 |
C |
T |
13: 100,748,068 (GRCm39) |
G337D |
probably damaging |
Het |
| Mga |
G |
T |
2: 119,776,710 (GRCm39) |
R1539L |
probably damaging |
Het |
| Mllt6 |
T |
A |
11: 97,563,442 (GRCm39) |
S342T |
probably benign |
Het |
| Ms4a6c |
T |
C |
19: 11,449,893 (GRCm39) |
|
probably null |
Het |
| Muc16 |
T |
A |
9: 18,558,064 (GRCm39) |
H2743L |
unknown |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Or10ag60 |
T |
C |
2: 87,438,281 (GRCm39) |
F183S |
probably damaging |
Het |
| Or2l13 |
A |
G |
16: 19,305,753 (GRCm39) |
H55R |
possibly damaging |
Het |
| Prkch |
T |
A |
12: 73,632,301 (GRCm39) |
|
probably null |
Het |
| Rb1cc1 |
T |
C |
1: 6,344,441 (GRCm39) |
V1570A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,415,704 (GRCm39) |
N1803D |
probably benign |
Het |
| Rufy3 |
T |
A |
5: 88,746,331 (GRCm39) |
V72E |
probably benign |
Het |
| Secisbp2l |
G |
A |
2: 125,613,452 (GRCm39) |
Q181* |
probably null |
Het |
| Sgcb |
A |
G |
5: 73,797,188 (GRCm39) |
F191L |
possibly damaging |
Het |
| Sgsh |
T |
A |
11: 119,237,183 (GRCm39) |
D477V |
probably damaging |
Het |
| Shoc1 |
A |
T |
4: 59,062,286 (GRCm39) |
V924E |
probably damaging |
Het |
| Slc22a28 |
C |
A |
19: 8,048,492 (GRCm39) |
S385I |
probably benign |
Het |
| Slc26a3 |
T |
C |
12: 31,497,787 (GRCm39) |
V47A |
probably benign |
Het |
| Slco2a1 |
A |
T |
9: 102,945,185 (GRCm39) |
I187F |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,481,179 (GRCm39) |
S344P |
unknown |
Het |
| Sort1 |
A |
G |
3: 108,246,141 (GRCm39) |
T373A |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,882,274 (GRCm39) |
F474L |
probably benign |
Het |
| Tbc1d5 |
G |
T |
17: 51,224,573 (GRCm39) |
A326E |
possibly damaging |
Het |
| Tcstv4 |
A |
T |
13: 120,770,017 (GRCm39) |
K112N |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
G |
A |
15: 7,951,562 (GRCm39) |
T425I |
probably benign |
Het |
| Zfp30 |
T |
C |
7: 29,492,231 (GRCm39) |
Y243H |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,559 (GRCm39) |
N55K |
possibly damaging |
Het |
| Zftraf1 |
A |
G |
15: 76,530,435 (GRCm39) |
L295P |
probably damaging |
Het |
|
| Other mutations in Plcd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Plcd3
|
APN |
11 |
102,968,696 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01906:Plcd3
|
APN |
11 |
102,967,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02325:Plcd3
|
APN |
11 |
102,971,447 (GRCm39) |
nonsense |
probably null |
|
|
IGL02634:Plcd3
|
APN |
11 |
102,968,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02852:Plcd3
|
APN |
11 |
102,964,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03025:Plcd3
|
APN |
11 |
102,965,724 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02837:Plcd3
|
UTSW |
11 |
102,961,929 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02988:Plcd3
|
UTSW |
11 |
102,967,568 (GRCm39) |
missense |
probably benign |
|
|
R0055:Plcd3
|
UTSW |
11 |
102,968,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Plcd3
|
UTSW |
11 |
102,968,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Plcd3
|
UTSW |
11 |
102,965,720 (GRCm39) |
missense |
probably benign |
|
|
R0452:Plcd3
|
UTSW |
11 |
102,962,085 (GRCm39) |
unclassified |
probably benign |
|
|
R0529:Plcd3
|
UTSW |
11 |
102,971,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0556:Plcd3
|
UTSW |
11 |
102,968,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1463:Plcd3
|
UTSW |
11 |
102,969,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Plcd3
|
UTSW |
11 |
102,971,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2157:Plcd3
|
UTSW |
11 |
102,961,974 (GRCm39) |
missense |
probably benign |
|
|
R2519:Plcd3
|
UTSW |
11 |
102,971,226 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3809:Plcd3
|
UTSW |
11 |
102,992,209 (GRCm39) |
missense |
probably null |
0.03 |
|
R4167:Plcd3
|
UTSW |
11 |
102,969,290 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5100:Plcd3
|
UTSW |
11 |
102,969,175 (GRCm39) |
missense |
probably benign |
|
|
R5387:Plcd3
|
UTSW |
11 |
102,969,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5589:Plcd3
|
UTSW |
11 |
102,968,629 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5700:Plcd3
|
UTSW |
11 |
102,964,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5754:Plcd3
|
UTSW |
11 |
102,964,592 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5936:Plcd3
|
UTSW |
11 |
102,969,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6059:Plcd3
|
UTSW |
11 |
102,971,227 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6102:Plcd3
|
UTSW |
11 |
102,971,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6480:Plcd3
|
UTSW |
11 |
102,965,757 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6481:Plcd3
|
UTSW |
11 |
102,968,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6566:Plcd3
|
UTSW |
11 |
102,964,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7098:Plcd3
|
UTSW |
11 |
102,968,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7165:Plcd3
|
UTSW |
11 |
102,970,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7392:Plcd3
|
UTSW |
11 |
102,992,383 (GRCm39) |
unclassified |
probably benign |
|
|
R7606:Plcd3
|
UTSW |
11 |
102,967,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7777:Plcd3
|
UTSW |
11 |
102,965,481 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7857:Plcd3
|
UTSW |
11 |
102,968,760 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8349:Plcd3
|
UTSW |
11 |
102,965,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8449:Plcd3
|
UTSW |
11 |
102,965,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8786:Plcd3
|
UTSW |
11 |
102,962,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8848:Plcd3
|
UTSW |
11 |
102,971,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8894:Plcd3
|
UTSW |
11 |
102,962,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8983:Plcd3
|
UTSW |
11 |
102,962,092 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9252:Plcd3
|
UTSW |
11 |
102,968,380 (GRCm39) |
nonsense |
probably null |
|
|
R9253:Plcd3
|
UTSW |
11 |
102,970,460 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0023:Plcd3
|
UTSW |
11 |
102,971,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTCCTTCCTGCACAAATG -3'
(R):5'- CATTACCATCTGTCCAGCCTGG -3'
Sequencing Primer
(F):5'- ACAAATGCTCACCCGTGGG -3'
(R):5'- CAGCCTGGCTTTTCTGAATCTGAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation