Incidental Mutation 'R7344:Plcd4'
ID |
570066 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcd4
|
Ensembl Gene |
ENSMUSG00000026173 |
Gene Name |
phospholipase C, delta 4 |
Synonyms |
4921507K24Rik |
MMRRC Submission |
045434-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7344 (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 74593811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 312
(D312V)
|
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 damaging
Transcript: ENSMUST00000027362
AA Change: D312V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027362 Gene: ENSMUSG00000026173 AA Change: D312V
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: D312V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000064413 Gene: ENSMUSG00000026173 AA Change: D312V
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: D312V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109376 Gene: ENSMUSG00000026173 AA Change: D312V
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: ENSMUST00000113749
AA Change: D312V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109378 Gene: ENSMUSG00000026173 AA Change: D312V
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: ENSMUST00000113750
AA Change: D312V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000109379 Gene: ENSMUSG00000026173 AA Change: D312V
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: D312V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115322 Gene: ENSMUSG00000026173 AA Change: D312V
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: D312V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121732 Gene: ENSMUSG00000026173 AA Change: D312V
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: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (58/58) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
A |
C |
11: 58,182,273 (GRCm39) |
Y216S |
|
Het |
Anpep |
G |
T |
7: 79,488,398 (GRCm39) |
S477R |
possibly damaging |
Het |
Atp7b |
T |
C |
8: 22,487,515 (GRCm39) |
D1293G |
probably damaging |
Het |
Caprin2 |
A |
G |
6: 148,774,565 (GRCm39) |
V249A |
probably benign |
Het |
Cep41 |
C |
T |
6: 30,693,655 (GRCm39) |
R5K |
probably benign |
Het |
Cyp2c23 |
A |
T |
19: 44,010,176 (GRCm39) |
|
probably null |
Het |
Dazap2 |
T |
A |
15: 100,514,824 (GRCm39) |
V15E |
possibly damaging |
Het |
Ecpas |
A |
T |
4: 58,824,770 (GRCm39) |
D1070E |
probably benign |
Het |
Epha8 |
T |
A |
4: 136,661,849 (GRCm39) |
H582L |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,643,074 (GRCm39) |
T1513A |
possibly damaging |
Het |
Fancd2 |
T |
C |
6: 113,545,670 (GRCm39) |
V901A |
probably benign |
Het |
Fbl |
T |
A |
7: 27,878,360 (GRCm39) |
V284E |
probably damaging |
Het |
Fbln2 |
A |
G |
6: 91,246,955 (GRCm39) |
E1065G |
probably damaging |
Het |
Fbxw16 |
A |
G |
9: 109,278,103 (GRCm39) |
V25A |
probably benign |
Het |
Fcgbpl1 |
C |
T |
7: 27,852,185 (GRCm39) |
T1236I |
possibly damaging |
Het |
Fcgbpl1 |
T |
C |
7: 27,839,704 (GRCm39) |
S506P |
possibly damaging |
Het |
Gm11562 |
T |
G |
11: 99,511,195 (GRCm39) |
T2P |
unknown |
Het |
Gm17728 |
G |
T |
17: 9,640,955 (GRCm39) |
G22W |
probably damaging |
Het |
Gm30083 |
A |
G |
14: 33,721,537 (GRCm39) |
Y190H |
probably benign |
Het |
Gm6793 |
T |
A |
8: 112,741,561 (GRCm39) |
D27V |
probably damaging |
Het |
Gm7324 |
A |
G |
14: 43,952,134 (GRCm39) |
D259G |
probably benign |
Het |
Gtf2a1l |
G |
A |
17: 89,001,531 (GRCm39) |
G129D |
probably damaging |
Het |
Ildr2 |
T |
A |
1: 166,122,166 (GRCm39) |
V203E |
probably damaging |
Het |
Ipo4 |
C |
T |
14: 55,872,988 (GRCm39) |
R23Q |
probably benign |
Het |
Irx5 |
A |
G |
8: 93,086,183 (GRCm39) |
T89A |
probably benign |
Het |
Itga7 |
A |
G |
10: 128,776,798 (GRCm39) |
N221S |
possibly damaging |
Het |
Lpcat2 |
T |
C |
8: 93,602,195 (GRCm39) |
W259R |
probably damaging |
Het |
Lrrc8e |
C |
T |
8: 4,284,815 (GRCm39) |
R347C |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,881,140 (GRCm39) |
D2790E |
probably benign |
Het |
Magi2 |
G |
A |
5: 20,755,238 (GRCm39) |
R604Q |
probably benign |
Het |
Mertk |
C |
A |
2: 128,613,417 (GRCm39) |
H478N |
probably benign |
Het |
Mical3 |
T |
A |
6: 121,013,505 (GRCm39) |
K293* |
probably null |
Het |
Nod2 |
T |
C |
8: 89,387,210 (GRCm39) |
L168P |
probably damaging |
Het |
Npnt |
T |
C |
3: 132,614,100 (GRCm39) |
|
probably null |
Het |
Or1x6 |
T |
G |
11: 50,939,122 (GRCm39) |
F63V |
probably damaging |
Het |
Or5af1 |
A |
T |
11: 58,722,308 (GRCm39) |
E109D |
probably damaging |
Het |
Or8b37 |
T |
C |
9: 37,959,253 (GRCm39) |
M245T |
probably benign |
Het |
Or9g4 |
A |
T |
2: 85,505,275 (GRCm39) |
Y73* |
probably null |
Het |
Prss58 |
A |
G |
6: 40,872,399 (GRCm39) |
I208T |
probably damaging |
Het |
Pus7l |
A |
G |
15: 94,438,498 (GRCm39) |
S116P |
probably benign |
Het |
Rcc1l |
A |
T |
5: 134,205,276 (GRCm39) |
I93N |
probably benign |
Het |
Rftn2 |
A |
C |
1: 55,265,311 (GRCm39) |
Y36* |
probably null |
Het |
Rp1l1 |
G |
A |
14: 64,267,069 (GRCm39) |
R885Q |
probably benign |
Het |
Rpgrip1 |
A |
T |
14: 52,378,116 (GRCm39) |
D488V |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,444,893 (GRCm39) |
Y2313C |
possibly damaging |
Het |
Scrib |
T |
C |
15: 75,921,107 (GRCm39) |
Y1332C |
probably damaging |
Het |
Serpinb10 |
T |
C |
1: 107,468,672 (GRCm39) |
V105A |
probably damaging |
Het |
Slc35d1 |
A |
T |
4: 103,070,243 (GRCm39) |
|
probably null |
Het |
Slfn3 |
T |
C |
11: 83,103,648 (GRCm39) |
V173A |
probably benign |
Het |
Smpd3 |
C |
T |
8: 106,991,825 (GRCm39) |
V243M |
probably damaging |
Het |
Stard9 |
A |
T |
2: 120,535,167 (GRCm39) |
D3808V |
possibly damaging |
Het |
Supt16 |
A |
T |
14: 52,411,028 (GRCm39) |
V692D |
probably damaging |
Het |
Tapt1 |
A |
T |
5: 44,345,999 (GRCm39) |
V317E |
probably damaging |
Het |
Vmn2r101 |
T |
C |
17: 19,832,059 (GRCm39) |
I685T |
probably benign |
Het |
Vmn2r92 |
A |
G |
17: 18,387,513 (GRCm39) |
I173V |
probably benign |
Het |
Vps54 |
T |
C |
11: 21,224,999 (GRCm39) |
I165T |
probably damaging |
Het |
Zswim4 |
G |
A |
8: 84,950,327 (GRCm39) |
R628* |
probably null |
Het |
Zzz3 |
T |
C |
3: 152,157,736 (GRCm39) |
S770P |
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 |
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'- CATAGGCCGATTGCTGCATG -3'
(R):5'- GTGACAGAGAGGATTCCATTTATCC -3'
Sequencing Primer
(F):5'- GCTGCATGTGCTGAGCAAG -3'
(R):5'- GCTAATGCCTAAGATGGTCTCCAAG -3'
|
Posted On |
2019-09-13 |