Incidental Mutation 'R7121:Plcd4'
ID |
551979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcd4
|
Ensembl Gene |
ENSMUSG00000026173 |
Gene Name |
phospholipase C, delta 4 |
Synonyms |
4921507K24Rik |
MMRRC Submission |
045210-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7121 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
74581175-74605137 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 74604524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 767
(E767K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109379
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027315]
[ENSMUST00000027362]
[ENSMUST00000066986]
[ENSMUST00000067916]
[ENSMUST00000113737]
[ENSMUST00000113747]
[ENSMUST00000113749]
[ENSMUST00000113750]
[ENSMUST00000127921]
[ENSMUST00000141412]
[ENSMUST00000152707]
[ENSMUST00000156613]
|
AlphaFold |
Q8K3R3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027315
|
SMART Domains |
Protein: ENSMUSP00000027315 Gene: ENSMUSG00000026135
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
103 |
127 |
1.16e1 |
SMART |
ZnF_C2H2
|
164 |
186 |
1.26e-2 |
SMART |
ZnF_C2H2
|
193 |
218 |
7.78e-3 |
SMART |
ZnF_C2H2
|
223 |
247 |
2.29e0 |
SMART |
ZnF_C2H2
|
250 |
272 |
9.96e-1 |
SMART |
low complexity region
|
317 |
329 |
N/A |
INTRINSIC |
ZnF_C2H2
|
363 |
385 |
9.96e-1 |
SMART |
ZnF_C2H2
|
391 |
411 |
1.26e1 |
SMART |
ZnF_C2H2
|
419 |
442 |
1.47e-3 |
SMART |
ZnF_C2H2
|
453 |
475 |
2.75e-3 |
SMART |
ZnF_C2H2
|
486 |
511 |
3.34e-2 |
SMART |
ZnF_C2H2
|
516 |
540 |
4.81e0 |
SMART |
ZnF_C2H2
|
543 |
566 |
7.05e-1 |
SMART |
ZnF_C2H2
|
572 |
595 |
2.17e-1 |
SMART |
ZnF_C2H2
|
601 |
623 |
1.56e-2 |
SMART |
ZnF_C2H2
|
629 |
651 |
8.94e-3 |
SMART |
ZnF_C2H2
|
657 |
679 |
1.38e-3 |
SMART |
ZnF_C2H2
|
685 |
707 |
9.44e-2 |
SMART |
ZnF_C2H2
|
712 |
735 |
1.26e-2 |
SMART |
ZnF_C2H2
|
744 |
767 |
1.31e0 |
SMART |
ZnF_C2H2
|
773 |
796 |
2.63e0 |
SMART |
low complexity region
|
903 |
919 |
N/A |
INTRINSIC |
low complexity region
|
953 |
969 |
N/A |
INTRINSIC |
low complexity region
|
996 |
1007 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1039 |
1059 |
2.01e1 |
SMART |
ZnF_C2H2
|
1069 |
1089 |
1.91e1 |
SMART |
low complexity region
|
1147 |
1160 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1187 |
1207 |
2.7e2 |
SMART |
low complexity region
|
1209 |
1222 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1265 |
1285 |
3.56e1 |
SMART |
ZnF_C2H2
|
1295 |
1318 |
4.98e-1 |
SMART |
ZnF_C2H2
|
1331 |
1354 |
2.49e-1 |
SMART |
ZnF_C2H2
|
1360 |
1382 |
1.03e-2 |
SMART |
ZnF_C2H2
|
1388 |
1411 |
5.72e-1 |
SMART |
ZnF_C2H2
|
1417 |
1440 |
6.75e0 |
SMART |
ZnF_C2H2
|
1446 |
1469 |
9.58e-3 |
SMART |
ZnF_C2H2
|
1488 |
1511 |
1.64e-1 |
SMART |
ZnF_C2H2
|
1514 |
1536 |
1.1e-2 |
SMART |
ZnF_C2H2
|
1540 |
1563 |
4.05e-1 |
SMART |
ZnF_C2H2
|
1580 |
1602 |
4.45e0 |
SMART |
ZnF_C2H2
|
1608 |
1630 |
8.81e-2 |
SMART |
ZnF_C2H2
|
1636 |
1658 |
1.18e-2 |
SMART |
ZnF_C2H2
|
1664 |
1686 |
1.2e-3 |
SMART |
ZnF_C2H2
|
1692 |
1715 |
3.89e-3 |
SMART |
ZnF_C2H2
|
1721 |
1743 |
4.54e-4 |
SMART |
ZnF_C2H2
|
1749 |
1771 |
1.18e-2 |
SMART |
ZnF_C2H2
|
1777 |
1799 |
3.52e-1 |
SMART |
low complexity region
|
1829 |
1838 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000027362
|
SMART Domains |
Protein: ENSMUSP00000027362 Gene: ENSMUSG00000026173
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: ENSMUST00000066986
|
SMART Domains |
Protein: ENSMUSP00000065149 Gene: ENSMUSG00000026135
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
128 |
N/A |
INTRINSIC |
ZnF_C2H2
|
162 |
184 |
9.96e-1 |
SMART |
ZnF_C2H2
|
190 |
210 |
1.26e1 |
SMART |
ZnF_C2H2
|
218 |
241 |
1.47e-3 |
SMART |
ZnF_C2H2
|
252 |
274 |
2.75e-3 |
SMART |
ZnF_C2H2
|
285 |
310 |
3.34e-2 |
SMART |
ZnF_C2H2
|
315 |
339 |
4.81e0 |
SMART |
ZnF_C2H2
|
342 |
365 |
7.05e-1 |
SMART |
ZnF_C2H2
|
371 |
394 |
2.17e-1 |
SMART |
ZnF_C2H2
|
400 |
422 |
1.56e-2 |
SMART |
ZnF_C2H2
|
428 |
450 |
8.94e-3 |
SMART |
ZnF_C2H2
|
456 |
478 |
1.38e-3 |
SMART |
ZnF_C2H2
|
484 |
506 |
9.44e-2 |
SMART |
ZnF_C2H2
|
511 |
534 |
1.26e-2 |
SMART |
ZnF_C2H2
|
543 |
566 |
1.31e0 |
SMART |
ZnF_C2H2
|
572 |
595 |
2.63e0 |
SMART |
low complexity region
|
702 |
718 |
N/A |
INTRINSIC |
low complexity region
|
752 |
768 |
N/A |
INTRINSIC |
low complexity region
|
795 |
806 |
N/A |
INTRINSIC |
ZnF_C2H2
|
838 |
858 |
2.01e1 |
SMART |
ZnF_C2H2
|
868 |
888 |
1.91e1 |
SMART |
low complexity region
|
946 |
959 |
N/A |
INTRINSIC |
ZnF_C2H2
|
986 |
1006 |
2.7e2 |
SMART |
low complexity region
|
1008 |
1021 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1064 |
1084 |
3.56e1 |
SMART |
ZnF_C2H2
|
1094 |
1117 |
4.98e-1 |
SMART |
ZnF_C2H2
|
1130 |
1153 |
2.49e-1 |
SMART |
ZnF_C2H2
|
1159 |
1181 |
1.03e-2 |
SMART |
ZnF_C2H2
|
1187 |
1210 |
5.72e-1 |
SMART |
ZnF_C2H2
|
1216 |
1239 |
6.75e0 |
SMART |
ZnF_C2H2
|
1245 |
1268 |
9.58e-3 |
SMART |
ZnF_C2H2
|
1287 |
1310 |
1.64e-1 |
SMART |
ZnF_C2H2
|
1313 |
1335 |
1.1e-2 |
SMART |
ZnF_C2H2
|
1339 |
1362 |
4.05e-1 |
SMART |
ZnF_C2H2
|
1379 |
1401 |
4.45e0 |
SMART |
ZnF_C2H2
|
1407 |
1429 |
8.81e-2 |
SMART |
ZnF_C2H2
|
1435 |
1457 |
1.18e-2 |
SMART |
ZnF_C2H2
|
1463 |
1485 |
1.2e-3 |
SMART |
ZnF_C2H2
|
1491 |
1514 |
3.89e-3 |
SMART |
ZnF_C2H2
|
1520 |
1542 |
4.54e-4 |
SMART |
ZnF_C2H2
|
1548 |
1570 |
1.18e-2 |
SMART |
ZnF_C2H2
|
1576 |
1598 |
3.52e-1 |
SMART |
low complexity region
|
1628 |
1637 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000067916
|
SMART Domains |
Protein: ENSMUSP00000064413 Gene: ENSMUSG00000026173
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: ENSMUST00000113737
|
SMART Domains |
Protein: ENSMUSP00000109366 Gene: ENSMUSG00000026135
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
93 |
115 |
9.81e1 |
SMART |
ZnF_C2H2
|
120 |
144 |
2.29e0 |
SMART |
ZnF_C2H2
|
147 |
169 |
9.96e-1 |
SMART |
low complexity region
|
214 |
226 |
N/A |
INTRINSIC |
ZnF_C2H2
|
260 |
282 |
9.96e-1 |
SMART |
ZnF_C2H2
|
288 |
308 |
1.26e1 |
SMART |
ZnF_C2H2
|
316 |
339 |
1.47e-3 |
SMART |
ZnF_C2H2
|
350 |
372 |
2.75e-3 |
SMART |
ZnF_C2H2
|
383 |
408 |
3.34e-2 |
SMART |
ZnF_C2H2
|
413 |
437 |
4.81e0 |
SMART |
ZnF_C2H2
|
440 |
463 |
7.05e-1 |
SMART |
ZnF_C2H2
|
469 |
492 |
2.17e-1 |
SMART |
ZnF_C2H2
|
498 |
520 |
1.56e-2 |
SMART |
ZnF_C2H2
|
526 |
548 |
8.94e-3 |
SMART |
ZnF_C2H2
|
554 |
576 |
1.38e-3 |
SMART |
ZnF_C2H2
|
582 |
604 |
9.44e-2 |
SMART |
ZnF_C2H2
|
609 |
632 |
1.26e-2 |
SMART |
ZnF_C2H2
|
641 |
664 |
1.31e0 |
SMART |
ZnF_C2H2
|
670 |
693 |
2.63e0 |
SMART |
low complexity region
|
800 |
816 |
N/A |
INTRINSIC |
low complexity region
|
850 |
866 |
N/A |
INTRINSIC |
low complexity region
|
893 |
904 |
N/A |
INTRINSIC |
ZnF_C2H2
|
936 |
956 |
2.01e1 |
SMART |
ZnF_C2H2
|
966 |
986 |
1.91e1 |
SMART |
low complexity region
|
1044 |
1057 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1084 |
1104 |
2.7e2 |
SMART |
low complexity region
|
1106 |
1119 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1162 |
1182 |
3.56e1 |
SMART |
ZnF_C2H2
|
1192 |
1215 |
4.98e-1 |
SMART |
ZnF_C2H2
|
1228 |
1251 |
2.49e-1 |
SMART |
ZnF_C2H2
|
1257 |
1279 |
1.03e-2 |
SMART |
ZnF_C2H2
|
1285 |
1308 |
5.72e-1 |
SMART |
ZnF_C2H2
|
1314 |
1337 |
6.75e0 |
SMART |
ZnF_C2H2
|
1343 |
1366 |
9.58e-3 |
SMART |
ZnF_C2H2
|
1385 |
1408 |
1.64e-1 |
SMART |
ZnF_C2H2
|
1411 |
1433 |
1.1e-2 |
SMART |
ZnF_C2H2
|
1437 |
1460 |
4.05e-1 |
SMART |
ZnF_C2H2
|
1477 |
1499 |
4.45e0 |
SMART |
ZnF_C2H2
|
1505 |
1527 |
8.81e-2 |
SMART |
ZnF_C2H2
|
1533 |
1555 |
1.18e-2 |
SMART |
ZnF_C2H2
|
1561 |
1583 |
1.2e-3 |
SMART |
ZnF_C2H2
|
1589 |
1612 |
3.89e-3 |
SMART |
ZnF_C2H2
|
1618 |
1640 |
4.54e-4 |
SMART |
ZnF_C2H2
|
1646 |
1668 |
1.18e-2 |
SMART |
ZnF_C2H2
|
1674 |
1696 |
3.52e-1 |
SMART |
low complexity region
|
1726 |
1735 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000113747
|
SMART Domains |
Protein: ENSMUSP00000109376 Gene: ENSMUSG00000026173
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 |
silent
Transcript: ENSMUST00000113749
|
SMART Domains |
Protein: ENSMUSP00000109378 Gene: ENSMUSG00000026173
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: ENSMUST00000113750
AA Change: E767K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109379 Gene: ENSMUSG00000026173 AA Change: E767K
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 benign
Transcript: ENSMUST00000127921
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141412
|
SMART Domains |
Protein: ENSMUSP00000115322 Gene: ENSMUSG00000026173
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 benign
Transcript: ENSMUST00000152707
|
SMART Domains |
Protein: ENSMUSP00000121732 Gene: ENSMUSG00000026173
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 benign
Transcript: ENSMUST00000156613
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (71/72) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933411K16Rik |
C |
T |
19: 42,041,112 (GRCm39) |
A81V |
probably benign |
Het |
Abcc9 |
A |
T |
6: 142,634,853 (GRCm39) |
L137* |
probably null |
Het |
Akap10 |
A |
G |
11: 61,777,524 (GRCm39) |
|
probably null |
Het |
Alms1 |
T |
A |
6: 85,601,604 (GRCm39) |
Y1683N |
probably damaging |
Het |
Atl1 |
A |
G |
12: 69,978,408 (GRCm39) |
S127G |
probably damaging |
Het |
Cadm1 |
G |
A |
9: 47,710,708 (GRCm39) |
V204M |
probably damaging |
Het |
Cbr3 |
T |
A |
16: 93,487,438 (GRCm39) |
I207N |
probably damaging |
Het |
Ccdc148 |
A |
T |
2: 58,717,579 (GRCm39) |
Y475N |
probably damaging |
Het |
Ccdc33 |
A |
T |
9: 57,988,167 (GRCm39) |
S144T |
probably benign |
Het |
Ceacam5 |
C |
A |
7: 17,479,462 (GRCm39) |
A193E |
probably benign |
Het |
Chd2 |
T |
C |
7: 73,119,418 (GRCm39) |
D1042G |
probably benign |
Het |
Chmp5 |
A |
T |
4: 40,952,217 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
T |
A |
3: 144,717,567 (GRCm39) |
N467I |
probably damaging |
Het |
D130040H23Rik |
T |
C |
8: 69,754,931 (GRCm39) |
V112A |
probably damaging |
Het |
Dbh |
A |
T |
2: 27,058,318 (GRCm39) |
D162V |
probably damaging |
Het |
Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
Dnm2 |
C |
T |
9: 21,385,862 (GRCm39) |
T295I |
probably benign |
Het |
Faiml |
A |
C |
9: 99,116,446 (GRCm39) |
D81E |
probably benign |
Het |
Fer1l4 |
T |
A |
2: 155,886,477 (GRCm39) |
Y720F |
probably benign |
Het |
Fn1 |
A |
C |
1: 71,639,697 (GRCm39) |
|
probably benign |
Het |
Ftsj3 |
T |
C |
11: 106,143,123 (GRCm39) |
E397G |
probably damaging |
Het |
Gm16506 |
T |
C |
14: 43,964,817 (GRCm39) |
K42E |
|
Het |
Gpr179 |
A |
G |
11: 97,225,556 (GRCm39) |
S2200P |
probably benign |
Het |
Gusb |
T |
C |
5: 130,028,884 (GRCm39) |
D202G |
probably benign |
Het |
Hspe1 |
A |
G |
1: 55,128,310 (GRCm39) |
E35G |
probably damaging |
Het |
Kptn |
T |
A |
7: 15,857,023 (GRCm39) |
H170Q |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,595,839 (GRCm39) |
A923T |
probably benign |
Het |
Lmo7 |
T |
A |
14: 102,124,471 (GRCm39) |
I432K |
probably damaging |
Het |
Maneal |
G |
A |
4: 124,750,905 (GRCm39) |
P284S |
probably benign |
Het |
Mrgbp |
A |
G |
2: 180,224,682 (GRCm39) |
T28A |
probably benign |
Het |
Myo1h |
T |
C |
5: 114,476,290 (GRCm39) |
V493A |
|
Het |
Naxd |
T |
C |
8: 11,556,745 (GRCm39) |
L122P |
probably damaging |
Het |
Neto2 |
T |
C |
8: 86,397,020 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
A |
11: 58,904,078 (GRCm39) |
R7299* |
probably null |
Het |
Odf2l |
G |
A |
3: 144,845,581 (GRCm39) |
V363I |
possibly damaging |
Het |
Or2g25 |
T |
C |
17: 37,970,699 (GRCm39) |
H175R |
probably damaging |
Het |
Or2t35 |
A |
G |
14: 14,407,998 (GRCm38) |
T257A |
possibly damaging |
Het |
Or4c100 |
A |
T |
2: 88,356,170 (GRCm39) |
D81V |
probably damaging |
Het |
Or52a5b |
A |
T |
7: 103,416,940 (GRCm39) |
Y221* |
probably null |
Het |
Or5b105 |
T |
A |
19: 13,080,537 (GRCm39) |
I44F |
probably benign |
Het |
Otud3 |
G |
A |
4: 138,624,067 (GRCm39) |
P325L |
probably benign |
Het |
Palb2 |
T |
C |
7: 121,724,057 (GRCm39) |
N564S |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,263,761 (GRCm39) |
V401A |
possibly damaging |
Het |
Ppp3ca |
T |
C |
3: 136,574,387 (GRCm39) |
F95S |
probably damaging |
Het |
Prkar2a |
A |
G |
9: 108,569,821 (GRCm39) |
T56A |
probably benign |
Het |
Psma2 |
T |
A |
13: 14,799,815 (GRCm39) |
D186E |
probably benign |
Het |
Psmd11 |
T |
A |
11: 80,329,099 (GRCm39) |
Y72* |
probably null |
Het |
Ror1 |
G |
A |
4: 100,160,142 (GRCm39) |
D53N |
probably benign |
Het |
Rubcn |
C |
T |
16: 32,656,839 (GRCm39) |
R527Q |
probably damaging |
Het |
Sgca |
G |
A |
11: 94,860,373 (GRCm39) |
P255S |
possibly damaging |
Het |
Skint11 |
A |
T |
4: 114,084,993 (GRCm39) |
R167S |
probably benign |
Het |
Slco5a1 |
A |
G |
1: 13,060,661 (GRCm39) |
V20A |
probably benign |
Het |
Snai2 |
T |
C |
16: 14,524,970 (GRCm39) |
S159P |
probably benign |
Het |
Taar2 |
T |
G |
10: 23,816,725 (GRCm39) |
S88R |
probably damaging |
Het |
Tacc3 |
T |
A |
5: 33,824,509 (GRCm39) |
N378K |
possibly damaging |
Het |
Tek |
A |
G |
4: 94,699,647 (GRCm39) |
K342E |
probably benign |
Het |
Tm9sf3 |
G |
T |
19: 41,233,944 (GRCm39) |
S198* |
probably null |
Het |
Tmbim4 |
T |
A |
10: 120,051,514 (GRCm39) |
F56I |
possibly damaging |
Het |
Tsen34 |
T |
A |
7: 3,697,986 (GRCm39) |
S85T |
probably benign |
Het |
Ttc27 |
C |
A |
17: 75,054,710 (GRCm39) |
Q339K |
probably benign |
Het |
Ubap2 |
G |
T |
4: 41,205,550 (GRCm39) |
P636T |
probably benign |
Het |
Ubr1 |
G |
A |
2: 120,705,979 (GRCm39) |
L1495F |
probably benign |
Het |
Vsig10 |
T |
C |
5: 117,481,967 (GRCm39) |
S386P |
probably damaging |
Het |
Wnk2 |
C |
A |
13: 49,300,653 (GRCm39) |
R19L |
probably benign |
Het |
Wsb2 |
T |
C |
5: 117,508,944 (GRCm39) |
L126P |
probably damaging |
Het |
Xylb |
A |
G |
9: 119,211,358 (GRCm39) |
I402V |
probably benign |
Het |
Yrdc |
A |
G |
4: 124,744,748 (GRCm39) |
S61G |
probably benign |
Het |
Zbtb3 |
A |
G |
19: 8,780,771 (GRCm39) |
D128G |
probably damaging |
Het |
Zfp423 |
C |
T |
8: 88,507,489 (GRCm39) |
G952R |
probably damaging |
Het |
Zfp646 |
A |
G |
7: 127,478,944 (GRCm39) |
T374A |
possibly 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 |
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 |
|
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'- CAAACCTTGGACTCTTGGCC -3'
(R):5'- TCTCACATAAGAGTGCACAAAAGG -3'
Sequencing Primer
(F):5'- TGGCCAATATCCCAACTGTGG -3'
(R):5'- GAGCAGCTCACGCCTTTAATG -3'
|
Posted On |
2019-05-15 |