Incidental Mutation 'R4982:Pld1'
| ID |
384892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld1
|
| Ensembl Gene |
ENSMUSG00000027695 |
| Gene Name |
phospholipase D1 |
| Synonyms |
Pld1a, Pld1b |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4982 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
27992844-28187511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 28085447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 201
(A201D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067757]
[ENSMUST00000120834]
[ENSMUST00000123539]
[ENSMUST00000125338]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067757
AA Change: A201D
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: A201D
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
79 |
209 |
7.97e-25 |
SMART |
|
PH
|
220 |
330 |
5.71e-9 |
SMART |
|
PLDc
|
459 |
486 |
6.6e-6 |
SMART |
|
low complexity region
|
503 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
589 |
N/A |
INTRINSIC |
|
PLDc
|
853 |
880 |
1.34e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120834
AA Change: A201D
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: A201D
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
79 |
209 |
7.97e-25 |
SMART |
|
PH
|
220 |
330 |
5.71e-9 |
SMART |
|
PLDc
|
459 |
486 |
6.6e-6 |
SMART |
|
low complexity region
|
503 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
589 |
N/A |
INTRINSIC |
|
PLDc
|
853 |
880 |
1.34e-6 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123539
AA Change: A201D
|
| SMART Domains |
Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: A201D
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
79 |
209 |
7.97e-25 |
SMART |
|
PH
|
220 |
330 |
5.71e-9 |
SMART |
|
PLDc
|
459 |
486 |
6.6e-6 |
SMART |
|
low complexity region
|
503 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
586 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125338
|
| SMART Domains |
Protein: ENSMUSP00000121318
Gene: ENSMUSG00000027695
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
80 |
126 |
5e-9 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000148827
AA Change: A12D
|
| SMART Domains |
Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: A12D
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
32 |
142 |
5.71e-9 |
SMART |
|
PLDc
|
271 |
298 |
6.6e-6 |
SMART |
|
low complexity region
|
315 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
401 |
N/A |
INTRINSIC |
|
PLDc
|
665 |
715 |
2.5e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a null allele show reduced tumor growth and angiogenesis. Homozygotes for a second null allele show abnormal hepatic autophagy after food restriction. Homozygotes for a third null allele show altered platelet activation and protection from thrombosis and ischemic brain injury. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1) |
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,242,348 (GRCm39) |
I1404L |
possibly damaging |
Het |
| Adra1b |
A |
G |
11: 43,726,057 (GRCm39) |
S287P |
probably damaging |
Het |
| Atxn2 |
G |
T |
5: 121,952,406 (GRCm39) |
A1280S |
possibly damaging |
Het |
| Bbip1 |
T |
C |
19: 53,920,639 (GRCm39) |
|
probably null |
Het |
| Bbs2 |
A |
G |
8: 94,808,982 (GRCm39) |
|
probably null |
Het |
| Bcl11b |
A |
T |
12: 107,932,031 (GRCm39) |
C180* |
probably null |
Het |
| Bltp3a |
T |
C |
17: 28,105,580 (GRCm39) |
F702S |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,977,816 (GRCm39) |
V1166A |
probably benign |
Het |
| Bora |
C |
T |
14: 99,284,788 (GRCm39) |
P13S |
probably damaging |
Het |
| C2cd4c |
T |
C |
10: 79,449,075 (GRCm39) |
E24G |
probably benign |
Het |
| Ccne1 |
A |
T |
7: 37,799,996 (GRCm39) |
I196N |
probably damaging |
Het |
| Chsy3 |
C |
T |
18: 59,542,647 (GRCm39) |
S595L |
probably benign |
Het |
| Chsy3 |
T |
A |
18: 59,542,839 (GRCm39) |
I659N |
possibly damaging |
Het |
| Cntrob |
T |
A |
11: 69,202,188 (GRCm39) |
|
probably null |
Het |
| Col5a2 |
G |
A |
1: 45,428,618 (GRCm39) |
P983S |
possibly damaging |
Het |
| Crat |
T |
A |
2: 30,297,148 (GRCm39) |
|
probably null |
Het |
| Ctnnbl1 |
C |
T |
2: 157,678,473 (GRCm39) |
H359Y |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,085,732 (GRCm39) |
V83A |
possibly damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,593,902 (GRCm39) |
S488P |
possibly damaging |
Het |
| Dmrta1 |
T |
C |
4: 89,576,801 (GRCm39) |
C86R |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Fam171a1 |
G |
A |
2: 3,179,505 (GRCm39) |
|
probably null |
Het |
| Fam222b |
T |
C |
11: 78,045,569 (GRCm39) |
C249R |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,531,719 (GRCm39) |
|
probably benign |
Het |
| Fes |
T |
C |
7: 80,036,952 (GRCm39) |
Y44C |
probably damaging |
Het |
| Gimap6 |
A |
G |
6: 48,684,933 (GRCm39) |
V51A |
probably benign |
Het |
| Gpr75 |
C |
T |
11: 30,841,463 (GRCm39) |
L123F |
possibly damaging |
Het |
| Gpr75 |
C |
A |
11: 30,841,462 (GRCm39) |
H122Q |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,774,762 (GRCm39) |
S212P |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,665,512 (GRCm39) |
H1041R |
probably benign |
Het |
| Ifna5 |
A |
G |
4: 88,753,861 (GRCm39) |
N34D |
probably damaging |
Het |
| Ift140 |
A |
T |
17: 25,255,968 (GRCm39) |
H221L |
probably damaging |
Het |
| Igsf3 |
T |
C |
3: 101,342,983 (GRCm39) |
V540A |
probably benign |
Het |
| Il10ra |
A |
G |
9: 45,180,357 (GRCm39) |
L5S |
probably damaging |
Het |
| Klra2 |
A |
T |
6: 131,197,152 (GRCm39) |
D282E |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,900,539 (GRCm39) |
H3138Q |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 16,046,940 (GRCm39) |
T1689A |
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,831,694 (GRCm39) |
L1671M |
probably damaging |
Het |
| Mpped1 |
T |
C |
15: 83,720,528 (GRCm39) |
F71S |
probably damaging |
Het |
| Mtpap |
C |
A |
18: 4,396,332 (GRCm39) |
H541Q |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,363,193 (GRCm39) |
|
probably benign |
Het |
| Mybbp1a |
T |
C |
11: 72,336,040 (GRCm39) |
I451T |
probably damaging |
Het |
| Myh7 |
T |
A |
14: 55,210,224 (GRCm39) |
E1827V |
probably damaging |
Het |
| Or1j14 |
A |
T |
2: 36,417,409 (GRCm39) |
|
probably null |
Het |
| Or2h15 |
A |
T |
17: 38,441,468 (GRCm39) |
I205N |
probably damaging |
Het |
| Or5p75-ps1 |
T |
A |
7: 108,107,855 (GRCm39) |
Y197* |
probably null |
Het |
| Or8b8 |
C |
A |
9: 37,808,811 (GRCm39) |
T37N |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,956,920 (GRCm39) |
R23H |
possibly damaging |
Het |
| Otud6b |
A |
G |
4: 14,815,607 (GRCm39) |
L261P |
probably damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,802,476 (GRCm39) |
N107D |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,729,308 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Phtf1 |
T |
A |
3: 103,906,024 (GRCm39) |
S524T |
probably damaging |
Het |
| Pkdrej |
A |
C |
15: 85,703,197 (GRCm39) |
L913R |
probably damaging |
Het |
| Rorb |
T |
A |
19: 18,955,052 (GRCm39) |
Q103L |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,093,255 (GRCm39) |
T284M |
probably benign |
Het |
| Serpinb3b |
T |
C |
1: 107,085,484 (GRCm39) |
I86V |
probably benign |
Het |
| Serpinb6a |
A |
T |
13: 34,102,857 (GRCm39) |
M201K |
probably damaging |
Het |
| Snx8 |
A |
G |
5: 140,337,989 (GRCm39) |
S219P |
probably benign |
Het |
| Sp8 |
C |
T |
12: 118,812,160 (GRCm39) |
T5I |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,630,287 (GRCm39) |
N749D |
probably damaging |
Het |
| Tarm1 |
G |
C |
7: 3,537,612 (GRCm39) |
P284A |
probably damaging |
Het |
| Tbx15 |
A |
T |
3: 99,161,390 (GRCm39) |
E65V |
probably benign |
Het |
| Ticam1 |
T |
A |
17: 56,579,020 (GRCm39) |
H25L |
probably benign |
Het |
| Tmprss11g |
T |
A |
5: 86,640,674 (GRCm39) |
L170F |
probably damaging |
Het |
| Tnfsf9 |
A |
G |
17: 57,414,504 (GRCm39) |
*310W |
probably null |
Het |
| Tsks |
C |
T |
7: 44,593,418 (GRCm39) |
T128I |
possibly damaging |
Het |
| Vmn1r175 |
A |
T |
7: 23,508,494 (GRCm39) |
N44K |
possibly damaging |
Het |
| Vmn1r45 |
A |
G |
6: 89,910,847 (GRCm39) |
I41T |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 45,004,532 (GRCm39) |
N1102S |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pld1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Pld1
|
APN |
3 |
28,099,247 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01090:Pld1
|
APN |
3 |
28,142,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01140:Pld1
|
APN |
3 |
28,132,386 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01646:Pld1
|
APN |
3 |
28,153,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01830:Pld1
|
APN |
3 |
28,102,153 (GRCm39) |
splice site |
probably benign |
|
|
IGL01946:Pld1
|
APN |
3 |
28,178,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02139:Pld1
|
APN |
3 |
28,174,961 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02189:Pld1
|
APN |
3 |
28,174,932 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02476:Pld1
|
APN |
3 |
28,102,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02540:Pld1
|
APN |
3 |
28,083,309 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02649:Pld1
|
APN |
3 |
28,141,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02720:Pld1
|
APN |
3 |
28,141,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02831:Pld1
|
APN |
3 |
28,130,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02953:Pld1
|
APN |
3 |
28,166,396 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03005:Pld1
|
APN |
3 |
28,141,402 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03251:Pld1
|
APN |
3 |
28,142,814 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03331:Pld1
|
APN |
3 |
28,139,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
A9681:Pld1
|
UTSW |
3 |
28,139,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03134:Pld1
|
UTSW |
3 |
28,083,316 (GRCm39) |
missense |
probably benign |
0.01 |
|
P0023:Pld1
|
UTSW |
3 |
28,102,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Pld1
|
UTSW |
3 |
28,150,033 (GRCm39) |
splice site |
probably benign |
|
|
R0054:Pld1
|
UTSW |
3 |
28,150,033 (GRCm39) |
splice site |
probably benign |
|
|
R0282:Pld1
|
UTSW |
3 |
28,132,422 (GRCm39) |
missense |
probably benign |
|
|
R0372:Pld1
|
UTSW |
3 |
28,142,787 (GRCm39) |
splice site |
probably null |
|
|
R0454:Pld1
|
UTSW |
3 |
28,178,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Pld1
|
UTSW |
3 |
28,163,966 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0505:Pld1
|
UTSW |
3 |
28,174,971 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0667:Pld1
|
UTSW |
3 |
28,133,327 (GRCm39) |
splice site |
probably null |
|
|
R0678:Pld1
|
UTSW |
3 |
28,174,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0980:Pld1
|
UTSW |
3 |
28,178,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1200:Pld1
|
UTSW |
3 |
28,103,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1235:Pld1
|
UTSW |
3 |
28,082,883 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1657:Pld1
|
UTSW |
3 |
28,125,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1670:Pld1
|
UTSW |
3 |
28,103,389 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1705:Pld1
|
UTSW |
3 |
28,125,426 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1815:Pld1
|
UTSW |
3 |
28,163,917 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2215:Pld1
|
UTSW |
3 |
28,132,542 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3435:Pld1
|
UTSW |
3 |
28,178,772 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3522:Pld1
|
UTSW |
3 |
28,085,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4206:Pld1
|
UTSW |
3 |
28,174,932 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4553:Pld1
|
UTSW |
3 |
28,178,851 (GRCm39) |
missense |
probably benign |
|
|
R4612:Pld1
|
UTSW |
3 |
28,185,882 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4623:Pld1
|
UTSW |
3 |
28,083,393 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4840:Pld1
|
UTSW |
3 |
28,130,700 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4869:Pld1
|
UTSW |
3 |
28,163,951 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5087:Pld1
|
UTSW |
3 |
28,178,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5182:Pld1
|
UTSW |
3 |
28,099,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Pld1
|
UTSW |
3 |
28,079,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Pld1
|
UTSW |
3 |
28,149,954 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6345:Pld1
|
UTSW |
3 |
28,184,896 (GRCm39) |
intron |
probably benign |
|
|
R6692:Pld1
|
UTSW |
3 |
28,095,348 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6881:Pld1
|
UTSW |
3 |
28,132,563 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7197:Pld1
|
UTSW |
3 |
28,078,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Pld1
|
UTSW |
3 |
28,130,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7284:Pld1
|
UTSW |
3 |
28,185,882 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7293:Pld1
|
UTSW |
3 |
28,141,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7440:Pld1
|
UTSW |
3 |
28,095,419 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7524:Pld1
|
UTSW |
3 |
28,078,470 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7747:Pld1
|
UTSW |
3 |
28,141,338 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7882:Pld1
|
UTSW |
3 |
28,099,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7936:Pld1
|
UTSW |
3 |
28,130,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8033:Pld1
|
UTSW |
3 |
28,083,359 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8269:Pld1
|
UTSW |
3 |
28,079,388 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8316:Pld1
|
UTSW |
3 |
28,078,361 (GRCm39) |
missense |
probably benign |
|
|
R8427:Pld1
|
UTSW |
3 |
28,142,795 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8523:Pld1
|
UTSW |
3 |
28,140,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8832:Pld1
|
UTSW |
3 |
28,177,846 (GRCm39) |
missense |
|
|
|
R8850:Pld1
|
UTSW |
3 |
28,166,439 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9143:Pld1
|
UTSW |
3 |
28,132,643 (GRCm39) |
intron |
probably benign |
|
|
R9549:Pld1
|
UTSW |
3 |
28,125,381 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9648:Pld1
|
UTSW |
3 |
28,174,900 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Pld1
|
UTSW |
3 |
28,083,392 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Pld1
|
UTSW |
3 |
28,185,726 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Pld1
|
UTSW |
3 |
28,130,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCTAACACTCCAAGAGAACAGTG -3'
(R):5'- CGTCATCGTTATAAACTGGATCG -3'
Sequencing Primer
(F):5'- GTGTGCATACTACTTAACGATAGAGC -3'
(R):5'- CGTTATAAACTGGATCGAGACTCTCC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation