Incidental Mutation 'R1657:Pld1'
| ID |
186448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld1
|
| Ensembl Gene |
ENSMUSG00000027695 |
| Gene Name |
phospholipase D1 |
| Synonyms |
Pld1a, Pld1b |
| MMRRC Submission |
039693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1657 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
27992844-28187511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28125336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 417
(I417L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067757]
[ENSMUST00000120834]
[ENSMUST00000123539]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067757
AA Change: I417L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: I417L
| 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 benign
Transcript: ENSMUST00000120834
AA Change: I417L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: I417L
| 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: I417L
|
| SMART Domains |
Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: I417L
| 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 |
noncoding transcript
Transcript: ENSMUST00000131842
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000148827
AA Change: I228L
|
| SMART Domains |
Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: I228L
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
G |
11: 84,154,910 (GRCm39) |
D988E |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,219,760 (GRCm39) |
V1185A |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,375,029 (GRCm39) |
V391A |
probably damaging |
Het |
| Armh4 |
G |
C |
14: 50,011,017 (GRCm39) |
T230S |
probably damaging |
Het |
| Caprin1 |
A |
T |
2: 103,599,851 (GRCm39) |
V608E |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,720,151 (GRCm39) |
C2512* |
probably null |
Het |
| Cfl1 |
A |
T |
19: 5,543,583 (GRCm39) |
R187W |
probably damaging |
Het |
| Cgnl1 |
C |
T |
9: 71,633,226 (GRCm39) |
V42I |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,130,178 (GRCm39) |
Y826H |
probably damaging |
Het |
| Col9a2 |
C |
A |
4: 120,898,171 (GRCm39) |
P28T |
unknown |
Het |
| Cyp3a44 |
G |
A |
5: 145,716,553 (GRCm39) |
P346S |
probably damaging |
Het |
| Dact2 |
A |
G |
17: 14,418,252 (GRCm39) |
V151A |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,089,377 (GRCm39) |
I716T |
probably damaging |
Het |
| Entrep1 |
C |
A |
19: 23,952,999 (GRCm39) |
C437F |
probably damaging |
Het |
| Esam |
T |
C |
9: 37,448,917 (GRCm39) |
S342P |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,877,518 (GRCm39) |
V1053A |
possibly damaging |
Het |
| Grk3 |
A |
G |
5: 113,114,848 (GRCm39) |
F124S |
probably damaging |
Het |
| H2-DMa |
G |
A |
17: 34,356,373 (GRCm39) |
|
probably null |
Het |
| Hsd3b5 |
T |
A |
3: 98,527,036 (GRCm39) |
I137F |
possibly damaging |
Het |
| Itgav |
A |
T |
2: 83,632,123 (GRCm39) |
I902F |
probably benign |
Het |
| Itsn1 |
G |
T |
16: 91,706,111 (GRCm39) |
C179F |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,146,153 (GRCm39) |
R347H |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,319,034 (GRCm39) |
M166T |
possibly damaging |
Het |
| Kmt5c |
C |
T |
7: 4,749,453 (GRCm39) |
Q324* |
probably null |
Het |
| Lcn9 |
G |
A |
2: 25,714,722 (GRCm39) |
E154K |
probably benign |
Het |
| Mfge8 |
A |
T |
7: 78,791,521 (GRCm39) |
L227Q |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,960,525 (GRCm39) |
R753* |
probably null |
Het |
| Mtif2 |
G |
A |
11: 29,490,721 (GRCm39) |
R475Q |
probably benign |
Het |
| Nln |
C |
T |
13: 104,173,455 (GRCm39) |
V584I |
possibly damaging |
Het |
| Nr2e3 |
T |
C |
9: 59,856,050 (GRCm39) |
E129G |
probably benign |
Het |
| Ocstamp |
T |
C |
2: 165,239,436 (GRCm39) |
D250G |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,722 (GRCm39) |
H131L |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,144,584 (GRCm39) |
I284T |
possibly damaging |
Het |
| Or8k27 |
A |
C |
2: 86,275,562 (GRCm39) |
L255V |
probably damaging |
Het |
| Polr1a |
A |
T |
6: 71,918,519 (GRCm39) |
K692N |
probably damaging |
Het |
| Qsox2 |
A |
T |
2: 26,110,759 (GRCm39) |
Y152* |
probably null |
Het |
| Rpap1 |
T |
C |
2: 119,614,259 (GRCm39) |
D46G |
possibly damaging |
Het |
| Rpe65 |
A |
G |
3: 159,320,085 (GRCm39) |
T246A |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,391,446 (GRCm39) |
D82G |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,634,941 (GRCm39) |
E669G |
possibly damaging |
Het |
| Serpinb6c |
T |
C |
13: 34,064,209 (GRCm39) |
N282S |
probably benign |
Het |
| Snap47 |
A |
T |
11: 59,319,596 (GRCm39) |
S181T |
probably benign |
Het |
| Snx9 |
A |
C |
17: 5,968,711 (GRCm39) |
T336P |
possibly damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Terb1 |
A |
T |
8: 105,215,123 (GRCm39) |
D284E |
possibly damaging |
Het |
| Tmem266 |
C |
T |
9: 55,325,292 (GRCm39) |
A153V |
probably damaging |
Het |
| Trappc2b |
T |
C |
11: 51,576,505 (GRCm39) |
Q131R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,573,148 (GRCm39) |
E25915G |
possibly damaging |
Het |
| Tubal3 |
A |
G |
13: 3,983,011 (GRCm39) |
T264A |
possibly damaging |
Het |
| Vldlr |
G |
A |
19: 27,223,070 (GRCm39) |
R747Q |
probably benign |
Het |
| Zc3h8 |
G |
T |
2: 128,771,877 (GRCm39) |
|
probably benign |
Het |
| Zfp184 |
C |
T |
13: 22,143,443 (GRCm39) |
T383M |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,346,703 (GRCm39) |
F38S |
possibly damaging |
Het |
| Zfp746 |
A |
G |
6: 48,059,108 (GRCm39) |
V167A |
possibly damaging |
Het |
| Zfp985 |
T |
A |
4: 147,668,567 (GRCm39) |
N478K |
probably benign |
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 |
|
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 |
|
R4982:Pld1
|
UTSW |
3 |
28,085,447 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- ACTTTCAGGCATTGGTCTCTGCAC -3'
(R):5'- GCCACGGATGCAAAATAAAGGCTAC -3'
Sequencing Primer
(F):5'- tttttcctgactccacctcc -3'
(R):5'- GTATGTGTGAAATACCCATGCC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation