Incidental Mutation 'IGL02174:Pld5'
| ID |
283035 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pld5
|
| Ensembl Gene |
ENSMUSG00000055214 |
| Gene Name |
phospholipase D family member 5 |
| Synonyms |
B230365F16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02174
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
175789872-176102878 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 176102310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 44
(V44A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065967]
[ENSMUST00000111166]
[ENSMUST00000125404]
|
| AlphaFold |
Q3UNN8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065967
AA Change: V44A
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
AA Change: V44A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
PLDc
|
215 |
242 |
3.62e-3 |
SMART |
|
Pfam:PLDc_3
|
245 |
421 |
2e-101 |
PFAM |
|
PLDc
|
434 |
460 |
6.11e0 |
SMART |
|
low complexity region
|
511 |
521 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111166
AA Change: V44A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000125404
AA Change: V44A
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121428
Gene: ENSMUSG00000055214
AA Change: V44A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193484
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,738,154 (GRCm39) |
I1199V |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,575,783 (GRCm39) |
T4861I |
probably benign |
Het |
| Ampd2 |
T |
C |
3: 107,987,601 (GRCm39) |
D108G |
probably damaging |
Het |
| Azin1 |
A |
G |
15: 38,493,730 (GRCm39) |
F298L |
probably benign |
Het |
| Bag1 |
T |
A |
4: 40,941,555 (GRCm39) |
E123D |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,128,339 (GRCm39) |
E330G |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,940,938 (GRCm39) |
K435E |
probably benign |
Het |
| Clip2 |
T |
G |
5: 134,523,118 (GRCm39) |
K943T |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,185,415 (GRCm39) |
I3527V |
possibly damaging |
Het |
| Cyp2w1 |
C |
T |
5: 139,341,384 (GRCm39) |
R244C |
probably benign |
Het |
| Dcaf13 |
C |
A |
15: 39,001,544 (GRCm39) |
A284E |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,749,041 (GRCm39) |
L279Q |
probably damaging |
Het |
| Dgki |
A |
G |
6: 37,009,856 (GRCm39) |
L497P |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,428,072 (GRCm39) |
I233F |
probably benign |
Het |
| Dpp6 |
G |
T |
5: 27,926,085 (GRCm39) |
G720* |
probably null |
Het |
| Emc1 |
T |
C |
4: 139,098,979 (GRCm39) |
Y821H |
possibly damaging |
Het |
| Esr1 |
C |
T |
10: 4,948,003 (GRCm39) |
R519W |
probably damaging |
Het |
| Gamt |
A |
T |
10: 80,094,230 (GRCm39) |
V227E |
possibly damaging |
Het |
| Habp2 |
A |
G |
19: 56,300,169 (GRCm39) |
Q206R |
probably damaging |
Het |
| Ihh |
A |
G |
1: 74,990,105 (GRCm39) |
I90T |
probably damaging |
Het |
| Kif20b |
T |
C |
19: 34,911,858 (GRCm39) |
|
probably benign |
Het |
| Lcp2 |
T |
C |
11: 34,000,966 (GRCm39) |
|
probably benign |
Het |
| Lyrm2 |
A |
G |
4: 32,800,649 (GRCm39) |
I29V |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,385,587 (GRCm39) |
D1168G |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,828,953 (GRCm39) |
S753P |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,337,204 (GRCm39) |
E367G |
probably benign |
Het |
| Ndor1 |
G |
A |
2: 25,139,206 (GRCm39) |
A255V |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,683 (GRCm39) |
P148S |
probably damaging |
Het |
| Or4c121 |
A |
T |
2: 89,023,712 (GRCm39) |
F222Y |
probably benign |
Het |
| Or5al7 |
T |
A |
2: 85,992,442 (GRCm39) |
M284L |
possibly damaging |
Het |
| Or6z7 |
T |
C |
7: 6,483,438 (GRCm39) |
Y239C |
probably benign |
Het |
| Or8b41 |
A |
T |
9: 38,055,081 (GRCm39) |
T217S |
possibly damaging |
Het |
| Pappa2 |
C |
T |
1: 158,589,188 (GRCm39) |
C1679Y |
probably damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,551 (GRCm39) |
I508N |
probably damaging |
Het |
| Pkd2l1 |
G |
A |
19: 44,145,707 (GRCm39) |
T172I |
probably benign |
Het |
| Prss44 |
T |
C |
9: 110,646,199 (GRCm39) |
W309R |
probably damaging |
Het |
| Rc3h2 |
A |
T |
2: 37,301,237 (GRCm39) |
N88K |
probably benign |
Het |
| Rspry1 |
A |
G |
8: 95,359,768 (GRCm39) |
I102M |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,695,606 (GRCm39) |
|
probably null |
Het |
| Tbx3 |
C |
A |
5: 119,813,649 (GRCm39) |
Y228* |
probably null |
Het |
| Tcf15 |
G |
T |
2: 151,986,065 (GRCm39) |
|
probably benign |
Het |
| Tmem41b |
A |
G |
7: 109,578,003 (GRCm39) |
S94P |
possibly damaging |
Het |
| Trmt10b |
A |
T |
4: 45,308,508 (GRCm39) |
I223F |
possibly damaging |
Het |
| Tyrp1 |
G |
T |
4: 80,763,063 (GRCm39) |
G317* |
probably null |
Het |
| Urod |
T |
A |
4: 116,847,479 (GRCm39) |
|
probably benign |
Het |
| Vwf |
G |
T |
6: 125,532,358 (GRCm39) |
R52L |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,210,643 (GRCm39) |
Q232H |
probably damaging |
Het |
| Zbtb10 |
C |
A |
3: 9,316,872 (GRCm39) |
P228Q |
probably damaging |
Het |
| Zfp764l1 |
G |
A |
7: 126,991,525 (GRCm39) |
T154I |
possibly damaging |
Het |
|
| Other mutations in Pld5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Pld5
|
APN |
1 |
175,967,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00949:Pld5
|
APN |
1 |
175,803,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01067:Pld5
|
APN |
1 |
176,102,445 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02380:Pld5
|
APN |
1 |
175,967,610 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02879:Pld5
|
APN |
1 |
175,798,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0087:Pld5
|
UTSW |
1 |
175,812,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0135:Pld5
|
UTSW |
1 |
175,798,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0144:Pld5
|
UTSW |
1 |
175,798,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0362:Pld5
|
UTSW |
1 |
175,803,146 (GRCm39) |
nonsense |
probably null |
|
|
R0453:Pld5
|
UTSW |
1 |
175,917,522 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0454:Pld5
|
UTSW |
1 |
176,102,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0722:Pld5
|
UTSW |
1 |
175,803,081 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0751:Pld5
|
UTSW |
1 |
175,872,462 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0785:Pld5
|
UTSW |
1 |
175,803,018 (GRCm39) |
splice site |
probably benign |
|
|
R1184:Pld5
|
UTSW |
1 |
175,872,462 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1501:Pld5
|
UTSW |
1 |
175,803,087 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1644:Pld5
|
UTSW |
1 |
175,803,192 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2012:Pld5
|
UTSW |
1 |
175,791,579 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2426:Pld5
|
UTSW |
1 |
175,791,542 (GRCm39) |
missense |
probably benign |
|
|
R3508:Pld5
|
UTSW |
1 |
175,821,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3917:Pld5
|
UTSW |
1 |
175,791,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4207:Pld5
|
UTSW |
1 |
175,821,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4373:Pld5
|
UTSW |
1 |
175,967,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4828:Pld5
|
UTSW |
1 |
176,102,433 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4831:Pld5
|
UTSW |
1 |
176,102,450 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5861:Pld5
|
UTSW |
1 |
175,917,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Pld5
|
UTSW |
1 |
175,872,420 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6191:Pld5
|
UTSW |
1 |
175,798,100 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6246:Pld5
|
UTSW |
1 |
175,791,475 (GRCm39) |
nonsense |
probably null |
|
|
R6737:Pld5
|
UTSW |
1 |
175,917,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Pld5
|
UTSW |
1 |
175,917,442 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7164:Pld5
|
UTSW |
1 |
176,041,187 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R7237:Pld5
|
UTSW |
1 |
176,102,301 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7635:Pld5
|
UTSW |
1 |
175,821,416 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7805:Pld5
|
UTSW |
1 |
175,872,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7967:Pld5
|
UTSW |
1 |
176,102,264 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8038:Pld5
|
UTSW |
1 |
175,872,463 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8995:Pld5
|
UTSW |
1 |
175,791,580 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9033:Pld5
|
UTSW |
1 |
175,967,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9067:Pld5
|
UTSW |
1 |
175,917,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9156:Pld5
|
UTSW |
1 |
175,902,003 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9156:Pld5
|
UTSW |
1 |
175,803,104 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9712:Pld5
|
UTSW |
1 |
175,791,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0004:Pld5
|
UTSW |
1 |
176,089,088 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation