Incidental Mutation 'R7164:Pld5'
| ID |
557775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld5
|
| Ensembl Gene |
ENSMUSG00000055214 |
| Gene Name |
phospholipase D family member 5 |
| Synonyms |
B230365F16Rik |
| MMRRC Submission |
045331-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7164 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
175789872-176102878 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 176041187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065967]
[ENSMUST00000111167]
[ENSMUST00000125404]
|
| AlphaFold |
Q3UNN8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065967
|
| SMART Domains |
Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
| 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 |
probably null
Transcript: ENSMUST00000111167
AA Change: M1K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
PLDc
|
153 |
180 |
3.62e-3 |
SMART |
|
PLDc
|
372 |
398 |
6.11e0 |
SMART |
|
low complexity region
|
449 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125404
|
| SMART Domains |
Protein: ENSMUSP00000121428
Gene: ENSMUSG00000055214
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8235 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (59/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
G |
A |
13: 12,293,847 (GRCm39) |
H558Y |
probably damaging |
Het |
| Ajm1 |
T |
A |
2: 25,468,579 (GRCm39) |
H444L |
possibly damaging |
Het |
| Akap9 |
G |
C |
5: 4,110,364 (GRCm39) |
E3022D |
probably damaging |
Het |
| Anapc2 |
C |
T |
2: 25,175,011 (GRCm39) |
R710C |
probably damaging |
Het |
| Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
| Carmil3 |
A |
G |
14: 55,738,739 (GRCm39) |
E844G |
probably damaging |
Het |
| Cdk17 |
T |
G |
10: 93,068,343 (GRCm39) |
S367A |
probably benign |
Het |
| Cfap206 |
T |
A |
4: 34,719,656 (GRCm39) |
M253L |
probably benign |
Het |
| Chd3 |
T |
G |
11: 69,253,132 (GRCm39) |
K228Q |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,123,846 (GRCm39) |
I1503N |
possibly damaging |
Het |
| Csn1s1 |
A |
G |
5: 87,822,087 (GRCm39) |
N119S |
possibly damaging |
Het |
| Czib |
C |
A |
4: 107,752,087 (GRCm39) |
D155E |
not run |
Het |
| Degs1 |
A |
G |
1: 182,106,690 (GRCm39) |
S226P |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,221,638 (GRCm39) |
W976R |
probably damaging |
Het |
| Fbxl4 |
C |
T |
4: 22,386,218 (GRCm39) |
P275L |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,915,944 (GRCm38) |
|
probably null |
Het |
| Gnptab |
T |
A |
10: 88,269,932 (GRCm39) |
Y878* |
probably null |
Het |
| Gpr89 |
A |
T |
3: 96,778,714 (GRCm39) |
M453K |
probably benign |
Het |
| Igsf5 |
A |
T |
16: 96,174,048 (GRCm39) |
Q26L |
possibly damaging |
Het |
| Inpp5e |
T |
A |
2: 26,297,995 (GRCm39) |
D202V |
possibly damaging |
Het |
| Itga3 |
C |
T |
11: 94,943,305 (GRCm39) |
V931M |
possibly damaging |
Het |
| Kcnab3 |
T |
C |
11: 69,222,184 (GRCm39) |
|
probably null |
Het |
| Klk4 |
T |
C |
7: 43,531,122 (GRCm39) |
I17T |
possibly damaging |
Het |
| Lrrc73 |
T |
C |
17: 46,567,169 (GRCm39) |
L206P |
probably damaging |
Het |
| Manba |
A |
T |
3: 135,248,149 (GRCm39) |
N346I |
probably damaging |
Het |
| Map4k4 |
T |
C |
1: 40,013,132 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,877,210 (GRCm39) |
T312A |
probably benign |
Het |
| Masp2 |
A |
G |
4: 148,694,572 (GRCm39) |
|
probably null |
Het |
| Mast1 |
T |
C |
8: 85,661,933 (GRCm39) |
D63G |
possibly damaging |
Het |
| Mtf2 |
T |
A |
5: 108,241,235 (GRCm39) |
S254T |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,619,585 (GRCm39) |
T1379S |
unknown |
Het |
| Myo5a |
A |
G |
9: 75,087,435 (GRCm39) |
E1097G |
probably benign |
Het |
| Nat1 |
T |
C |
8: 67,944,329 (GRCm39) |
V238A |
possibly damaging |
Het |
| Nhlrc2 |
A |
G |
19: 56,580,931 (GRCm39) |
D493G |
probably damaging |
Het |
| Or10ak9 |
C |
T |
4: 118,726,922 (GRCm39) |
P315S |
probably benign |
Het |
| Or1j21 |
T |
C |
2: 36,683,709 (GRCm39) |
S154P |
probably benign |
Het |
| Or5ae2 |
A |
G |
7: 84,506,251 (GRCm39) |
I227V |
possibly damaging |
Het |
| Or5b108 |
A |
T |
19: 13,168,270 (GRCm39) |
M80L |
probably benign |
Het |
| Or5d20-ps1 |
T |
C |
2: 87,932,176 (GRCm39) |
K52E |
probably damaging |
Het |
| Or8g51 |
A |
G |
9: 38,609,515 (GRCm39) |
I49T |
possibly damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,429,349 (GRCm39) |
C1543Y |
probably damaging |
Het |
| Pde4d |
A |
G |
13: 109,169,222 (GRCm39) |
D88G |
probably benign |
Het |
| Prmt6 |
A |
G |
3: 110,157,680 (GRCm39) |
M203T |
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,986,510 (GRCm39) |
V995D |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,084,862 (GRCm39) |
E199G |
possibly damaging |
Het |
| Pth1r |
A |
G |
9: 110,552,815 (GRCm39) |
I439T |
possibly damaging |
Het |
| Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
| Slc44a1 |
T |
C |
4: 53,528,711 (GRCm39) |
S154P |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,487,855 (GRCm39) |
Y192* |
probably null |
Het |
| Spag16 |
A |
G |
1: 70,764,025 (GRCm39) |
H615R |
possibly damaging |
Het |
| Spata31h1 |
G |
A |
10: 82,122,063 (GRCm39) |
T3649I |
probably damaging |
Het |
| Tas2r114 |
G |
A |
6: 131,666,728 (GRCm39) |
A100V |
possibly damaging |
Het |
| U2af1l4 |
T |
C |
7: 30,264,544 (GRCm39) |
S103P |
probably benign |
Het |
| Usp10 |
T |
C |
8: 120,668,847 (GRCm39) |
S383P |
probably damaging |
Het |
| Vmn2r113 |
A |
G |
17: 23,167,137 (GRCm39) |
R505G |
probably benign |
Het |
| Vmn2r75 |
A |
C |
7: 85,814,592 (GRCm39) |
D300E |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,708,232 (GRCm39) |
|
probably null |
Het |
| Zfp318 |
T |
C |
17: 46,716,865 (GRCm39) |
V999A |
probably damaging |
Het |
| Zfp324 |
A |
T |
7: 12,702,810 (GRCm39) |
H58L |
probably damaging |
Het |
| Zfp707 |
A |
G |
15: 75,846,967 (GRCm39) |
E339G |
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 |
|
|
IGL02174:Pld5
|
APN |
1 |
176,102,310 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATAAATCAGGCTCTGGTGTGAAG -3'
(R):5'- TATTCCATGGGAAATGCCGAG -3'
Sequencing Primer
(F):5'- AGGGTGTCCTTTCCCCTCTAG -3'
(R):5'- AGGAGCTGCAGCCCTCTTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation