Incidental Mutation 'R1644:Pld5'
| ID |
173735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld5
|
| Ensembl Gene |
ENSMUSG00000055214 |
| Gene Name |
phospholipase D family member 5 |
| Synonyms |
B230365F16Rik |
| MMRRC Submission |
039680-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1644 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
175789872-176102878 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 175803192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 296
(T296A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065967]
[ENSMUST00000104983]
[ENSMUST00000111167]
[ENSMUST00000125404]
|
| AlphaFold |
Q3UNN8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065967
AA Change: T358A
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
AA Change: T358A
| 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 benign
Transcript: ENSMUST00000104983
|
| SMART Domains |
Protein: ENSMUSP00000100599
Gene: ENSMUSG00000078184
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
46 |
N/A |
INTRINSIC |
|
RRM
|
74 |
147 |
8.44e-22 |
SMART |
|
low complexity region
|
152 |
174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111167
AA Change: T296A
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214
AA Change: T296A
| 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 |
0.0761 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| Validation Efficiency |
98% (62/63) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,484,814 (GRCm39) |
R8* |
probably null |
Het |
| Acacb |
A |
T |
5: 114,333,346 (GRCm39) |
H490L |
probably damaging |
Het |
| Ace |
C |
A |
11: 105,875,932 (GRCm39) |
H417N |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,099,298 (GRCm39) |
N151D |
possibly damaging |
Het |
| Agap1 |
A |
G |
1: 89,591,452 (GRCm39) |
N114S |
probably damaging |
Het |
| Arap3 |
A |
T |
18: 38,117,298 (GRCm39) |
V926D |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,112,340 (GRCm39) |
I8N |
probably benign |
Het |
| Arhgef17 |
A |
T |
7: 100,578,711 (GRCm39) |
F746I |
probably damaging |
Het |
| Atp6v0a1 |
T |
C |
11: 100,929,612 (GRCm39) |
S471P |
possibly damaging |
Het |
| Bdp1 |
A |
G |
13: 100,197,448 (GRCm39) |
V979A |
probably benign |
Het |
| Ccdc88c |
C |
A |
12: 100,879,733 (GRCm39) |
R1789L |
probably damaging |
Het |
| Cckar |
A |
T |
5: 53,857,215 (GRCm39) |
N327K |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,956,334 (GRCm39) |
T1082A |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,378,672 (GRCm39) |
I719N |
probably damaging |
Het |
| Col27a1 |
C |
G |
4: 63,246,868 (GRCm39) |
|
probably benign |
Het |
| Cspp1 |
C |
T |
1: 10,196,663 (GRCm39) |
T179I |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,024,249 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,132,279 (GRCm39) |
V1141A |
probably benign |
Het |
| Dusp4 |
A |
G |
8: 35,285,633 (GRCm39) |
Y298C |
probably damaging |
Het |
| Efhc1 |
C |
A |
1: 21,037,625 (GRCm39) |
Y267* |
probably null |
Het |
| Eif2s1 |
T |
A |
12: 78,913,295 (GRCm39) |
|
probably null |
Het |
| Epo |
A |
G |
5: 137,481,417 (GRCm39) |
V169A |
possibly damaging |
Het |
| Esr1 |
A |
T |
10: 4,951,380 (GRCm39) |
Y586F |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,178,609 (GRCm39) |
T1484A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,187,007 (GRCm39) |
T1280A |
possibly damaging |
Het |
| Gm5828 |
T |
C |
1: 16,839,485 (GRCm39) |
|
noncoding transcript |
Het |
| Idh3b |
T |
C |
2: 130,123,430 (GRCm39) |
I187V |
possibly damaging |
Het |
| Kif13a |
A |
C |
13: 46,947,398 (GRCm39) |
V862G |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,510,669 (GRCm39) |
D1327G |
probably damaging |
Het |
| Mfsd9 |
T |
A |
1: 40,812,958 (GRCm39) |
R452S |
probably benign |
Het |
| Myh15 |
C |
T |
16: 48,952,566 (GRCm39) |
R879C |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,319,437 (GRCm39) |
R260G |
possibly damaging |
Het |
| Npat |
T |
G |
9: 53,481,472 (GRCm39) |
L1060R |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,385,156 (GRCm39) |
H159L |
probably benign |
Het |
| Or4c126 |
A |
T |
2: 89,824,297 (GRCm39) |
T187S |
possibly damaging |
Het |
| Or4c15 |
A |
T |
2: 88,759,731 (GRCm39) |
D309E |
probably benign |
Het |
| Or52n2b |
A |
C |
7: 104,566,015 (GRCm39) |
F163V |
probably benign |
Het |
| Or6f2 |
T |
C |
7: 139,756,561 (GRCm39) |
V176A |
probably benign |
Het |
| Polq |
C |
T |
16: 36,880,626 (GRCm39) |
A651V |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,520,692 (GRCm39) |
P607S |
probably damaging |
Het |
| Ranbp9 |
G |
A |
13: 43,566,015 (GRCm39) |
R424C |
probably damaging |
Het |
| Rsl1 |
G |
A |
13: 67,325,229 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
A |
G |
1: 36,589,885 (GRCm39) |
S490P |
probably damaging |
Het |
| Setd3 |
A |
T |
12: 108,079,603 (GRCm39) |
L300Q |
possibly damaging |
Het |
| Slc15a3 |
T |
C |
19: 10,834,595 (GRCm39) |
I492T |
possibly damaging |
Het |
| Stag1 |
T |
C |
9: 100,762,953 (GRCm39) |
|
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,880,481 (GRCm39) |
Y294C |
probably damaging |
Het |
| Tm9sf1 |
A |
G |
14: 55,878,757 (GRCm39) |
S212P |
probably benign |
Het |
| Tmcc1 |
A |
G |
6: 116,110,826 (GRCm39) |
S156P |
probably damaging |
Het |
| Vmn1r184 |
A |
C |
7: 25,966,670 (GRCm39) |
M139L |
probably benign |
Het |
| Vmn1r209 |
A |
C |
13: 22,990,652 (GRCm39) |
F13V |
possibly damaging |
Het |
| Xkr5 |
T |
C |
8: 18,984,141 (GRCm39) |
E467G |
probably benign |
Het |
| Zdbf2 |
C |
T |
1: 63,348,131 (GRCm39) |
S2170L |
possibly damaging |
Het |
| Zfp277 |
G |
T |
12: 40,379,609 (GRCm39) |
|
probably null |
Het |
| Zfp62 |
T |
C |
11: 49,106,596 (GRCm39) |
I229T |
probably damaging |
Het |
| Zfp810 |
A |
G |
9: 22,190,324 (GRCm39) |
S195P |
possibly damaging |
Het |
| Zfp94 |
G |
A |
7: 24,010,927 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCGTGAGTGCATCAACAGC -3'
(R):5'- TGGACCCGAGACCTTCTATAAGGC -3'
Sequencing Primer
(F):5'- GCCTTTTTTATTGAATCACACGG -3'
(R):5'- CCTTCTATAAGGCAGTAAGAGGTCC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation