Incidental Mutation 'R8038:Pld5'
ID |
618315 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pld5
|
Ensembl Gene |
ENSMUSG00000055214 |
Gene Name |
phospholipase D family member 5 |
Synonyms |
B230365F16Rik |
MMRRC Submission |
067475-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8038 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
175789872-176102878 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 175872463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 225
(I225V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069326
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065967]
[ENSMUST00000111167]
[ENSMUST00000125404]
|
AlphaFold |
Q3UNN8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065967
AA Change: I225V
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000069326 Gene: ENSMUSG00000055214 AA Change: I225V
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: ENSMUST00000111167
AA Change: I163V
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000106797 Gene: ENSMUSG00000055214 AA Change: I163V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (50/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,106,730 (GRCm39) |
M143K |
probably damaging |
Het |
Accs |
A |
T |
2: 93,673,262 (GRCm39) |
|
probably null |
Het |
Alkbh5 |
T |
C |
11: 60,429,811 (GRCm39) |
V188A |
probably damaging |
Het |
Cacna1h |
C |
T |
17: 25,594,865 (GRCm39) |
V2098I |
probably damaging |
Het |
Chuk |
A |
G |
19: 44,067,416 (GRCm39) |
Y580H |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,786,360 (GRCm39) |
N530S |
unknown |
Het |
Cops2 |
A |
T |
2: 125,674,206 (GRCm39) |
H420Q |
probably benign |
Het |
Ctcfl |
A |
T |
2: 172,943,698 (GRCm39) |
C551S |
probably damaging |
Het |
Depdc5 |
T |
C |
5: 33,116,692 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
A |
C |
9: 20,852,860 (GRCm39) |
V82G |
probably damaging |
Het |
Fam90a1a |
A |
T |
8: 22,453,455 (GRCm39) |
N270I |
possibly damaging |
Het |
Foxn4 |
T |
C |
5: 114,394,658 (GRCm39) |
D423G |
probably damaging |
Het |
Hoxa5 |
A |
G |
6: 52,181,309 (GRCm39) |
S8P |
probably damaging |
Het |
Ighe |
A |
T |
12: 113,233,053 (GRCm39) |
V456D |
|
Het |
Ighv1-52 |
A |
G |
12: 115,109,210 (GRCm39) |
F83S |
probably damaging |
Het |
Itga2 |
A |
T |
13: 114,990,291 (GRCm39) |
N921K |
probably damaging |
Het |
Kdm2b |
T |
C |
5: 123,098,958 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
T |
G |
11: 115,741,929 (GRCm39) |
M657R |
probably benign |
Het |
Lrrcc1 |
T |
A |
3: 14,630,890 (GRCm39) |
I1019K |
possibly damaging |
Het |
Lrriq3 |
A |
T |
3: 154,869,638 (GRCm39) |
D321V |
probably benign |
Het |
Lsm10 |
T |
C |
4: 125,991,890 (GRCm39) |
V82A |
probably damaging |
Het |
Mettl3 |
A |
G |
14: 52,537,421 (GRCm39) |
S154P |
possibly damaging |
Het |
Naip2 |
T |
C |
13: 100,298,570 (GRCm39) |
I489V |
probably benign |
Het |
Nat8f5 |
T |
A |
6: 85,794,667 (GRCm39) |
T98S |
possibly damaging |
Het |
Or10w1 |
G |
A |
19: 13,632,719 (GRCm39) |
V309M |
possibly damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,212 (GRCm39) |
L186Q |
probably damaging |
Het |
Or7e166 |
G |
T |
9: 19,624,976 (GRCm39) |
M284I |
possibly damaging |
Het |
Or8d6 |
T |
A |
9: 39,854,177 (GRCm39) |
V207D |
probably damaging |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Ppfia1 |
C |
A |
7: 144,068,653 (GRCm39) |
A414S |
possibly damaging |
Het |
Ppib |
T |
C |
9: 65,967,615 (GRCm39) |
V23A |
probably benign |
Het |
Rabggta |
A |
T |
14: 55,956,387 (GRCm39) |
S361T |
probably benign |
Het |
Rap1gap2 |
T |
C |
11: 74,283,109 (GRCm39) |
S664G |
probably benign |
Het |
Recql5 |
A |
G |
11: 115,818,178 (GRCm39) |
V285A |
possibly damaging |
Het |
Rtn4rl1 |
G |
C |
11: 75,156,707 (GRCm39) |
E380Q |
possibly damaging |
Het |
Scarb2 |
A |
T |
5: 92,599,307 (GRCm39) |
S338T |
probably damaging |
Het |
Skint4 |
T |
G |
4: 111,977,003 (GRCm39) |
|
probably benign |
Het |
Slc13a5 |
T |
C |
11: 72,144,196 (GRCm39) |
K294R |
probably benign |
Het |
Spib |
A |
G |
7: 44,179,310 (GRCm39) |
F32S |
probably benign |
Het |
Spint2 |
A |
G |
7: 28,959,554 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
A |
T |
2: 178,045,571 (GRCm39) |
D16E |
probably damaging |
Het |
Tab1 |
A |
G |
15: 80,044,471 (GRCm39) |
T500A |
probably benign |
Het |
Tecpr2 |
T |
C |
12: 110,902,854 (GRCm39) |
F860L |
probably benign |
Het |
Tg |
A |
G |
15: 66,560,724 (GRCm39) |
M1029V |
probably benign |
Het |
Tmem126b |
C |
T |
7: 90,118,830 (GRCm39) |
V153I |
probably benign |
Het |
Uba2 |
A |
T |
7: 33,847,022 (GRCm39) |
Y440N |
probably damaging |
Het |
Vwa2 |
A |
G |
19: 56,886,320 (GRCm39) |
E129G |
probably benign |
Het |
Wapl |
A |
G |
14: 34,413,639 (GRCm39) |
D167G |
probably benign |
Het |
Zfp64 |
A |
G |
2: 168,741,932 (GRCm39) |
F332S |
probably damaging |
Het |
Zfp786 |
C |
T |
6: 47,798,188 (GRCm39) |
R250H |
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 |
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 |
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'- AATGTGCCTCAATGGTAGAAAGC -3'
(R):5'- TTGTGCAAGTACCTGGCTCC -3'
Sequencing Primer
(F):5'- GAAAGCATGCTGAACTTAGTCCTTGG -3'
(R):5'- CCTGACTGTTCATGGATG -3'
|
Posted On |
2020-01-23 |