Incidental Mutation 'R6210:Pced1a'
| ID |
503387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pced1a
|
| Ensembl Gene |
ENSMUSG00000037773 |
| Gene Name |
PC-esterase domain containing 1A |
| Synonyms |
A930025D01Rik, Fam113a |
| MMRRC Submission |
044344-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6210 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130259603-130266692 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130263839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 271
(V271A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028900]
[ENSMUST00000089581]
[ENSMUST00000110277]
[ENSMUST00000128994]
|
| AlphaFold |
Q6P1Z5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028900
|
| SMART Domains |
Protein: ENSMUSP00000028900
Gene: ENSMUSG00000027411
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps16_N
|
4 |
420 |
1e-166 |
PFAM |
|
low complexity region
|
452 |
462 |
N/A |
INTRINSIC |
|
Pfam:Vps16_C
|
517 |
835 |
5.5e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089581
AA Change: V271A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087009
Gene: ENSMUSG00000037773
AA Change: V271A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PC-Esterase
|
18 |
267 |
4e-52 |
PFAM |
|
low complexity region
|
308 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110277
AA Change: V271A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105906
Gene: ENSMUSG00000037773
AA Change: V271A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PC-Esterase
|
21 |
268 |
3.8e-51 |
PFAM |
|
low complexity region
|
308 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125973
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128994
|
| SMART Domains |
Protein: ENSMUSP00000115899
Gene: ENSMUSG00000027411
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps16_N
|
4 |
212 |
3.2e-74 |
PFAM |
|
Pfam:Vps16_N
|
205 |
316 |
1e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131561
|
| Meta Mutation Damage Score |
0.5263 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
95% (52/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
T |
A |
18: 10,706,032 (GRCm39) |
I94F |
probably damaging |
Het |
| Bbox1 |
A |
T |
2: 110,100,422 (GRCm39) |
D258E |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,378,827 (GRCm39) |
|
probably null |
Het |
| Ccdc127 |
T |
C |
13: 74,505,040 (GRCm39) |
V196A |
probably benign |
Het |
| Cd101 |
A |
T |
3: 100,925,959 (GRCm39) |
D253E |
probably damaging |
Het |
| Ceacam15 |
T |
C |
7: 16,407,214 (GRCm39) |
Y101C |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,772,570 (GRCm39) |
L652F |
probably benign |
Het |
| Col5a1 |
G |
T |
2: 27,922,633 (GRCm39) |
V234L |
probably benign |
Het |
| Cxcr6 |
T |
C |
9: 123,639,073 (GRCm39) |
S25P |
possibly damaging |
Het |
| Dctn4 |
C |
T |
18: 60,679,865 (GRCm39) |
Q258* |
probably null |
Het |
| Fmnl2 |
A |
T |
2: 53,020,457 (GRCm39) |
N1067I |
possibly damaging |
Het |
| Frrs1 |
A |
T |
3: 116,672,080 (GRCm39) |
K59N |
probably benign |
Het |
| Gpr157 |
T |
C |
4: 150,186,055 (GRCm39) |
Y206H |
probably damaging |
Het |
| Hephl1 |
A |
G |
9: 15,001,860 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Hinfp |
C |
T |
9: 44,210,169 (GRCm39) |
|
probably null |
Het |
| Igf2r |
A |
T |
17: 12,933,838 (GRCm39) |
N805K |
probably damaging |
Het |
| Ilrun |
A |
T |
17: 27,986,960 (GRCm39) |
D255E |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,717 (GRCm39) |
|
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,664,351 (GRCm39) |
|
probably null |
Het |
| Kcnip1 |
G |
A |
11: 33,595,600 (GRCm39) |
T30I |
possibly damaging |
Het |
| Lig4 |
T |
C |
8: 10,021,585 (GRCm39) |
T732A |
probably benign |
Het |
| Lmod3 |
T |
A |
6: 97,224,262 (GRCm39) |
T520S |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,043,145 (GRCm39) |
V1356I |
possibly damaging |
Het |
| Mical3 |
C |
T |
6: 121,017,478 (GRCm39) |
|
probably null |
Het |
| Msi1 |
T |
C |
5: 115,573,535 (GRCm39) |
I8T |
probably damaging |
Het |
| Mug4-ps |
A |
T |
6: 121,927,276 (GRCm39) |
|
noncoding transcript |
Het |
| Myo1f |
T |
A |
17: 33,820,044 (GRCm39) |
I783N |
probably damaging |
Het |
| Nr6a1 |
A |
C |
2: 38,619,509 (GRCm39) |
I462S |
probably damaging |
Het |
| Or2t48 |
C |
T |
11: 58,420,090 (GRCm39) |
A241T |
probably damaging |
Het |
| Or8k23 |
A |
G |
2: 86,186,702 (GRCm39) |
V8A |
probably benign |
Het |
| Pah |
C |
A |
10: 87,419,423 (GRCm39) |
Q449K |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
| Psg21 |
A |
G |
7: 18,386,270 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 162,109,949 (GRCm39) |
Y180C |
probably damaging |
Het |
| Raet1d |
T |
A |
10: 22,246,849 (GRCm39) |
I59N |
probably damaging |
Het |
| Rfx1 |
T |
C |
8: 84,819,647 (GRCm39) |
L653P |
probably damaging |
Het |
| Rnase2a |
A |
G |
14: 51,493,131 (GRCm39) |
V78A |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Serbp1 |
T |
C |
6: 67,249,851 (GRCm39) |
|
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,082,629 (GRCm39) |
H649Q |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,656,731 (GRCm39) |
D719E |
probably benign |
Het |
| Ttc21b |
A |
T |
2: 66,066,698 (GRCm39) |
S318R |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Uhmk1 |
T |
C |
1: 170,039,806 (GRCm39) |
Q187R |
probably damaging |
Het |
| Ung |
C |
T |
5: 114,269,438 (GRCm39) |
A50V |
probably benign |
Het |
| Upk3bl |
C |
T |
5: 136,088,674 (GRCm39) |
Q103* |
probably null |
Het |
| Usp17le |
C |
A |
7: 104,418,350 (GRCm39) |
C264F |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,448,758 (GRCm39) |
N140Y |
probably damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,222,114 (GRCm39) |
C702Y |
probably damaging |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
| Zfp748 |
G |
A |
13: 67,688,923 (GRCm39) |
P779L |
possibly damaging |
Het |
|
| Other mutations in Pced1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Pced1a
|
APN |
2 |
130,261,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02173:Pced1a
|
APN |
2 |
130,264,248 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02547:Pced1a
|
APN |
2 |
130,261,627 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02729:Pced1a
|
APN |
2 |
130,263,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03107:Pced1a
|
APN |
2 |
130,264,755 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0139:Pced1a
|
UTSW |
2 |
130,263,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0550:Pced1a
|
UTSW |
2 |
130,261,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0578:Pced1a
|
UTSW |
2 |
130,261,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3037:Pced1a
|
UTSW |
2 |
130,261,779 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3157:Pced1a
|
UTSW |
2 |
130,261,687 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4578:Pced1a
|
UTSW |
2 |
130,264,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5306:Pced1a
|
UTSW |
2 |
130,261,091 (GRCm39) |
missense |
probably benign |
|
|
R7444:Pced1a
|
UTSW |
2 |
130,263,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7459:Pced1a
|
UTSW |
2 |
130,261,744 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7524:Pced1a
|
UTSW |
2 |
130,263,948 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7744:Pced1a
|
UTSW |
2 |
130,263,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Pced1a
|
UTSW |
2 |
130,264,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7851:Pced1a
|
UTSW |
2 |
130,264,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8300:Pced1a
|
UTSW |
2 |
130,266,157 (GRCm39) |
unclassified |
probably benign |
|
|
R8404:Pced1a
|
UTSW |
2 |
130,265,577 (GRCm39) |
unclassified |
probably benign |
|
|
R8502:Pced1a
|
UTSW |
2 |
130,265,577 (GRCm39) |
unclassified |
probably benign |
|
|
R8990:Pced1a
|
UTSW |
2 |
130,264,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Pced1a
|
UTSW |
2 |
130,261,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Pced1a
|
UTSW |
2 |
130,264,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTAGTTGAACAGCCACGTGC -3'
(R):5'- GGGAACTTCTACAGCGCTACAC -3'
Sequencing Primer
(F):5'- GTGATGTAACCCTTCTCAGGAAACG -3'
(R):5'- TACACTAGCCGGGAAACACTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation