Incidental Mutation 'R3011:Sppl2c'
| ID |
257514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sppl2c
|
| Ensembl Gene |
ENSMUSG00000049506 |
| Gene Name |
signal peptide peptidase 2C |
| Synonyms |
4933407P14Rik |
| MMRRC Submission |
040533-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R3011 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
104077153-104081989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104078141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 314
(P314S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059448]
[ENSMUST00000107000]
|
| AlphaFold |
A2A6C4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059448
AA Change: P314S
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000091453
Gene: ENSMUSG00000049506
AA Change: P314S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:PA
|
62 |
169 |
1.8e-8 |
PFAM |
|
transmembrane domain
|
191 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
237 |
N/A |
INTRINSIC |
|
PSN
|
256 |
528 |
1.08e-95 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107000
AA Change: P314S
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102613
Gene: ENSMUSG00000049506
AA Change: P314S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:PA
|
62 |
169 |
2.3e-8 |
PFAM |
|
transmembrane domain
|
191 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
237 |
N/A |
INTRINSIC |
|
PSN
|
256 |
528 |
1.08e-95 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
A |
C |
16: 38,422,269 (GRCm39) |
C1266G |
possibly damaging |
Het |
| Brme1 |
C |
A |
8: 84,893,539 (GRCm39) |
Y235* |
probably null |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,730,581 (GRCm39) |
T905M |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,428,975 (GRCm39) |
N469S |
probably benign |
Het |
| Commd3 |
T |
A |
2: 18,679,499 (GRCm39) |
V128D |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,088,695 (GRCm39) |
T253A |
probably damaging |
Het |
| Dnajc5b |
A |
T |
3: 19,600,966 (GRCm39) |
Y21F |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,373,720 (GRCm39) |
L660Q |
probably damaging |
Het |
| Gm14403 |
A |
G |
2: 177,200,786 (GRCm39) |
D244G |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,534,047 (GRCm39) |
D312G |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,579,217 (GRCm39) |
S543G |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,604,262 (GRCm39) |
I50N |
probably damaging |
Het |
| Lct |
C |
T |
1: 128,229,109 (GRCm39) |
V795I |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,503,929 (GRCm39) |
T504S |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,453,771 (GRCm39) |
D887G |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,469,846 (GRCm39) |
D66V |
possibly damaging |
Het |
| Nqo1 |
C |
T |
8: 108,115,743 (GRCm39) |
R178H |
probably benign |
Het |
| Or13e8 |
G |
T |
4: 43,696,624 (GRCm39) |
A183E |
probably damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,350 (GRCm39) |
V31A |
probably benign |
Het |
| Otof |
G |
A |
5: 30,540,184 (GRCm39) |
A999V |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,129,946 (GRCm39) |
D506G |
probably benign |
Het |
| Pth2r |
C |
T |
1: 65,376,147 (GRCm39) |
H97Y |
probably benign |
Het |
| Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
| Srgap2 |
T |
A |
1: 131,238,329 (GRCm39) |
Q520L |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tlr4 |
A |
T |
4: 66,757,491 (GRCm39) |
K95* |
probably null |
Het |
| Tmem59l |
A |
T |
8: 70,938,887 (GRCm39) |
C96S |
probably damaging |
Het |
| Tmtc3 |
G |
T |
10: 100,283,444 (GRCm39) |
P704T |
possibly damaging |
Het |
| Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
| Vps72 |
A |
G |
3: 95,026,585 (GRCm39) |
K177E |
probably damaging |
Het |
|
| Other mutations in Sppl2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00814:Sppl2c
|
APN |
11 |
104,077,805 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02326:Sppl2c
|
APN |
11 |
104,078,099 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02479:Sppl2c
|
APN |
11 |
104,077,763 (GRCm39) |
missense |
probably benign |
|
|
H8786:Sppl2c
|
UTSW |
11 |
104,077,691 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0083:Sppl2c
|
UTSW |
11 |
104,077,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1625:Sppl2c
|
UTSW |
11 |
104,077,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1913:Sppl2c
|
UTSW |
11 |
104,078,715 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2037:Sppl2c
|
UTSW |
11 |
104,077,307 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2869:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2869:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2871:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2871:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2873:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3009:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3010:Sppl2c
|
UTSW |
11 |
104,078,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4698:Sppl2c
|
UTSW |
11 |
104,079,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4718:Sppl2c
|
UTSW |
11 |
104,079,141 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4841:Sppl2c
|
UTSW |
11 |
104,078,478 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4842:Sppl2c
|
UTSW |
11 |
104,078,478 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5248:Sppl2c
|
UTSW |
11 |
104,077,407 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5288:Sppl2c
|
UTSW |
11 |
104,078,127 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5300:Sppl2c
|
UTSW |
11 |
104,077,901 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5384:Sppl2c
|
UTSW |
11 |
104,078,127 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5386:Sppl2c
|
UTSW |
11 |
104,078,127 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5427:Sppl2c
|
UTSW |
11 |
104,078,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5452:Sppl2c
|
UTSW |
11 |
104,078,126 (GRCm39) |
missense |
probably benign |
|
|
R5796:Sppl2c
|
UTSW |
11 |
104,078,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6112:Sppl2c
|
UTSW |
11 |
104,077,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6452:Sppl2c
|
UTSW |
11 |
104,079,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6476:Sppl2c
|
UTSW |
11 |
104,077,595 (GRCm39) |
missense |
probably benign |
|
|
R7368:Sppl2c
|
UTSW |
11 |
104,078,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7871:Sppl2c
|
UTSW |
11 |
104,079,342 (GRCm39) |
splice site |
probably null |
|
|
R7896:Sppl2c
|
UTSW |
11 |
104,077,956 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7991:Sppl2c
|
UTSW |
11 |
104,078,640 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7991:Sppl2c
|
UTSW |
11 |
104,078,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8035:Sppl2c
|
UTSW |
11 |
104,078,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8221:Sppl2c
|
UTSW |
11 |
104,077,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8243:Sppl2c
|
UTSW |
11 |
104,078,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8462:Sppl2c
|
UTSW |
11 |
104,077,532 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8474:Sppl2c
|
UTSW |
11 |
104,078,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9368:Sppl2c
|
UTSW |
11 |
104,078,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9507:Sppl2c
|
UTSW |
11 |
104,078,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9672:Sppl2c
|
UTSW |
11 |
104,077,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTATGGATTTCACACCAGC -3'
(R):5'- CAGCAGGAACAAAGTGCAGTTC -3'
Sequencing Primer
(F):5'- TATGGATTTCACACCAGCCATGAC -3'
(R):5'- CAAAGTGCAGTTCTTGAACGTG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation