Incidental Mutation 'R5300:Sppl2c'
ID |
405610 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sppl2c
|
Ensembl Gene |
ENSMUSG00000049506 |
Gene Name |
signal peptide peptidase 2C |
Synonyms |
4933407P14Rik |
MMRRC Submission |
042883-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R5300 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
104077153-104081989 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104077901 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 234
(N234Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059448]
[ENSMUST00000107000]
|
AlphaFold |
A2A6C4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059448
AA Change: N234Y
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000091453 Gene: ENSMUSG00000049506 AA Change: N234Y
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 |
possibly damaging
Transcript: ENSMUST00000107000
AA Change: N234Y
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102613 Gene: ENSMUSG00000049506 AA Change: N234Y
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank1 |
A |
G |
8: 23,622,517 (GRCm39) |
K1644E |
probably benign |
Het |
C7 |
C |
A |
15: 5,061,432 (GRCm39) |
G306W |
probably damaging |
Het |
Ccdc185 |
A |
G |
1: 182,575,645 (GRCm39) |
V348A |
probably benign |
Het |
Cfap58 |
A |
T |
19: 47,929,595 (GRCm39) |
I19F |
probably benign |
Het |
Dnaaf2 |
C |
G |
12: 69,245,002 (GRCm39) |
V20L |
probably damaging |
Het |
Dpy19l3 |
A |
G |
7: 35,426,735 (GRCm39) |
Y58H |
probably damaging |
Het |
Dsc1 |
T |
C |
18: 20,227,917 (GRCm39) |
S480G |
probably damaging |
Het |
Eno4 |
G |
A |
19: 58,943,982 (GRCm39) |
|
probably null |
Het |
Gm136 |
T |
G |
4: 34,750,930 (GRCm39) |
K114N |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lrrc37a |
T |
A |
11: 103,347,784 (GRCm39) |
L2970F |
unknown |
Het |
Ly86 |
C |
T |
13: 37,602,588 (GRCm39) |
T160I |
probably benign |
Het |
Mfsd4b1 |
A |
C |
10: 39,879,027 (GRCm39) |
F290C |
probably benign |
Het |
Minar1 |
A |
T |
9: 89,485,252 (GRCm39) |
S48R |
probably damaging |
Het |
Nbeal1 |
T |
G |
1: 60,274,718 (GRCm39) |
Y376* |
probably null |
Het |
Nipbl |
A |
T |
15: 8,380,981 (GRCm39) |
S604T |
probably benign |
Het |
Pml |
A |
C |
9: 58,154,302 (GRCm39) |
N190K |
probably damaging |
Het |
Rin3 |
C |
A |
12: 102,335,929 (GRCm39) |
F533L |
probably benign |
Het |
Scamp1 |
A |
G |
13: 94,340,670 (GRCm39) |
V233A |
probably damaging |
Het |
Tfap2b |
A |
G |
1: 19,298,677 (GRCm39) |
K278R |
probably damaging |
Het |
Tg |
A |
G |
15: 66,550,704 (GRCm39) |
Y278C |
probably damaging |
Het |
Trdn |
A |
G |
10: 33,071,978 (GRCm39) |
E215G |
probably damaging |
Het |
Tssk6 |
T |
C |
8: 70,355,285 (GRCm39) |
S110P |
probably benign |
Het |
Vmn2r15 |
A |
T |
5: 109,441,974 (GRCm39) |
L153Q |
probably damaging |
Het |
Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
Zfp667 |
A |
G |
7: 6,307,635 (GRCm39) |
H101R |
probably benign |
Het |
Zfp772 |
A |
T |
7: 7,207,157 (GRCm39) |
M178K |
probably benign |
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 |
R3011: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 |
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'- TGTTGGACATTGTCAGCCACAC -3'
(R):5'- TGGCACCCAGGCTAAAGATC -3'
Sequencing Primer
(F):5'- ATTGTCAGCCACACTTACGG -3'
(R):5'- GGCTAAAGATCCCAATCATGACGTAG -3'
|
Posted On |
2016-07-22 |