Incidental Mutation 'R0094:Spp2'
| ID |
63990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spp2
|
| Ensembl Gene |
ENSMUSG00000026295 |
| Gene Name |
secreted phosphoprotein 2 |
| Synonyms |
spp24, 0610038O04Rik |
| MMRRC Submission |
038380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R0094 (G1)
|
| Quality Score |
126 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
88334683-88354160 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 88348402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027518]
[ENSMUST00000176708]
[ENSMUST00000189225]
|
| AlphaFold |
Q8K1I3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027518
|
| SMART Domains |
Protein: ENSMUSP00000027518
Gene: ENSMUSG00000026295
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spp-24
|
67 |
203 |
2.5e-72 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176708
|
| SMART Domains |
Protein: ENSMUSP00000135862
Gene: ENSMUSG00000026295
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spp-24
|
1 |
89 |
1.3e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189225
|
| SMART Domains |
Protein: ENSMUSP00000141021
Gene: ENSMUSG00000026295
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spp-24
|
15 |
53 |
1.8e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
| Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
| Ap5z1 |
G |
A |
5: 142,462,567 (GRCm39) |
V626M |
probably benign |
Het |
| Cacna2d3 |
C |
T |
14: 28,892,460 (GRCm39) |
|
probably null |
Het |
| Cfap77 |
A |
T |
2: 28,874,446 (GRCm39) |
V128D |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
| Dcdc2b |
T |
C |
4: 129,504,104 (GRCm39) |
|
probably null |
Het |
| Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
| Dtx1 |
A |
G |
5: 120,820,689 (GRCm39) |
Y455H |
probably damaging |
Het |
| Frmpd1 |
C |
A |
4: 45,284,899 (GRCm39) |
S1240* |
probably null |
Het |
| Gypa |
T |
A |
8: 81,227,560 (GRCm39) |
H69Q |
unknown |
Het |
| Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
| Mroh7 |
C |
T |
4: 106,560,381 (GRCm39) |
G641E |
probably damaging |
Het |
| Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,230,864 (GRCm39) |
N370K |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
| Rfc4 |
G |
T |
16: 22,934,178 (GRCm39) |
Q208K |
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
| Sirpb1c |
G |
T |
3: 15,892,922 (GRCm39) |
T94K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,828,770 (GRCm39) |
N1136K |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,819 (GRCm39) |
H134R |
probably damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,661,722 (GRCm39) |
R698G |
probably benign |
Het |
|
| Other mutations in Spp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02066:Spp2
|
APN |
1 |
88,344,965 (GRCm39) |
missense |
probably benign |
|
|
IGL02530:Spp2
|
APN |
1 |
88,338,868 (GRCm39) |
nonsense |
probably null |
|
|
PIT4260001:Spp2
|
UTSW |
1 |
88,338,927 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1500:Spp2
|
UTSW |
1 |
88,340,015 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4277:Spp2
|
UTSW |
1 |
88,338,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Spp2
|
UTSW |
1 |
88,339,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5866:Spp2
|
UTSW |
1 |
88,340,025 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6707:Spp2
|
UTSW |
1 |
88,345,016 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7141:Spp2
|
UTSW |
1 |
88,335,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Spp2
|
UTSW |
1 |
88,344,975 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9484:Spp2
|
UTSW |
1 |
88,334,695 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGAAATGTGACAGTTCCTGCCC -3'
(R):5'- GGCCACCAGTGTTGAGATGACAAG -3'
Sequencing Primer
(F):5'- agCTGAGAGTGTGACATGG -3'
(R):5'- AAATATTACGGAGCCTCCTGG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation