Incidental Mutation 'R5709:Spred2'
| ID |
452140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spred2
|
| Ensembl Gene |
ENSMUSG00000045671 |
| Gene Name |
sprouty-related EVH1 domain containing 2 |
| Synonyms |
Spred-2 |
| MMRRC Submission |
043184-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.442)
|
| Stock # |
R5709 (G1)
|
| Quality Score |
177 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
19874442-19974026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19971415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 428
(C428R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093298]
[ENSMUST00000093299]
[ENSMUST00000123036]
|
| AlphaFold |
Q924S7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093298
AA Change: C401R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090987
Gene: ENSMUSG00000045671
AA Change: C401R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WH1
|
6 |
119 |
4.7e-13 |
PFAM |
|
Pfam:Sprouty
|
298 |
403 |
3.8e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093299
AA Change: C428R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090988
Gene: ENSMUSG00000045671
AA Change: C428R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WH1
|
91 |
146 |
4.1e-10 |
PFAM |
|
Pfam:Sprouty
|
325 |
430 |
8.6e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123036
|
| SMART Domains |
Protein: ENSMUSP00000115103
Gene: ENSMUSG00000045671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WH1
|
120 |
175 |
1.5e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice are fertile and display increased hematopoietic cell formation in culture. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armt1 |
T |
G |
10: 4,384,903 (GRCm39) |
H39Q |
probably damaging |
Het |
| Car14 |
A |
T |
3: 95,806,300 (GRCm39) |
L284Q |
possibly damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,389,118 (GRCm39) |
S437P |
probably damaging |
Het |
| Dpp9 |
C |
T |
17: 56,496,393 (GRCm39) |
V772I |
probably benign |
Het |
| Gm973 |
A |
T |
1: 59,591,714 (GRCm39) |
K366I |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Iglc2 |
T |
C |
16: 19,017,384 (GRCm39) |
T74A |
probably benign |
Het |
| Inhbb |
T |
A |
1: 119,345,260 (GRCm39) |
Y343F |
probably damaging |
Het |
| Krt13 |
C |
T |
11: 100,008,469 (GRCm39) |
G423R |
unknown |
Het |
| Lama3 |
T |
G |
18: 12,672,856 (GRCm39) |
M2483R |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,766,206 (GRCm39) |
E279G |
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,715,015 (GRCm39) |
E205G |
probably damaging |
Het |
| Mkks |
G |
A |
2: 136,722,656 (GRCm39) |
T167I |
probably benign |
Het |
| Mmp24 |
T |
A |
2: 155,634,462 (GRCm39) |
Y61N |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,298,960 (GRCm39) |
T665A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,446,574 (GRCm39) |
W773* |
probably null |
Het |
| Or10d5j |
A |
T |
9: 39,867,859 (GRCm39) |
V136E |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,475,711 (GRCm39) |
R34* |
probably null |
Het |
| Rcn1 |
T |
C |
2: 105,225,128 (GRCm39) |
Y109C |
probably damaging |
Het |
| Rint1 |
T |
G |
5: 24,020,831 (GRCm39) |
V618G |
probably damaging |
Het |
| Rtkn2 |
T |
A |
10: 67,837,800 (GRCm39) |
N117K |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,922,171 (GRCm39) |
M1V |
probably null |
Het |
| Shb |
T |
C |
4: 45,458,327 (GRCm39) |
E279G |
probably damaging |
Het |
| Smarcad1 |
A |
G |
6: 65,051,746 (GRCm39) |
D293G |
probably benign |
Het |
| Sohlh2 |
T |
C |
3: 55,099,723 (GRCm39) |
L165P |
probably benign |
Het |
| Stra8 |
A |
T |
6: 34,904,697 (GRCm39) |
D13V |
possibly damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,175,478 (GRCm39) |
V976A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,731 (GRCm39) |
S2297P |
unknown |
Het |
| Ttn |
A |
G |
2: 76,725,002 (GRCm39) |
|
probably null |
Het |
| Usp1 |
A |
G |
4: 98,819,360 (GRCm39) |
D274G |
probably damaging |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,604 (GRCm39) |
K36R |
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,023,305 (GRCm39) |
I306N |
probably benign |
Het |
| Zmpste24 |
T |
C |
4: 120,923,075 (GRCm39) |
D380G |
probably benign |
Het |
|
| Other mutations in Spred2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0512:Spred2
|
UTSW |
11 |
19,958,485 (GRCm39) |
splice site |
probably benign |
|
|
R0944:Spred2
|
UTSW |
11 |
19,951,104 (GRCm39) |
splice site |
probably benign |
|
|
R1467:Spred2
|
UTSW |
11 |
19,968,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1467:Spred2
|
UTSW |
11 |
19,968,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2156:Spred2
|
UTSW |
11 |
19,971,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2915:Spred2
|
UTSW |
11 |
19,948,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3433:Spred2
|
UTSW |
11 |
19,948,277 (GRCm39) |
nonsense |
probably null |
|
|
R4839:Spred2
|
UTSW |
11 |
19,948,233 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5100:Spred2
|
UTSW |
11 |
19,971,291 (GRCm39) |
nonsense |
probably null |
|
|
R5353:Spred2
|
UTSW |
11 |
19,968,155 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5529:Spred2
|
UTSW |
11 |
19,971,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6978:Spred2
|
UTSW |
11 |
19,948,254 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7345:Spred2
|
UTSW |
11 |
19,874,958 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8073:Spred2
|
UTSW |
11 |
19,958,422 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8847:Spred2
|
UTSW |
11 |
19,951,064 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8888:Spred2
|
UTSW |
11 |
19,951,019 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8895:Spred2
|
UTSW |
11 |
19,951,019 (GRCm39) |
missense |
probably benign |
0.11 |
|
X0025:Spred2
|
UTSW |
11 |
19,948,234 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGAACTTGCATTCGCCG -3'
(R):5'- AATGATGTCACCAAGGGACCAC -3'
Sequencing Primer
(F):5'- AGCATGCTGTACCACTGTATG -3'
(R):5'- CAAGGGACCACAGAGCCTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation