Incidental Mutation 'IGL03207:Fsd2'
ID |
413170 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fsd2
|
Ensembl Gene |
ENSMUSG00000038663 |
Gene Name |
fibronectin type III and SPRY domain containing 2 |
Synonyms |
9830160G03Rik, Spryd1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03207
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
81184102-81216729 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81208918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 187
(M187V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047775
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042318]
|
AlphaFold |
Q8BZ52 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042318
AA Change: M187V
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000047775 Gene: ENSMUSG00000038663 AA Change: M187V
Domain | Start | End | E-Value | Type |
low complexity region
|
102 |
121 |
N/A |
INTRINSIC |
coiled coil region
|
204 |
231 |
N/A |
INTRINSIC |
FN3
|
315 |
400 |
7.34e-9 |
SMART |
FN3
|
412 |
494 |
2e-1 |
SMART |
Pfam:PRY
|
509 |
558 |
8.6e-9 |
PFAM |
Pfam:SPRY
|
564 |
683 |
2.8e-12 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
C |
T |
13: 81,255,017 (GRCm39) |
|
probably null |
Het |
Agt |
A |
G |
8: 125,286,107 (GRCm39) |
F325S |
probably damaging |
Het |
Arnt2 |
T |
C |
7: 83,993,042 (GRCm39) |
E166G |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 37,004,145 (GRCm39) |
I1619T |
possibly damaging |
Het |
Cacna1h |
T |
C |
17: 25,610,307 (GRCm39) |
D733G |
probably damaging |
Het |
Capn2 |
T |
G |
1: 182,316,578 (GRCm39) |
T294P |
possibly damaging |
Het |
Cd74 |
A |
G |
18: 60,944,996 (GRCm39) |
|
probably benign |
Het |
Eno4 |
T |
C |
19: 58,941,637 (GRCm39) |
L185P |
probably benign |
Het |
Exoc5 |
G |
A |
14: 49,270,832 (GRCm39) |
P398S |
probably benign |
Het |
Lrfn5 |
C |
T |
12: 61,890,112 (GRCm39) |
T467M |
probably damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,885,385 (GRCm39) |
I94T |
possibly damaging |
Het |
Nuak1 |
A |
C |
10: 84,275,993 (GRCm39) |
F77V |
possibly damaging |
Het |
Nudt9 |
T |
C |
5: 104,206,092 (GRCm39) |
|
probably benign |
Het |
Or5ar1 |
A |
G |
2: 85,671,317 (GRCm39) |
W273R |
probably benign |
Het |
Ppp3cc |
T |
A |
14: 70,485,031 (GRCm39) |
I208F |
probably damaging |
Het |
Prrc1 |
G |
A |
18: 57,522,389 (GRCm39) |
R407Q |
probably benign |
Het |
Ror1 |
G |
A |
4: 100,265,142 (GRCm39) |
|
probably null |
Het |
Tmem161b |
T |
A |
13: 84,442,714 (GRCm39) |
|
probably benign |
Het |
Wdr35 |
C |
A |
12: 9,039,936 (GRCm39) |
A347E |
probably damaging |
Het |
|
Other mutations in Fsd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01746:Fsd2
|
APN |
7 |
81,202,755 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02012:Fsd2
|
APN |
7 |
81,199,662 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02061:Fsd2
|
APN |
7 |
81,190,172 (GRCm39) |
nonsense |
probably null |
|
IGL02971:Fsd2
|
APN |
7 |
81,198,671 (GRCm39) |
nonsense |
probably null |
|
IGL03344:Fsd2
|
APN |
7 |
81,209,657 (GRCm39) |
missense |
probably benign |
0.00 |
R0142:Fsd2
|
UTSW |
7 |
81,209,683 (GRCm39) |
missense |
probably damaging |
0.98 |
R0540:Fsd2
|
UTSW |
7 |
81,194,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:Fsd2
|
UTSW |
7 |
81,194,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R0846:Fsd2
|
UTSW |
7 |
81,190,145 (GRCm39) |
missense |
probably benign |
0.00 |
R0863:Fsd2
|
UTSW |
7 |
81,191,913 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1172:Fsd2
|
UTSW |
7 |
81,209,518 (GRCm39) |
missense |
probably benign |
|
R1173:Fsd2
|
UTSW |
7 |
81,209,518 (GRCm39) |
missense |
probably benign |
|
R1175:Fsd2
|
UTSW |
7 |
81,209,518 (GRCm39) |
missense |
probably benign |
|
R1438:Fsd2
|
UTSW |
7 |
81,198,621 (GRCm39) |
missense |
probably benign |
0.13 |
R1456:Fsd2
|
UTSW |
7 |
81,209,339 (GRCm39) |
nonsense |
probably null |
|
R1717:Fsd2
|
UTSW |
7 |
81,184,857 (GRCm39) |
missense |
probably benign |
0.23 |
R1987:Fsd2
|
UTSW |
7 |
81,209,407 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2698:Fsd2
|
UTSW |
7 |
81,195,608 (GRCm39) |
missense |
probably damaging |
0.99 |
R4108:Fsd2
|
UTSW |
7 |
81,194,715 (GRCm39) |
missense |
probably benign |
0.01 |
R4165:Fsd2
|
UTSW |
7 |
81,195,608 (GRCm39) |
missense |
probably damaging |
0.99 |
R4335:Fsd2
|
UTSW |
7 |
81,191,813 (GRCm39) |
missense |
probably damaging |
0.99 |
R4570:Fsd2
|
UTSW |
7 |
81,209,518 (GRCm39) |
missense |
probably benign |
|
R4707:Fsd2
|
UTSW |
7 |
81,209,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R4741:Fsd2
|
UTSW |
7 |
81,201,643 (GRCm39) |
critical splice donor site |
probably null |
|
R4863:Fsd2
|
UTSW |
7 |
81,202,712 (GRCm39) |
missense |
probably null |
0.91 |
R5281:Fsd2
|
UTSW |
7 |
81,202,733 (GRCm39) |
missense |
probably benign |
0.15 |
R5898:Fsd2
|
UTSW |
7 |
81,186,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R6812:Fsd2
|
UTSW |
7 |
81,184,837 (GRCm39) |
missense |
probably benign |
0.00 |
R7367:Fsd2
|
UTSW |
7 |
81,184,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R7976:Fsd2
|
UTSW |
7 |
81,209,629 (GRCm39) |
missense |
probably benign |
0.00 |
R8717:Fsd2
|
UTSW |
7 |
81,190,090 (GRCm39) |
missense |
probably benign |
0.30 |
R8928:Fsd2
|
UTSW |
7 |
81,209,354 (GRCm39) |
missense |
probably benign |
|
R8987:Fsd2
|
UTSW |
7 |
81,209,766 (GRCm39) |
missense |
probably benign |
0.39 |
R9678:Fsd2
|
UTSW |
7 |
81,209,449 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Fsd2
|
UTSW |
7 |
81,202,940 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Fsd2
|
UTSW |
7 |
81,209,500 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2016-08-02 |