Incidental Mutation 'IGL03035:Homer2'
| ID |
408601 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Homer2
|
| Ensembl Gene |
ENSMUSG00000025813 |
| Gene Name |
homer scaffolding protein 2 |
| Synonyms |
Vesl-2, 9330120H11Rik, Cupidin, CPD |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
IGL03035
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
81250229-81356673 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81274026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 57
(T57S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026922]
[ENSMUST00000098326]
[ENSMUST00000207371]
[ENSMUST00000207983]
[ENSMUST00000208937]
|
| AlphaFold |
Q9QWW1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026922
AA Change: T121S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026922
Gene: ENSMUSG00000025813
AA Change: T121S
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
1 |
107 |
1.86e-37 |
SMART |
|
coiled coil region
|
162 |
320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098326
AA Change: T57S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000095931
Gene: ENSMUSG00000025813
AA Change: T57S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WH1
|
1 |
43 |
4.6e-11 |
PFAM |
|
coiled coil region
|
98 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207289
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207371
AA Change: T57S
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207983
AA Change: T121S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208937
AA Change: T57S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| 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 member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous mutants exhibit an increase in intracellular calcium concentration and in the frequency of intracellular calcium oscillations in pancreatic acinar cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,573,319 (GRCm39) |
L1004P |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,741,518 (GRCm39) |
I385T |
possibly damaging |
Het |
| Alpk3 |
T |
C |
7: 80,728,352 (GRCm39) |
V494A |
probably benign |
Het |
| Camta2 |
C |
A |
11: 70,562,335 (GRCm39) |
E1021* |
probably null |
Het |
| Ccdc6 |
T |
A |
10: 70,018,006 (GRCm39) |
S334T |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,679,601 (GRCm39) |
V93A |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,711,833 (GRCm39) |
|
probably null |
Het |
| Crip2 |
A |
C |
12: 113,107,745 (GRCm39) |
T103P |
probably benign |
Het |
| Cyp4f14 |
T |
A |
17: 33,133,608 (GRCm39) |
T83S |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,864,587 (GRCm39) |
V127D |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,563,277 (GRCm39) |
E609G |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,621,170 (GRCm39) |
I513F |
possibly damaging |
Het |
| Ell2 |
T |
A |
13: 75,911,767 (GRCm39) |
L351* |
probably null |
Het |
| Emcn |
G |
T |
3: 137,078,612 (GRCm39) |
|
probably null |
Het |
| Fdft1 |
A |
T |
14: 63,400,838 (GRCm39) |
C98* |
probably null |
Het |
| Fer1l4 |
A |
G |
2: 155,864,526 (GRCm39) |
S1663P |
possibly damaging |
Het |
| Flt4 |
C |
A |
11: 49,536,724 (GRCm39) |
Y1231* |
probably null |
Het |
| Gatb |
A |
G |
3: 85,509,254 (GRCm39) |
K139E |
probably damaging |
Het |
| Gtf2a1 |
C |
A |
12: 91,539,411 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
A |
C |
5: 31,323,358 (GRCm39) |
V574G |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,428,100 (GRCm39) |
|
probably benign |
Het |
| Ice2 |
C |
A |
9: 69,332,970 (GRCm39) |
F825L |
probably benign |
Het |
| Lepr |
C |
A |
4: 101,622,177 (GRCm39) |
L370I |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,515,630 (GRCm39) |
Q1724* |
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,353,258 (GRCm39) |
D222G |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,314,168 (GRCm39) |
V159A |
probably benign |
Het |
| Prl3b1 |
A |
G |
13: 27,433,516 (GRCm39) |
|
probably benign |
Het |
| Ptbp3 |
A |
T |
4: 59,477,218 (GRCm39) |
M393K |
probably benign |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 79,001,731 (GRCm39) |
H282L |
probably damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,865 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
G |
A |
11: 119,336,452 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
A |
10: 51,952,080 (GRCm39) |
|
probably benign |
Het |
| Slx4ip |
A |
G |
2: 136,909,623 (GRCm39) |
D206G |
possibly damaging |
Het |
| Sprr1a |
T |
A |
3: 92,391,884 (GRCm39) |
D39V |
probably benign |
Het |
| Stab1 |
A |
G |
14: 30,869,726 (GRCm39) |
V1442A |
probably benign |
Het |
| Tbx3 |
C |
A |
5: 119,821,161 (GRCm39) |
|
probably benign |
Het |
| Ubl3 |
A |
G |
5: 148,442,947 (GRCm39) |
*118Q |
probably null |
Het |
| Vmn2r55 |
G |
A |
7: 12,404,743 (GRCm39) |
S220L |
probably benign |
Het |
| Vps36 |
A |
G |
8: 22,708,431 (GRCm39) |
K362E |
probably benign |
Het |
| Zfp268 |
C |
A |
4: 145,348,802 (GRCm39) |
Q80K |
possibly damaging |
Het |
|
| Other mutations in Homer2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01564:Homer2
|
APN |
7 |
81,268,320 (GRCm39) |
splice site |
probably null |
|
|
IGL02197:Homer2
|
APN |
7 |
81,260,147 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02865:Homer2
|
APN |
7 |
81,260,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02948:Homer2
|
APN |
7 |
81,299,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Homer2
|
UTSW |
7 |
81,274,026 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0480:Homer2
|
UTSW |
7 |
81,268,351 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0544:Homer2
|
UTSW |
7 |
81,299,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Homer2
|
UTSW |
7 |
81,286,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1873:Homer2
|
UTSW |
7 |
81,286,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Homer2
|
UTSW |
7 |
81,268,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2148:Homer2
|
UTSW |
7 |
81,274,043 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4096:Homer2
|
UTSW |
7 |
81,261,052 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4888:Homer2
|
UTSW |
7 |
81,299,311 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5121:Homer2
|
UTSW |
7 |
81,299,311 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6033:Homer2
|
UTSW |
7 |
81,268,427 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6033:Homer2
|
UTSW |
7 |
81,268,427 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6489:Homer2
|
UTSW |
7 |
81,274,026 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7652:Homer2
|
UTSW |
7 |
81,299,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8306:Homer2
|
UTSW |
7 |
81,274,014 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9334:Homer2
|
UTSW |
7 |
81,261,078 (GRCm39) |
nonsense |
probably null |
|
|
R9586:Homer2
|
UTSW |
7 |
81,260,113 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2016-08-02 |
Incidental Mutation