Incidental Mutation 'R2436:Homer3'
| ID |
249586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Homer3
|
| Ensembl Gene |
ENSMUSG00000003573 |
| Gene Name |
homer scaffolding protein 3 |
| Synonyms |
|
| MMRRC Submission |
040397-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R2436 (G1)
|
| Quality Score |
98 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70735529-70747011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70745706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 324
(E324K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003669]
[ENSMUST00000008004]
[ENSMUST00000110124]
[ENSMUST00000140212]
|
| AlphaFold |
Q99JP6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003669
AA Change: E324K
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003669
Gene: ENSMUSG00000003573
AA Change: E324K
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
4 |
110 |
4.92e-37 |
SMART |
|
low complexity region
|
198 |
210 |
N/A |
INTRINSIC |
|
PDB:3CVF|D
|
285 |
342 |
2e-10 |
PDB |
|
low complexity region
|
343 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008004
|
| SMART Domains |
Protein: ENSMUSP00000008004
Gene: ENSMUSG00000057788
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
21 |
222 |
1.85e-57 |
SMART |
|
HELICc
|
262 |
343 |
2.41e-29 |
SMART |
|
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
470 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110124
AA Change: E324K
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105751
Gene: ENSMUSG00000003573
AA Change: E324K
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
4 |
110 |
4.92e-37 |
SMART |
|
low complexity region
|
198 |
210 |
N/A |
INTRINSIC |
|
PDB:3CVF|D
|
285 |
342 |
2e-10 |
PDB |
|
low complexity region
|
343 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127094
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135368
AA Change: E57K
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138688
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140212
AA Change: E321K
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117033
Gene: ENSMUSG00000003573
AA Change: E321K
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
4 |
110 |
4.92e-37 |
SMART |
|
low complexity region
|
198 |
210 |
N/A |
INTRINSIC |
|
PDB:3CVF|D
|
282 |
339 |
2e-10 |
PDB |
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143528
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| 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 postsynaptic density scaffolding proteins that share a similar domain structure consisting of an N-terminal Enabled/vasodilator-stimulated phosphoprotein homology 1 domain which mediates protein-protein interactions, and a carboxy-terminal coiled-coil domain and two leucine zipper motifs that are involved in self-oligomerization. The encoded protein binds numerous other proteins including group I metabotropic glutamate receptors, inositol 1,4,5-trisphosphate receptors and amyloid precursor proteins and has been implicated in diverse biological functions such as neuronal signaling, T-cell activation and trafficking of amyloid beta peptides. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutants exhibit normal sensitivity to cocaine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,582,308 (GRCm39) |
S277P |
possibly damaging |
Het |
| Arl6ip4 |
T |
C |
5: 124,254,662 (GRCm39) |
S52P |
probably benign |
Het |
| Barx2 |
T |
C |
9: 31,824,383 (GRCm39) |
H2R |
probably damaging |
Het |
| Calhm3 |
T |
C |
19: 47,140,404 (GRCm39) |
T230A |
probably damaging |
Het |
| Card11 |
C |
T |
5: 140,868,117 (GRCm39) |
V844M |
possibly damaging |
Het |
| Dnah6 |
C |
T |
6: 73,126,156 (GRCm39) |
R1327Q |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,923,549 (GRCm39) |
I427V |
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 22,039,524 (GRCm39) |
|
probably null |
Het |
| Fgg |
T |
A |
3: 82,921,496 (GRCm39) |
I393N |
possibly damaging |
Het |
| Foxq1 |
A |
T |
13: 31,742,516 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,566 (GRCm39) |
T646A |
probably benign |
Het |
| Krt80 |
A |
G |
15: 101,257,384 (GRCm39) |
F183L |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,668,354 (GRCm39) |
K647* |
probably null |
Het |
| Mcm3ap |
A |
G |
10: 76,325,891 (GRCm39) |
Y1067C |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,104,097 (GRCm39) |
Q921H |
probably benign |
Het |
| Nme8 |
A |
G |
13: 19,862,029 (GRCm39) |
F200S |
probably damaging |
Het |
| Nploc4 |
T |
C |
11: 120,309,143 (GRCm39) |
N153S |
possibly damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,591 (GRCm39) |
F209L |
probably damaging |
Het |
| Or2ak6 |
T |
C |
11: 58,592,952 (GRCm39) |
C142R |
probably damaging |
Het |
| Or4a73 |
A |
G |
2: 89,421,117 (GRCm39) |
V114A |
probably benign |
Het |
| Or5k1 |
C |
T |
16: 58,617,607 (GRCm39) |
V201I |
probably benign |
Het |
| Pipox |
T |
A |
11: 77,782,943 (GRCm39) |
L86F |
probably damaging |
Het |
| Polr3h |
G |
T |
15: 81,801,406 (GRCm39) |
L157I |
probably benign |
Het |
| Prex2 |
G |
A |
1: 11,336,376 (GRCm39) |
V1525M |
possibly damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,996,079 (GRCm39) |
D561E |
possibly damaging |
Het |
| Sacs |
A |
T |
14: 61,440,354 (GRCm39) |
D800V |
possibly damaging |
Het |
| Sbsn |
A |
T |
7: 30,451,655 (GRCm39) |
L223F |
possibly damaging |
Het |
| Slc16a9 |
TCCCC |
TCCCCC |
10: 70,091,911 (GRCm39) |
|
probably null |
Het |
| Srrm3 |
G |
T |
5: 135,864,030 (GRCm39) |
E43* |
probably null |
Het |
| Tcaf3 |
G |
A |
6: 42,570,663 (GRCm39) |
A363V |
probably damaging |
Het |
| Tmem138 |
A |
G |
19: 10,552,268 (GRCm39) |
F78S |
probably damaging |
Het |
| Tnfrsf17 |
G |
A |
16: 11,137,676 (GRCm39) |
D138N |
probably damaging |
Het |
| Tubgcp6 |
C |
T |
15: 88,986,568 (GRCm39) |
V1344I |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,266,842 (GRCm39) |
L1875* |
probably null |
Het |
| Vmn2r109 |
C |
A |
17: 20,774,798 (GRCm39) |
G186C |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,810,373 (GRCm39) |
N137D |
possibly damaging |
Het |
|
| Other mutations in Homer3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01966:Homer3
|
APN |
8 |
70,742,807 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02493:Homer3
|
APN |
8 |
70,742,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03134:Homer3
|
UTSW |
8 |
70,738,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3508:Homer3
|
UTSW |
8 |
70,744,005 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4391:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4392:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4395:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4396:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4397:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4401:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4402:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4445:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4446:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4482:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4488:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4489:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4664:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4666:Homer3
|
UTSW |
8 |
70,742,793 (GRCm39) |
splice site |
probably null |
|
|
R4751:Homer3
|
UTSW |
8 |
70,738,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Homer3
|
UTSW |
8 |
70,744,005 (GRCm39) |
missense |
probably benign |
|
|
R5828:Homer3
|
UTSW |
8 |
70,738,956 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6052:Homer3
|
UTSW |
8 |
70,744,076 (GRCm39) |
nonsense |
probably null |
|
|
R6211:Homer3
|
UTSW |
8 |
70,738,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6234:Homer3
|
UTSW |
8 |
70,743,815 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6895:Homer3
|
UTSW |
8 |
70,737,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6914:Homer3
|
UTSW |
8 |
70,744,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6942:Homer3
|
UTSW |
8 |
70,744,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7300:Homer3
|
UTSW |
8 |
70,737,953 (GRCm39) |
start codon destroyed |
probably null |
0.23 |
|
R7391:Homer3
|
UTSW |
8 |
70,742,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7553:Homer3
|
UTSW |
8 |
70,742,774 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7555:Homer3
|
UTSW |
8 |
70,742,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7721:Homer3
|
UTSW |
8 |
70,743,662 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGTGTGGTATTGTACACCAG -3'
(R):5'- GCAAAGCTCAGAGACAGCTG -3'
Sequencing Primer
(F):5'- CAGTGGGATTACAAATGCTTGCC -3'
(R):5'- TCAGAGACAGCTGGGGTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation