Incidental Mutation 'R4396:Homer3'
ID |
325488 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Homer3
|
Ensembl Gene |
ENSMUSG00000003573 |
Gene Name |
homer scaffolding protein 3 |
Synonyms |
|
MMRRC Submission |
041129-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.200)
|
Stock # |
R4396 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
70735529-70747011 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 70742793 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003669]
[ENSMUST00000008004]
[ENSMUST00000087467]
[ENSMUST00000110124]
[ENSMUST00000140212]
|
AlphaFold |
Q99JP6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003669
AA Change: R168Q
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000003669 Gene: ENSMUSG00000003573 AA Change: R168Q
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 |
probably benign
Transcript: ENSMUST00000087467
|
SMART Domains |
Protein: ENSMUSP00000084735 Gene: ENSMUSG00000003573
Domain | Start | End | E-Value | Type |
Pfam:WH1
|
1 |
107 |
4.2e-36 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110124
AA Change: R168Q
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105751 Gene: ENSMUSG00000003573 AA Change: R168Q
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 |
probably null
Transcript: ENSMUST00000135368
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143528
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140212
AA Change: R168Q
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117033 Gene: ENSMUSG00000003573 AA Change: R168Q
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: ENSMUST00000155711
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144890
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135692
|
Meta Mutation Damage Score |
0.3504 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (52/53) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
T |
C |
7: 119,195,143 (GRCm39) |
F552L |
probably damaging |
Het |
Actn2 |
A |
G |
13: 12,325,765 (GRCm39) |
L70P |
probably damaging |
Het |
Btbd7 |
A |
G |
12: 102,751,552 (GRCm39) |
S1071P |
probably benign |
Het |
Cd200r1 |
T |
A |
16: 44,586,417 (GRCm39) |
W16R |
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,863,478 (GRCm39) |
N120D |
probably damaging |
Het |
Col19a1 |
T |
C |
1: 24,549,947 (GRCm39) |
T317A |
unknown |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,718,361 (GRCm39) |
L1683P |
probably damaging |
Het |
Dynll1 |
A |
T |
5: 115,438,700 (GRCm39) |
C2S |
probably benign |
Het |
Elp2 |
T |
A |
18: 24,742,707 (GRCm39) |
S80T |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
Fzd3 |
A |
G |
14: 65,473,054 (GRCm39) |
I238T |
probably damaging |
Het |
Galnt7 |
A |
T |
8: 57,991,215 (GRCm39) |
F432I |
probably damaging |
Het |
Gemin5 |
T |
A |
11: 58,030,375 (GRCm39) |
T817S |
probably benign |
Het |
Gm5414 |
T |
G |
15: 101,534,101 (GRCm39) |
E294A |
probably damaging |
Het |
H2-T5 |
C |
A |
17: 36,472,861 (GRCm39) |
|
probably benign |
Het |
Kcnj4 |
C |
A |
15: 79,368,874 (GRCm39) |
A369S |
probably benign |
Het |
Llgl1 |
T |
C |
11: 60,596,834 (GRCm39) |
V145A |
probably benign |
Het |
Mdga1 |
T |
C |
17: 30,069,491 (GRCm39) |
D185G |
probably damaging |
Het |
Mettl2 |
A |
G |
11: 105,017,604 (GRCm39) |
D38G |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Mpp4 |
T |
C |
1: 59,183,961 (GRCm39) |
I260V |
possibly damaging |
Het |
Mtcl1 |
T |
C |
17: 66,651,220 (GRCm39) |
E1112G |
probably damaging |
Het |
Mtus2 |
T |
A |
5: 148,140,748 (GRCm39) |
N871K |
possibly damaging |
Het |
Mylk |
C |
T |
16: 34,732,645 (GRCm39) |
Q642* |
probably null |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Or4f57 |
A |
G |
2: 111,790,560 (GRCm39) |
I286T |
probably damaging |
Het |
Pdzd2 |
A |
T |
15: 12,387,732 (GRCm39) |
D875E |
probably benign |
Het |
Piezo1 |
G |
T |
8: 123,225,413 (GRCm39) |
T557K |
probably damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Plxnb1 |
T |
C |
9: 108,929,291 (GRCm39) |
V49A |
possibly damaging |
Het |
Pramel6 |
A |
T |
2: 87,338,874 (GRCm39) |
I25F |
probably damaging |
Het |
Rreb1 |
C |
T |
13: 38,114,419 (GRCm39) |
Q593* |
probably null |
Het |
Scn8a |
A |
G |
15: 100,870,711 (GRCm39) |
N254S |
probably damaging |
Het |
Scnn1g |
T |
G |
7: 121,339,650 (GRCm39) |
S150A |
probably benign |
Het |
Sec24a |
A |
G |
11: 51,605,991 (GRCm39) |
F686L |
possibly damaging |
Het |
Sirt1 |
T |
C |
10: 63,157,777 (GRCm39) |
T546A |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Traf5 |
A |
T |
1: 191,729,806 (GRCm39) |
V415E |
probably benign |
Het |
Traip |
C |
G |
9: 107,836,686 (GRCm39) |
T110S |
probably benign |
Het |
Treml2 |
T |
C |
17: 48,615,142 (GRCm39) |
V209A |
probably benign |
Het |
Trpv5 |
T |
C |
6: 41,634,830 (GRCm39) |
S500G |
probably benign |
Het |
Usp32 |
G |
A |
11: 84,944,801 (GRCm39) |
L296F |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Zswim1 |
A |
G |
2: 164,667,369 (GRCm39) |
D207G |
probably 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 |
R2436:Homer3
|
UTSW |
8 |
70,745,706 (GRCm39) |
missense |
possibly damaging |
0.91 |
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 |
|
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'- ATACCCCAGTGGCTTCAATC -3'
(R):5'- TAGTGACAATCAAGACCCTGAC -3'
Sequencing Primer
(F):5'- CCAGTGGCTTCAATCAACTTTAC -3'
(R):5'- AATTTCTGAGTTCGAGGCCAGC -3'
|
Posted On |
2015-07-06 |