Incidental Mutation 'R4395:Homer3'
| ID |
325442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Homer3
|
| Ensembl Gene |
ENSMUSG00000003573 |
| Gene Name |
homer scaffolding protein 3 |
| Synonyms |
|
| MMRRC Submission |
041684-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R4395 (G1)
|
| Quality Score |
184 |
|
Status
|
Not 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: ENSMUST00000135692
|
| 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
|
| Meta Mutation Damage Score |
0.3504 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
G |
4: 49,447,679 (GRCm39) |
Y283H |
probably benign |
Het |
| Adamtsl5 |
A |
G |
10: 80,180,736 (GRCm39) |
C109R |
probably damaging |
Het |
| Adgrg4 |
T |
G |
X: 55,977,703 (GRCm39) |
L2193V |
probably damaging |
Het |
| Alpk3 |
C |
T |
7: 80,744,703 (GRCm39) |
S1266F |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,473,457 (GRCm39) |
L1614P |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,376,527 (GRCm39) |
R2038G |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Capza2 |
T |
C |
6: 17,656,449 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
T |
C |
19: 47,740,352 (GRCm39) |
T1274A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Cisd3 |
A |
G |
11: 97,579,212 (GRCm39) |
Y115C |
probably damaging |
Het |
| Crebl2 |
A |
G |
6: 134,826,208 (GRCm39) |
E53G |
probably damaging |
Het |
| Ech1 |
T |
C |
7: 28,525,671 (GRCm39) |
S107P |
probably damaging |
Het |
| Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
| Grm8 |
T |
A |
6: 27,429,431 (GRCm39) |
I488F |
probably damaging |
Het |
| Hmga2 |
C |
T |
10: 120,311,956 (GRCm39) |
G5S |
probably damaging |
Het |
| Ifit3b |
G |
T |
19: 34,589,951 (GRCm39) |
E376* |
probably null |
Het |
| Ints5 |
A |
G |
19: 8,873,808 (GRCm39) |
E589G |
probably damaging |
Het |
| Iqsec2 |
C |
T |
X: 150,992,049 (GRCm39) |
T562I |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,821,964 (GRCm39) |
E1304G |
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,066,323 (GRCm39) |
Y101C |
probably benign |
Het |
| Maf1 |
T |
C |
15: 76,236,357 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,717,321 (GRCm39) |
K185N |
possibly damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,023,351 (GRCm39) |
S233P |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,013,432 (GRCm39) |
Q75L |
probably benign |
Het |
| Nod2 |
T |
A |
8: 89,391,019 (GRCm39) |
F427Y |
probably damaging |
Het |
| Or1s2 |
A |
T |
19: 13,758,275 (GRCm39) |
I100F |
probably benign |
Het |
| Or5p51 |
A |
G |
7: 107,444,469 (GRCm39) |
L157P |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,254,091 (GRCm39) |
D632G |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,468,326 (GRCm39) |
D298G |
probably benign |
Het |
| Rbm34 |
T |
C |
8: 127,676,131 (GRCm39) |
T375A |
probably benign |
Het |
| Slc4a7 |
C |
T |
14: 14,765,665 (GRCm38) |
T549I |
probably damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,657,844 (GRCm39) |
I565V |
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,803,274 (GRCm39) |
I47T |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,915,451 (GRCm39) |
V2028I |
probably benign |
Het |
| Tle4 |
A |
T |
19: 14,495,302 (GRCm39) |
H142Q |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,897,636 (GRCm39) |
Q804* |
probably null |
Het |
| Trpm2 |
T |
C |
10: 77,765,053 (GRCm39) |
I983V |
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,799,783 (GRCm39) |
A553T |
possibly damaging |
Het |
| Ubxn11 |
G |
T |
4: 133,843,431 (GRCm39) |
E171D |
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 |
|
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 |
|
|
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'- TACCCCAGTGGCTTCAATCAAC -3'
(R):5'- CCTTTAGTGACAATCAAGACCCTG -3'
Sequencing Primer
(F):5'- CCAGTGGCTTCAATCAACTTTAC -3'
(R):5'- AATTTCTGAGTTCGAGGCCAGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation