Incidental Mutation 'R7300:Homer3'
| ID |
566926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Homer3
|
| Ensembl Gene |
ENSMUSG00000003573 |
| Gene Name |
homer scaffolding protein 3 |
| Synonyms |
|
| MMRRC Submission |
045404-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R7300 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70735529-70747011 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 70737953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003669]
[ENSMUST00000087467]
[ENSMUST00000110124]
[ENSMUST00000140212]
|
| AlphaFold |
Q99JP6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003669
AA Change: M1T
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000003669
Gene: ENSMUSG00000003573
AA Change: M1T
| 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 null
Transcript: ENSMUST00000087467
AA Change: M1T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000084735
Gene: ENSMUSG00000003573
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WH1
|
1 |
107 |
4.2e-36 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110124
AA Change: M1T
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105751
Gene: ENSMUSG00000003573
AA Change: M1T
| 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 null
Transcript: ENSMUST00000140212
AA Change: M1T
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000117033
Gene: ENSMUSG00000003573
AA Change: M1T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
94% (45/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,174,411 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
C |
9: 95,747,423 (GRCm39) |
I235T |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,066 (GRCm39) |
E172G |
possibly damaging |
Het |
| Btbd2 |
A |
T |
10: 80,480,100 (GRCm39) |
I420N |
probably damaging |
Het |
| Ccdc141 |
G |
A |
2: 76,845,038 (GRCm39) |
T1343I |
probably benign |
Het |
| Cd59b |
A |
T |
2: 103,914,795 (GRCm39) |
K64N |
possibly damaging |
Het |
| Cd63 |
A |
G |
10: 128,748,034 (GRCm39) |
N144S |
probably benign |
Het |
| Cip2a |
A |
G |
16: 48,834,217 (GRCm39) |
K631E |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,464,361 (GRCm39) |
R989Q |
unknown |
Het |
| Cyp4a31 |
A |
G |
4: 115,427,468 (GRCm39) |
T225A |
probably benign |
Het |
| Dnah1 |
T |
G |
14: 30,991,798 (GRCm39) |
E3068A |
probably benign |
Het |
| Fpgt |
C |
T |
3: 154,792,612 (GRCm39) |
V472I |
probably damaging |
Het |
| Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
| Ighv1-4 |
T |
C |
12: 114,450,908 (GRCm39) |
I67V |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,459,063 (GRCm39) |
D738G |
probably benign |
Het |
| Il2ra |
A |
G |
2: 11,681,721 (GRCm39) |
T109A |
not run |
Het |
| Itgb6 |
T |
C |
2: 60,435,650 (GRCm39) |
D700G |
probably benign |
Het |
| Krt31 |
T |
C |
11: 99,938,612 (GRCm39) |
E327G |
probably damaging |
Het |
| Large1 |
A |
C |
8: 73,564,224 (GRCm39) |
L514R |
probably damaging |
Het |
| Map3k8 |
C |
T |
18: 4,349,076 (GRCm39) |
V81M |
probably damaging |
Het |
| Mstn |
T |
C |
1: 53,103,239 (GRCm39) |
S192P |
probably benign |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or13a27 |
A |
T |
7: 139,925,268 (GRCm39) |
N211K |
probably damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,588 (GRCm39) |
T151P |
possibly damaging |
Het |
| Or2y1c |
C |
T |
11: 49,361,473 (GRCm39) |
T165I |
probably benign |
Het |
| Or52i2 |
A |
G |
7: 102,319,417 (GRCm39) |
S97G |
probably benign |
Het |
| Or7g17 |
T |
C |
9: 18,768,530 (GRCm39) |
I194T |
not run |
Het |
| Or8k25 |
T |
C |
2: 86,244,330 (GRCm39) |
E22G |
probably null |
Het |
| Pde4a |
T |
C |
9: 21,117,618 (GRCm39) |
S627P |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,697,374 (GRCm39) |
I102T |
probably damaging |
Het |
| Phldb2 |
A |
G |
16: 45,645,925 (GRCm39) |
S174P |
probably damaging |
Het |
| Pla2g4e |
C |
T |
2: 120,021,680 (GRCm39) |
V143I |
probably damaging |
Het |
| Pou4f2 |
C |
T |
8: 79,162,735 (GRCm39) |
|
probably null |
Het |
| Ppl |
C |
T |
16: 4,920,235 (GRCm39) |
V387M |
possibly damaging |
Het |
| Pramel43 |
A |
T |
5: 94,760,655 (GRCm39) |
D340E |
probably benign |
Het |
| Rarg |
A |
T |
15: 102,160,852 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,758,936 (GRCm39) |
Y3414C |
probably damaging |
Het |
| Serpinb8 |
T |
A |
1: 107,535,053 (GRCm39) |
*375K |
probably null |
Het |
| Sim1 |
C |
T |
10: 50,785,614 (GRCm39) |
H228Y |
probably benign |
Het |
| Spag4 |
A |
T |
2: 155,907,541 (GRCm39) |
H87L |
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,205,479 (GRCm39) |
L289Q |
probably damaging |
Het |
| Ubac2 |
T |
C |
14: 122,142,586 (GRCm39) |
L28P |
probably damaging |
Het |
| Vmn2r31 |
C |
A |
7: 7,387,775 (GRCm39) |
A599S |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,847,826 (GRCm39) |
V2196A |
probably benign |
Het |
| Zswim5 |
A |
T |
4: 116,833,102 (GRCm39) |
I612F |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,765,830 (GRCm39) |
H1452Q |
probably benign |
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 |
|
|
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 |
|
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'- ACTGAGGAAGTGGGTGTCTGAC -3'
(R):5'- GGGTTGCATCATAGAAATAGGACAC -3'
Sequencing Primer
(F):5'- TGTCTGACCAGCAGCTGC -3'
(R):5'- CACGGTAAGTGCGTGCTTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation