Incidental Mutation 'R4391:Homer3'
| ID |
326365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Homer3
|
| Ensembl Gene |
ENSMUSG00000003573 |
| Gene Name |
homer scaffolding protein 3 |
| Synonyms |
|
| MMRRC Submission |
041682-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R4391 (G1)
|
| Quality Score |
108 |
|
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: 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: 99.6%
- 3x: 98.6%
- 10x: 96.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (40/40) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030469F06Rik |
A |
T |
12: 31,234,622 (GRCm39) |
|
noncoding transcript |
Het |
| Actn2 |
C |
T |
13: 12,305,634 (GRCm39) |
R394Q |
probably damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,687,842 (GRCm39) |
D62G |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,839,076 (GRCm39) |
T635A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Dnah1 |
G |
A |
14: 31,016,792 (GRCm39) |
T1575I |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,376,754 (GRCm39) |
|
probably null |
Het |
| Dnajc12 |
A |
G |
10: 63,242,838 (GRCm39) |
T37A |
probably benign |
Het |
| Efcab5 |
T |
A |
11: 76,981,284 (GRCm39) |
N1354I |
probably damaging |
Het |
| Epas1 |
T |
C |
17: 87,117,091 (GRCm39) |
L218P |
probably benign |
Het |
| Fbxw15 |
T |
A |
9: 109,397,300 (GRCm39) |
|
probably benign |
Het |
| Filip1l |
C |
A |
16: 57,391,155 (GRCm39) |
S581* |
probably null |
Het |
| Focad |
T |
A |
4: 88,104,195 (GRCm39) |
I358K |
probably damaging |
Het |
| Gm382 |
T |
A |
X: 125,968,942 (GRCm39) |
S376T |
probably benign |
Het |
| Gpsm1 |
C |
T |
2: 26,214,009 (GRCm39) |
R179C |
probably damaging |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Krt39 |
C |
T |
11: 99,405,578 (GRCm39) |
A441T |
probably benign |
Het |
| Nrdc |
T |
A |
4: 108,903,841 (GRCm39) |
N662K |
probably damaging |
Het |
| Obox5 |
C |
T |
7: 15,491,899 (GRCm39) |
Q105* |
probably null |
Het |
| Or56a3b |
T |
A |
7: 104,770,793 (GRCm39) |
M43K |
possibly damaging |
Het |
| Or5af1 |
T |
A |
11: 58,722,841 (GRCm39) |
V287D |
possibly damaging |
Het |
| Or8c13 |
A |
T |
9: 38,091,645 (GRCm39) |
V158D |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,789 (GRCm39) |
L723Q |
possibly damaging |
Het |
| Pou3f3 |
G |
T |
1: 42,736,618 (GRCm39) |
A105S |
unknown |
Het |
| Ppp1r3d |
C |
T |
2: 178,055,880 (GRCm39) |
D41N |
probably damaging |
Het |
| Ppp4r1 |
A |
G |
17: 66,131,749 (GRCm39) |
N497S |
probably benign |
Het |
| Rad54b |
T |
G |
4: 11,615,570 (GRCm39) |
N859K |
probably benign |
Het |
| Sh3bp2 |
C |
T |
5: 34,707,062 (GRCm39) |
S29L |
probably benign |
Het |
| Smarcad1 |
A |
T |
6: 65,033,443 (GRCm39) |
N142I |
probably benign |
Het |
| Sp140l1 |
G |
A |
1: 85,062,852 (GRCm39) |
|
probably benign |
Het |
| Stat3 |
G |
A |
11: 100,796,378 (GRCm39) |
|
probably benign |
Het |
| Stmn3 |
T |
C |
2: 180,950,576 (GRCm39) |
R77G |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Xlr3a |
T |
C |
X: 72,135,450 (GRCm39) |
I87V |
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 |
|
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'- CCCCAGTGGCTTCAATCAAC -3'
(R):5'- ACTCCTTTAGTGACAATCAAGACCC -3'
Sequencing Primer
(F):5'- CCAGTGGCTTCAATCAACTTTAC -3'
(R):5'- AATTTCTGAGTTCGAGGCCAGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation