Incidental Mutation 'R4402:Homer3'
| ID |
326678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Homer3
|
| Ensembl Gene |
ENSMUSG00000003573 |
| Gene Name |
homer scaffolding protein 3 |
| Synonyms |
|
| MMRRC Submission |
042003-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R4402 (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: 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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (61/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
A |
11: 58,771,020 (GRCm39) |
H167Q |
probably benign |
Het |
| Adamts20 |
T |
C |
15: 94,277,827 (GRCm39) |
T212A |
probably benign |
Het |
| Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
| Atl1 |
T |
G |
12: 70,005,973 (GRCm39) |
D426E |
probably benign |
Het |
| Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Canx |
T |
C |
11: 50,195,265 (GRCm39) |
T268A |
probably benign |
Het |
| Chd7 |
A |
T |
4: 8,866,353 (GRCm39) |
M842L |
possibly damaging |
Het |
| Clca4a |
T |
C |
3: 144,658,609 (GRCm39) |
T787A |
probably benign |
Het |
| Clstn3 |
T |
C |
6: 124,433,939 (GRCm39) |
Y407C |
probably damaging |
Het |
| Copa |
C |
A |
1: 171,929,791 (GRCm39) |
T286N |
probably damaging |
Het |
| Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
| Def6 |
A |
G |
17: 28,438,950 (GRCm39) |
K219E |
probably damaging |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Eif5 |
A |
T |
12: 111,508,183 (GRCm39) |
K161N |
probably benign |
Het |
| Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,292,363 (GRCm39) |
N475K |
possibly damaging |
Het |
| Gm14569 |
T |
C |
X: 35,697,146 (GRCm39) |
Y521C |
probably benign |
Het |
| Gm6124 |
T |
A |
7: 38,870,529 (GRCm39) |
|
noncoding transcript |
Het |
| Gpt2 |
A |
T |
8: 86,252,188 (GRCm39) |
D501V |
probably benign |
Het |
| Gstm2 |
T |
C |
3: 107,893,370 (GRCm39) |
K31R |
probably benign |
Het |
| Itga1 |
T |
A |
13: 115,138,102 (GRCm39) |
M428L |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kcnn4 |
T |
C |
7: 24,076,867 (GRCm39) |
W139R |
probably benign |
Het |
| Kdm7a |
T |
A |
6: 39,143,602 (GRCm39) |
R380W |
probably null |
Het |
| Khdrbs1 |
T |
G |
4: 129,635,889 (GRCm39) |
D22A |
possibly damaging |
Het |
| Liph |
A |
T |
16: 21,795,000 (GRCm39) |
I204N |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,529,456 (GRCm39) |
E2033G |
possibly damaging |
Het |
| M6pr |
C |
T |
6: 122,291,982 (GRCm39) |
|
probably benign |
Het |
| Mrm1 |
A |
G |
11: 84,709,915 (GRCm39) |
I95T |
probably damaging |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Mug1 |
C |
A |
6: 121,856,311 (GRCm39) |
F1030L |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,879,341 (GRCm39) |
|
probably benign |
Het |
| Nob1 |
A |
T |
8: 108,145,120 (GRCm39) |
|
probably benign |
Het |
| Nutm1 |
A |
C |
2: 112,080,154 (GRCm39) |
I587R |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,428,455 (GRCm39) |
K143E |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,228,227 (GRCm39) |
Q1646R |
probably benign |
Het |
| Piwil2 |
A |
T |
14: 70,646,365 (GRCm39) |
D390E |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,309,635 (GRCm39) |
L2771P |
probably damaging |
Het |
| Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
| Plekhn1 |
T |
C |
4: 156,309,813 (GRCm39) |
T135A |
probably damaging |
Het |
| Pola1 |
T |
C |
X: 92,605,029 (GRCm39) |
Y968C |
probably damaging |
Het |
| Ppp1r26 |
C |
A |
2: 28,341,618 (GRCm39) |
T416K |
probably benign |
Het |
| Psmd1 |
A |
G |
1: 86,003,673 (GRCm39) |
I153V |
possibly damaging |
Het |
| Rcan2 |
A |
G |
17: 44,264,361 (GRCm39) |
D7G |
probably benign |
Het |
| Rexo5 |
T |
C |
7: 119,433,599 (GRCm39) |
I326T |
possibly damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,530,802 (GRCm39) |
|
probably benign |
Het |
| Shc1 |
T |
C |
3: 89,333,985 (GRCm39) |
S273P |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,042,305 (GRCm39) |
V528A |
probably benign |
Het |
| Tas2r118 |
T |
C |
6: 23,969,293 (GRCm39) |
K256R |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tnfaip2 |
T |
C |
12: 111,416,285 (GRCm39) |
F516L |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,039,981 (GRCm39) |
D362G |
probably damaging |
Het |
| Wwp2 |
T |
C |
8: 108,184,610 (GRCm39) |
V106A |
probably benign |
Het |
| Zfp40 |
T |
A |
17: 23,395,693 (GRCm39) |
H230L |
possibly damaging |
Het |
| Zkscan17 |
T |
A |
11: 59,393,848 (GRCm39) |
M1L |
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 |
|
|
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 |
|
|
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'- TTAGTGACAATCAAGACCCTGAC -3'
Sequencing Primer
(F):5'- CCAGTGGCTTCAATCAACTTTAC -3'
(R):5'- AATTTCTGAGTTCGAGGCCAGC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation