Incidental Mutation 'R4445:Homer3'
ID |
329841 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Homer3
|
Ensembl Gene |
ENSMUSG00000003573 |
Gene Name |
homer scaffolding protein 3 |
Synonyms |
|
MMRRC Submission |
041151-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.200)
|
Stock # |
R4445 (G1)
|
Quality Score |
225 |
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: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
A |
G |
10: 14,285,507 (GRCm39) |
S1160P |
probably damaging |
Het |
Adgrl1 |
T |
C |
8: 84,661,489 (GRCm39) |
L962P |
probably damaging |
Het |
Arl6 |
A |
T |
16: 59,444,676 (GRCm39) |
I51K |
probably damaging |
Het |
Calcoco1 |
A |
G |
15: 102,624,175 (GRCm39) |
|
probably null |
Het |
Cd59a |
A |
G |
2: 103,941,163 (GRCm39) |
Q47R |
probably benign |
Het |
Cdkl2 |
G |
A |
5: 92,168,168 (GRCm39) |
T342I |
probably benign |
Het |
Cfap45 |
G |
A |
1: 172,362,794 (GRCm39) |
V262M |
probably benign |
Het |
Chd8 |
A |
T |
14: 52,441,984 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
C |
T |
6: 46,736,785 (GRCm39) |
T737I |
probably benign |
Het |
Cplane1 |
A |
G |
15: 8,281,672 (GRCm39) |
D2837G |
unknown |
Het |
Crot |
T |
C |
5: 9,023,643 (GRCm39) |
H415R |
probably damaging |
Het |
Cyp17a1 |
A |
G |
19: 46,656,462 (GRCm39) |
F411L |
probably damaging |
Het |
Cyp4a12a |
G |
A |
4: 115,183,980 (GRCm39) |
|
probably null |
Het |
Cysltr2 |
G |
A |
14: 73,267,333 (GRCm39) |
H126Y |
possibly damaging |
Het |
Ddx56 |
A |
T |
11: 6,215,770 (GRCm39) |
|
probably null |
Het |
Dync2i1 |
G |
A |
12: 116,171,335 (GRCm39) |
A967V |
probably damaging |
Het |
Elmod1 |
T |
A |
9: 53,841,413 (GRCm39) |
D93V |
probably damaging |
Het |
Epb41l2 |
T |
C |
10: 25,319,701 (GRCm39) |
L178P |
possibly damaging |
Het |
Flacc1 |
A |
T |
1: 58,706,080 (GRCm39) |
I263K |
possibly damaging |
Het |
Galnt10 |
T |
A |
11: 57,674,517 (GRCm39) |
V502D |
probably damaging |
Het |
Gm11735 |
T |
C |
11: 116,629,888 (GRCm39) |
|
noncoding transcript |
Het |
H4c12 |
T |
C |
13: 21,934,513 (GRCm39) |
T55A |
possibly damaging |
Het |
Igsf9b |
A |
G |
9: 27,245,548 (GRCm39) |
T1172A |
probably benign |
Het |
Ip6k3 |
A |
G |
17: 27,364,076 (GRCm39) |
I324T |
probably benign |
Het |
Klkb1 |
C |
T |
8: 45,730,092 (GRCm39) |
S263N |
probably benign |
Het |
Lrit3 |
A |
T |
3: 129,582,180 (GRCm39) |
C602* |
probably null |
Het |
Lyst |
T |
C |
13: 13,884,149 (GRCm39) |
S2986P |
probably benign |
Het |
Mapkapk5 |
T |
C |
5: 121,663,291 (GRCm39) |
T445A |
probably benign |
Het |
Mms19 |
A |
T |
19: 41,952,372 (GRCm39) |
M119K |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,715,611 (GRCm39) |
D63G |
probably damaging |
Het |
Nscme3l |
A |
T |
19: 5,553,022 (GRCm39) |
V253D |
probably damaging |
Het |
Nsun2 |
G |
A |
13: 69,777,840 (GRCm39) |
|
probably null |
Het |
Or13a24 |
C |
A |
7: 140,154,302 (GRCm39) |
P79T |
probably damaging |
Het |
Or1ak2 |
T |
G |
2: 36,827,563 (GRCm39) |
L144R |
probably damaging |
Het |
Or2ag1b |
T |
A |
7: 106,288,353 (GRCm39) |
Y195F |
possibly damaging |
Het |
Or51t4 |
T |
C |
7: 102,598,005 (GRCm39) |
L101P |
possibly damaging |
Het |
Pabpc2 |
T |
C |
18: 39,907,253 (GRCm39) |
F173L |
probably damaging |
Het |
Rngtt |
A |
G |
4: 33,499,035 (GRCm39) |
I531V |
probably benign |
Het |
Sacs |
A |
G |
14: 61,442,135 (GRCm39) |
M1394V |
probably benign |
Het |
Setd1b |
G |
T |
5: 123,286,167 (GRCm39) |
E404D |
unknown |
Het |
Slc25a54 |
G |
A |
3: 109,005,984 (GRCm39) |
R164H |
probably benign |
Het |
Slc2a13 |
A |
G |
15: 91,234,223 (GRCm39) |
V371A |
possibly damaging |
Het |
Spag9 |
C |
G |
11: 93,988,079 (GRCm39) |
L798V |
possibly damaging |
Het |
Tbce |
A |
T |
13: 14,172,980 (GRCm39) |
S484T |
possibly damaging |
Het |
Tcf12 |
C |
T |
9: 71,776,345 (GRCm39) |
R399Q |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,615,177 (GRCm39) |
V16847A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,687,210 (GRCm39) |
|
probably benign |
Het |
Vmn1r11 |
T |
G |
6: 57,114,515 (GRCm39) |
L23V |
probably benign |
Het |
Vmn2r59 |
C |
T |
7: 41,691,874 (GRCm39) |
C541Y |
probably damaging |
Het |
Vmn2r82 |
A |
C |
10: 79,214,874 (GRCm39) |
T286P |
possibly damaging |
Het |
Vps13c |
T |
G |
9: 67,889,777 (GRCm39) |
|
probably null |
Het |
Ypel1 |
A |
T |
16: 16,921,464 (GRCm39) |
Y73* |
probably null |
Het |
Zdhhc6 |
T |
C |
19: 55,291,169 (GRCm39) |
I349V |
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 |
|
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'- TTTAGTGACAATCAAGACCCTGAC -3'
Sequencing Primer
(F):5'- CCAGTGGCTTCAATCAACTTTAC -3'
(R):5'- AATTTCTGAGTTCGAGGCCAGC -3'
|
Posted On |
2015-07-21 |