Mutagenetix > Incidental Mutation

Incidental Mutation 'R6942:Homer3'

540600

Institutional Source

Beutler Lab

Gene Symbol

Homer3

Ensembl Gene

ENSMUSG00000003573

Gene Name

homer scaffolding protein 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R6942 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70282827-70294361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70291551 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 276 (T276I)

Ref Sequence

ENSEMBL: ENSMUSP00000117033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003669] [ENSMUST00000008004] [ENSMUST00000110124] [ENSMUST00000140212]

AlphaFold

Q99JP6

Predicted Effect

probably benign
Transcript: ENSMUST00000003669
AA Change: T279I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000003669
Gene: ENSMUSG00000003573
AA Change: T279I

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: ENSMUST00000110124
AA Change: T279I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105751
Gene: ENSMUSG00000003573
AA Change: T279I

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: ENSMUST00000135368

Predicted Effect

probably benign
Transcript: ENSMUST00000140212
AA Change: T276I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117033
Gene: ENSMUSG00000003573
AA Change: T276I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 96.2%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444G20Rik	A	T	10: 22,067,261	D273E	probably benign	Het
Acacb	T	C	5: 114,191,963		probably null	Het
Adap2	A	G	11: 80,155,065	D57G	probably benign	Het
Atmin	G	T	8: 116,956,713	V371F	probably benign	Het
Cacna1h	G	T	17: 25,385,039	A1273E	probably benign	Het
Cdh23	G	A	10: 60,438,856	T483I	possibly damaging	Het
Cnot9	T	A	1: 74,518,995	V100E	probably damaging	Het
Cog2	T	A	8: 124,545,136	V463D	probably benign	Het
Crybg3	C	T	16: 59,539,820	R2500H	possibly damaging	Het
Cyp11b2	G	A	15: 74,856,245		probably benign	Het
Cyp2j12	A	T	4: 96,112,864		probably null	Het
Dlc1	T	C	8: 36,938,210	K142E	probably benign	Het
Dpp6	G	A	5: 27,469,459	V140M	possibly damaging	Het
Fam69c	A	C	18: 84,730,424	Y49S	possibly damaging	Het
Fktn	G	A	4: 53,735,128		probably null	Het
Gas7	A	T	11: 67,660,151		probably null	Het
Grin3b	T	A	10: 79,976,119		probably null	Het
Hhatl	G	A	9: 121,788,180	A329V	probably benign	Het
Igdcc4	G	A	9: 65,120,268	S204N	probably benign	Het
Ino80	A	G	2: 119,383,502	F1196L	probably damaging	Het
Iqsec3	C	T	6: 121,473,103	C154Y	probably damaging	Het
Kank1	A	T	19: 25,424,173	D1048V	possibly damaging	Het
Kif2c	A	G	4: 117,166,378	L379P	probably damaging	Het
Kpna6	A	T	4: 129,651,721		probably null	Het
Large2	C	T	2: 92,370,822	R28H	probably damaging	Het
Map4k2	T	A	19: 6,346,709	W552R	possibly damaging	Het
Mark3	A	G	12: 111,592,654	I43M	probably null	Het
Med13l	C	A	5: 118,745,006		probably null	Het
Mtbp	T	A	15: 55,567,200	Y218N	probably damaging	Het
Olfr669	C	T	7: 104,938,897	R124C	possibly damaging	Het
Pcdhgb5	T	C	18: 37,732,643	L497P	probably damaging	Het
Pkhd1l1	A	G	15: 44,522,629	T1221A	probably damaging	Het
Pth1r	C	T	9: 110,728,016		probably null	Het
Samd8	T	C	14: 21,775,153	I59T	possibly damaging	Het
Scgb2b18	A	G	7: 33,172,139	V85A	possibly damaging	Het
Sema6c	G	T	3: 95,173,208	V906L	probably benign	Het
Serpinb9g	A	T	13: 33,494,905	T253S	probably benign	Het
Sipa1l3	T	C	7: 29,386,091	T694A	probably damaging	Het
Slc8a1	A	G	17: 81,408,120	L828P	probably damaging	Het
Spry1	T	A	3: 37,643,044	D145E	probably benign	Het
Stat6	A	T	10: 127,651,262	N213Y	probably damaging	Het
Tep1	A	G	14: 50,836,737	V1897A	possibly damaging	Het
Tmem45a	T	C	16: 56,825,782	N25S	probably benign	Het
Tmem70	T	A	1: 16,677,156	Y166N	probably damaging	Het
Trrap	T	A	5: 144,784,043	I230N	possibly damaging	Het
Ttn	A	G	2: 76,901,846		probably benign	Het
Unc79	T	A	12: 103,122,445		probably null	Het
Vmn1r43	T	A	6: 89,870,337	I56F	probably benign	Het
Zfyve16	A	T	13: 92,516,631	N815K	probably benign	Het

Other mutations in Homer3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01966:Homer3	APN	8	70290157	missense	probably damaging	0.96
IGL02493:Homer3	APN	8	70290071	missense	probably benign	0.00
IGL03134:Homer3	UTSW	8	70286335	missense	probably benign	0.00
R2436:Homer3	UTSW	8	70293056	missense	possibly damaging	0.91
R3508:Homer3	UTSW	8	70291355	missense	probably benign	0.06
R4391:Homer3	UTSW	8	70290143	splice site	probably null
R4392:Homer3	UTSW	8	70290143	splice site	probably null
R4395:Homer3	UTSW	8	70290143	splice site	probably null
R4396:Homer3	UTSW	8	70290143	splice site	probably null
R4397:Homer3	UTSW	8	70290143	splice site	probably null
R4401:Homer3	UTSW	8	70290143	splice site	probably null
R4402:Homer3	UTSW	8	70290143	splice site	probably null
R4445:Homer3	UTSW	8	70290143	splice site	probably null
R4446:Homer3	UTSW	8	70290143	splice site	probably null
R4482:Homer3	UTSW	8	70290143	splice site	probably null
R4488:Homer3	UTSW	8	70290143	splice site	probably null
R4489:Homer3	UTSW	8	70290143	splice site	probably null
R4664:Homer3	UTSW	8	70290143	splice site	probably null
R4666:Homer3	UTSW	8	70290143	splice site	probably null
R4751:Homer3	UTSW	8	70285434	missense	probably damaging	1.00
R5071:Homer3	UTSW	8	70291355	missense	probably benign
R5828:Homer3	UTSW	8	70286306	missense	probably benign	0.02
R6052:Homer3	UTSW	8	70291426	nonsense	probably null
R6211:Homer3	UTSW	8	70285524	missense	probably damaging	1.00
R6234:Homer3	UTSW	8	70291165	critical splice donor site	probably null
R6895:Homer3	UTSW	8	70285305	missense	probably damaging	0.99
R6914:Homer3	UTSW	8	70291551	missense	probably benign	0.00
R7300:Homer3	UTSW	8	70285303	start codon destroyed	probably null	0.23
R7391:Homer3	UTSW	8	70289484	missense	probably benign	0.00
R7553:Homer3	UTSW	8	70290124	missense	probably benign	0.02
R7555:Homer3	UTSW	8	70289413	missense	probably damaging	1.00
R7721:Homer3	UTSW	8	70291012	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CTTCATGTCCCAGAGGATGG -3'
(R):5'- ACTGCTCAGATGTGGGAAGAC -3'

Sequencing Primer
(F):5'- TAGCAGAGCTGGAGGCC -3'
(R):5'- AGACTAAGTATGAGGTTGCTTAGC -3'

Posted On

2018-11-06