Mutagenetix > Incidental Mutation

Incidental Mutation 'R7555:Homer3'

584702

Institutional Source

Beutler Lab

Gene Symbol

Homer3

Ensembl Gene

ENSMUSG00000003573

Gene Name

homer scaffolding protein 3

Synonyms

MMRRC Submission

045623-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R7555 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70735529-70747011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70742063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 108 (E108G)

Ref Sequence

ENSEMBL: ENSMUSP00000003669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003669] [ENSMUST00000008004] [ENSMUST00000087467] [ENSMUST00000110124] [ENSMUST00000140212]

AlphaFold

Q99JP6

Predicted Effect

probably damaging
Transcript: ENSMUST00000003669
AA Change: E108G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003669
Gene: ENSMUSG00000003573
AA Change: E108G

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

probably damaging
Transcript: ENSMUST00000110124
AA Change: E108G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105751
Gene: ENSMUSG00000003573
AA Change: E108G

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 damaging
Transcript: ENSMUST00000140212
AA Change: E108G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117033
Gene: ENSMUSG00000003573
AA Change: E108G

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (83/83)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,248,924 (GRCm39)	I97N	probably damaging	Het
Acvrl1	A	G	15: 101,041,354 (GRCm39)	H502R	probably benign	Het
Adgrf4	T	C	17: 42,983,494 (GRCm39)	S63G	probably benign	Het
Agbl2	C	A	2: 90,621,899 (GRCm39)	L129I	probably damaging	Het
Ankrd11	C	A	8: 123,614,145 (GRCm39)	A2542S	probably damaging	Het
Armc9	A	G	1: 86,203,400 (GRCm39)	K818R	probably damaging	Het
Arsj	T	A	3: 126,231,885 (GRCm39)	C210*	probably null	Het
Aspscr1	C	T	11: 120,563,926 (GRCm39)	A11V	unknown	Het
Bicc1	G	T	10: 70,792,121 (GRCm39)	Q296K	possibly damaging	Het
Borcs5	A	C	6: 134,662,942 (GRCm39)	Q73P	probably benign	Het
Capn15	G	T	17: 26,182,406 (GRCm39)	D567E	probably damaging	Het
Catsperg1	A	C	7: 28,889,239 (GRCm39)	I866S	probably damaging	Het
Ccdc27	G	T	4: 154,126,274 (GRCm39)	H72N	unknown	Het
Ccser2	A	T	14: 36,601,457 (GRCm39)	M309K	possibly damaging	Het
Cd1d2	A	G	3: 86,894,408 (GRCm39)	S59G	probably benign	Het
Chml	G	A	1: 175,515,456 (GRCm39)	P155L	probably benign	Het
Csmd2	C	T	4: 128,346,251 (GRCm39)	P1504S		Het
Dcbld2	A	G	16: 58,269,081 (GRCm39)		probably null	Het
Ddx21	C	T	10: 62,434,022 (GRCm39)	E246K	probably benign	Het
Dhx29	C	T	13: 113,064,176 (GRCm39)		probably benign	Het
Dis3l	A	C	9: 64,219,219 (GRCm39)	Y570*	probably null	Het
Dnah14	T	A	1: 181,597,619 (GRCm39)	Y3623N	probably benign	Het
Dock8	A	G	19: 25,152,764 (GRCm39)	D1610G	probably damaging	Het
Dync1h1	T	C	12: 110,597,059 (GRCm39)	S1669P	probably benign	Het
Eif1ad12	A	C	12: 87,541,505 (GRCm39)	K5N	unknown	Het
Eif2ak4	T	A	2: 118,247,764 (GRCm39)	I267N	possibly damaging	Het
Ern2	A	T	7: 121,769,464 (GRCm39)	V854E	probably damaging	Het
Fuca2	G	A	10: 13,383,174 (GRCm39)		probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm1110	T	A	9: 26,804,924 (GRCm39)	T380S	probably benign	Het
Golga2	G	A	2: 32,178,178 (GRCm39)	R29H	probably benign	Het
Grik5	T	C	7: 24,760,022 (GRCm39)	E259G	probably benign	Het
Grm3	T	C	5: 9,620,000 (GRCm39)	T415A	probably benign	Het
Gtf3c1	A	G	7: 125,244,842 (GRCm39)	Y1731H	probably damaging	Het
Hectd2	T	C	19: 36,589,803 (GRCm39)	C643R	probably damaging	Het
Hgfac	T	C	5: 35,199,972 (GRCm39)	S118P	probably damaging	Het
Hmcn1	A	G	1: 150,480,625 (GRCm39)	V4517A	probably benign	Het
Hnrnpc	A	T	14: 52,312,610 (GRCm39)	L290*	probably null	Het
Hsd17b3	G	T	13: 64,219,816 (GRCm39)	S141R	probably benign	Het
Hspa12b	C	T	2: 130,980,396 (GRCm39)	T105I	probably damaging	Het
Ifi202b	T	C	1: 173,799,787 (GRCm39)	I231M	probably damaging	Het
Inhba	T	A	13: 16,192,222 (GRCm39)	N114K	probably benign	Het
Kmt2b	C	A	7: 30,268,835 (GRCm39)	M2631I	possibly damaging	Het
Loxhd1	C	T	18: 77,483,061 (GRCm39)	T1214I	probably damaging	Het
Lrp1	G	T	10: 127,382,731 (GRCm39)	N3683K	probably damaging	Het
Lrrc8e	A	G	8: 4,284,363 (GRCm39)	K196R	probably benign	Het
Lrrn3	A	T	12: 41,502,910 (GRCm39)	M469K	probably benign	Het
Mafb	T	C	2: 160,207,749 (GRCm39)	E283G	probably damaging	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mmp14	G	T	14: 54,675,199 (GRCm39)	R277L	possibly damaging	Het
Mucl2	T	A	15: 103,927,711 (GRCm39)	N82I	probably benign	Het
Nsun6	T	A	2: 15,001,150 (GRCm39)	T469S	possibly damaging	Het
Or13p4	T	C	4: 118,546,839 (GRCm39)	D270G	possibly damaging	Het
Or5p79	G	C	7: 108,221,933 (GRCm39)	A305P	probably damaging	Het
Or8k30	A	C	2: 86,339,691 (GRCm39)	D296A	probably damaging	Het
Osbpl5	A	T	7: 143,248,670 (GRCm39)	F631I	possibly damaging	Het
Otud3	G	T	4: 138,629,196 (GRCm39)	D190E	possibly damaging	Het
Pcdhb6	A	T	18: 37,468,332 (GRCm39)	I418F	possibly damaging	Het
Per1	G	A	11: 68,997,339 (GRCm39)	R838H	probably damaging	Het
Per2	G	A	1: 91,362,857 (GRCm39)	P395S	probably damaging	Het
Per3	G	A	4: 151,102,515 (GRCm39)	Q583*	probably null	Het
Pkhd1l1	A	T	15: 44,414,157 (GRCm39)	H2808L	possibly damaging	Het
Ppfia2	A	G	10: 106,763,687 (GRCm39)	T1227A	probably benign	Het
Pramel30	T	C	4: 144,059,311 (GRCm39)	F341L	probably benign	Het
Psg17	C	T	7: 18,551,019 (GRCm39)	D279N	probably benign	Het
Rnf167	A	G	11: 70,541,623 (GRCm39)	D235G	probably benign	Het
Rxfp3	A	G	15: 11,036,362 (GRCm39)	S337P	probably damaging	Het
Sall1	T	C	8: 89,759,786 (GRCm39)	D106G	possibly damaging	Het
Sema4f	A	G	6: 82,891,037 (GRCm39)	V590A	probably benign	Het
Setd1b	A	G	5: 123,295,820 (GRCm39)	D1102G	unknown	Het
Six2	C	A	17: 85,995,135 (GRCm39)	K82N	probably damaging	Het
Snx29	T	C	16: 11,218,806 (GRCm39)	M214T	probably benign	Het
Son	T	C	16: 91,455,810 (GRCm39)	L1519P	probably damaging	Het
Speer1h	A	T	5: 11,647,579 (GRCm39)	N106Y	probably damaging	Het
Spin1	C	T	13: 51,303,085 (GRCm39)	S226L	probably benign	Het
Stxbp5l	T	C	16: 37,143,965 (GRCm39)	D131G	probably damaging	Het
Svep1	T	C	4: 58,069,422 (GRCm39)	Y2788C	probably damaging	Het
Tbl3	C	A	17: 24,920,950 (GRCm39)		probably null	Het
Themis	A	T	10: 28,657,698 (GRCm39)	I242L	possibly damaging	Het
Tmem203	G	A	2: 25,145,742 (GRCm39)	V21M	probably benign	Het
Trp53inp1	T	C	4: 11,169,750 (GRCm39)	C171R	probably benign	Het
Tsg101	A	G	7: 46,563,159 (GRCm39)	Y32H	probably damaging	Het
Tyw1	A	G	5: 130,303,547 (GRCm39)	D305G	probably damaging	Het
Vmn1r40	A	T	6: 89,692,026 (GRCm39)	Y281F	probably damaging	Het
Vmn2r105	T	A	17: 20,447,937 (GRCm39)	T296S	probably damaging	Het
Vmn2r13	T	C	5: 109,319,557 (GRCm39)		probably null	Het
Zfp933	A	G	4: 147,910,589 (GRCm39)	F336L	probably 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
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
R7721:Homer3	UTSW	8	70,743,662 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GTCACCTCTGTAATTTGCTAAACC -3'
(R):5'- GTGCATAAATGTGGTTAGGCC -3'

Sequencing Primer
(F):5'- CCCCCTCTATGTGTCATCCTG -3'
(R):5'- TAATACAGTGCATGGCCCCTG -3'

Posted On

2019-10-17