Mutagenetix > Incidental Mutation

Incidental Mutation 'R7391:Homer3'

573443

Institutional Source

Beutler Lab

Gene Symbol

Homer3

Ensembl Gene

ENSMUSG00000003573

Gene Name

homer scaffolding protein 3

Synonyms

MMRRC Submission

045473-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R7391 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70735529-70747011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70742134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 132 (A132T)

Ref Sequence

ENSEMBL: ENSMUSP00000003669 (fasta)

Gene Model

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

AlphaFold

Q99JP6

Predicted Effect

probably benign
Transcript: ENSMUST00000003669
AA Change: A132T

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

SMART Domains

Protein: ENSMUSP00000003669
Gene: ENSMUSG00000003573
AA Change: A132T

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 benign
Transcript: ENSMUST00000110124
AA Change: A132T

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

SMART Domains

Protein: ENSMUSP00000105751
Gene: ENSMUSG00000003573
AA Change: A132T

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: A132T

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

SMART Domains

Protein: ENSMUSP00000117033
Gene: ENSMUSG00000003573
AA Change: A132T

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: 98.9%

Validation Efficiency

99% (79/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef3	A	T	10: 18,522,007 (GRCm39)	I673K	probably benign	Het
Arhgap32	C	A	9: 32,093,235 (GRCm39)	T196K	probably benign	Het
Azi2	T	A	9: 117,879,960 (GRCm39)		probably null	Het
B3gnt2	A	T	11: 22,786,482 (GRCm39)	C235*	probably null	Het
Capn5	C	T	7: 97,780,426 (GRCm39)	V315M	probably benign	Het
Ccl24	T	A	5: 135,599,676 (GRCm39)	R111S	possibly damaging	Het
Cdk9	A	G	2: 32,602,083 (GRCm39)	V45A	probably damaging	Het
Cep162	G	T	9: 87,130,547 (GRCm39)	S21*	probably null	Het
Chil3	T	A	3: 106,071,496 (GRCm39)	Y56F	probably damaging	Het
Ctr9	T	A	7: 110,642,378 (GRCm39)	L368*	probably null	Het
Ctss	A	G	3: 95,436,852 (GRCm39)	E45G	probably benign	Het
Cyp2c29	A	T	19: 39,296,211 (GRCm39)	Q214L	probably null	Het
Cyp2d34	T	A	15: 82,502,587 (GRCm39)	N183I	probably benign	Het
Dhx29	T	A	13: 113,099,393 (GRCm39)	N1139K	probably benign	Het
Elp1	C	A	4: 56,781,211 (GRCm39)	Q487H	possibly damaging	Het
Elp1	T	G	4: 56,781,212 (GRCm39)	Q487P	probably benign	Het
Ermp1	C	A	19: 29,604,468 (GRCm39)		probably null	Het
Ermp1	T	A	19: 29,604,469 (GRCm39)		probably null	Het
Evi2	A	G	11: 79,406,493 (GRCm39)	S361P	probably benign	Het
Ext2	T	A	2: 93,560,612 (GRCm39)	K518M	probably damaging	Het
Fgl1	A	C	8: 41,663,483 (GRCm39)	M15R	probably benign	Het
Fsip2	T	G	2: 82,820,663 (GRCm39)	D5465E	possibly damaging	Het
Hdlbp	A	T	1: 93,358,783 (GRCm39)	I256N	possibly damaging	Het
Hmmr	G	T	11: 40,598,613 (GRCm39)		probably null	Het
Hnrnpu	T	C	1: 178,164,643 (GRCm39)	Q165R	unknown	Het
Ift70a1	T	C	2: 75,810,359 (GRCm39)	K575E	probably benign	Het
Kcnb1	T	C	2: 166,947,370 (GRCm39)	R493G	probably damaging	Het
Kcnn3	A	T	3: 89,516,778 (GRCm39)	T396S	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krtap4-1	A	G	11: 99,518,810 (GRCm39)	S67P	unknown	Het
Lama4	G	T	10: 38,963,383 (GRCm39)		probably null	Het
Lrrtm2	T	A	18: 35,345,818 (GRCm39)	I495F	possibly damaging	Het
Mical2	A	T	7: 111,919,816 (GRCm39)	E442V	probably damaging	Het
Muc16	C	T	9: 18,550,832 (GRCm39)	V5154I	probably benign	Het
Nav3	A	T	10: 109,539,317 (GRCm39)	M2028K	probably benign	Het
Ncr1	T	A	7: 4,347,470 (GRCm39)	W249R	possibly damaging	Het
Neurod6	T	C	6: 55,656,616 (GRCm39)	D7G	probably damaging	Het
Nwd1	A	G	8: 73,389,046 (GRCm39)	E158G	probably damaging	Het
Or10ak7	A	T	4: 118,791,198 (GRCm39)	N282K	possibly damaging	Het
Or2h15	A	T	17: 38,441,941 (GRCm39)	F47L	probably benign	Het
Or2t26	A	G	11: 49,039,806 (GRCm39)	T241A	probably damaging	Het
Or2y11	T	C	11: 49,443,371 (GRCm39)	S266P	probably damaging	Het
Or51a39	T	C	7: 102,363,189 (GRCm39)	N144D	probably benign	Het
Padi2	A	G	4: 140,665,266 (GRCm39)	D457G	probably benign	Het
Parn	C	A	16: 13,485,870 (GRCm39)		probably null	Het
Pcdh1	C	T	18: 38,335,838 (GRCm39)	E266K	possibly damaging	Het
Pigr	A	G	1: 130,777,303 (GRCm39)	D703G	probably damaging	Het
Ppm1f	T	A	16: 16,732,098 (GRCm39)	S183T	probably benign	Het
Ppp2r5b	T	A	19: 6,278,544 (GRCm39)	Q455L	probably benign	Het
Pramel20	T	A	4: 143,298,876 (GRCm39)	L273H	probably damaging	Het
Ptpn13	C	T	5: 103,688,847 (GRCm39)	S880L	probably damaging	Het
R3hdm4	T	C	10: 79,746,943 (GRCm39)	K240R	probably benign	Het
Rin1	T	C	19: 5,100,888 (GRCm39)	M1T	probably null	Het
Rundc3b	T	A	5: 8,609,455 (GRCm39)	M170L	probably benign	Het
Ryr3	A	T	2: 112,611,322 (GRCm39)		probably null	Het
Scn11a	T	C	9: 119,624,783 (GRCm39)	D513G	probably damaging	Het
Slc27a2	C	A	2: 126,395,082 (GRCm39)	P3Q	unknown	Het
Slc4a8	A	G	15: 100,682,743 (GRCm39)	I187M	probably damaging	Het
Slc6a11	A	T	6: 114,215,422 (GRCm39)	I441F	probably benign	Het
Stx2	C	T	5: 129,065,867 (GRCm39)	R263Q	probably damaging	Het
Svep1	A	T	4: 58,145,185 (GRCm39)	W427R	probably damaging	Het
Tes	T	A	6: 17,096,166 (GRCm39)	H51Q	probably damaging	Het
Thnsl2	T	C	6: 71,108,914 (GRCm39)	D299G	probably damaging	Het
Tmem30b	T	C	12: 73,592,702 (GRCm39)	S138G	probably benign	Het
Tmprss11c	T	A	5: 86,385,650 (GRCm39)	H274L	probably damaging	Het
Trim10	G	A	17: 37,180,773 (GRCm39)	M1I	probably null	Het
Unc13b	A	G	4: 43,216,459 (GRCm39)	I253V	probably benign	Het
Unc80	A	G	1: 66,734,687 (GRCm39)	S3305G	probably benign	Het
Ush2a	TCACC	TC	1: 188,694,205 (GRCm39)		probably benign	Het
Virma	A	G	4: 11,508,099 (GRCm39)	D267G	probably damaging	Het
Vmn1r46	C	T	6: 89,953,607 (GRCm39)	S152L	probably benign	Het
Wdr90	T	C	17: 26,065,502 (GRCm39)	N1621S	probably benign	Het
Zfhx3	G	A	8: 109,674,475 (GRCm39)	A1842T	probably damaging	Het
Zfp583	A	G	7: 6,319,498 (GRCm39)	S505P	probably damaging	Het
Zfp608	T	C	18: 55,030,619 (GRCm39)	Y1107C	possibly damaging	Het
Zfp616	A	G	11: 73,976,155 (GRCm39)	H808R	probably benign	Het
Zfp677	T	C	17: 21,618,653 (GRCm39)	F570S	possibly damaging	Het
Zfp85	A	T	13: 67,897,410 (GRCm39)	Y221N	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
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'- TCTCAGGATGACAGGACAGGTG -3'
(R):5'- AACACTTGGAACTGCTCTCCC -3'

Sequencing Primer
(F):5'- TGACAGGACAGGTGCAGGTTG -3'
(R):5'- GCTCTCCCTCAGGTAAAATTGAG -3'

Posted On

2019-09-13