Mutagenetix > Incidental Mutation

Incidental Mutation 'R6486:Homer1'

517344

Institutional Source

Beutler Lab

Gene Symbol

Homer1

Ensembl Gene

ENSMUSG00000007617

Gene Name

homer scaffolding protein 1

Synonyms

PSD-Zip45, Ves-1

MMRRC Submission

044618-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.810) question?

Stock #

R6486 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

93436143-93541637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93528233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 78 (N78I)

Ref Sequence

ENSEMBL: ENSMUSP00000105124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060490] [ENSMUST00000079086] [ENSMUST00000080127] [ENSMUST00000109494] [ENSMUST00000109495] [ENSMUST00000109496] [ENSMUST00000109497] [ENSMUST00000109498]

AlphaFold

Q9Z2Y3

Predicted Effect

probably benign
Transcript: ENSMUST00000060490
AA Change: N240I

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000050471
Gene: ENSMUSG00000007617
AA Change: N240I

Domain	Start	End	E-Value	Type
WH1	1	107	4.27e-46	SMART
low complexity region	255	268	N/A	INTRINSIC
PDB:3CVE\|D	290	354	2e-34	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079086
AA Change: N256I

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078093
Gene: ENSMUSG00000007617
AA Change: N256I

Domain	Start	End	E-Value	Type
WH1	17	123	2.73e-44	SMART
low complexity region	271	284	N/A	INTRINSIC
PDB:3CVE\|D	306	370	3e-34	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000080127
AA Change: N252I

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079026
Gene: ENSMUSG00000007617
AA Change: N252I

Domain	Start	End	E-Value	Type
WH1	1	107	4.27e-46	SMART
low complexity region	267	280	N/A	INTRINSIC
PDB:3CVE\|D	302	366	2e-34	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000109494

SMART Domains

Protein: ENSMUSP00000105120
Gene: ENSMUSG00000007617

Domain	Start	End	E-Value	Type
WH1	1	107	4.27e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109495

SMART Domains

Protein: ENSMUSP00000105121
Gene: ENSMUSG00000007617

Domain	Start	End	E-Value	Type
WH1	1	107	4.27e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109496
AA Change: N110I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000105122
Gene: ENSMUSG00000007617
AA Change: N110I

Domain	Start	End	E-Value	Type
WH1	1	107	1.01e-38	SMART
low complexity region	125	138	N/A	INTRINSIC
PDB:3CVE\|D	160	224	2e-35	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109497
AA Change: N66I

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105123
Gene: ENSMUSG00000007617
AA Change: N66I

Domain	Start	End	E-Value	Type
low complexity region	81	94	N/A	INTRINSIC
PDB:3CVE\|D	116	180	9e-36	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109498
AA Change: N78I

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105124
Gene: ENSMUSG00000007617
AA Change: N78I

Domain	Start	End	E-Value	Type
low complexity region	93	106	N/A	INTRINSIC
PDB:3CVE\|D	128	192	9e-36	PDB

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

100% (30/30)

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 dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit an increase in spontaneous calcium influx in pancreatic acinar cells. Mice homozygous for a knock-out allele exhibit decreased response to formalin-induced pain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1d	T	A	14: 29,836,190 (GRCm39)	M853L	probably benign	Het
Cacna2d1	C	T	5: 16,524,448 (GRCm39)		probably null	Het
Capg	G	T	6: 72,534,733 (GRCm39)	E187*	probably null	Het
Carns1	C	T	19: 4,219,979 (GRCm39)	A419T	probably benign	Het
Cpt1b	A	G	15: 89,305,027 (GRCm39)	M407T	probably benign	Het
Dlg2	A	T	7: 91,521,582 (GRCm39)		probably null	Het
Ep400	T	C	5: 110,845,084 (GRCm39)		probably benign	Het
Epha4	T	C	1: 77,360,186 (GRCm39)	N704D	probably damaging	Het
Gga2	A	G	7: 121,601,411 (GRCm39)	S231P	probably damaging	Het
Gpbp1l1	A	G	4: 116,438,572 (GRCm39)	K223E	probably damaging	Het
Lmbr1	C	T	5: 29,528,859 (GRCm39)	V122M	probably damaging	Het
Mpeg1	C	A	19: 12,439,469 (GRCm39)	A309E	probably damaging	Het
Myo18a	A	G	11: 77,755,648 (GRCm39)	E1713G	possibly damaging	Het
Neto1	A	G	18: 86,479,371 (GRCm39)	I186M	probably benign	Het
Nfasc	T	C	1: 132,532,952 (GRCm39)	D668G	probably damaging	Het
Nlrc5	T	C	8: 95,247,927 (GRCm39)		probably null	Het
Or1j11	A	T	2: 36,311,556 (GRCm39)	I49F	probably damaging	Het
Or5b124	T	G	19: 13,611,055 (GRCm39)	N193K	probably damaging	Het
Or8c11	G	A	9: 38,289,200 (GRCm39)	V2I	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,570,628 (GRCm39)	S2304P	probably damaging	Het
Sgsm3	T	C	15: 80,895,546 (GRCm39)	I699T	probably damaging	Het
Slc8b1	T	C	5: 120,671,067 (GRCm39)	F551S	probably damaging	Het
Stra6	TC	T	9: 58,058,705 (GRCm39)		probably null	Het
Tlr3	T	C	8: 45,851,650 (GRCm39)		probably null	Het
Tnfrsf22	T	C	7: 143,194,493 (GRCm39)	T145A	possibly damaging	Het
Trp63	A	T	16: 25,684,090 (GRCm39)	T326S	probably damaging	Het
Unc45a	C	G	7: 79,989,400 (GRCm39)	E23Q	probably benign	Het
Vmn1r234	A	T	17: 21,449,604 (GRCm39)	M173L	probably benign	Het
Vmn2r13	T	G	5: 109,304,425 (GRCm39)	I669L	probably benign	Het
Vwa5a	G	A	9: 38,645,174 (GRCm39)	G420R	probably null	Het

Other mutations in Homer1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Homer1	APN	13	93,524,196 (GRCm39)	splice site	probably benign
IGL00427:Homer1	APN	13	93,538,622 (GRCm39)	missense	probably benign	0.05
IGL00479:Homer1	APN	13	93,483,156 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Homer1	UTSW	13	93,485,724 (GRCm39)	missense	probably damaging	1.00
R0153:Homer1	UTSW	13	93,528,254 (GRCm39)	missense	possibly damaging	0.92
R3025:Homer1	UTSW	13	93,538,582 (GRCm39)	nonsense	probably null
R3437:Homer1	UTSW	13	93,502,929 (GRCm39)	intron	probably benign
R4418:Homer1	UTSW	13	93,538,577 (GRCm39)	missense	probably damaging	1.00
R4666:Homer1	UTSW	13	93,538,667 (GRCm39)	missense	probably damaging	0.99
R4718:Homer1	UTSW	13	93,528,272 (GRCm39)	missense	probably damaging	1.00
R5413:Homer1	UTSW	13	93,528,287 (GRCm39)	missense	probably benign	0.01
R5665:Homer1	UTSW	13	93,492,610 (GRCm39)	missense	probably benign	0.03
R5798:Homer1	UTSW	13	93,538,603 (GRCm39)	missense	probably damaging	1.00
R6092:Homer1	UTSW	13	93,502,945 (GRCm39)	intron	probably benign
R6617:Homer1	UTSW	13	93,478,370 (GRCm39)	missense	probably damaging	1.00
R7101:Homer1	UTSW	13	93,492,562 (GRCm39)	missense	probably benign	0.00
R7384:Homer1	UTSW	13	93,529,547 (GRCm39)	missense	possibly damaging	0.90
R8362:Homer1	UTSW	13	93,502,797 (GRCm39)	missense	unknown
R8772:Homer1	UTSW	13	93,528,239 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGCACAGTCCATCTAATTATC -3'
(R):5'- CTCACTTTATTCCAGATGGTGC -3'

Sequencing Primer
(F):5'- GCACAGTCCATCTAATTATCTTTTGG -3'
(R):5'- CCAGATGGTGCTTTAGATCTGACAG -3'

Posted On

2018-05-21