Mutagenetix > Incidental Mutation

Incidental Mutation 'R6617:Homer1'

524173

Institutional Source

Beutler Lab

Gene Symbol

Homer1

Ensembl Gene

ENSMUSG00000007617

Gene Name

homer scaffolding protein 1

Synonyms

PSD-Zip45, Ves-1

MMRRC Submission

044740-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.806) question?

Stock #

R6617 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93436143-93541637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93478370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 38 (Y38N)

Ref Sequence

ENSEMBL: ENSMUSP00000105122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060490] [ENSMUST00000079086] [ENSMUST00000080127] [ENSMUST00000102752] [ENSMUST00000109492] [ENSMUST00000109493] [ENSMUST00000109494] [ENSMUST00000109495] [ENSMUST00000109496] [ENSMUST00000109497] [ENSMUST00000109498]

AlphaFold

Q9Z2Y3

Predicted Effect

probably damaging
Transcript: ENSMUST00000060490
AA Change: Y38N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050471
Gene: ENSMUSG00000007617
AA Change: Y38N

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

probably damaging
Transcript: ENSMUST00000079086
AA Change: Y54N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078093
Gene: ENSMUSG00000007617
AA Change: Y54N

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 damaging
Transcript: ENSMUST00000080127
AA Change: Y38N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079026
Gene: ENSMUSG00000007617
AA Change: Y38N

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 damaging
Transcript: ENSMUST00000102752
AA Change: Y38N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099813
Gene: ENSMUSG00000007617
AA Change: Y38N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109492
AA Change: Y38N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105118
Gene: ENSMUSG00000007617
AA Change: Y38N

Domain	Start	End	E-Value	Type
WH1	1	107	4.27e-46	SMART
low complexity region	191	201	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109493
AA Change: Y38N

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

SMART Domains

Protein: ENSMUSP00000105119
Gene: ENSMUSG00000007617
AA Change: Y38N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109494
AA Change: Y38N

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

SMART Domains

Protein: ENSMUSP00000105120
Gene: ENSMUSG00000007617
AA Change: Y38N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109495
AA Change: Y38N

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

SMART Domains

Protein: ENSMUSP00000105121
Gene: ENSMUSG00000007617
AA Change: Y38N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109496
AA Change: Y38N

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

SMART Domains

Protein: ENSMUSP00000105122
Gene: ENSMUSG00000007617
AA Change: Y38N

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

probably benign
Transcript: ENSMUST00000109497

SMART Domains

Protein: ENSMUSP00000105123
Gene: ENSMUSG00000007617

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109498

SMART Domains

Protein: ENSMUSP00000105124
Gene: ENSMUSG00000007617

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220609

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

100% (39/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,454,152 (GRCm39)	I323K	possibly damaging	Het
Agbl4	T	A	4: 110,437,332 (GRCm39)	V81D	probably damaging	Het
Akap13	A	G	7: 75,380,111 (GRCm39)	D2147G	possibly damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Arhgef18	T	C	8: 3,489,592 (GRCm39)	L308P	probably damaging	Het
Atad2b	C	A	12: 5,074,668 (GRCm39)	L1076I	probably benign	Het
Chp2	T	C	7: 121,819,917 (GRCm39)	V59A	probably benign	Het
Cped1	T	A	6: 22,215,546 (GRCm39)	C555*	probably null	Het
Crebbp	C	T	16: 3,937,670 (GRCm39)	A698T	possibly damaging	Het
Crispld1	G	A	1: 17,798,886 (GRCm39)	M2I	probably benign	Het
Cul3	T	C	1: 80,254,156 (GRCm39)	N540S	probably damaging	Het
Dll4	A	G	2: 119,158,412 (GRCm39)	T134A	probably benign	Het
Fat2	G	A	11: 55,186,931 (GRCm39)	T1305I	probably benign	Het
Fbxw8	A	G	5: 118,280,731 (GRCm39)		probably null	Het
Gm9195	A	T	14: 72,669,215 (GRCm39)	L2649H	probably damaging	Het
Gprc5c	A	G	11: 114,754,931 (GRCm39)	I203V	probably benign	Het
Hmcn1	T	C	1: 150,619,547 (GRCm39)	D1189G	probably benign	Het
Hnrnpl	C	A	7: 28,518,009 (GRCm39)		probably benign	Het
Itgb5	A	G	16: 33,766,962 (GRCm39)	T707A	probably benign	Het
Lmbrd1	G	A	1: 24,724,509 (GRCm39)	R31Q	probably damaging	Het
Mbtps1	G	A	8: 120,264,876 (GRCm39)	P341S	probably damaging	Het
Mlxip	A	G	5: 123,580,512 (GRCm39)		probably null	Het
Myh13	A	T	11: 67,252,226 (GRCm39)	T1445S	probably benign	Het
Ncapg	C	T	5: 45,827,474 (GRCm39)	A37V	probably benign	Het
Neb	A	G	2: 52,097,759 (GRCm39)	F4909L	probably damaging	Het
Nrcam	T	A	12: 44,587,746 (GRCm39)	W141R	probably damaging	Het
Or6k4	T	G	1: 173,964,814 (GRCm39)	F168C	probably damaging	Het
Phykpl	A	G	11: 51,484,781 (GRCm39)	E247G	probably damaging	Het
Plekhh2	A	G	17: 84,873,715 (GRCm39)	I333M	possibly damaging	Het
Sorcs2	A	G	5: 36,235,310 (GRCm39)	F69L	probably damaging	Het
Sspo	C	A	6: 48,467,980 (GRCm39)	T349K	possibly damaging	Het
Stap2	A	G	17: 56,306,746 (GRCm39)	S276P	probably benign	Het
Tle1	A	G	4: 72,059,517 (GRCm39)	S275P	probably damaging	Het
Topors	G	A	4: 40,261,896 (GRCm39)	Q463*	probably null	Het
Tsc1	A	G	2: 28,577,001 (GRCm39)	D1101G	possibly damaging	Het
Tyrp1	G	A	4: 80,764,984 (GRCm39)	A54T	probably benign	Het
Vcam1	A	G	3: 115,919,711 (GRCm39)	V185A	possibly damaging	Het
Vmn2r19	T	A	6: 123,313,494 (GRCm39)	*855R	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
R6486:Homer1	UTSW	13	93,528,233 (GRCm39)	missense	possibly damaging	0.73
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'- GGACTACTTACACTTCATACTGGAAAG -3'
(R):5'- CTTGAGGGGAAAATGCTATTACTC -3'

Sequencing Primer
(F):5'- AGTTTCTCGTTAATGTAGTCACTTG -3'
(R):5'- CTATGTTGTACAAAGCAAGAG -3'

Posted On

2018-06-22