Mutagenetix > Incidental Mutation

Incidental Mutation 'R7101:Homer1'

550849

Institutional Source

Beutler Lab

Gene Symbol

Homer1

Ensembl Gene

ENSMUSG00000007617

Gene Name

homer scaffolding protein 1

Synonyms

PSD-Zip45, Ves-1

MMRRC Submission

045193-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.806) question?

Stock #

R7101 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93436143-93541637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93492562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 184 (Q184K)

Ref Sequence

ENSEMBL: ENSMUSP00000078093 (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 benign
Transcript: ENSMUST00000060490
AA Change: Q168K

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

SMART Domains

Protein: ENSMUSP00000050471
Gene: ENSMUSG00000007617
AA Change: Q168K

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 benign
Transcript: ENSMUST00000079086
AA Change: Q184K

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

SMART Domains

Protein: ENSMUSP00000078093
Gene: ENSMUSG00000007617
AA Change: Q184K

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: Q168K

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

SMART Domains

Protein: ENSMUSP00000079026
Gene: ENSMUSG00000007617
AA Change: Q168K

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

possibly damaging
Transcript: ENSMUST00000102752
AA Change: Q168K

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099813
Gene: ENSMUSG00000007617
AA Change: Q168K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109492
AA Change: Q168K

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105118
Gene: ENSMUSG00000007617
AA Change: Q168K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109493
AA Change: Q168K

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105119
Gene: ENSMUSG00000007617
AA Change: Q168K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109494
AA Change: Q168K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105120
Gene: ENSMUSG00000007617
AA Change: Q168K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109495
AA Change: Q168K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105121
Gene: ENSMUSG00000007617
AA Change: Q168K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109496

SMART Domains

Protein: ENSMUSP00000105122
Gene: ENSMUSG00000007617

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,438 (GRCm39)	D568G	probably benign	Het
Angpt1	T	C	15: 42,386,965 (GRCm39)	I130V	probably benign	Het
Ankrd11	G	T	8: 123,622,194 (GRCm39)	Q553K	probably benign	Het
Ankrd42	A	T	7: 92,280,752 (GRCm39)	H59Q	possibly damaging	Het
Ankrd52	C	T	10: 128,218,249 (GRCm39)	R318C	probably damaging	Het
Arrdc5	G	A	17: 56,601,522 (GRCm39)	T201M	probably damaging	Het
Atxn1l	A	G	8: 110,459,132 (GRCm39)	S377P	probably benign	Het
Baz2a	T	C	10: 127,957,056 (GRCm39)	F936S	possibly damaging	Het
Bicc1	T	C	10: 70,766,483 (GRCm39)	D913G	probably damaging	Het
Blnk	T	A	19: 40,961,082 (GRCm39)	M21L	probably benign	Het
Cabin1	T	C	10: 75,587,401 (GRCm39)	H132R	probably benign	Het
Ccdc154	A	G	17: 25,382,442 (GRCm39)	H88R	probably benign	Het
Cfap20dc	G	T	14: 8,511,171 (GRCm38)	S414R	possibly damaging	Het
Clic5	G	T	17: 44,586,179 (GRCm39)	A223S	probably benign	Het
Col28a1	T	A	6: 8,014,795 (GRCm39)	Y870F	possibly damaging	Het
Dhx37	G	A	5: 125,502,006 (GRCm39)	Q497*	probably null	Het
Dnah11	T	C	12: 118,031,880 (GRCm39)	T1763A	probably benign	Het
Dnajc13	T	C	9: 104,042,221 (GRCm39)	R2005G	possibly damaging	Het
Dop1a	G	A	9: 86,389,722 (GRCm39)	G541S	probably benign	Het
Drosha	C	T	15: 12,865,153 (GRCm39)	T627M	probably damaging	Het
Ephb3	C	T	16: 21,037,268 (GRCm39)	H455Y	possibly damaging	Het
Eri1	A	C	8: 35,949,777 (GRCm39)	C127G	probably damaging	Het
Faf1	A	T	4: 109,783,153 (GRCm39)	E548D	probably benign	Het
Gm3285	C	A	10: 77,698,194 (GRCm39)	C114*	probably null	Het
Gm9736	C	T	10: 77,587,167 (GRCm39)	V8I	unknown	Het
Gnptab	A	T	10: 88,276,174 (GRCm39)	M1154L	probably benign	Het
Grin1	G	A	2: 25,186,647 (GRCm39)	T770M	probably damaging	Het
Haus1	A	G	18: 77,854,570 (GRCm39)	S67P	possibly damaging	Het
Hook2	A	G	8: 85,723,680 (GRCm39)	T401A	probably benign	Het
Il6st	G	A	13: 112,631,907 (GRCm39)		probably null	Het
Kcnh8	A	T	17: 53,212,038 (GRCm39)	D612V	probably damaging	Het
Ltbr	C	G	6: 125,289,763 (GRCm39)	E144Q	probably benign	Het
Mcf2l	G	T	8: 13,063,579 (GRCm39)	R961L	possibly damaging	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo1b	G	T	1: 51,797,160 (GRCm39)	Q961K	probably benign	Het
Myo1h	C	A	5: 114,480,258 (GRCm39)	T531N		Het
Ngly1	G	A	14: 16,283,445 (GRCm38)	R408Q	probably damaging	Het
Nup133	T	C	8: 124,632,966 (GRCm39)	E1055G	possibly damaging	Het
Nutm2	A	G	13: 50,626,934 (GRCm39)	K363R	probably benign	Het
Obox8	A	T	7: 14,066,752 (GRCm39)	Y97*	probably null	Het
Odc1	A	G	12: 17,597,319 (GRCm39)	D7G	probably benign	Het
Ogfod2	C	T	5: 124,252,558 (GRCm39)	T182I	unknown	Het
Or2t49	A	G	11: 58,393,379 (GRCm39)	M7T	probably benign	Het
Or4c111	A	T	2: 88,844,324 (GRCm39)	V28E	possibly damaging	Het
Or8b12b	T	C	9: 37,684,287 (GRCm39)	S111P	probably damaging	Het
Or8b46	G	A	9: 38,450,966 (GRCm39)	M258I	probably benign	Het
Parp4	A	G	14: 56,827,430 (GRCm39)	D188G	probably benign	Het
Phactr2	T	C	10: 13,122,922 (GRCm39)	E400G	probably benign	Het
Phlpp1	G	A	1: 106,100,397 (GRCm39)	V222M	possibly damaging	Het
Ppp1r16b	T	C	2: 158,603,683 (GRCm39)	V536A	probably damaging	Het
Prex2	T	C	1: 11,223,833 (GRCm39)	V719A	possibly damaging	Het
Prpf8	C	T	11: 75,381,226 (GRCm39)	A242V	possibly damaging	Het
Prr14l	A	G	5: 32,986,771 (GRCm39)	L908P	probably damaging	Het
Prrc2b	A	G	2: 32,117,005 (GRCm39)	N2146D	possibly damaging	Het
Rtkn	T	C	6: 83,126,993 (GRCm39)	V333A	possibly damaging	Het
Samd8	T	C	14: 21,825,442 (GRCm39)	Y196H	probably benign	Het
Six5	A	G	7: 18,828,784 (GRCm39)	T75A	probably benign	Het
Slc35a4	T	A	18: 36,814,591 (GRCm39)	L42H	probably damaging	Het
Svs3a	A	T	2: 164,131,933 (GRCm39)	D168V	probably damaging	Het
Themis	T	A	10: 28,637,422 (GRCm39)	Y175*	probably null	Het
Tspan33	G	T	6: 29,716,783 (GRCm39)	R180L	probably benign	Het
Ttc28	C	T	5: 111,232,958 (GRCm39)	S145F	probably damaging	Het
Txn2	G	A	15: 77,810,878 (GRCm39)	T102I	unknown	Het
Usp34	T	A	11: 23,376,183 (GRCm39)	V1908E		Het
Vmn2r101	A	G	17: 19,809,350 (GRCm39)	I160V	probably null	Het
Vmn2r104	A	T	17: 20,250,358 (GRCm39)	C638S	possibly damaging	Het
Wdfy4	C	T	14: 32,682,777 (GRCm39)	R3136Q		Het
Zan	C	A	5: 137,396,552 (GRCm39)	A4335S	unknown	Het
Zfp180	G	T	7: 23,803,958 (GRCm39)	V126F	probably benign	Het
Zfp429	T	A	13: 67,538,931 (GRCm39)	D171V	possibly damaging	Het
Zfp638	T	C	6: 83,931,708 (GRCm39)	I798T	probably benign	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
R6617:Homer1	UTSW	13	93,478,370 (GRCm39)	missense	probably damaging	1.00
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'- TCAACTGCCATTTGATTCATCACAAAG -3'
(R):5'- TCAGTCAACTTGAGCAACCAAG -3'

Sequencing Primer
(F):5'- GTGTACTTGAACAAAAGTGTAACAC -3'
(R):5'- AGCAACCAAGAACAATAAATTAAAGG -3'

Posted On

2019-05-15