Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Gnal'

279652

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gnal

Ensembl Gene

ENSMUSG00000024524

Gene Name

guanine nucleotide binding protein, alpha stimulating, olfactory type

Synonyms

2610011C15Rik, G alpha 10, Galphaolf, 9630020G10Rik, Gna10, Golf

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

67221369-67359863 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 67350279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025402] [ENSMUST00000076605]

AlphaFold

Q8CGK7

Predicted Effect

probably benign
Transcript: ENSMUST00000025402

SMART Domains

Protein: ENSMUSP00000025402
Gene: ENSMUSG00000024524

Domain	Start	End	E-Value	Type
low complexity region	32	46	N/A	INTRINSIC
G_alpha	89	447	1.18e-172	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000076605

SMART Domains

Protein: ENSMUSP00000075908
Gene: ENSMUSG00000024524

Domain	Start	End	E-Value	Type
G_alpha	22	380	5.02e-176	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous for a targeted mutation fail to feed, and ~75% die within 2 days after birth. Rare survivors reach sexual maturity and mate but are hyperactive and anosmic, exhibitng severely reduced odor-evoked electrophysical responses and significantly perturbed maternal behaviors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 105,109,052 (GRCm39)	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,262,118 (GRCm39)	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,092,468 (GRCm39)	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,884,813 (GRCm39)	T788I	probably benign	Het
Asic1	T	C	15: 99,592,567 (GRCm39)		probably benign	Het
Cdhr4	T	A	9: 107,870,199 (GRCm39)	M68K	probably benign	Het
Cdhr5	G	T	7: 140,849,894 (GRCm39)	T637K	probably damaging	Het
Corin	A	T	5: 72,529,489 (GRCm39)	C289S	probably damaging	Het
Cpne4	T	C	9: 104,563,701 (GRCm39)	V26A	probably damaging	Het
Csmd1	T	C	8: 16,261,773 (GRCm39)	D908G	probably null	Het
Cyp2c29	A	G	19: 39,296,064 (GRCm39)	D126G	probably damaging	Het
Ddx42	G	A	11: 106,129,986 (GRCm39)	S426N	probably benign	Het
Dnah1	C	T	14: 31,026,958 (GRCm39)	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,006,715 (GRCm39)	T246A	probably damaging	Het
Fbn1	A	T	2: 125,205,889 (GRCm39)	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527 (GRCm39)	N536S	probably benign	Het
Gns	A	G	10: 121,226,598 (GRCm39)	T416A	probably benign	Het
Heatr5b	G	A	17: 79,124,943 (GRCm39)	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,527,548 (GRCm39)		probably benign	Het
Krt23	C	T	11: 99,383,836 (GRCm39)	G19R	probably benign	Het
Lama2	C	T	10: 27,014,956 (GRCm39)	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,815,772 (GRCm39)	V11M	probably damaging	Het
Man1a2	T	C	3: 100,489,447 (GRCm39)	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,239,204 (GRCm39)	V241F	possibly damaging	Het
Myh3	A	G	11: 66,973,750 (GRCm39)	D141G	probably benign	Het
Mylk2	G	A	2: 152,757,056 (GRCm39)	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,069,173 (GRCm39)	T471S	probably damaging	Het
Naip1	A	G	13: 100,562,096 (GRCm39)	V1023A	probably benign	Het
Olfm5	T	A	7: 103,803,438 (GRCm39)	T342S	probably benign	Het
Or10g1	A	G	14: 52,647,511 (GRCm39)	F273L	probably benign	Het
Or2f1b	T	A	6: 42,739,394 (GRCm39)	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,642,910 (GRCm39)	F263L	probably benign	Het
Plekhh2	A	T	17: 84,906,608 (GRCm39)	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,081,513 (GRCm39)		probably benign	Het
Rbm28	G	T	6: 29,138,617 (GRCm39)	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,130,524 (GRCm39)	F234L	probably benign	Het
Sele	T	C	1: 163,880,662 (GRCm39)	S415P	probably benign	Het
Shpk	T	C	11: 73,094,821 (GRCm39)	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,543,703 (GRCm39)	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,489,684 (GRCm39)	P120S	possibly damaging	Het
Slc8a2	A	G	7: 15,891,081 (GRCm39)	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,885,765 (GRCm39)	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,093,650 (GRCm39)	D739A	probably damaging	Het
Thg1l	A	G	11: 45,841,055 (GRCm39)	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,530,475 (GRCm39)	V540M	probably damaging	Het
Wdr48	A	G	9: 119,753,329 (GRCm39)	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,433,371 (GRCm39)	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,300,351 (GRCm39)	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,223,643 (GRCm39)	Y133*	probably null	Het

Other mutations in Gnal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Gnal	APN	18	67,267,360 (GRCm39)	splice site	probably null
IGL01290:Gnal	APN	18	67,344,169 (GRCm39)	missense	probably damaging	1.00
IGL02519:Gnal	APN	18	67,221,836 (GRCm39)	missense	unknown
IGL02691:Gnal	APN	18	67,355,746 (GRCm39)	missense	probably damaging	1.00
R0455:Gnal	UTSW	18	67,268,720 (GRCm39)	splice site	probably benign
R0506:Gnal	UTSW	18	67,221,744 (GRCm39)	missense	unknown
R2107:Gnal	UTSW	18	67,346,649 (GRCm39)	missense	probably damaging	1.00
R3937:Gnal	UTSW	18	67,268,441 (GRCm39)	splice site	probably null
R4246:Gnal	UTSW	18	67,221,654 (GRCm39)	missense	unknown
R4247:Gnal	UTSW	18	67,221,654 (GRCm39)	missense	unknown
R4299:Gnal	UTSW	18	67,221,654 (GRCm39)	missense	unknown
R4343:Gnal	UTSW	18	67,268,659 (GRCm39)	missense	probably benign	0.29
R5309:Gnal	UTSW	18	67,346,178 (GRCm39)	missense	possibly damaging	0.49
R5579:Gnal	UTSW	18	67,221,842 (GRCm39)	missense	unknown
R5939:Gnal	UTSW	18	67,324,456 (GRCm39)	missense	probably damaging	0.98
R6277:Gnal	UTSW	18	67,346,143 (GRCm39)	missense	probably damaging	1.00
R7031:Gnal	UTSW	18	67,355,659 (GRCm39)	missense	probably damaging	0.99
R7142:Gnal	UTSW	18	67,351,599 (GRCm39)	missense	probably damaging	1.00
R7343:Gnal	UTSW	18	67,268,596 (GRCm39)	missense	probably benign	0.03
R7366:Gnal	UTSW	18	67,344,142 (GRCm39)	missense	possibly damaging	0.58
R7806:Gnal	UTSW	18	67,346,145 (GRCm39)	missense	probably damaging	1.00
R8269:Gnal	UTSW	18	67,268,693 (GRCm39)	missense	possibly damaging	0.87
R8504:Gnal	UTSW	18	67,350,255 (GRCm39)	nonsense	probably null
R9005:Gnal	UTSW	18	67,221,830 (GRCm39)	nonsense	probably null
R9369:Gnal	UTSW	18	67,324,439 (GRCm39)	critical splice acceptor site	probably null
Z1088:Gnal	UTSW	18	67,324,474 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16