Mutagenetix > Incidental Mutation

Incidental Mutation 'R4704:Gnao1'

356297

Institutional Source

Beutler Lab

Gene Symbol

Gnao1

Ensembl Gene

ENSMUSG00000031748

Gene Name

guanine nucleotide binding protein, alpha O

Synonyms

Galphao, Go alpha, alphaO

MMRRC Submission

041952-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4704 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

94536781-94696016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94538004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 14 (E14G)

Ref Sequence

ENSEMBL: ENSMUSP00000148550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034198] [ENSMUST00000125716] [ENSMUST00000137202] [ENSMUST00000138659]

AlphaFold

P18872

Predicted Effect

probably benign
Transcript: ENSMUST00000034198
AA Change: E14G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000034198
Gene: ENSMUSG00000031748
AA Change: E14G

Domain	Start	End	E-Value	Type
G_alpha	13	353	2.34e-226	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125695

Predicted Effect

probably benign
Transcript: ENSMUST00000125716
AA Change: E14G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000114144
Gene: ENSMUSG00000031748
AA Change: E14G

Domain	Start	End	E-Value	Type
G_alpha	13	353	2.34e-226	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137202

SMART Domains

Protein: ENSMUSP00000119220
Gene: ENSMUSG00000031748

Domain	Start	End	E-Value	Type
G_alpha	1	179	1.18e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138659
AA Change: E14G

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181864

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212638

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (89/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice lacking both isoforms exhibit reduced survival, sterility, low body weight, hyperalgesia, tremors, turning behavior, impaired locomotion, altered channel response and improved glucose tolerance. Isoform-specific deletion may lead to increased insulin release and abnormal eye electrophysiology. [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
2310057M21Rik	A	T	7: 130,959,259 (GRCm39)	M147K	probably damaging	Het
Abca13	A	G	11: 9,226,990 (GRCm39)	D582G	possibly damaging	Het
Abca2	T	C	2: 25,333,424 (GRCm39)	L1683P	probably damaging	Het
Adam39	A	G	8: 41,278,833 (GRCm39)	H408R	probably benign	Het
Adcy4	A	G	14: 56,012,482 (GRCm39)	S554P	possibly damaging	Het
Ahnak	T	C	19: 8,990,545 (GRCm39)	I3943T	probably damaging	Het
Ahnak	T	G	19: 8,989,622 (GRCm39)		probably benign	Het
Alkal2	T	A	12: 30,937,195 (GRCm39)	S109R	probably damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Arpc3	A	G	5: 122,538,471 (GRCm39)	M1V	probably null	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Ascc3	A	G	10: 50,535,110 (GRCm39)	I668V	probably benign	Het
Bdnf	T	A	2: 109,554,037 (GRCm39)	M137K	possibly damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Cds2	T	A	2: 132,142,522 (GRCm39)	Y239*	probably null	Het
Cpped1	G	A	16: 11,703,493 (GRCm39)		probably benign	Het
Ctu2	G	A	8: 123,206,042 (GRCm39)	R261Q	probably damaging	Het
Cux1	A	G	5: 136,278,055 (GRCm39)	V645A	probably benign	Het
Cyp4f13	A	G	17: 33,144,709 (GRCm39)	C401R	probably damaging	Het
Dpt	T	G	1: 164,646,518 (GRCm39)	Y162*	probably null	Het
Ednra	A	G	8: 78,394,592 (GRCm39)		probably benign	Het
Eepd1	A	G	9: 25,394,122 (GRCm39)	T129A	probably benign	Het
Eif2s1	A	G	12: 78,923,944 (GRCm39)	T134A	probably benign	Het
Eloa	A	G	4: 135,738,525 (GRCm39)	V145A	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Eng	T	C	2: 32,568,924 (GRCm39)	S484P	probably benign	Het
Eogt	A	T	6: 97,090,813 (GRCm39)	V442E	probably damaging	Het
Fam185a	C	T	5: 21,685,471 (GRCm39)		probably benign	Het
Gm4922	C	T	10: 18,660,567 (GRCm39)	V52I	probably benign	Het
Gpr75	C	A	11: 30,841,110 (GRCm39)	A5D	probably benign	Het
Hbq1b	T	A	11: 32,237,448 (GRCm39)		probably benign	Het
Hdac7	G	A	15: 97,694,097 (GRCm39)	T724M	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,781 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kifc2	T	C	15: 76,547,177 (GRCm39)		probably null	Het
Kmt2c	G	A	5: 25,519,025 (GRCm39)	Q2362*	probably null	Het
Kntc1	G	A	5: 123,949,496 (GRCm39)	E1956K	probably damaging	Het
Lama3	T	C	18: 12,686,280 (GRCm39)	V2781A	probably benign	Het
Lipt2	A	G	7: 99,809,534 (GRCm39)	E207G	probably damaging	Het
Mag	A	T	7: 30,608,598 (GRCm39)	L172Q	probably damaging	Het
Map1b	A	T	13: 99,566,983 (GRCm39)	C1913S	unknown	Het
Mical3	A	G	6: 120,935,649 (GRCm39)	S1626P	probably benign	Het
Mslnl	G	T	17: 25,957,952 (GRCm39)	W65L	possibly damaging	Het
Muc20	G	T	16: 32,599,448 (GRCm39)	A3332S	possibly damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Nkx2-3	G	A	19: 43,601,123 (GRCm39)	E62K	probably damaging	Het
Or6c2	T	C	10: 129,362,171 (GRCm39)	L25P	possibly damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcna-ps2	T	A	19: 9,260,786 (GRCm39)	V15E	possibly damaging	Het
Plekhg3	G	T	12: 76,625,012 (GRCm39)	G1285W	probably damaging	Het
Pramel29	A	T	4: 143,935,162 (GRCm39)	I193N	probably damaging	Het
Procr	A	G	2: 155,596,258 (GRCm39)	S142G	probably damaging	Het
Ptpn3	A	T	4: 57,270,119 (GRCm39)	N14K	possibly damaging	Het
Rin1	C	A	19: 5,105,018 (GRCm39)	L693I	probably damaging	Het
Ripk4	C	A	16: 97,547,204 (GRCm39)	E290*	probably null	Het
Rnf213	A	G	11: 119,331,175 (GRCm39)	Y2128C	probably damaging	Het
Saal1	T	C	7: 46,349,164 (GRCm39)		probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Serpinf1	C	A	11: 75,301,867 (GRCm39)	A263S	probably damaging	Het
Sgo2b	A	T	8: 64,380,824 (GRCm39)	D669E	probably damaging	Het
Slc30a9	T	C	5: 67,499,616 (GRCm39)		probably benign	Het
Sri	A	T	5: 8,112,430 (GRCm39)		probably null	Het
Sspo	G	A	6: 48,475,638 (GRCm39)	C4918Y	probably damaging	Het
Szt2	A	G	4: 118,251,026 (GRCm39)	Y361H	probably damaging	Het
Tbc1d12	T	A	19: 38,889,781 (GRCm39)	W404R	probably damaging	Het
Tcf20	T	C	15: 82,735,928 (GRCm39)	E1841G	possibly damaging	Het
Tep1	T	C	14: 51,074,530 (GRCm39)	T1832A	probably benign	Het
Tmem132e	G	A	11: 82,334,357 (GRCm39)	A623T	probably damaging	Het
Tmem201	A	T	4: 149,811,774 (GRCm39)	F357Y	possibly damaging	Het
Trappc13	T	G	13: 104,303,329 (GRCm39)		probably benign	Het
Trav6-5	C	T	14: 53,728,883 (GRCm39)	Q47*	probably null	Het
Ubxn1	T	A	19: 8,849,399 (GRCm39)	D47E	probably benign	Het
Vmn2r45	G	T	7: 8,486,535 (GRCm39)	S251*	probably null	Het
Wnk1	A	G	6: 119,942,705 (GRCm39)	L774S	possibly damaging	Het
Zfp189	T	C	4: 49,530,081 (GRCm39)	S395P	probably damaging	Het

Other mutations in Gnao1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00537:Gnao1	APN	8	94,538,308 (GRCm39)	missense	probably damaging	1.00
IGL02587:Gnao1	APN	8	94,677,067 (GRCm39)	splice site	probably benign
R1439:Gnao1	UTSW	8	94,690,065 (GRCm39)	missense	probably benign	0.12
R1966:Gnao1	UTSW	8	94,670,827 (GRCm39)	missense	probably benign	0.00
R3859:Gnao1	UTSW	8	94,538,273 (GRCm39)	splice site	probably benign
R4579:Gnao1	UTSW	8	94,693,532 (GRCm39)	missense	probably damaging	1.00
R4786:Gnao1	UTSW	8	94,670,931 (GRCm39)	missense	probably benign
R5648:Gnao1	UTSW	8	94,676,070 (GRCm39)	missense	probably damaging	1.00
R5930:Gnao1	UTSW	8	94,622,873 (GRCm39)	missense	probably benign
R5964:Gnao1	UTSW	8	94,693,627 (GRCm39)	missense	probably benign	0.01
R7604:Gnao1	UTSW	8	94,670,972 (GRCm39)	missense
R8426:Gnao1	UTSW	8	94,622,857 (GRCm39)	critical splice acceptor site	probably null
R8551:Gnao1	UTSW	8	94,682,735 (GRCm39)	missense	probably damaging	0.99
R8695:Gnao1	UTSW	8	94,682,795 (GRCm39)	missense	probably damaging	1.00
R8856:Gnao1	UTSW	8	94,538,045 (GRCm39)	missense	probably benign
R8901:Gnao1	UTSW	8	94,694,687 (GRCm39)	missense	probably benign	0.00
R9246:Gnao1	UTSW	8	94,676,967 (GRCm39)	missense
R9523:Gnao1	UTSW	8	94,622,861 (GRCm39)	missense
R9634:Gnao1	UTSW	8	94,682,723 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TAATCTTCGCCGCTGGAATC -3'
(R):5'- CCAACTCAGGGACCAGATTTC -3'

Sequencing Primer
(F):5'- CTTCGCCGCTGGAATCTTAATAGAG -3'
(R):5'- AGATTTCCCAGGGCGCAAG -3'

Posted On

2015-10-21