Mutagenetix > Incidental Mutation

Incidental Mutation 'R5964:Gnao1'

471952

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

044149-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94536781-94696016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94693627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 337 (D337N)

Ref Sequence

ENSEMBL: ENSMUSP00000114144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034198] [ENSMUST00000053766] [ENSMUST00000125716] [ENSMUST00000142466] [ENSMUST00000149530]

AlphaFold

P18872

Predicted Effect

probably benign
Transcript: ENSMUST00000034198
AA Change: D337N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000034198
Gene: ENSMUSG00000031748
AA Change: D337N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000053766

SMART Domains

Protein: ENSMUSP00000052258
Gene: ENSMUSG00000031751

Domain	Start	End	E-Value	Type
transmembrane domain	78	97	N/A	INTRINSIC
transmembrane domain	118	137	N/A	INTRINSIC
transmembrane domain	141	158	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
transmembrane domain	276	298	N/A	INTRINSIC
RING	337	374	1.14e-8	SMART
CUE	452	493	3.3e-11	SMART
PDB:4LAD\|B	571	596	2e-7	PDB
low complexity region	620	637	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125716
AA Change: D337N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000114144
Gene: ENSMUSG00000031748
AA Change: D337N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127900

SMART Domains

Protein: ENSMUSP00000116826
Gene: ENSMUSG00000031748

Domain	Start	End	E-Value	Type
Pfam:G-alpha	1	101	9.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142466

SMART Domains

Protein: ENSMUSP00000118463
Gene: ENSMUSG00000031748

Domain	Start	End	E-Value	Type
G_alpha	1	107	1.53e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149530

SMART Domains

Protein: ENSMUSP00000115007
Gene: ENSMUSG00000031748

Domain	Start	End	E-Value	Type
Pfam:G-alpha	1	67	4.2e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212008

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,250,874 (GRCm39)	Q581*	probably null	Het
Agl	A	G	3: 116,587,423 (GRCm39)	V44A	probably damaging	Het
Alpk3	T	A	7: 80,742,008 (GRCm39)	D608E	possibly damaging	Het
Aspm	C	A	1: 139,382,965 (GRCm39)		probably benign	Het
Bbs2	T	C	8: 94,794,995 (GRCm39)	N692S	probably benign	Het
Bend4	A	G	5: 67,575,161 (GRCm39)	I240T	probably benign	Het
Casp8	G	T	1: 58,872,895 (GRCm39)	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,634,865 (GRCm39)	I123N	probably damaging	Het
Ccr9	T	G	9: 123,608,499 (GRCm39)	I60M	probably benign	Het
Cd163	T	A	6: 124,303,531 (GRCm39)	W1066R	probably benign	Het
Cd226	A	T	18: 89,225,307 (GRCm39)	H68L	probably benign	Het
Cdkn3	T	A	14: 47,004,674 (GRCm39)	C79S	probably null	Het
Cnnm1	A	T	19: 43,458,162 (GRCm39)	E658V	probably benign	Het
Cog7	T	C	7: 121,555,252 (GRCm39)	R304G	probably damaging	Het
Cpt1a	T	A	19: 3,415,760 (GRCm39)	V286E	possibly damaging	Het
Creg2	C	A	1: 39,664,122 (GRCm39)	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,688,410 (GRCm39)	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,625,648 (GRCm39)	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,725,277 (GRCm39)	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,214,157 (GRCm39)	V744A	probably benign	Het
Dlgap2	T	A	8: 14,777,128 (GRCm39)	Y124*	probably null	Het
Dnah3	T	C	7: 119,522,103 (GRCm39)	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,730 (GRCm39)	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,052,553 (GRCm39)	V347D	probably benign	Het
Gigyf2	C	T	1: 87,334,889 (GRCm39)	T294M	probably damaging	Het
Gli3	C	G	13: 15,900,747 (GRCm39)	S1378*	probably null	Het
Gp2	T	A	7: 119,048,352 (GRCm39)	Q422L	probably benign	Het
Ifit1	T	A	19: 34,625,869 (GRCm39)	M335K	possibly damaging	Het
Ism1	T	C	2: 139,520,677 (GRCm39)	S30P	probably benign	Het
Itgax	A	G	7: 127,739,619 (GRCm39)	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,765,081 (GRCm39)	A442V	probably damaging	Het
Kif13a	T	C	13: 46,925,000 (GRCm39)	I311M	probably damaging	Het
Lrrc37	A	G	11: 103,432,946 (GRCm39)	S1232P	possibly damaging	Het
Lsm14b	T	A	2: 179,673,218 (GRCm39)	S84R	probably benign	Het
Lzts3	A	G	2: 130,478,208 (GRCm39)	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,952,191 (GRCm39)	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,311 (GRCm39)	N501I	probably damaging	Het
Mctp2	T	C	7: 71,752,925 (GRCm39)	E776G	probably damaging	Het
Mex3d	A	T	10: 80,218,421 (GRCm39)	N265K	probably damaging	Het
Myo5a	A	G	9: 75,111,115 (GRCm39)	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,580,632 (GRCm39)	M35V	probably damaging	Het
Nek4	G	A	14: 30,679,036 (GRCm39)		probably null	Het
Ngrn	T	C	7: 79,911,681 (GRCm39)		probably null	Het
Nlrp1a	T	A	11: 71,013,846 (GRCm39)	Q468L	probably benign	Het
Or11g27	T	A	14: 50,771,655 (GRCm39)	M262K	probably damaging	Het
Or5b98	A	C	19: 12,931,895 (GRCm39)	Q314P	probably benign	Het
Phtf2	T	C	5: 20,980,932 (GRCm39)	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852 (GRCm39)	Q140*	probably null	Het
Prtg	G	A	9: 72,799,536 (GRCm39)	G778E	probably benign	Het
Pum3	T	C	19: 27,397,451 (GRCm39)	E308G	probably damaging	Het
Pwp1	T	G	10: 85,718,750 (GRCm39)	F306V	probably damaging	Het
Rab24	A	T	13: 55,469,389 (GRCm39)	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,085,898 (GRCm39)	F126L	probably benign	Het
Samd13	A	T	3: 146,386,451 (GRCm39)		probably benign	Het
Serac1	T	A	17: 6,115,324 (GRCm39)	H213L	probably benign	Het
Slc45a3	A	G	1: 131,905,811 (GRCm39)	E278G	probably damaging	Het
Slit3	C	T	11: 35,591,063 (GRCm39)	R1292C	probably damaging	Het
Slx4	A	T	16: 3,818,815 (GRCm39)		probably null	Het
Smarca4	C	A	9: 21,558,726 (GRCm39)	T631K	probably benign	Het
Snx16	C	T	3: 10,499,541 (GRCm39)	R163Q	possibly damaging	Het
Stk40	T	C	4: 126,022,688 (GRCm39)	V140A	probably damaging	Het
Tcf12	A	T	9: 71,775,522 (GRCm39)	D409E	probably damaging	Het
Tgfbr2	G	T	9: 115,939,323 (GRCm39)	T168K	possibly damaging	Het
Ticam1	G	T	17: 56,578,703 (GRCm39)	H131N	probably damaging	Het
Ttn	C	A	2: 76,660,232 (GRCm39)	R7458I	possibly damaging	Het
Ttn	C	A	2: 76,543,855 (GRCm39)	E31298*	probably null	Het
Usp7	A	G	16: 8,529,966 (GRCm39)	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Wdfy4	T	C	14: 32,827,968 (GRCm39)	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,555,819 (GRCm39)	P3A	probably damaging	Het
Znhit6	A	G	3: 145,282,688 (GRCm39)	K21R	possibly 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
R4704:Gnao1	UTSW	8	94,538,004 (GRCm39)	missense	probably benign	0.38
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
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'- GGTAACACTGCTGTTCCCTC -3'
(R):5'- ATGCTCATGTGCTGTCCCAG -3'

Sequencing Primer
(F):5'- ACGCCCATCTCTCACTAGGG -3'
(R):5'- TGTGCTGTCCCAGGAAAAC -3'

Posted On

2017-03-31