Mutagenetix > Incidental Mutation

Incidental Mutation 'R0455:Gnal'

39988

Institutional Source

Beutler Lab

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

MMRRC Submission

038655-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.757) question?

Stock #

R0455 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67221369-67359863 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 67268720 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

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,088,180 (GRCm39)	G342D	possibly damaging	Het
Acvr2b	C	T	9: 119,261,675 (GRCm39)	R399W	probably damaging	Het
Arb2a	T	A	13: 77,982,832 (GRCm39)		probably benign	Het
Atf6	A	G	1: 170,662,492 (GRCm39)	V256A	probably benign	Het
Atp2b4	A	T	1: 133,656,454 (GRCm39)	I732N	probably damaging	Het
C1qtnf9	A	C	14: 61,009,820 (GRCm39)	Q25H	probably damaging	Het
Ccdc6	T	A	10: 69,978,401 (GRCm39)		probably benign	Het
Cds2	T	C	2: 132,127,887 (GRCm39)		probably null	Het
Chdh	A	G	14: 29,756,603 (GRCm39)	Y343C	probably damaging	Het
Col5a2	T	C	1: 45,421,262 (GRCm39)		probably benign	Het
Cts3	G	A	13: 61,716,024 (GRCm39)		probably benign	Het
Cyfip1	T	A	7: 55,541,802 (GRCm39)	D362E	probably benign	Het
Dsg1b	T	A	18: 20,529,082 (GRCm39)	S273T	probably benign	Het
Dysf	A	T	6: 84,117,649 (GRCm39)	H1274L	probably benign	Het
Eva1c	T	C	16: 90,672,986 (GRCm39)	S187P	probably benign	Het
Fam13b	G	A	18: 34,578,581 (GRCm39)		probably benign	Het
Fbn2	C	T	18: 58,168,408 (GRCm39)	G2310S	probably damaging	Het
Fcna	T	C	2: 25,515,520 (GRCm39)	Y183C	probably damaging	Het
Fnta	T	C	8: 26,491,056 (GRCm39)	T263A	probably benign	Het
Gm94	T	C	18: 43,914,309 (GRCm39)	D83G	possibly damaging	Het
Grb7	T	G	11: 98,343,014 (GRCm39)	S244A	probably benign	Het
Grm3	T	C	5: 9,562,477 (GRCm39)	T458A	probably benign	Het
Hdac2	C	T	10: 36,867,832 (GRCm39)	R193C	probably damaging	Het
Hycc2	T	C	1: 58,573,638 (GRCm39)		probably benign	Het
Ighmbp2	T	C	19: 3,315,072 (GRCm39)	R783G	probably benign	Het
Inpp5j	G	T	11: 3,453,122 (GRCm39)	L43I	possibly damaging	Het
Itga11	A	T	9: 62,604,243 (GRCm39)	T44S	probably damaging	Het
Itsn1	C	T	16: 91,665,036 (GRCm39)		probably benign	Het
Kdm6b	G	T	11: 69,297,822 (GRCm39)	C233*	probably null	Het
Lamb3	T	C	1: 193,025,700 (GRCm39)	L1130P	probably damaging	Het
Lrch3	T	C	16: 32,807,250 (GRCm39)	F508L	probably damaging	Het
Lrrd1	T	A	5: 3,916,425 (GRCm39)	V814E	probably benign	Het
Megf10	C	T	18: 57,386,054 (GRCm39)	P356S	probably benign	Het
Myorg	G	A	4: 41,499,538 (GRCm39)	R31*	probably null	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Nus1	T	A	10: 52,306,190 (GRCm39)	V42E	probably damaging	Het
Or11g24	A	G	14: 50,662,359 (GRCm39)	I128V	possibly damaging	Het
Or2a51	A	C	6: 43,179,006 (GRCm39)	M143L	probably benign	Het
Padi3	T	C	4: 140,523,024 (GRCm39)	N306S	probably damaging	Het
Pex13	T	C	11: 23,605,949 (GRCm39)	S94G	probably benign	Het
Ppm1h	G	T	10: 122,638,229 (GRCm39)	Q166H	probably benign	Het
Ptafr	A	T	4: 132,307,396 (GRCm39)	Y262F	probably benign	Het
Rabgap1	T	A	2: 37,377,132 (GRCm39)	D321E	probably damaging	Het
Samsn1	C	T	16: 75,742,113 (GRCm39)		noncoding transcript	Het
Scarb1	T	C	5: 125,366,745 (GRCm39)	N63D	probably damaging	Het
Serpinb7	T	C	1: 107,379,340 (GRCm39)	I249T	possibly damaging	Het
Srpra	A	G	9: 35,126,277 (GRCm39)	K490R	probably benign	Het
Sycn	A	G	7: 28,240,398 (GRCm39)	N22D	probably benign	Het
Tarbp1	C	T	8: 127,167,612 (GRCm39)	A1067T	probably benign	Het
Tex14	A	G	11: 87,405,131 (GRCm39)	D681G	possibly damaging	Het
Usp34	C	T	11: 23,396,741 (GRCm39)		probably benign	Het
Vmn2r107	T	C	17: 20,595,085 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,187,528 (GRCm39)	M653K	probably benign	Het
Wrap73	T	A	4: 154,233,200 (GRCm39)	S125T	possibly damaging	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
IGL02097:Gnal	APN	18	67,350,279 (GRCm39)	splice site	probably benign
IGL02519:Gnal	APN	18	67,221,836 (GRCm39)	missense	unknown
IGL02691:Gnal	APN	18	67,355,746 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TCTACCTGATGCTGCACATTCACTG -3'
(R):5'- CGTCGCATTTCTGAAAGACAAGCTG -3'

Sequencing Primer
(F):5'- CCGCTCACCTGAAGTGTTATAAG -3'
(R):5'- AGACAAGCTGTCTCCCTGATG -3'

Posted On

2013-05-23