Mutagenetix > Incidental Mutation

Incidental Mutation 'R7366:Gnal'

571847

Institutional Source

Beutler Lab

Gene Symbol

Gnal

Ensembl Gene

ENSMUSG00000024524

Gene Name

guanine nucleotide binding protein, alpha stimulating, olfactory type

Synonyms

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

MMRRC Submission

045450-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.783) question?

Stock #

R7366 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67088336-67226792 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67211071 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 239 (V239A)

Ref Sequence

ENSEMBL: ENSMUSP00000025402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025402] [ENSMUST00000076605] [ENSMUST00000210564]

AlphaFold

Q8CGK7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025402
AA Change: V239A

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025402
Gene: ENSMUSG00000024524
AA Change: V239A

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
AA Change: V172A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000075908
Gene: ENSMUSG00000024524
AA Change: V172A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210564

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.1%

Validation Efficiency

99% (94/95)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,208,118 (GRCm38)		probably null	Het
1700030K09Rik	C	T	8: 72,449,459 (GRCm38)	P244S	possibly damaging	Het
4930404N11Rik	T	C	10: 81,364,191 (GRCm38)	D165G	possibly damaging	Het
4930562C15Rik	A	G	16: 4,835,769 (GRCm38)	I61V	unknown	Het
Abcb11	C	T	2: 69,299,867 (GRCm38)	D282N	probably damaging	Het
Acbd3	A	G	1: 180,734,499 (GRCm38)	E181G	probably benign	Het
Ano3	T	C	2: 110,757,067 (GRCm38)	Y43C	probably damaging	Het
Aspa	T	A	11: 73,319,890 (GRCm38)		probably null	Het
AU018091	A	T	7: 3,156,330 (GRCm38)	N620K	probably damaging	Het
Bicc1	G	T	10: 70,943,386 (GRCm38)	T724K	probably benign	Het
Bmper	T	C	9: 23,484,004 (GRCm38)	I677T	probably damaging	Het
C3	T	A	17: 57,221,162 (GRCm38)	T686S	probably benign	Het
Cc2d2a	G	T	5: 43,729,990 (GRCm38)	R1315L	probably damaging	Het
Ccdc150	G	T	1: 54,300,382 (GRCm38)	E462*	probably null	Het
Ccdc88c	C	A	12: 100,944,950 (GRCm38)	R875L	possibly damaging	Het
Cd177	C	T	7: 24,756,722 (GRCm38)	G207D	probably damaging	Het
Cdh23	A	T	10: 60,315,692 (GRCm38)	Y2471*	probably null	Het
Cep89	G	A	7: 35,429,928 (GRCm38)	R630H	probably damaging	Het
Cmbl	A	T	15: 31,589,856 (GRCm38)	Y244F	probably benign	Het
Dcaf10	T	C	4: 45,373,919 (GRCm38)	V448A	probably damaging	Het
Ddr2	A	G	1: 169,997,964 (GRCm38)	W356R	probably damaging	Het
Depdc1a	A	G	3: 159,523,212 (GRCm38)	I534V	probably benign	Het
Dhtkd1	T	A	2: 5,917,906 (GRCm38)	I481L	probably benign	Het
Dlst	A	T	12: 85,128,315 (GRCm38)	I260L	probably benign	Het
Dnajc13	T	G	9: 104,184,706 (GRCm38)	K1350Q	probably benign	Het
Dpp4	T	C	2: 62,354,599 (GRCm38)	Y520C	probably damaging	Het
Dr1	C	A	5: 108,275,728 (GRCm38)	A127E	unknown	Het
Dsel	C	T	1: 111,861,573 (GRCm38)	G411S	probably damaging	Het
E130308A19Rik	T	C	4: 59,752,770 (GRCm38)	C628R	probably damaging	Het
Edem3	T	A	1: 151,812,614 (GRCm38)		probably null	Het
Fam20a	T	A	11: 109,673,342 (GRCm38)	Q528H	possibly damaging	Het
Fanca	T	C	8: 123,281,213 (GRCm38)	E981G	probably benign	Het
Fbp2	A	G	13: 62,837,198 (GRCm38)	V303A	possibly damaging	Het
Flii	C	T	11: 60,721,119 (GRCm38)	V353M	possibly damaging	Het
Gm10277	T	A	11: 77,785,758 (GRCm38)	Y129F	unknown	Het
Gm3159	A	T	14: 4,398,525 (GRCm38)	H72L	probably benign	Het
Gm5114	T	G	7: 39,409,344 (GRCm38)	T284P	possibly damaging	Het
Gm7168	T	C	17: 13,949,885 (GRCm38)	S505P	probably damaging	Het
Gtf2i	C	T	5: 134,265,749 (GRCm38)	E370K	probably damaging	Het
Hivep3	CGG	CG	4: 120,097,911 (GRCm38)	1141	probably null	Het
Il3	T	A	11: 54,265,883 (GRCm38)	R93S	probably benign	Het
Itsn1	A	G	16: 91,908,450 (GRCm38)	E1573G	unknown	Het
Kif26a	G	A	12: 112,163,542 (GRCm38)		probably null	Het
Klb	T	C	5: 65,372,431 (GRCm38)	M434T	probably damaging	Het
Lrp2	T	A	2: 69,483,806 (GRCm38)	R2194W	probably damaging	Het
Lrp6	G	T	6: 134,450,818 (GRCm38)	P1604T	probably damaging	Het
Mak16	A	G	8: 31,166,099 (GRCm38)	Y119H	possibly damaging	Het
Map3k19	T	A	1: 127,817,455 (GRCm38)	M1421L	probably damaging	Het
Mbd5	A	G	2: 49,274,568 (GRCm38)	I1186V	probably benign	Het
Mboat1	T	A	13: 30,202,362 (GRCm38)	C120S	possibly damaging	Het
Mctp2	T	A	7: 72,259,214 (GRCm38)	D117V	probably benign	Het
Mocos	C	A	18: 24,676,616 (GRCm38)	N425K	probably damaging	Het
Nav2	A	G	7: 49,554,203 (GRCm38)		probably null	Het
Ngfr	A	T	11: 95,574,429 (GRCm38)	W198R	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm38)	S15A	possibly damaging	Het
Obsl1	T	C	1: 75,502,964 (GRCm38)	S596G	probably damaging	Het
Olfr111	T	A	17: 37,530,817 (GRCm38)	V280D	probably damaging	Het
Olfr1414	A	G	1: 92,511,678 (GRCm38)	S117P	possibly damaging	Het
Olfr578	A	T	7: 102,984,516 (GRCm38)	I216K	probably damaging	Het
Olfr594	T	G	7: 103,220,533 (GRCm38)	Y272D	probably benign	Het
Olfr705	G	T	7: 106,873,396 (GRCm38)	P283Q	probably damaging	Het
Pithd1	T	C	4: 135,987,050 (GRCm38)	Y29C	probably benign	Het
Plcb3	T	C	19: 6,962,021 (GRCm38)	T530A	probably benign	Het
Prss40	A	T	1: 34,559,871 (GRCm38)	Y70*	probably null	Het
Ralgps1	T	C	2: 33,324,688 (GRCm38)	M61V	possibly damaging	Het
Rbp4	C	T	19: 38,124,962 (GRCm38)	R36H	possibly damaging	Het
Rnf125	A	G	18: 20,974,433 (GRCm38)	N7S	not run	Het
Rpe65	G	A	3: 159,624,729 (GRCm38)	S511N	probably benign	Het
Rspo4	A	T	2: 151,867,873 (GRCm38)	Y66F	probably damaging	Het
Ruvbl2	A	G	7: 45,422,149 (GRCm38)	S437P	probably benign	Het
Sele	C	A	1: 164,048,719 (GRCm38)	R12S	probably benign	Het
Sgo2b	T	A	8: 63,938,417 (GRCm38)	K139*	probably null	Het
Shroom3	C	A	5: 92,964,606 (GRCm38)	S1942*	probably null	Het
Slc12a9	G	A	5: 137,328,623 (GRCm38)	R191*	probably null	Het
Spag9	G	T	11: 94,108,521 (GRCm38)	V1088L	possibly damaging	Het
Sptb	T	G	12: 76,604,194 (GRCm38)	D1669A	probably damaging	Het
Sptlc2	A	G	12: 87,314,049 (GRCm38)		probably null	Het
Sult2a8	A	T	7: 14,416,329 (GRCm38)		probably null	Het
Synpo2	A	G	3: 123,114,041 (GRCm38)	V542A	probably damaging	Het
Tecpr2	T	C	12: 110,915,480 (GRCm38)		probably null	Het
Tenm2	T	C	11: 36,069,414 (GRCm38)	T1029A	probably benign	Het
Tgoln1	G	C	6: 72,616,278 (GRCm38)	T73R	probably benign	Het
Tnfaip8l1	C	A	17: 56,171,897 (GRCm38)	N62K	probably damaging	Het
Tollip	A	G	7: 141,889,597 (GRCm38)	S174P	probably benign	Het
Trp53tg5	A	G	2: 164,471,107 (GRCm38)	I216T	possibly damaging	Het
Tssk5	A	G	15: 76,374,513 (GRCm38)	S58P	probably benign	Het
Ttc9b	T	C	7: 27,654,959 (GRCm38)	Y157H	probably damaging	Het
Tuba8	A	G	6: 121,222,912 (GRCm38)	Y185C	probably damaging	Het
Ubr2	C	T	17: 46,955,845 (GRCm38)	A1127T	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573 (GRCm38)		probably benign	Het
Yipf3	T	A	17: 46,248,929 (GRCm38)	L57Q	possibly damaging	Het
Zbtb32	A	C	7: 30,590,181 (GRCm38)	C19G	probably damaging	Het
Zfp735	A	T	11: 73,712,153 (GRCm38)	H641L	possibly damaging	Het
Zfyve28	A	T	5: 34,232,227 (GRCm38)	Y210N	probably damaging	Het
Zpr1	T	A	9: 46,273,373 (GRCm38)		probably null	Het

Other mutations in Gnal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Gnal	APN	18	67,134,289 (GRCm38)	splice site	probably null
IGL01290:Gnal	APN	18	67,211,098 (GRCm38)	missense	probably damaging	1.00
IGL02097:Gnal	APN	18	67,217,208 (GRCm38)	splice site	probably benign
IGL02519:Gnal	APN	18	67,088,765 (GRCm38)	missense	unknown
IGL02691:Gnal	APN	18	67,222,675 (GRCm38)	missense	probably damaging	1.00
R0455:Gnal	UTSW	18	67,135,649 (GRCm38)	splice site	probably benign
R0506:Gnal	UTSW	18	67,088,673 (GRCm38)	missense	unknown
R2107:Gnal	UTSW	18	67,213,578 (GRCm38)	missense	probably damaging	1.00
R3937:Gnal	UTSW	18	67,135,370 (GRCm38)	splice site	probably null
R4246:Gnal	UTSW	18	67,088,583 (GRCm38)	missense	unknown
R4247:Gnal	UTSW	18	67,088,583 (GRCm38)	missense	unknown
R4299:Gnal	UTSW	18	67,088,583 (GRCm38)	missense	unknown
R4343:Gnal	UTSW	18	67,135,588 (GRCm38)	missense	probably benign	0.29
R5309:Gnal	UTSW	18	67,213,107 (GRCm38)	missense	possibly damaging	0.49
R5579:Gnal	UTSW	18	67,088,771 (GRCm38)	missense	unknown
R5939:Gnal	UTSW	18	67,191,385 (GRCm38)	missense	probably damaging	0.98
R6277:Gnal	UTSW	18	67,213,072 (GRCm38)	missense	probably damaging	1.00
R7031:Gnal	UTSW	18	67,222,588 (GRCm38)	missense	probably damaging	0.99
R7142:Gnal	UTSW	18	67,218,528 (GRCm38)	missense	probably damaging	1.00
R7343:Gnal	UTSW	18	67,135,525 (GRCm38)	missense	probably benign	0.03
R7806:Gnal	UTSW	18	67,213,074 (GRCm38)	missense	probably damaging	1.00
R8269:Gnal	UTSW	18	67,135,622 (GRCm38)	missense	possibly damaging	0.87
R8504:Gnal	UTSW	18	67,217,184 (GRCm38)	nonsense	probably null
R9005:Gnal	UTSW	18	67,088,759 (GRCm38)	nonsense	probably null
R9369:Gnal	UTSW	18	67,191,368 (GRCm38)	critical splice acceptor site	probably null
Z1088:Gnal	UTSW	18	67,191,403 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATATGTATCAGCACCTAGGCCTG -3'
(R):5'- GGGCTTCACTGCACAAGATG -3'

Sequencing Primer
(F):5'- GGCCTGTCCTCACTTTGCAAATG -3'
(R):5'- CTCAGAACTTGGTGGTAGGACC -3'

Posted On

2019-09-13