Mutagenetix > Incidental Mutations

Incidental Mutation 'R0568:Gna12'

46260

Institutional Source

Beutler Lab

Gene Symbol

Gna12

Ensembl Gene

ENSMUSG00000000149

Gene Name

guanine nucleotide binding protein, alpha 12

Synonyms

Galpha12

MMRRC Submission

038759-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.864) question?

Stock #

R0568 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140758408-140830431 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140760883 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 269 (V269A)

Ref Sequence

ENSEMBL: ENSMUSP00000000153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000153]

PDB Structure

Crystal structure of G alpha 12 in complex with GDP, Mg2+ and AlF4- [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000153
AA Change: V269A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000000153
Gene: ENSMUSG00000000149
AA Change: V269A

Domain	Start	End	E-Value	Type
G_alpha	35	378	1.07e-193	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176035

Predicted Effect

unknown
Transcript: ENSMUST00000198447
AA Change: V205A

Meta Mutation Damage Score

0.1147

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

100% (38/38)

MGI Phenotype

PHENOTYPE: Mice deficient for this gene do not exhibit any detectable abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	C	T	10: 77,983,038	T181I	possibly damaging	Het
1810043G02Rik	A	T	10: 77,984,547	*250C	probably null	Het
Acnat1	G	A	4: 49,451,003	T36I	possibly damaging	Het
Adamts20	T	C	15: 94,291,713		probably benign	Het
Adamtsl1	T	C	4: 86,418,552	L1558S	probably damaging	Het
Ap3b2	A	G	7: 81,464,629		probably null	Het
Bag2	T	C	1: 33,746,978	M88V	probably benign	Het
Brms1l	A	G	12: 55,861,388		probably null	Het
C8b	A	G	4: 104,793,380	I462V	probably benign	Het
Cnpy4	A	G	5: 138,192,577	E167G	probably damaging	Het
Copa	T	C	1: 172,112,137	V624A	possibly damaging	Het
Gm4553	G	T	7: 142,165,620	P24T	unknown	Het
Gtf2ird2	G	T	5: 134,211,242	E302*	probably null	Het
Hmcn2	C	A	2: 31,415,236	S3140R	probably benign	Het
Hspa4	A	G	11: 53,262,876		probably benign	Het
Hspbp1	A	T	7: 4,684,432	L60*	probably null	Het
Lats1	A	T	10: 7,712,528	I970F	possibly damaging	Het
Lipo3	T	C	19: 33,582,042		probably benign	Het
Lrrc3	T	A	10: 77,901,585	R6W	probably damaging	Het
Lxn	C	T	3: 67,461,002	A143T	probably damaging	Het
Mga	T	C	2: 119,935,422	I1390T	probably damaging	Het
Ncapg2	T	A	12: 116,423,215	I286N	probably damaging	Het
Olfr1212	T	A	2: 88,959,043	Y192*	probably null	Het
Papd4	A	G	13: 93,154,992	S381P	probably benign	Het
Pitpnm2	A	G	5: 124,140,517		probably benign	Het
Plxna2	T	C	1: 194,751,386	V581A	probably benign	Het
Polr3d	A	T	14: 70,439,519	H378Q	possibly damaging	Het
Ptpn13	T	C	5: 103,489,765	V173A	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Smc4	T	C	3: 69,022,461		probably null	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Syngr3	C	T	17: 24,686,581	A140T	probably benign	Het
Tprn	T	C	2: 25,264,321	V545A	probably damaging	Het
Trim66	T	C	7: 109,460,695	H828R	probably benign	Het
Ugt2b5	G	A	5: 87,137,365		probably benign	Het
Vps9d1	A	G	8: 123,246,748	V432A	probably damaging	Het
Zswim9	A	T	7: 13,261,026	D401E	probably damaging	Het

Other mutations in Gna12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Gna12	APN	5	140761018	missense	probably damaging	1.00
PIT4434001:Gna12	UTSW	5	140761018	missense	probably damaging	1.00
R1793:Gna12	UTSW	5	140760952	missense	probably damaging	1.00
R1839:Gna12	UTSW	5	140762612	missense	probably benign	0.01
R2847:Gna12	UTSW	5	140785593	missense	probably damaging	1.00
R5053:Gna12	UTSW	5	140760727	missense	probably benign	0.05
R5947:Gna12	UTSW	5	140760962	missense	probably damaging	1.00
R6233:Gna12	UTSW	5	140760692	missense	possibly damaging	0.68
R7062:Gna12	UTSW	5	140785485	missense	probably benign	0.00
R7238:Gna12	UTSW	5	140830092	missense	probably damaging	1.00
R7853:Gna12	UTSW	5	140760694	missense	probably damaging	1.00
Z1176:Gna12	UTSW	5	140760553	missense	probably damaging	1.00
Z1176:Gna12	UTSW	5	140762607	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGCCCTTGAAATCTGGGAAGTG -3'
(R):5'- GGTTCTGACCATCCTGTCTCAAGC -3'

Sequencing Primer
(F):5'- AGTGCTTCTTAATGCTCACAGAC -3'
(R):5'- TAAGCAAGACATCCTGCTGG -3'

Posted On

2013-06-11