Mutagenetix > Incidental Mutation

Incidental Mutation 'R9303:Gng2'

705084

Institutional Source

Beutler Lab

Gene Symbol

Gng2

Ensembl Gene

ENSMUSG00000043004

Gene Name

guanine nucleotide binding protein (G protein), gamma 2

Synonyms

1110003P13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R9303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19922627-20027695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 19925961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 44 (H44N)

Ref Sequence

ENSEMBL: ENSMUSP00000125697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055100] [ENSMUST00000159028] [ENSMUST00000159073] [ENSMUST00000160013] [ENSMUST00000161247] [ENSMUST00000162425]

AlphaFold

P63213

Predicted Effect

probably damaging
Transcript: ENSMUST00000055100
AA Change: H44N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055256
Gene: ENSMUSG00000043004
AA Change: H44N

Domain	Start	End	E-Value	Type
G_gamma	5	70	5.6e-29	SMART
GGL	9	70	4.2e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000159028
AA Change: H44N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125141
Gene: ENSMUSG00000043004
AA Change: H44N

Domain	Start	End	E-Value	Type
G_gamma	5	70	5.6e-29	SMART
GGL	9	70	4.2e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000159073
AA Change: H44N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125000
Gene: ENSMUSG00000043004
AA Change: H44N

Domain	Start	End	E-Value	Type
G_gamma	5	70	5.6e-29	SMART
GGL	9	70	4.2e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000160013
AA Change: H44N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125697
Gene: ENSMUSG00000043004
AA Change: H44N

Domain	Start	End	E-Value	Type
G_gamma	5	70	5.7e-29	SMART
GGL	9	70	4.3e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000161247
AA Change: H44N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124725
Gene: ENSMUSG00000043004
AA Change: H44N

Domain	Start	End	E-Value	Type
G_gamma	5	70	5.6e-29	SMART
GGL	9	70	4.2e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162425
AA Change: H44N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124153
Gene: ENSMUSG00000043004
AA Change: H44N

Domain	Start	End	E-Value	Type
G_gamma	5	70	5.6e-29	SMART
GGL	9	70	4.2e-34	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the gamma subunits of a guanine nucleotide-binding protein. Such proteins are involved in signaling mechanisms across membranes. Various subunits forms heterodimers which then interact with the different signal molecules. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced vomeronasal basal neurons, reduced posterior glomerular layer of the accessory olfactory bulb and decreased aggression towards male mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,989 (GRCm39)	I1227V	probably benign	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adamts17	T	C	7: 66,489,645 (GRCm39)	L21P	probably damaging	Het
Adcy1	T	C	11: 7,094,766 (GRCm39)	V564A	probably damaging	Het
Adgre1	A	G	17: 57,748,275 (GRCm39)	N492D	probably benign	Het
Aldh1b1	G	A	4: 45,803,811 (GRCm39)	V450M	probably damaging	Het
Arv1	T	A	8: 125,457,685 (GRCm39)	H196Q	probably damaging	Het
Atp9a	A	T	2: 168,517,163 (GRCm39)	I390N	probably benign	Het
Bltp1	A	G	3: 37,098,969 (GRCm39)	I1277V		Het
Capn10	T	C	1: 92,871,665 (GRCm39)		probably null	Het
Casq2	A	G	3: 102,052,700 (GRCm39)	D404G	unknown	Het
Cenpf	T	C	1: 189,392,271 (GRCm39)		probably null	Het
Cep295nl	G	A	11: 118,224,766 (GRCm39)	P26L	possibly damaging	Het
Chmp4c	T	G	3: 10,454,974 (GRCm39)	S214A	probably benign	Het
Chrna5	T	C	9: 54,912,156 (GRCm39)	F319L	probably benign	Het
Csmd1	G	T	8: 16,011,532 (GRCm39)	T2507K	probably benign	Het
Ctnnd2	T	C	15: 30,967,037 (GRCm39)	M996T	probably damaging	Het
Dbf4	T	C	5: 8,448,102 (GRCm39)	T328A	unknown	Het
Ddc	C	T	11: 11,779,132 (GRCm39)	V331I	probably benign	Het
Fads2b	A	T	2: 85,330,649 (GRCm39)	C219*	probably null	Het
Fat1	T	A	8: 45,463,498 (GRCm39)	W1347R	probably damaging	Het
Fbxw21	A	G	9: 108,986,727 (GRCm39)	F51L	probably benign	Het
Hps5	G	A	7: 46,438,619 (GRCm39)	T38I	possibly damaging	Het
Igf2	G	A	7: 142,208,153 (GRCm39)	R64C	probably damaging	Het
Inpp4b	C	T	8: 82,759,758 (GRCm39)	A601V	probably damaging	Het
Kdm2a	A	G	19: 4,395,606 (GRCm39)	Y342H	probably benign	Het
Kidins220	C	A	12: 25,107,110 (GRCm39)	T1430K	probably benign	Het
Knl1	T	C	2: 118,898,829 (GRCm39)	C177R	possibly damaging	Het
Krt32	T	C	11: 99,972,029 (GRCm39)	T440A	probably benign	Het
Kynu	T	A	2: 43,569,768 (GRCm39)	F350Y	probably damaging	Het
Lama4	T	C	10: 38,973,137 (GRCm39)	L1568P	probably damaging	Het
Lrp1b	A	T	2: 41,618,574 (GRCm39)	S281T		Het
Or2y3	A	T	17: 38,393,629 (GRCm39)	V80D	probably damaging	Het
Or5h23	A	G	16: 58,906,802 (GRCm39)	S15P	probably benign	Het
Or8c19-ps1	C	T	9: 38,220,463 (GRCm39)	T124M	probably benign	Het
Orc3	G	A	4: 34,607,181 (GRCm39)	R50*	probably null	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Parp4	TG	T	14: 56,832,790 (GRCm39)		probably null	Het
Parp4	T	C	14: 56,852,224 (GRCm39)		probably null	Het
Pcdhb18	A	C	18: 37,625,004 (GRCm39)	H778P	probably benign	Het
Polg	A	T	7: 79,105,860 (GRCm39)	Y710N	probably benign	Het
Ppp2r2b	C	A	18: 42,779,025 (GRCm39)	R370L	possibly damaging	Het
Raet1e	C	T	10: 22,057,872 (GRCm39)	T213I	possibly damaging	Het
Reln	T	A	5: 22,193,705 (GRCm39)	S1418C	possibly damaging	Het
Reln	T	C	5: 22,285,689 (GRCm39)	S427G	probably benign	Het
Rhobtb2	G	A	14: 70,025,376 (GRCm39)	H633Y	probably damaging	Het
Serpina3i	T	C	12: 104,234,881 (GRCm39)	V404A	probably damaging	Het
Serpinb8	T	C	1: 107,526,769 (GRCm39)		probably null	Het
Sorl1	G	T	9: 41,900,739 (GRCm39)	Q1658K	probably damaging	Het
Tmem26	G	A	10: 68,559,816 (GRCm39)	W29*	probably null	Het
Togaram2	A	G	17: 71,996,408 (GRCm39)	E137G	probably damaging	Het
Ttc39b	A	G	4: 83,151,023 (GRCm39)	L524S	probably damaging	Het
Usp43	T	C	11: 67,767,345 (GRCm39)	N675S	probably damaging	Het
Vmn2r104	A	G	17: 20,268,439 (GRCm39)	L10P	possibly damaging	Het
Zbtb1	G	A	12: 76,432,773 (GRCm39)	R253Q	probably damaging	Het
Zfp354b	T	A	11: 50,820,256 (GRCm39)	R36S	probably damaging	Het

Other mutations in Gng2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0883:Gng2	UTSW	14	19,941,363 (GRCm39)	missense	probably benign	0.04
R4615:Gng2	UTSW	14	19,941,395 (GRCm39)	missense	possibly damaging	0.86
R4827:Gng2	UTSW	14	19,925,898 (GRCm39)	missense	possibly damaging	0.90
R5460:Gng2	UTSW	14	19,941,426 (GRCm39)	missense	probably benign	0.42
R5840:Gng2	UTSW	14	19,925,882 (GRCm39)	missense	probably damaging	0.97
R8711:Gng2	UTSW	14	19,941,438 (GRCm39)	start codon destroyed	probably null
R9096:Gng2	UTSW	14	19,941,471 (GRCm39)	critical splice acceptor site	probably null
R9305:Gng2	UTSW	14	19,925,961 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTAAACATGCACAGCCCGG -3'
(R):5'- CTTAGGTCCTCTGGCTTAGC -3'

Sequencing Primer
(F):5'- CCTCTCTTTAAATGCTGTGGACGAG -3'
(R):5'- TTAGCCTGATGAGCTCCAAG -3'

Posted On

2022-03-25