Mutagenetix > Incidental Mutation

Incidental Mutation 'R8891:Gnat2'

677674

Institutional Source

Beutler Lab

Gene Symbol

Gnat2

Ensembl Gene

ENSMUSG00000009108

Gene Name

G protein subunit alpha transducin 2

Synonyms

Gt-2, Gnat-2, Tcalpha

MMRRC Submission

068753-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R8891 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108000105-108008748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108005634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 200 (D200N)

Ref Sequence

ENSEMBL: ENSMUSP00000053818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058669] [ENSMUST00000131856] [ENSMUST00000145101] [ENSMUST00000151326]

AlphaFold

P50149

Predicted Effect

SMART Domains

Protein: ENSMUSP00000053818
Gene: ENSMUSG00000009108
AA Change: D200N

Domain	Start	End	E-Value	Type
G_alpha	13	353	1.53e-221	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000131856
AA Change: D212N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121533
Gene: ENSMUSG00000009108
AA Change: D212N

Domain	Start	End	E-Value	Type
G_alpha	1	249	5.5e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145101

SMART Domains

Protein: ENSMUSP00000123125
Gene: ENSMUSG00000009108

Domain	Start	End	E-Value	Type
Pfam:G-alpha	4	113	1e-28	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000120425
Gene: ENSMUSG00000009108
AA Change: D200N

Domain	Start	End	E-Value	Type
G_alpha	13	232	1.48e-73	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in progressive degeneration of photoreceptors and normal ERG responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,772,520 (GRCm39)	K570*	probably null	Het
Abi1	T	C	2: 22,861,262 (GRCm39)	I99V	probably damaging	Het
Abtb3	G	A	10: 85,223,958 (GRCm39)	G256R	unknown	Het
Adgrg7	T	A	16: 56,572,762 (GRCm39)	E351D	probably benign	Het
Ankrd34c	T	G	9: 89,612,143 (GRCm39)	K66T	probably damaging	Het
Asap2	C	T	12: 21,162,144 (GRCm39)	R34W	probably damaging	Het
Atr	A	G	9: 95,787,813 (GRCm39)	T1469A	probably benign	Het
Ccdc168	T	C	1: 44,096,284 (GRCm39)	I1605V	probably benign	Het
Celsr1	G	T	15: 85,822,194 (GRCm39)	R1708S	probably benign	Het
Chmp2a	T	A	7: 12,767,840 (GRCm39)	E28D	probably benign	Het
Cldn24	A	T	8: 48,275,281 (GRCm39)	N35I	probably benign	Het
Coa6	G	C	8: 127,149,570 (GRCm39)		probably null	Het
Copa	C	T	1: 171,946,818 (GRCm39)	R1009C	probably damaging	Het
Crybb2	G	A	5: 113,209,913 (GRCm39)	T150M	possibly damaging	Het
Ctnnd2	A	T	15: 30,620,076 (GRCm39)	T143S	probably benign	Het
Eid3	A	G	10: 82,702,992 (GRCm39)	N151S	probably damaging	Het
Fbxo17	G	T	7: 28,434,733 (GRCm39)	V173L	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Galntl6	T	C	8: 58,415,433 (GRCm39)	N240S	probably damaging	Het
Gck	G	T	11: 5,851,733 (GRCm39)	S445R	probably damaging	Het
Gm5114	C	A	7: 39,057,718 (GRCm39)	V634F	probably benign	Het
H13	A	G	2: 152,546,049 (GRCm39)	N390S	probably benign	Het
Helz	T	A	11: 107,552,842 (GRCm39)	M1206K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kank1	G	A	19: 25,387,439 (GRCm39)	G371R	probably benign	Het
Kif13b	A	G	14: 64,982,326 (GRCm39)	T513A	probably damaging	Het
L3mbtl4	T	C	17: 68,762,781 (GRCm39)	S105P	possibly damaging	Het
Lpo	T	A	11: 87,697,848 (GRCm39)	E653V	probably benign	Het
Lyst	A	G	13: 13,887,435 (GRCm39)	D3088G	possibly damaging	Het
Man2b1	C	A	8: 85,811,084 (GRCm39)	H72N	probably damaging	Het
Mast3	A	T	8: 71,233,801 (GRCm39)	H981Q	probably damaging	Het
Meioc	T	A	11: 102,559,246 (GRCm39)	I56N	probably benign	Het
Mul1	A	C	4: 138,162,164 (GRCm39)	K32Q	probably benign	Het
Oas1c	C	T	5: 120,946,126 (GRCm39)	S124N	probably benign	Het
Omg	T	A	11: 79,393,829 (GRCm39)	K10*	probably null	Het
Or2a52	A	G	6: 43,144,750 (GRCm39)	I253V	probably benign	Het
Or4k52	A	T	2: 111,611,186 (GRCm39)	I174F	probably damaging	Het
Or6c88	A	G	10: 129,407,046 (GRCm39)	H174R	probably damaging	Het
Pcdhb14	T	A	18: 37,582,692 (GRCm39)	N599K	probably damaging	Het
Pcdhb18	C	A	18: 37,623,700 (GRCm39)	N343K	probably damaging	Het
Phf7	C	A	14: 30,971,613 (GRCm39)		probably benign	Het
Pramel15	C	T	4: 144,099,397 (GRCm39)	C456Y	probably damaging	Het
Qdpr	T	C	5: 45,604,982 (GRCm39)	N42S	probably damaging	Het
Rbm44	T	A	1: 91,090,136 (GRCm39)	D716E	probably benign	Het
Rprd2	A	C	3: 95,671,367 (GRCm39)	H1345Q	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr2	G	A	13: 11,814,768 (GRCm39)	A668V	probably damaging	Het
Sag	T	A	1: 87,759,683 (GRCm39)	L307Q	probably damaging	Het
Sash1	G	A	10: 8,603,734 (GRCm39)	P1106L	probably damaging	Het
Sec16b	T	A	1: 157,382,409 (GRCm39)	I615N	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slco1b2	T	C	6: 141,628,993 (GRCm39)	V600A	probably benign	Het
Sucnr1	A	G	3: 59,994,263 (GRCm39)	T264A	probably benign	Het
Tbx3	A	G	5: 119,809,983 (GRCm39)		probably benign	Het
Tigd5	T	C	15: 75,783,069 (GRCm39)	V477A	possibly damaging	Het
Tle7	T	A	8: 110,836,763 (GRCm39)	S216R	possibly damaging	Het
Ttc17	G	A	2: 94,192,764 (GRCm39)	A89V	probably damaging	Het
Twsg1	A	G	17: 66,255,657 (GRCm39)	I39T		Het
Zfp184	T	C	13: 22,143,512 (GRCm39)	F406S	probably damaging	Het
Zfp429	A	T	13: 67,538,830 (GRCm39)	C205S	probably damaging	Het
Zfp59	T	A	7: 27,554,313 (GRCm39)	D588E	probably benign	Het
Zfp64	A	T	2: 168,797,083 (GRCm39)	M1K	probably null	Het

Other mutations in Gnat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03011:Gnat2	APN	3	108,007,368 (GRCm39)	missense	probably damaging	1.00
R0281:Gnat2	UTSW	3	108,002,878 (GRCm39)	nonsense	probably null
R2422:Gnat2	UTSW	3	108,002,855 (GRCm39)	missense	probably damaging	1.00
R4832:Gnat2	UTSW	3	108,007,964 (GRCm39)	missense	probably benign	0.00
R4844:Gnat2	UTSW	3	108,002,831 (GRCm39)	missense	probably damaging	1.00
R4940:Gnat2	UTSW	3	108,007,932 (GRCm39)	missense	probably benign
R5430:Gnat2	UTSW	3	108,005,716 (GRCm39)	missense	probably damaging	1.00
R6109:Gnat2	UTSW	3	108,007,451 (GRCm39)	missense	probably damaging	1.00
R6870:Gnat2	UTSW	3	108,002,947 (GRCm39)	intron	probably benign
R9633:Gnat2	UTSW	3	108,002,770 (GRCm39)	missense	probably benign	0.00
RF018:Gnat2	UTSW	3	108,003,645 (GRCm39)	missense	unknown
Z1177:Gnat2	UTSW	3	108,007,360 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CACAGCATGTTTTCTCGGCC -3'
(R):5'- AGTTGGGGCAGTGACATGAC -3'

Sequencing Primer
(F):5'- AGCATGTTTTCTCGGCCATAGC -3'
(R):5'- GCAGTGACATGACGAGGTTTG -3'

Posted On

2021-08-02