Mutagenetix > Incidental Mutation

Incidental Mutation 'R9193:Rgs20'

697778

Institutional Source

Beutler Lab

Gene Symbol

Rgs20

Ensembl Gene

ENSMUSG00000002459

Gene Name

regulator of G-protein signaling 20

Synonyms

Rgsz1, 2900073E09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4979799-5140508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5091067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 121 (M121K)

Ref Sequence

ENSEMBL: ENSMUSP00000113398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002533] [ENSMUST00000118000] [ENSMUST00000119256] [ENSMUST00000147158] [ENSMUST00000170566]

AlphaFold

Q9QZB1

Predicted Effect

probably benign
Transcript: ENSMUST00000002533

SMART Domains

Protein: ENSMUSP00000002533
Gene: ENSMUSG00000002459

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
low complexity region	59	71	N/A	INTRINSIC
RGS	113	229	2.09e-48	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118000
AA Change: M121K

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113398
Gene: ENSMUSG00000002459
AA Change: M121K

Domain	Start	End	E-Value	Type
low complexity region	123	135	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	192	204	N/A	INTRINSIC
RGS	246	362	2.09e-48	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119256

SMART Domains

Protein: ENSMUSP00000113324
Gene: ENSMUSG00000002459

Domain	Start	End	E-Value	Type
low complexity region	28	40	N/A	INTRINSIC
RGS	82	198	2.09e-48	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147158

SMART Domains

Protein: ENSMUSP00000117380
Gene: ENSMUSG00000002459

Domain	Start	End	E-Value	Type
low complexity region	92	104	N/A	INTRINSIC
Pfam:RGS	146	200	2.8e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170566

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of regulator of G protein signaling (RGS) proteins, which are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins inhibit signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound forms. This protein selectively binds to G(z)-alpha and G(alpha)-i2 subunits, and regulates their signaling activities. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,520,391 (GRCm39)	K79M	probably benign	Het
Amy1	T	C	3: 113,356,278 (GRCm39)	K293E	probably benign	Het
Bcl2l10	A	G	9: 75,255,333 (GRCm39)	Q50R	probably benign	Het
Bpifa6	G	A	2: 153,826,740 (GRCm39)	G35D	probably benign	Het
Cachd1	C	A	4: 100,634,339 (GRCm39)	P5Q	unknown	Het
Capn13	A	T	17: 73,652,191 (GRCm39)	I266N	probably damaging	Het
Chil3	A	G	3: 106,063,081 (GRCm39)	S170P	possibly damaging	Het
Ckap4	A	G	10: 84,363,350 (GRCm39)	I571T	probably damaging	Het
Col14a1	A	G	15: 55,242,964 (GRCm39)	M371V	unknown	Het
Dag1	A	G	9: 108,085,467 (GRCm39)	L558P	possibly damaging	Het
Edem3	G	A	1: 151,694,270 (GRCm39)	E868K	probably benign	Het
Eif3k	T	C	7: 28,673,624 (GRCm39)	Y150C	probably damaging	Het
Farp1	T	C	14: 121,518,281 (GRCm39)	I988T	probably benign	Het
Fat3	A	G	9: 15,910,248 (GRCm39)	M1918T	probably benign	Het
Gba2	A	G	4: 43,578,112 (GRCm39)	I79T	probably benign	Het
Gbp8	T	C	5: 105,179,169 (GRCm39)	D110G	probably damaging	Het
Gm57858	G	T	3: 36,089,428 (GRCm39)	N165K	probably benign	Het
H2-M2	T	A	17: 37,793,428 (GRCm39)	M193L	probably benign	Het
H2-T13	A	G	17: 36,391,956 (GRCm39)	V39A	possibly damaging	Het
Ighv7-1	T	A	12: 113,860,110 (GRCm39)	D94V	probably damaging	Het
Il2ra	T	C	2: 11,689,202 (GRCm39)	F244L	possibly damaging	Het
Jag1	A	T	2: 136,931,764 (GRCm39)	H602Q	probably null	Het
Kidins220	A	T	12: 25,036,966 (GRCm39)	I16F	possibly damaging	Het
Klb	A	G	5: 65,529,368 (GRCm39)	T299A	possibly damaging	Het
Lama4	A	G	10: 38,951,444 (GRCm39)	K1063R	probably benign	Het
Lrit2	A	G	14: 36,794,550 (GRCm39)	E538G	possibly damaging	Het
Lrrc7	A	T	3: 158,059,011 (GRCm39)	L32*	probably null	Het
Lrrtm3	A	T	10: 63,765,883 (GRCm39)	I568N	probably damaging	Het
Myom1	A	G	17: 71,343,295 (GRCm39)	D164G	probably damaging	Het
Naaladl2	T	C	3: 23,900,742 (GRCm39)	D696G	probably damaging	Het
Nalcn	A	T	14: 123,545,792 (GRCm39)	L1073*	probably null	Het
Nid2	T	C	14: 19,853,278 (GRCm39)	S1166P	probably damaging	Het
Nlrp4c	T	C	7: 6,095,621 (GRCm39)	V833A	probably benign	Het
Nyap2	T	C	1: 81,275,712 (GRCm39)	S619P	probably damaging	Het
Or10d5j	T	C	9: 39,867,878 (GRCm39)	M118V	probably damaging	Het
Or2a20	A	T	6: 43,194,086 (GRCm39)	T80S	probably benign	Het
Or4a71	A	G	2: 89,357,987 (GRCm39)	Y256H	probably damaging	Het
Or8k16	C	A	2: 85,520,644 (GRCm39)	Y290*	probably null	Het
P3h2	T	C	16: 25,923,991 (GRCm39)	N148S	probably benign	Het
P4htm	A	G	9: 108,460,081 (GRCm39)	M231T	probably damaging	Het
Pank1	T	A	19: 34,804,634 (GRCm39)	K349I	possibly damaging	Het
Pgam5	A	G	5: 110,413,466 (GRCm39)	Y210H	probably benign	Het
Prb1b	T	C	6: 132,288,996 (GRCm39)	H276R	unknown	Het
Prl2a1	T	A	13: 27,992,535 (GRCm39)	C220S	probably damaging	Het
Psca	C	T	15: 74,587,932 (GRCm39)	Q39*	probably null	Het
S100z	C	T	13: 95,613,883 (GRCm39)	V76M	possibly damaging	Het
Slc30a10	T	C	1: 185,195,034 (GRCm39)	I282T	probably damaging	Het
Slc30a3	T	C	5: 31,246,088 (GRCm39)	Y214C	probably damaging	Het
Sox5	C	T	6: 143,790,570 (GRCm39)	E497K	probably benign	Het
Spata31g1	A	G	4: 42,971,519 (GRCm39)	D284G	probably benign	Het
Sptbn1	C	T	11: 30,087,551 (GRCm39)	E963K	possibly damaging	Het
Srl	T	C	16: 4,311,723 (GRCm39)	E465G	possibly damaging	Het
Tacc2	T	C	7: 130,228,304 (GRCm39)	M1663T	probably benign	Het
Tas2r119	T	G	15: 32,177,932 (GRCm39)	V166G	probably benign	Het
Tcf7l1	A	G	6: 72,611,205 (GRCm39)	V191A	probably damaging	Het
Thap7	A	T	16: 17,346,901 (GRCm39)	I92K	probably damaging	Het
Tnfsf10	A	G	3: 27,371,407 (GRCm39)	T38A	possibly damaging	Het
Trav7-5	C	G	14: 53,768,615 (GRCm39)	A61G	probably benign	Het
Trim30c	C	T	7: 104,031,553 (GRCm39)	V421I	probably benign	Het
Ugt2b38	A	T	5: 87,571,729 (GRCm39)	M101K	probably benign	Het
Vmn1r44	T	A	6: 89,870,565 (GRCm39)	C104S	probably damaging	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp735	A	T	11: 73,580,600 (GRCm39)	Y33F	possibly damaging	Het

Other mutations in Rgs20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Rgs20	APN	1	5,140,238 (GRCm39)	missense	probably benign	0.04
IGL01433:Rgs20	APN	1	5,140,300 (GRCm39)	missense	possibly damaging	0.85
IGL01691:Rgs20	APN	1	4,987,145 (GRCm39)	missense	probably benign	0.00
R0573:Rgs20	UTSW	1	5,091,037 (GRCm39)	missense	possibly damaging	0.85
R1274:Rgs20	UTSW	1	4,982,670 (GRCm39)	missense	probably damaging	1.00
R1305:Rgs20	UTSW	1	5,091,262 (GRCm39)	splice site	probably null
R1513:Rgs20	UTSW	1	4,982,560 (GRCm39)	missense	probably damaging	1.00
R1568:Rgs20	UTSW	1	5,091,050 (GRCm39)	missense	probably benign	0.00
R1763:Rgs20	UTSW	1	4,980,863 (GRCm39)	missense	probably damaging	1.00
R1794:Rgs20	UTSW	1	4,980,795 (GRCm39)	missense	probably damaging	1.00
R2118:Rgs20	UTSW	1	4,987,113 (GRCm39)	splice site	probably benign
R2437:Rgs20	UTSW	1	5,140,370 (GRCm39)	splice site	probably null
R3029:Rgs20	UTSW	1	5,140,276 (GRCm39)	missense	probably benign	0.00
R4665:Rgs20	UTSW	1	5,091,231 (GRCm39)	missense	probably benign	0.00
R5014:Rgs20	UTSW	1	4,980,770 (GRCm39)	missense	probably damaging	1.00
R5433:Rgs20	UTSW	1	5,140,333 (GRCm39)	missense	possibly damaging	0.93
R5620:Rgs20	UTSW	1	4,982,666 (GRCm39)	missense	probably damaging	1.00
R5880:Rgs20	UTSW	1	4,994,104 (GRCm39)	missense	probably damaging	0.99
R5990:Rgs20	UTSW	1	4,982,553 (GRCm39)	missense	probably benign	0.11
R6188:Rgs20	UTSW	1	5,091,106 (GRCm39)	frame shift	probably null
R7323:Rgs20	UTSW	1	4,982,535 (GRCm39)	critical splice donor site	probably null
R7459:Rgs20	UTSW	1	4,980,857 (GRCm39)	missense	probably benign	0.04
R7467:Rgs20	UTSW	1	4,982,553 (GRCm39)	missense	probably benign	0.11
R8101:Rgs20	UTSW	1	4,982,638 (GRCm39)	missense	probably benign	0.16
R9087:Rgs20	UTSW	1	4,994,190 (GRCm39)	missense	possibly damaging	0.88
R9443:Rgs20	UTSW	1	4,982,629 (GRCm39)	nonsense	probably null
R9725:Rgs20	UTSW	1	4,980,793 (GRCm39)	nonsense	probably null
Z1176:Rgs20	UTSW	1	5,140,337 (GRCm39)	missense	probably benign
Z1177:Rgs20	UTSW	1	5,091,242 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGGGTCAATCAGGATTAGAGCG -3'
(R):5'- GGTGACTGTGGACAAGATCG -3'

Sequencing Primer
(F):5'- TCAATCAGGATTAGAGCGAGTGG -3'
(R):5'- ACAAGATCGTACTGATGTGCTG -3'

Posted On

2022-02-07