Mutagenetix > Incidental Mutation

Incidental Mutation 'R5085:Rgs19'

387354

Institutional Source

Beutler Lab

Gene Symbol

Rgs19

Ensembl Gene

ENSMUSG00000002458

Gene Name

regulator of G-protein signaling 19

Synonyms

2610042F04Rik

MMRRC Submission

042674-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

181330212-181335770 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 181331336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 99 (T99M)

Ref Sequence

ENSEMBL: ENSMUSP00000129026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002532] [ENSMUST00000103042] [ENSMUST00000108769] [ENSMUST00000108771] [ENSMUST00000108772] [ENSMUST00000108776] [ENSMUST00000108778] [ENSMUST00000165416] [ENSMUST00000108779] [ENSMUST00000129745]

AlphaFold

Q9CX84

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002532
AA Change: T99M

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000002532
Gene: ENSMUSG00000002458
AA Change: T99M

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
RGS	90	206	2.73e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103042

SMART Domains

Protein: ENSMUSP00000099331
Gene: ENSMUSG00000059540

Domain	Start	End	E-Value	Type
TFS2N	7	81	2.51e-25	SMART
low complexity region	114	129	N/A	INTRINSIC
TFS2M	136	237	4.14e-51	SMART
ZnF_C2C2	259	298	7.37e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108769
AA Change: T99M

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

SMART Domains

Protein: ENSMUSP00000104400
Gene: ENSMUSG00000002458
AA Change: T99M

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
Pfam:RGS	90	160	4.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108771
AA Change: T77M

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104402
Gene: ENSMUSG00000002458
AA Change: T77M

Domain	Start	End	E-Value	Type
low complexity region	17	29	N/A	INTRINSIC
RGS	68	184	2.73e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108772
AA Change: T77M

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104403
Gene: ENSMUSG00000002458
AA Change: T77M

Domain	Start	End	E-Value	Type
low complexity region	17	29	N/A	INTRINSIC
RGS	68	184	2.73e-43	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108776
AA Change: T99M

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104406
Gene: ENSMUSG00000002458
AA Change: T99M

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
RGS	90	206	2.73e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108778
AA Change: T126M

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104408
Gene: ENSMUSG00000002458
AA Change: T126M

Domain	Start	End	E-Value	Type
low complexity region	66	78	N/A	INTRINSIC
RGS	117	233	2.73e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143510

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165416
AA Change: T99M

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129026
Gene: ENSMUSG00000002458
AA Change: T99M

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
RGS	90	206	2.73e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136145

Predicted Effect

probably benign
Transcript: ENSMUST00000108779

SMART Domains

Protein: ENSMUSP00000104409
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129006

SMART Domains

Protein: ENSMUSP00000120083
Gene: ENSMUSG00000059540

Domain	Start	End	E-Value	Type
Pfam:Med26	27	77	5.1e-17	PFAM
low complexity region	112	127	N/A	INTRINSIC
TFS2M	134	235	4.14e-51	SMART
ZnF_C2C2	257	296	7.37e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144476

SMART Domains

Protein: ENSMUSP00000120723
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
Pfam:RGS	1	49	3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129745

SMART Domains

Protein: ENSMUSP00000119646
Gene: ENSMUSG00000059540

Domain	Start	End	E-Value	Type
Pfam:Med26	21	73	2.1e-20	PFAM
low complexity region	107	122	N/A	INTRINSIC
TFS2M	129	230	4.14e-51	SMART
ZnF_C2C2	252	291	7.37e-18	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

92% (69/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,653,837 (GRCm39)	K129*	probably null	Het
Adamts6	A	T	13: 104,443,751 (GRCm39)	D162V	probably damaging	Het
Alms1	C	A	6: 85,597,714 (GRCm39)	P1316T	possibly damaging	Het
AU040320	A	T	4: 126,722,664 (GRCm39)	N394I	possibly damaging	Het
Cacng8	T	C	7: 3,464,096 (GRCm39)	L416P	possibly damaging	Het
Ccdc136	T	A	6: 29,419,313 (GRCm39)	N944K	probably damaging	Het
Clcn1	C	T	6: 42,290,814 (GRCm39)	T896I	probably benign	Het
Col16a1	A	T	4: 129,947,964 (GRCm39)	Y228F	probably damaging	Het
Cyfip1	A	G	7: 55,548,083 (GRCm39)	D561G	probably benign	Het
Ddr1	T	A	17: 35,993,667 (GRCm39)		probably null	Het
Dedd2	A	T	7: 24,918,411 (GRCm39)	L48Q	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dph3b-ps	A	G	13: 106,683,558 (GRCm39)		noncoding transcript	Het
Dppa3	T	C	6: 122,606,891 (GRCm39)	F127S	probably damaging	Het
Dpy19l4	C	T	4: 11,265,943 (GRCm39)		probably null	Het
Flrt3	T	C	2: 140,502,177 (GRCm39)	T484A	probably damaging	Het
Gldc	T	C	19: 30,128,936 (GRCm39)	E179G	probably damaging	Het
Gm14403	A	G	2: 177,200,282 (GRCm39)	E76G	probably benign	Het
Gm6421	G	A	13: 117,494,969 (GRCm39)		noncoding transcript	Het
Grk5	T	C	19: 61,065,122 (GRCm39)	V262A	probably damaging	Het
Grp	A	G	18: 66,013,230 (GRCm39)	Q132R	probably benign	Het
Hap1	A	G	11: 100,246,537 (GRCm39)	F123L	probably damaging	Het
Hrc	A	G	7: 44,986,445 (GRCm39)	D532G	probably damaging	Het
Igsf9b	C	A	9: 27,228,733 (GRCm39)	F164L	probably benign	Het
Irag1	G	T	7: 110,470,700 (GRCm39)	L672I	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kansl1	C	T	11: 104,315,168 (GRCm39)	R290Q	probably damaging	Het
Kifc2	T	A	15: 76,545,496 (GRCm39)	L81Q	probably damaging	Het
Klrc3	T	C	6: 129,616,538 (GRCm39)	R160G	probably damaging	Het
Mal	A	G	2: 127,482,193 (GRCm39)	M70T	probably benign	Het
Mep1a	T	G	17: 43,789,035 (GRCm39)	R580S	probably damaging	Het
Methig1	A	T	15: 100,251,130 (GRCm39)	I14F	probably damaging	Het
Mtf1	T	C	4: 124,715,101 (GRCm39)	L242P	probably damaging	Het
Nfkb1	C	A	3: 135,309,568 (GRCm39)	A509S	probably benign	Het
Or2h2b-ps1	C	G	17: 37,480,858 (GRCm39)	S227T	probably benign	Het
Or2n1b	G	A	17: 38,460,003 (GRCm39)	D175N	probably damaging	Het
Or5ac24	A	T	16: 59,165,449 (GRCm39)	I205K	probably damaging	Het
Or7a36	G	T	10: 78,819,928 (GRCm39)	M101I	probably benign	Het
Or8k23	A	T	2: 86,186,318 (GRCm39)	M136K	probably damaging	Het
Pabpc2	A	T	18: 39,907,635 (GRCm39)	N300I	probably damaging	Het
Peg10	C	T	6: 4,755,864 (GRCm39)		probably benign	Het
Ppp1r3a	T	A	6: 14,719,603 (GRCm39)	D437V	probably damaging	Het
Prickle1	A	G	15: 93,398,783 (GRCm39)	S682P	probably damaging	Het
Prkab2	T	C	3: 97,580,308 (GRCm39)		probably benign	Het
Pus3	T	A	9: 35,476,932 (GRCm39)	L243Q	possibly damaging	Het
Relch	A	G	1: 105,605,905 (GRCm39)	S182G	probably damaging	Het
Ripk2	A	G	4: 16,127,663 (GRCm39)	S360P	possibly damaging	Het
Rock1	A	G	18: 10,140,210 (GRCm39)	I127T	probably damaging	Het
Serpinb10	T	G	1: 107,469,947 (GRCm39)	M143R	probably damaging	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Skint6	T	A	4: 113,093,465 (GRCm39)	Q226L	probably damaging	Het
Slc6a19	T	C	13: 73,839,872 (GRCm39)	M137V	probably benign	Het
Supv3l1	A	T	10: 62,271,291 (GRCm39)	N415K	probably benign	Het
Tekt4	A	G	17: 25,692,749 (GRCm39)	R192G	probably damaging	Het
Trgv7	A	T	13: 19,362,598 (GRCm39)	K96*	probably null	Het
Tshz1	T	C	18: 84,032,053 (GRCm39)	N785S	probably benign	Het
Usb1	A	G	8: 96,070,679 (GRCm39)	T202A	probably damaging	Het
Utp18	A	T	11: 93,761,363 (GRCm39)	D348E	possibly damaging	Het
Vmn1r42	T	G	6: 89,821,598 (GRCm39)	I324L	probably benign	Het
Wnt8a	A	T	18: 34,678,656 (GRCm39)	R157*	probably null	Het
Ypel1	A	G	16: 16,902,472 (GRCm39)		probably null	Het
Zfp235	A	G	7: 23,836,546 (GRCm39)	K31E	probably damaging	Het
Zhx2	G	C	15: 57,686,089 (GRCm39)	W486S	probably damaging	Het

Other mutations in Rgs19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Rgs19	APN	2	181,331,246 (GRCm39)	missense	probably damaging	1.00
IGL01620:Rgs19	APN	2	181,331,381 (GRCm39)	missense	possibly damaging	0.72
IGL02096:Rgs19	APN	2	181,331,076 (GRCm39)	missense	probably damaging	1.00
IGL02529:Rgs19	APN	2	181,330,943 (GRCm39)	missense	probably benign	0.08
IGL03126:Rgs19	APN	2	181,333,114 (GRCm39)	missense	probably benign	0.00
IGL03235:Rgs19	APN	2	181,331,525 (GRCm39)	missense	probably benign	0.03
R1969:Rgs19	UTSW	2	181,331,276 (GRCm39)	missense	probably damaging	1.00
R6083:Rgs19	UTSW	2	181,331,300 (GRCm39)	missense	probably damaging	1.00
R6852:Rgs19	UTSW	2	181,330,941 (GRCm39)	missense	possibly damaging	0.71
R7251:Rgs19	UTSW	2	181,331,541 (GRCm39)	missense	probably benign	0.00
R7535:Rgs19	UTSW	2	181,333,101 (GRCm39)	missense	probably damaging	0.96
R8936:Rgs19	UTSW	2	181,333,058 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGATGCCTTCTCGCACACG -3'
(R):5'- CAGCTGTGAAGTCTGGTGAG -3'

Sequencing Primer
(F):5'- ACACGGGAGTCCAGGCTTAC -3'
(R):5'- AAGTCTGGTGAGTATGGCCACC -3'

Posted On

2016-06-06