Mutagenetix > Incidental Mutation

Incidental Mutation 'R0099:Rgs17'

33155

Institutional Source

Beutler Lab

Gene Symbol

Rgs17

Ensembl Gene

ENSMUSG00000019775

Gene Name

regulator of G-protein signaling 17

Synonyms

6430507P11Rik, RGSZ2

MMRRC Submission

038385-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R0099 (G1)

Quality Score

165

Status

Validated (trace)

Chromosome

Chromosomal Location

5775663-5872400 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5792583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 74 (R74S)

Ref Sequence

ENSEMBL: ENSMUSP00000065825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019909] [ENSMUST00000064225] [ENSMUST00000117676] [ENSMUST00000131996]

AlphaFold

Q9QZB0

Predicted Effect

probably benign
Transcript: ENSMUST00000019909
AA Change: R54S

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000019909
Gene: ENSMUSG00000019775
AA Change: R54S

Domain	Start	End	E-Value	Type
low complexity region	28	40	N/A	INTRINSIC
RGS	84	163	7.96e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000064225
AA Change: R74S

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000065825
Gene: ENSMUSG00000019775
AA Change: R74S

Domain	Start	End	E-Value	Type
low complexity region	48	60	N/A	INTRINSIC
RGS	104	220	4.54e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117676
AA Change: R54S

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113519
Gene: ENSMUSG00000019775
AA Change: R54S

Domain	Start	End	E-Value	Type
low complexity region	28	40	N/A	INTRINSIC
RGS	84	200	4.54e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131996
AA Change: R54S

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116291
Gene: ENSMUSG00000019775
AA Change: R54S

Domain	Start	End	E-Value	Type
low complexity region	28	40	N/A	INTRINSIC
RGS	84	200	4.54e-49	SMART

Meta Mutation Damage Score

0.0862

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018M24Rik	C	T	14: 51,134,179 (GRCm39)		probably benign	Het
Aadacl2fm1	A	C	3: 59,843,856 (GRCm39)	K183N	probably benign	Het
Acad10	A	C	5: 121,759,353 (GRCm39)	D1043E	probably damaging	Het
Adamtsl4	C	T	3: 95,591,449 (GRCm39)	G173R	probably benign	Het
Astn1	G	T	1: 158,329,721 (GRCm39)	S192I	probably damaging	Het
Atg2a	T	A	19: 6,302,819 (GRCm39)	V1010E	probably damaging	Het
Col11a2	A	G	17: 34,268,648 (GRCm39)	E311G	probably damaging	Het
Col4a3	A	C	1: 82,695,714 (GRCm39)	E1638A	probably benign	Het
Cstf2t	A	G	19: 31,061,231 (GRCm39)	R256G	probably benign	Het
Cyp4a12a	T	C	4: 115,183,869 (GRCm39)	L225P	probably damaging	Het
Dnah5	G	A	15: 28,240,080 (GRCm39)	R479H	probably damaging	Het
Dsg3	A	G	18: 20,673,079 (GRCm39)	I917V	probably benign	Het
Fam76a	G	T	4: 132,638,098 (GRCm39)		probably benign	Het
Fras1	T	A	5: 96,762,776 (GRCm39)		probably null	Het
Gli1	A	G	10: 127,171,875 (GRCm39)	V293A	probably damaging	Het
Gm10782	T	A	13: 56,510,956 (GRCm39)		noncoding transcript	Het
Greb1l	A	G	18: 10,509,158 (GRCm39)	E490G	probably damaging	Het
Hydin	G	A	8: 111,316,193 (GRCm39)	G4362R	probably damaging	Het
Ica1	A	T	6: 8,749,778 (GRCm39)		probably benign	Het
Ikzf4	T	A	10: 128,470,066 (GRCm39)	I485F	probably damaging	Het
Irf5	A	G	6: 29,533,966 (GRCm39)	T34A	probably damaging	Het
Krt81	A	T	15: 101,361,402 (GRCm39)	C59*	probably null	Het
Kynu	T	A	2: 43,519,065 (GRCm39)		probably null	Het
Ly6g6c	T	C	17: 35,287,891 (GRCm39)	V61A	probably damaging	Het
Manea	A	C	4: 26,328,104 (GRCm39)	I312M	probably damaging	Het
Micall1	G	T	15: 79,016,101 (GRCm39)		probably benign	Het
Mthfs	A	T	9: 89,108,216 (GRCm39)		probably benign	Het
Myh4	A	G	11: 67,150,173 (GRCm39)	T1877A	probably benign	Het
Myo3a	T	C	2: 22,250,409 (GRCm39)	I92T	probably benign	Het
Nepn	A	G	10: 52,277,181 (GRCm39)	S306G	probably damaging	Het
Nol8	T	C	13: 49,826,165 (GRCm39)	V995A	probably benign	Het
Or5b101	A	G	19: 13,005,165 (GRCm39)	F176S	probably damaging	Het
Or5b105	T	A	19: 13,080,504 (GRCm39)	T49S	probably benign	Het
Or8a1b	A	T	9: 37,622,750 (GRCm39)	V275E	probably damaging	Het
Or8g4	A	G	9: 39,661,957 (GRCm39)	I92V	possibly damaging	Het
Pde1a	T	A	2: 79,698,657 (GRCm39)		probably null	Het
Phf14	A	G	6: 11,987,696 (GRCm39)		probably benign	Het
Plekhh2	C	T	17: 84,899,100 (GRCm39)	Q1026*	probably null	Het
Polr2b	T	A	5: 77,468,797 (GRCm39)		probably benign	Het
Ppp1r36	G	T	12: 76,483,056 (GRCm39)		probably null	Het
Prdm14	A	T	1: 13,189,169 (GRCm39)	C392S	probably damaging	Het
Rabgap1l	A	G	1: 160,509,686 (GRCm39)	S436P	possibly damaging	Het
Rfc2	A	T	5: 134,624,135 (GRCm39)		probably null	Het
Rfx4	A	T	10: 84,730,168 (GRCm39)	M437L	probably benign	Het
Rnf139	C	A	15: 58,771,264 (GRCm39)	L430I	probably damaging	Het
Sgsm1	C	A	5: 113,422,226 (GRCm39)		probably benign	Het
Skint6	T	A	4: 112,668,698 (GRCm39)	T1126S	possibly damaging	Het
Slc15a2	T	C	16: 36,573,398 (GRCm39)	E602G	probably damaging	Het
Stpg2	T	C	3: 138,948,954 (GRCm39)		probably benign	Het
Sycp2l	T	C	13: 41,283,001 (GRCm39)		probably benign	Het
Tlr11	A	T	14: 50,598,275 (GRCm39)	N87I	probably benign	Het
Tril	A	G	6: 53,795,348 (GRCm39)	F625L	probably damaging	Het
Ube3c	T	A	5: 29,812,062 (GRCm39)	V434E	probably damaging	Het
Usp34	G	A	11: 23,313,111 (GRCm39)	G533R	probably damaging	Het
Utp25	A	G	1: 192,810,778 (GRCm39)	L75P	probably damaging	Het
Zfp93	G	T	7: 23,974,900 (GRCm39)	R295L	probably benign	Het

Other mutations in Rgs17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Rgs17	APN	10	5,862,624 (GRCm38)	missense	possibly damaging	0.80
R1564:Rgs17	UTSW	10	5,792,567 (GRCm39)	nonsense	probably null
R2424:Rgs17	UTSW	10	5,792,560 (GRCm39)	missense	probably benign	0.33
R2424:Rgs17	UTSW	10	5,783,111 (GRCm39)	missense	probably damaging	1.00
R4519:Rgs17	UTSW	10	5,868,192 (GRCm39)	missense	probably benign	0.00
R4585:Rgs17	UTSW	10	5,792,596 (GRCm39)	missense	probably benign	0.00
R5738:Rgs17	UTSW	10	5,783,140 (GRCm39)	missense	probably damaging	1.00
R6744:Rgs17	UTSW	10	5,792,567 (GRCm39)	missense	possibly damaging	0.55
R7625:Rgs17	UTSW	10	5,791,488 (GRCm39)	missense	probably benign
R7816:Rgs17	UTSW	10	5,791,501 (GRCm39)	missense	probably benign
R7937:Rgs17	UTSW	10	5,783,078 (GRCm39)	missense	probably benign	0.02
R8302:Rgs17	UTSW	10	5,812,525 (GRCm39)	missense	possibly damaging	0.79
R8699:Rgs17	UTSW	10	5,868,194 (GRCm39)	missense	probably benign	0.26
R9509:Rgs17	UTSW	10	5,812,576 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTCACAGAACCGTTTGCGAGAG -3'
(R):5'- TGGAGTCAGAGTAGACAGCGATATCC -3'

Sequencing Primer
(F):5'- GGCCCATAGAGATGATGCTTG -3'
(R):5'- TGGTATAGACTTACTAACTCTCACTC -3'

Posted On

2013-05-09