Mutagenetix > Incidental Mutation

Incidental Mutation 'R5106:Rgs7'

392607

Institutional Source

Beutler Lab

Gene Symbol

Rgs7

Ensembl Gene

ENSMUSG00000026527

Gene Name

regulator of G protein signaling 7

Synonyms

MMRRC Submission

042694-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.672) question?

Stock #

R5106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

174886653-175320066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 174904416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 166 (S166P)

Ref Sequence

ENSEMBL: ENSMUSP00000142181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027812] [ENSMUST00000192203] [ENSMUST00000192227] [ENSMUST00000194288] [ENSMUST00000194555] [ENSMUST00000195324] [ENSMUST00000195477]

AlphaFold

O54829

Predicted Effect

probably benign
Transcript: ENSMUST00000027812

SMART Domains

Protein: ENSMUSP00000027812
Gene: ENSMUSG00000026527

Domain	Start	End	E-Value	Type
DEP	37	112	1.69e-26	SMART
G_gamma	252	316	4.56e-20	SMART
GGL	255	316	2.75e-27	SMART
RGS	333	448	9.08e-49	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192203
AA Change: S47P

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141284
Gene: ENSMUSG00000026527
AA Change: S47P

Domain	Start	End	E-Value	Type
Pfam:RGS	1	31	2.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192227

SMART Domains

Protein: ENSMUSP00000142278
Gene: ENSMUSG00000026527

Domain	Start	End	E-Value	Type
DEP	37	112	1.69e-26	SMART
G_gamma	252	316	4.56e-20	SMART
GGL	255	316	2.75e-27	SMART
RGS	333	448	9.08e-49	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193798

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194288
AA Change: S146P

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141855
Gene: ENSMUSG00000026527
AA Change: S146P

Domain	Start	End	E-Value	Type
RGS	16	131	9.08e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194555

SMART Domains

Protein: ENSMUSP00000142180
Gene: ENSMUSG00000026527

Domain	Start	End	E-Value	Type
DEP	37	112	1.69e-26	SMART
G_gamma	252	316	4.56e-20	SMART
GGL	255	316	2.75e-27	SMART
RGS	333	448	9.08e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195324

SMART Domains

Protein: ENSMUSP00000141380
Gene: ENSMUSG00000026527

Domain	Start	End	E-Value	Type
DEP	37	112	7.7e-29	SMART
G_gamma	252	316	2.1e-24	SMART
GGL	255	316	1.8e-29	SMART
RGS	333	448	3.4e-51	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195477
AA Change: S166P

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142181
Gene: ENSMUSG00000026527
AA Change: S166P

Domain	Start	End	E-Value	Type
RGS	36	151	9.08e-49	SMART

Meta Mutation Damage Score

0.1193

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (62/62)

MGI Phenotype

PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit reduced exploration in a new environment, impaired glucose tolerance in males, and abnormal rod b-wave electrophysiology. Mice homozygous for a knock-out allele exhibit runting, delayed eye opening, and transient prolonged b-wave implicit time. [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
C1qtnf2	G	A	11: 43,376,880 (GRCm39)	R84Q	possibly damaging	Het
Carmil2	T	A	8: 106,420,638 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,416,005 (GRCm39)	C107S	probably benign	Het
Cideb	T	C	14: 55,991,982 (GRCm39)	M191V	probably benign	Het
Cope	C	A	8: 70,763,097 (GRCm39)	R213S	possibly damaging	Het
Ctcf	T	C	8: 106,408,130 (GRCm39)		probably benign	Het
Daam2	T	C	17: 49,783,489 (GRCm39)	Y647C	probably damaging	Het
Dlg2	T	C	7: 92,091,894 (GRCm39)	Y920H	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fdps	C	A	3: 89,006,710 (GRCm39)	R127L	probably damaging	Het
G6pd2	C	T	5: 61,967,695 (GRCm39)	T490I	probably benign	Het
Gm6401	A	G	14: 41,787,463 (GRCm39)	M121T	probably damaging	Het
Gnl2	T	C	4: 124,947,329 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtf2a1l	A	G	17: 89,002,073 (GRCm39)	S310G	possibly damaging	Het
Igdcc4	T	C	9: 65,031,983 (GRCm39)	F500L	probably damaging	Het
Lgr4	A	T	2: 109,827,940 (GRCm39)	H207L	probably damaging	Het
Llcfc1	A	G	6: 41,662,310 (GRCm39)	M105V	probably benign	Het
Macroh2a1	A	G	13: 56,236,106 (GRCm39)	V213A	possibly damaging	Het
Map2k3	A	G	11: 60,832,708 (GRCm39)	K18E	probably damaging	Het
Mccc1	T	A	3: 36,026,713 (GRCm39)	D528V	probably benign	Het
Nedd4l	C	T	18: 65,326,376 (GRCm39)	T568M	probably damaging	Het
Nr3c1	A	C	18: 39,619,654 (GRCm39)	I211S	possibly damaging	Het
Nudt5	C	T	2: 5,859,640 (GRCm39)		probably benign	Het
Or2ag20	T	A	7: 106,464,595 (GRCm39)	M136K	probably damaging	Het
Or5d46	T	C	2: 88,170,454 (GRCm39)	Y182H	probably benign	Het
Or6c202	T	C	10: 128,996,106 (GRCm39)	Y249C	probably damaging	Het
Or9k2b	A	T	10: 130,016,177 (GRCm39)	S191T	probably benign	Het
Pcid2	A	T	8: 13,129,648 (GRCm39)	F326I	probably damaging	Het
Pcnt	A	T	10: 76,237,278 (GRCm39)	I1336N	probably damaging	Het
Pomk	T	C	8: 26,476,404 (GRCm39)	D50G	probably benign	Het
Ppp2r2a	T	C	14: 67,260,546 (GRCm39)	Y244C	probably damaging	Het
Ptprz1	A	G	6: 23,000,027 (GRCm39)	T706A	probably benign	Het
Rad54l	G	A	4: 115,956,961 (GRCm39)		probably benign	Het
Raph1	T	C	1: 60,572,459 (GRCm39)	D36G	probably damaging	Het
Rnf183	C	G	4: 62,346,465 (GRCm39)	R111P	probably damaging	Het
Rp1l1	A	T	14: 64,265,395 (GRCm39)	D327V	probably damaging	Het
Rpl3l	A	G	17: 24,951,411 (GRCm39)	Y156C	probably damaging	Het
Slc25a54	G	T	3: 109,020,180 (GRCm39)	C398F	probably benign	Het
Slc39a2	A	G	14: 52,132,988 (GRCm39)	*310W	probably null	Het
Slit3	T	C	11: 35,503,194 (GRCm39)	C464R	probably damaging	Het
Smu1	A	T	4: 40,743,104 (GRCm39)	F345I	possibly damaging	Het
Ssc5d	T	A	7: 4,939,664 (GRCm39)	V700E	probably benign	Het
Stxbp3	T	C	3: 108,702,243 (GRCm39)	Y521C	probably benign	Het
Tenm4	T	C	7: 96,492,356 (GRCm39)	S1061P	probably damaging	Het
Thoc5	T	C	11: 4,860,630 (GRCm39)	S103P	probably damaging	Het
Tmem221	A	G	8: 72,008,522 (GRCm39)	F173L	probably benign	Het
Trit1	T	C	4: 122,948,106 (GRCm39)		probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r106	T	C	17: 20,499,395 (GRCm39)		probably null	Het
Vmn2r38	C	A	7: 9,078,169 (GRCm39)	V738L	possibly damaging	Het
Zfp160	T	A	17: 21,247,023 (GRCm39)	H524Q	probably damaging	Het
Zfp791	T	A	8: 85,837,259 (GRCm39)	K202*	probably null	Het
Zfp985	T	A	4: 147,668,612 (GRCm39)	S493R	probably damaging	Het
Zkscan7	T	C	9: 122,725,198 (GRCm39)		probably benign	Het
Zwilch	A	C	9: 64,060,866 (GRCm39)	F329V	probably damaging	Het

Other mutations in Rgs7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01450:Rgs7	APN	1	174,913,746 (GRCm39)	missense	probably benign	0.04
IGL02334:Rgs7	APN	1	175,016,788 (GRCm39)	missense	probably damaging	0.96
IGL02805:Rgs7	APN	1	174,977,262 (GRCm39)	missense	probably damaging	1.00
IGL03169:Rgs7	APN	1	175,098,401 (GRCm39)	missense	possibly damaging	0.75
R0269:Rgs7	UTSW	1	175,098,386 (GRCm39)	missense	possibly damaging	0.81
R1161:Rgs7	UTSW	1	174,907,021 (GRCm39)	missense	probably damaging	1.00
R1658:Rgs7	UTSW	1	174,907,120 (GRCm39)	missense	probably benign	0.02
R1840:Rgs7	UTSW	1	174,980,714 (GRCm39)	missense	probably damaging	0.99
R1944:Rgs7	UTSW	1	174,980,769 (GRCm39)	missense	possibly damaging	0.88
R2064:Rgs7	UTSW	1	174,949,508 (GRCm39)	missense	probably damaging	0.98
R2114:Rgs7	UTSW	1	174,918,639 (GRCm39)	missense	probably damaging	1.00
R2116:Rgs7	UTSW	1	174,918,639 (GRCm39)	missense	probably damaging	1.00
R3803:Rgs7	UTSW	1	175,016,785 (GRCm39)	missense	probably benign	0.39
R6042:Rgs7	UTSW	1	174,977,226 (GRCm39)	missense	probably damaging	0.99
R7652:Rgs7	UTSW	1	174,921,396 (GRCm39)	missense	probably benign
R7689:Rgs7	UTSW	1	174,949,296 (GRCm39)	missense	probably benign	0.33
R7814:Rgs7	UTSW	1	174,903,635 (GRCm39)	missense	probably benign
R7884:Rgs7	UTSW	1	174,977,216 (GRCm39)	critical splice donor site	probably null
R8884:Rgs7	UTSW	1	174,980,730 (GRCm39)	missense	probably benign	0.06
Z1088:Rgs7	UTSW	1	174,911,586 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGCATGGCAGCTGTATTTCTAC -3'
(R):5'- CAACTTGGATTCAGTGATGAGACAC -3'

Sequencing Primer
(F):5'- GCAGCTGTATTTCTACTCTCTAAAGG -3'
(R):5'- GGCTTACCATCCTGTCTTTTTCTGTT -3'

Posted On

2016-06-15