Mutagenetix > Incidental Mutation

Incidental Mutation 'R6230:Rgs22'

504638

Institutional Source

Beutler Lab

Gene Symbol

Rgs22

Ensembl Gene

ENSMUSG00000037627

Gene Name

regulator of G-protein signalling 22

Synonyms

MMRRC Submission

044359-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6230 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36009625-36140546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36100176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 304 (S304P)

Ref Sequence

ENSEMBL: ENSMUSP00000134259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172831] [ENSMUST00000174881]

AlphaFold

G3UYX5

Predicted Effect

probably benign
Transcript: ENSMUST00000172831
AA Change: S304P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: S304P

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
low complexity region	62	76	N/A	INTRINSIC
low complexity region	173	179	N/A	INTRINSIC
low complexity region	376	391	N/A	INTRINSIC
RGS	845	973	3.15e-2	SMART
RGS	1014	1134	1.56e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174881
AA Change: S180P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: S180P

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
low complexity region	252	267	N/A	INTRINSIC
RGS	721	849	3.15e-2	SMART
RGS	890	1010	1.56e-15	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.1%

Validation Efficiency

100% (49/49)

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	T	C	2: 168,024,452 (GRCm39)	T948A	probably benign	Het
Arhgef12	T	C	9: 42,900,261 (GRCm39)	I871V	probably benign	Het
Atf1	T	C	15: 100,130,705 (GRCm39)	V25A	possibly damaging	Het
Atp23	G	A	10: 126,723,431 (GRCm39)	H224Y	probably benign	Het
Ccpg1	A	G	9: 72,919,638 (GRCm39)	T418A	probably benign	Het
Col27a1	T	C	4: 63,142,519 (GRCm39)	I69T	probably damaging	Het
Cspp1	T	C	1: 10,147,422 (GRCm39)	S328P	probably benign	Het
Cttnbp2nl	C	T	3: 104,918,655 (GRCm39)	E62K	probably damaging	Het
Cyp2c39	T	C	19: 39,525,246 (GRCm39)	F183S	probably damaging	Het
Dync2li1	T	C	17: 84,955,078 (GRCm39)	S246P	probably damaging	Het
Ext2	A	G	2: 93,592,965 (GRCm39)	I413T	probably damaging	Het
Fam174a	T	C	1: 95,241,951 (GRCm39)	V137A	probably damaging	Het
Flg	T	A	3: 93,186,782 (GRCm39)	V78E	probably damaging	Het
Fn3krp	C	A	11: 121,316,418 (GRCm39)	H111N	probably damaging	Het
Focad	T	C	4: 88,260,441 (GRCm39)	I899T	unknown	Het
Foxq1	T	C	13: 31,743,491 (GRCm39)	Y198H	probably damaging	Het
Gm21060	A	T	19: 61,285,449 (GRCm39)	M20K	probably benign	Het
Kif16b	A	T	2: 142,691,832 (GRCm39)	N217K	probably damaging	Het
Klkb1	A	G	8: 45,736,252 (GRCm39)	Y162H	probably benign	Het
Kntc1	T	A	5: 123,927,072 (GRCm39)		probably null	Het
Madd	C	T	2: 90,973,866 (GRCm39)		probably null	Het
Mast2	T	A	4: 116,183,295 (GRCm39)	H258L	probably damaging	Het
Musk	T	C	4: 58,367,576 (GRCm39)	V598A	probably damaging	Het
Nexn	T	A	3: 151,943,912 (GRCm39)	Q539L	probably damaging	Het
Nf2	T	C	11: 4,758,262 (GRCm39)	K130E	possibly damaging	Het
Nlrp14	A	T	7: 106,781,024 (GRCm39)	I74F	probably benign	Het
Omg	T	C	11: 79,393,784 (GRCm39)	I25V	probably benign	Het
Or56b35	A	G	7: 104,963,289 (GRCm39)	H26R	possibly damaging	Het
Or8b54	T	G	9: 38,687,073 (GRCm39)	I174S	possibly damaging	Het
Parp4	A	G	14: 56,844,990 (GRCm39)	D627G	probably damaging	Het
Pdia6	A	G	12: 17,327,214 (GRCm39)	E126G	probably benign	Het
Ppp1r2	T	A	16: 31,079,418 (GRCm39)	D127V	possibly damaging	Het
Pramel17	T	A	4: 101,694,411 (GRCm39)	E157D	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Ryr2	T	C	13: 11,674,993 (GRCm39)	Y3378C	probably damaging	Het
Shoc1	T	C	4: 59,099,345 (GRCm39)	N116D	probably benign	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,917,248 (GRCm39)		probably benign	Het
Smurf2	T	C	11: 106,759,330 (GRCm39)		probably null	Het
Tanc1	T	C	2: 59,672,375 (GRCm39)	F1348L	probably damaging	Het
Tars3	A	T	7: 65,336,184 (GRCm39)		probably null	Het
Tmem213	A	T	6: 38,091,551 (GRCm39)	S52C	probably damaging	Het
Ttn	T	C	2: 76,749,778 (GRCm39)	D3757G	probably benign	Het
Usp16	C	T	16: 87,261,686 (GRCm39)	P101S	possibly damaging	Het
Usp19	G	A	9: 108,379,140 (GRCm39)	M1318I	probably damaging	Het
Vmn1r75	G	A	7: 11,614,966 (GRCm39)	A233T	probably damaging	Het
Vsir	A	T	10: 60,193,857 (GRCm39)	N107Y	probably damaging	Het
Zfp160	T	C	17: 21,246,707 (GRCm39)	V419A	probably benign	Het
Zfp808	A	T	13: 62,320,136 (GRCm39)	H455L	probably benign	Het

Other mutations in Rgs22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Rgs22	APN	15	36,100,077 (GRCm39)	missense	possibly damaging	0.93
IGL00594:Rgs22	APN	15	36,083,777 (GRCm39)	missense	probably benign	0.00
IGL01464:Rgs22	APN	15	36,083,787 (GRCm39)	missense	possibly damaging	0.90
IGL01686:Rgs22	APN	15	36,103,981 (GRCm39)	missense	probably benign	0.00
IGL01761:Rgs22	APN	15	36,103,897 (GRCm39)	missense	probably damaging	0.99
IGL02045:Rgs22	APN	15	36,013,300 (GRCm39)	missense	probably benign	0.33
IGL02378:Rgs22	APN	15	36,103,951 (GRCm39)	missense	probably benign	0.00
IGL02490:Rgs22	APN	15	36,054,993 (GRCm39)	missense	probably damaging	1.00
IGL03219:Rgs22	APN	15	36,107,194 (GRCm39)	missense	probably damaging	1.00
IGL03229:Rgs22	APN	15	36,015,925 (GRCm39)	splice site	probably benign
IGL03328:Rgs22	APN	15	36,043,350 (GRCm39)	critical splice donor site	probably null
3-1:Rgs22	UTSW	15	36,100,182 (GRCm39)	missense	possibly damaging	0.48
R0254:Rgs22	UTSW	15	36,104,698 (GRCm39)	missense	probably damaging	0.99
R0463:Rgs22	UTSW	15	36,093,084 (GRCm39)	missense	probably damaging	1.00
R0467:Rgs22	UTSW	15	36,099,941 (GRCm39)	nonsense	probably null
R0486:Rgs22	UTSW	15	36,093,028 (GRCm39)	missense	probably damaging	0.98
R0554:Rgs22	UTSW	15	36,054,855 (GRCm39)	missense	probably benign	0.10
R0602:Rgs22	UTSW	15	36,140,018 (GRCm39)	splice site	probably benign
R0906:Rgs22	UTSW	15	36,104,048 (GRCm39)	intron	probably benign
R1159:Rgs22	UTSW	15	36,040,839 (GRCm39)	missense	probably damaging	1.00
R1300:Rgs22	UTSW	15	36,101,908 (GRCm39)	missense	probably benign	0.43
R1439:Rgs22	UTSW	15	36,025,939 (GRCm39)	splice site	probably benign
R1491:Rgs22	UTSW	15	36,093,047 (GRCm39)	missense	probably damaging	0.98
R1502:Rgs22	UTSW	15	36,080,997 (GRCm39)	missense	probably damaging	1.00
R1514:Rgs22	UTSW	15	36,013,246 (GRCm39)	missense	probably benign	0.00
R1538:Rgs22	UTSW	15	36,048,922 (GRCm39)	missense	probably damaging	1.00
R1784:Rgs22	UTSW	15	36,087,582 (GRCm39)	missense	probably damaging	1.00
R1938:Rgs22	UTSW	15	36,101,950 (GRCm39)	missense	probably benign	0.00
R1972:Rgs22	UTSW	15	36,103,982 (GRCm39)	missense	probably benign	0.01
R2109:Rgs22	UTSW	15	36,099,880 (GRCm39)	nonsense	probably null
R2208:Rgs22	UTSW	15	36,050,378 (GRCm39)	missense	probably benign	0.01
R3696:Rgs22	UTSW	15	36,100,038 (GRCm39)	missense	probably benign	0.00
R3697:Rgs22	UTSW	15	36,100,038 (GRCm39)	missense	probably benign	0.00
R3698:Rgs22	UTSW	15	36,100,038 (GRCm39)	missense	probably benign	0.00
R3879:Rgs22	UTSW	15	36,107,051 (GRCm39)	missense	possibly damaging	0.52
R4080:Rgs22	UTSW	15	36,107,222 (GRCm39)	missense	probably damaging	1.00
R4363:Rgs22	UTSW	15	36,104,020 (GRCm39)	missense	probably damaging	0.99
R4591:Rgs22	UTSW	15	36,100,282 (GRCm39)	missense	probably benign	0.01
R4673:Rgs22	UTSW	15	36,100,079 (GRCm39)	missense	probably benign	0.04
R4829:Rgs22	UTSW	15	36,104,034 (GRCm39)	missense	probably damaging	1.00
R4831:Rgs22	UTSW	15	36,050,294 (GRCm39)	missense	probably benign	0.00
R4865:Rgs22	UTSW	15	36,100,358 (GRCm39)	missense	probably damaging	1.00
R4907:Rgs22	UTSW	15	36,087,570 (GRCm39)	missense	possibly damaging	0.61
R4944:Rgs22	UTSW	15	36,026,088 (GRCm39)	missense	possibly damaging	0.83
R4975:Rgs22	UTSW	15	36,055,022 (GRCm39)	nonsense	probably null
R5056:Rgs22	UTSW	15	36,050,391 (GRCm39)	splice site	probably null
R5126:Rgs22	UTSW	15	36,040,790 (GRCm39)	missense	probably damaging	0.96
R5138:Rgs22	UTSW	15	36,099,934 (GRCm39)	missense	probably benign	0.04
R5444:Rgs22	UTSW	15	36,015,773 (GRCm39)	missense	possibly damaging	0.83
R5507:Rgs22	UTSW	15	36,099,798 (GRCm39)	missense	probably damaging	0.99
R5640:Rgs22	UTSW	15	36,107,101 (GRCm39)	missense	probably benign	0.00
R5969:Rgs22	UTSW	15	36,015,782 (GRCm39)	missense	probably benign	0.00
R6005:Rgs22	UTSW	15	36,010,713 (GRCm39)	missense	probably benign	0.39
R6053:Rgs22	UTSW	15	36,100,153 (GRCm39)	missense	probably benign	0.04
R6134:Rgs22	UTSW	15	36,107,194 (GRCm39)	missense	probably damaging	1.00
R6295:Rgs22	UTSW	15	36,087,520 (GRCm39)	missense	probably benign	0.00
R6352:Rgs22	UTSW	15	36,093,067 (GRCm39)	missense	probably damaging	1.00
R6809:Rgs22	UTSW	15	36,048,910 (GRCm39)	missense	probably damaging	1.00
R6900:Rgs22	UTSW	15	36,010,893 (GRCm39)	missense	possibly damaging	0.61
R6947:Rgs22	UTSW	15	36,104,036 (GRCm39)	critical splice acceptor site	probably null
R7102:Rgs22	UTSW	15	36,122,459 (GRCm39)	missense	probably damaging	1.00
R7126:Rgs22	UTSW	15	36,103,954 (GRCm39)	missense	probably damaging	0.97
R7263:Rgs22	UTSW	15	36,015,789 (GRCm39)	missense	possibly damaging	0.86
R7623:Rgs22	UTSW	15	36,040,856 (GRCm39)	missense	probably benign	0.08
R7732:Rgs22	UTSW	15	36,026,127 (GRCm39)	missense	probably damaging	1.00
R7748:Rgs22	UTSW	15	36,122,415 (GRCm39)	critical splice donor site	probably null
R7771:Rgs22	UTSW	15	36,050,224 (GRCm39)	missense	possibly damaging	0.94
R7835:Rgs22	UTSW	15	36,082,057 (GRCm39)	critical splice donor site	probably null
R7849:Rgs22	UTSW	15	36,099,858 (GRCm39)	missense	probably damaging	1.00
R7954:Rgs22	UTSW	15	36,082,148 (GRCm39)	missense	possibly damaging	0.75
R8384:Rgs22	UTSW	15	36,046,158 (GRCm39)	critical splice donor site	probably null
R8516:Rgs22	UTSW	15	36,010,481 (GRCm39)	makesense	probably null
R8904:Rgs22	UTSW	15	36,026,127 (GRCm39)	missense	probably damaging	1.00
R8923:Rgs22	UTSW	15	36,093,106 (GRCm39)	missense	probably damaging	1.00
R9287:Rgs22	UTSW	15	36,098,409 (GRCm39)	missense	probably damaging	1.00
R9324:Rgs22	UTSW	15	36,087,544 (GRCm39)	missense	probably benign
R9660:Rgs22	UTSW	15	36,040,856 (GRCm39)	missense	probably benign	0.08
R9679:Rgs22	UTSW	15	36,087,587 (GRCm39)	missense	probably benign	0.00
R9728:Rgs22	UTSW	15	36,040,856 (GRCm39)	missense	probably benign	0.08
RF035:Rgs22	UTSW	15	36,010,981 (GRCm39)	critical splice acceptor site	probably benign
RF043:Rgs22	UTSW	15	36,010,982 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGTGAAACTATAGCCTTGTTGC -3'
(R):5'- CCTCTCTGATGCTGGATGAG -3'

Sequencing Primer
(F):5'- CTAGGCACAGGCGGGACTTTATC -3'
(R):5'- GGATGAGCTCATGTTTGTATCTAACC -3'

Posted On

2018-02-28