Mutagenetix > Incidental Mutation

Incidental Mutation 'R6134:Rgs22'

487302

Institutional Source

Beutler Lab

Gene Symbol

Rgs22

Ensembl Gene

ENSMUSG00000037627

Gene Name

regulator of G-protein signalling 22

Synonyms

MMRRC Submission

044281-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6134 (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 36107194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 64 (L64P)

Ref Sequence

ENSEMBL: ENSMUSP00000134259 (fasta)

Gene Model

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

AlphaFold

G3UYX5

Predicted Effect

probably damaging
Transcript: ENSMUST00000172831
AA Change: L64P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: L64P

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 damaging
Transcript: ENSMUST00000174881
AA Change: L25P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: L25P

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

Meta Mutation Damage Score

0.3800

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

94% (51/54)

Allele List at MGI

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

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,767,619 (GRCm39)	E39K	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Aktip	T	A	8: 91,856,388 (GRCm39)	S30C	probably damaging	Het
Anxa10	G	T	8: 62,530,977 (GRCm39)	H78N	probably damaging	Het
Aoah	C	T	13: 21,095,293 (GRCm39)	R196W	probably damaging	Het
Arl4c	A	T	1: 88,629,152 (GRCm39)	W79R	probably damaging	Het
Brd2	A	T	17: 34,332,669 (GRCm39)	D178E	probably benign	Het
Cacna1e	G	A	1: 154,577,037 (GRCm39)	P120L	probably damaging	Het
Cdh16	A	T	8: 105,342,697 (GRCm39)	M17K	probably benign	Het
Cdhr17	A	T	5: 17,029,683 (GRCm39)	D473V	probably damaging	Het
Chit1	A	G	1: 134,071,798 (GRCm39)	T103A	possibly damaging	Het
Clcn3	T	C	8: 61,387,607 (GRCm39)	Y214C	probably damaging	Het
Coch	T	A	12: 51,649,536 (GRCm39)	D282E	probably damaging	Het
Col1a2	C	A	6: 4,538,035 (GRCm39)	S1181R	unknown	Het
Col6a2	T	C	10: 76,442,978 (GRCm39)	D506G	probably damaging	Het
Crx	A	T	7: 15,602,032 (GRCm39)	Y215*	probably null	Het
Fasn	A	T	11: 120,713,012 (GRCm39)	S58T	probably benign	Het
Fhip1a	T	C	3: 85,580,651 (GRCm39)	E518G	possibly damaging	Het
Garem1	A	T	18: 21,262,881 (GRCm39)	D644E	probably benign	Het
H2-Q2	A	C	17: 35,562,217 (GRCm39)	T155P	probably damaging	Het
Insr	A	T	8: 3,242,572 (GRCm39)	I49N	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lnpep	A	G	17: 17,773,454 (GRCm39)	M639T	probably benign	Het
Lypd11	G	A	7: 24,425,481 (GRCm39)	A3V	probably damaging	Het
Map3k20	C	T	2: 72,240,503 (GRCm39)	S333F	probably damaging	Het
Miga2	A	G	2: 30,261,229 (GRCm39)	S175G	probably benign	Het
Muc3a	A	T	5: 137,244,579 (GRCm39)	I191N	probably damaging	Het
Ncoa2	A	G	1: 13,244,595 (GRCm39)	V701A	probably damaging	Het
Nid2	T	C	14: 19,828,851 (GRCm39)	V565A	probably damaging	Het
Nova2	G	A	7: 18,691,794 (GRCm39)	A244T	unknown	Het
Numbl	G	C	7: 26,980,739 (GRCm39)	A574P	probably damaging	Het
Oas3	A	G	5: 120,907,113 (GRCm39)	V508A	unknown	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Pcdhb21	T	A	18: 37,647,461 (GRCm39)	S197T	probably benign	Het
Pck2	T	A	14: 55,781,419 (GRCm39)	M180K	probably damaging	Het
Pgr	T	C	9: 8,900,740 (GRCm39)	V91A	possibly damaging	Het
Phtf1	A	T	3: 103,911,721 (GRCm39)	M643L	probably damaging	Het
Prokr1	T	C	6: 87,565,837 (GRCm39)	T3A	possibly damaging	Het
Ptgs1	T	C	2: 36,141,190 (GRCm39)	Y546H	probably damaging	Het
Rasa1	A	G	13: 85,374,745 (GRCm39)	L742P	probably benign	Het
Rbbp6	T	C	7: 122,596,534 (GRCm39)		probably null	Het
Rnf213	A	T	11: 119,302,296 (GRCm39)	I407F	probably damaging	Het
Rp1l1	C	T	14: 64,267,545 (GRCm39)	P1044S	probably damaging	Het
Scin	G	A	12: 40,110,578 (GRCm39)	P690L	probably damaging	Het
Septin9	T	C	11: 117,242,987 (GRCm39)	L58P	probably damaging	Het
Slc1a7	A	G	4: 107,869,633 (GRCm39)	E566G	probably damaging	Het
Speer4f1	G	A	5: 17,681,140 (GRCm39)	R6Q	probably benign	Het
Tnxb	A	T	17: 34,890,986 (GRCm39)	Y443F	probably damaging	Het
Trpv1	A	G	11: 73,135,143 (GRCm39)	I79V	probably benign	Het
Ttll6	C	T	11: 96,030,568 (GRCm39)	T245I	possibly damaging	Het
Vmn2r26	T	C	6: 124,038,444 (GRCm39)	I673T	probably damaging	Het
Zfp60	T	C	7: 27,449,323 (GRCm39)	F664L	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
R6230:Rgs22	UTSW	15	36,100,176 (GRCm39)	missense	probably benign	0.02
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'- TCTTAAATGACACTCCAAGCCG -3'
(R):5'- AAGGAAGACTTCACTGGACCCC -3'

Sequencing Primer
(F):5'- GCCGGCTTACCATGATGCTG -3'
(R):5'- TCCAGCCAAGGAGTTTCCAAAATC -3'

Posted On

2017-10-10