Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00906:Sstr2'

28497

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sstr2

Ensembl Gene

ENSMUSG00000047904

Gene Name

somatostatin receptor 2

Synonyms

SSTR-2, Smstr2, Smstr-2, sst2

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

IGL00906

Quality Score

Status

Chromosome

Chromosomal Location

113619342-113626028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113624995 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 247 (R247G)

Ref Sequence

ENSEMBL: ENSMUSP00000138101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067591] [ENSMUST00000106630] [ENSMUST00000125890] [ENSMUST00000136392] [ENSMUST00000146031] [ENSMUST00000146390]

AlphaFold

P30875

Predicted Effect

probably benign
Transcript: ENSMUST00000067591
AA Change: R247G

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000068578
Gene: ENSMUSG00000047904
AA Change: R247G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	51	281	1.1e-10	PFAM
Pfam:7TM_GPCR_Srsx	54	327	1.9e-20	PFAM
Pfam:7tm_1	60	312	2.5e-70	PFAM
Pfam:7TM_GPCR_Srv	118	329	4.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106630
AA Change: R247G

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102241
Gene: ENSMUSG00000047904
AA Change: R247G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	51	284	1.3e-10	PFAM
Pfam:7TM_GPCR_Srsx	54	327	1.9e-20	PFAM
Pfam:7tm_1	60	312	1.4e-65	PFAM
Pfam:7TM_GPCR_Srv	119	328	4.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123153

Predicted Effect

probably benign
Transcript: ENSMUST00000125890

SMART Domains

Protein: ENSMUSP00000115472
Gene: ENSMUSG00000041654

Domain	Start	End	E-Value	Type
Pfam:Zip	7	200	3.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136392

Predicted Effect

probably benign
Transcript: ENSMUST00000146031

SMART Domains

Protein: ENSMUSP00000121286
Gene: ENSMUSG00000041654

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146390
AA Change: R247G

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138101
Gene: ENSMUSG00000047904
AA Change: R247G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	51	284	1.8e-10	PFAM
Pfam:7TM_GPCR_Srsx	54	327	2.4e-20	PFAM
Pfam:7tm_1	60	312	3.1e-70	PFAM
Pfam:7TM_GPCR_Srv	118	329	5.7e-13	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a receptor for somatostatin, which acts at many sites to inhibit the release of several hormones and other secretory proteins. The encoded protein is a member of the superfamily of receptors having seven transmembrane segments and is involved in many processes, including adenylyl cyclase inhibition, phosphotyrosine phosphatase stimulation, and inhibition of calcium entry and cell growth. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a null allele show elevated anxiety and locomotor and exploratory deficits. Homozygotes for a reporter allele show altered motor coordination, somatostatin-induced dopamine and glutamate release, retinal rod bipolar cells and EEG patterns, and reduced infarction after focal ischemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,503,274	E221G	probably benign	Het
Alb	A	G	5: 90,472,073	N453S	probably benign	Het
Bckdha	C	T	7: 25,633,342	V183M	probably benign	Het
Brpf3	A	G	17: 28,836,700		probably benign	Het
Ccdc163	T	C	4: 116,710,290		probably null	Het
Ccdc178	A	T	18: 22,135,168	C87*	probably null	Het
Clca4a	A	G	3: 144,954,939	V708A	probably damaging	Het
Cyfip2	A	G	11: 46,200,685	V1136A	possibly damaging	Het
Dnah11	A	C	12: 117,911,202	L3976R	probably damaging	Het
Erich1	A	G	8: 14,033,770		probably benign	Het
Fam228a	A	T	12: 4,732,773	Y107N	possibly damaging	Het
Gm4788	A	T	1: 139,731,574	V739E	probably damaging	Het
Iars2	A	T	1: 185,296,403		probably benign	Het
Ifi204	A	G	1: 173,759,631		probably benign	Het
Ifih1	A	T	2: 62,645,824	I36N	probably benign	Het
Jak1	C	T	4: 101,154,629	G1092D	probably damaging	Het
Kir3dl2	G	A	X: 136,456,348	P122S	probably damaging	Het
Nacc2	T	C	2: 26,061,666	T386A	probably damaging	Het
Nrf1	C	T	6: 30,098,478	T135M	probably damaging	Het
Olfr641	G	A	7: 104,039,844	G16D	probably damaging	Het
Olfr727	A	G	14: 50,126,757	Y60C	probably damaging	Het
Pcca	A	C	14: 122,690,133	D436A	probably benign	Het
Pcdhb11	A	T	18: 37,422,121	Q168L	possibly damaging	Het
Pdgfra	A	G	5: 75,180,173	I598V	probably benign	Het
Pla2g6	C	T	15: 79,287,747	V637I	probably damaging	Het
Plac1	A	C	X: 53,070,716	V39G	probably damaging	Het
Pparg	A	G	6: 115,439,861	E5G	probably damaging	Het
Ppp1r9a	A	G	6: 5,157,023	D967G	possibly damaging	Het
Rel	T	C	11: 23,744,266	T322A	probably benign	Het
Sgk3	A	G	1: 9,877,245	T137A	probably benign	Het
Sgpp2	A	G	1: 78,390,547	R106G	probably benign	Het
Slc27a5	T	A	7: 12,991,057	M459L	probably benign	Het
Snx21	T	C	2: 164,786,220	L52P	probably damaging	Het
Srarp	G	A	4: 141,433,273	T83M	probably benign	Het
Tnpo3	G	A	6: 29,589,048	S101L	probably damaging	Het
Zan	A	G	5: 137,389,360	I4863T	unknown	Het

Other mutations in Sstr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01555:Sstr2	APN	11	113625619	missense	probably benign	0.32
IGL02173:Sstr2	APN	11	113625016	missense	probably damaging	1.00
IGL02430:Sstr2	APN	11	113624804	missense	probably damaging	0.99
chat	UTSW	11	113624549	missense	probably damaging	1.00
R0125:Sstr2	UTSW	11	113624477	missense	probably damaging	1.00
R0565:Sstr2	UTSW	11	113625619	missense	probably benign	0.32
R1227:Sstr2	UTSW	11	113624885	missense	probably damaging	0.99
R1356:Sstr2	UTSW	11	113624894	missense	probably damaging	1.00
R1992:Sstr2	UTSW	11	113624669	missense	probably benign	0.03
R2504:Sstr2	UTSW	11	113624431	missense	probably damaging	0.98
R2509:Sstr2	UTSW	11	113624923	missense	probably damaging	0.99
R2510:Sstr2	UTSW	11	113624923	missense	probably damaging	0.99
R2511:Sstr2	UTSW	11	113624923	missense	probably damaging	0.99
R4051:Sstr2	UTSW	11	113624656	missense	probably damaging	1.00
R4083:Sstr2	UTSW	11	113625245	missense	probably benign	0.05
R4207:Sstr2	UTSW	11	113624656	missense	probably damaging	1.00
R4208:Sstr2	UTSW	11	113624656	missense	probably damaging	1.00
R5666:Sstr2	UTSW	11	113624713	missense	probably damaging	1.00
R6264:Sstr2	UTSW	11	113625106	missense	probably damaging	1.00
R6339:Sstr2	UTSW	11	113624549	missense	probably damaging	1.00
R6443:Sstr2	UTSW	11	113625254	splice site	probably null
R6968:Sstr2	UTSW	11	113624948	missense	probably damaging	1.00
R7146:Sstr2	UTSW	11	113625353	missense	probably damaging	1.00
R7735:Sstr2	UTSW	11	113624597	missense	possibly damaging	0.75
R8057:Sstr2	UTSW	11	113624273	missense	probably benign
R8086:Sstr2	UTSW	11	113625172	missense	probably damaging	1.00
R8087:Sstr2	UTSW	11	113624675	missense	probably damaging	1.00
R9076:Sstr2	UTSW	11	113624351	missense	probably benign	0.00
R9194:Sstr2	UTSW	11	113624377	missense	probably benign	0.03
R9572:Sstr2	UTSW	11	113625191	missense	probably damaging	1.00

Posted On

2013-04-17