Mutagenetix > Incidental Mutation

Incidental Mutation 'R6968:Sstr2'

542128

Institutional Source

Beutler Lab

Gene Symbol

Sstr2

Ensembl Gene

ENSMUSG00000047904

Gene Name

somatostatin receptor 2

Synonyms

SSTR-2, Smstr2, Smstr-2, sst2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.767) question?

Stock #

R6968 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113619342-113626028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113624948 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 231 (I231T)

Ref Sequence

ENSEMBL: ENSMUSP00000138101 (fasta)

Gene Model

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

AlphaFold

P30875

Predicted Effect

probably damaging
Transcript: ENSMUST00000067591
AA Change: I231T

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

SMART Domains

Protein: ENSMUSP00000068578
Gene: ENSMUSG00000047904
AA Change: I231T

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 damaging
Transcript: ENSMUST00000106630
AA Change: I231T

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

SMART Domains

Protein: ENSMUSP00000102241
Gene: ENSMUSG00000047904
AA Change: I231T

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

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 damaging
Transcript: ENSMUST00000146390
AA Change: I231T

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

SMART Domains

Protein: ENSMUSP00000138101
Gene: ENSMUSG00000047904
AA Change: I231T

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

Meta Mutation Damage Score

0.7572

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

97% (57/59)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apip	C	T	2: 103,089,453	L125F	possibly damaging	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Arhgef5	T	C	6: 43,275,342	V1009A	probably benign	Het
Armc4	T	C	18: 7,273,155		probably null	Het
Asah2	A	T	19: 32,012,513	I489K	probably benign	Het
Bace1	A	G	9: 45,854,965		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Ccdc162	T	C	10: 41,673,844	T348A	possibly damaging	Het
Cdkn2aip	C	A	8: 47,713,887		probably benign	Het
Cep78	A	C	19: 15,981,738	F111V	probably benign	Het
Chd4	T	A	6: 125,108,318	L784Q	probably damaging	Het
Chrna6	C	T	8: 27,406,655	C398Y	probably benign	Het
Cmip	T	C	8: 117,377,156	Y128H	probably damaging	Het
Cpne2	C	T	8: 94,548,502	P46L	probably damaging	Het
Cyp2w1	A	G	5: 139,353,991	Q112R	probably damaging	Het
Entpd3	A	T	9: 120,560,656	E336V	probably benign	Het
Fbxw28	A	C	9: 109,330,788	S197A	probably benign	Het
Foxk2	T	C	11: 121,260,482	F118L	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,649,576		probably benign	Het
Hinfp	A	C	9: 44,297,985	S306A	probably benign	Het
Hspg2	T	A	4: 137,535,156	V1663E	probably damaging	Het
Inpp4b	T	C	8: 81,844,457	I125T	probably benign	Het
Jag2	C	T	12: 112,914,258	E592K	probably benign	Het
Krt23	T	A	11: 99,481,074	E317V	probably damaging	Het
Ltbp2	C	T	12: 84,789,083		probably null	Het
Mast4	G	T	13: 102,798,078	N152K	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mier2	G	A	10: 79,540,642		probably benign	Het
Mmp9	A	G	2: 164,952,940	T584A	probably benign	Het
Necab1	T	C	4: 14,957,852	E335G	probably damaging	Het
Nlrp9b	T	A	7: 20,049,508	N925K	probably damaging	Het
Nr4a2	T	C	2: 57,108,746		probably null	Het
Nrg2	T	C	18: 36,196,446	I239V	probably benign	Het
Nsun2	A	G	13: 69,631,290	D562G	probably benign	Het
Olfr391-ps	A	G	11: 73,799,379	I126T	possibly damaging	Het
Ormdl3	T	A	11: 98,584,115	M1L	probably benign	Het
Pcdh10	T	A	3: 45,379,542	V97D	probably damaging	Het
Pde3a	T	C	6: 141,487,932	F847L	probably damaging	Het
Ppp1r13b	C	A	12: 111,833,178	V722F	possibly damaging	Het
Rhoh	A	G	5: 65,892,519	D44G	possibly damaging	Het
Riox1	C	T	12: 83,951,373	R228C	probably damaging	Het
Rtl1	C	T	12: 109,594,679	R242Q	unknown	Het
Saxo2	T	C	7: 82,643,761	T43A	probably damaging	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Sema3f	C	T	9: 107,691,449		probably null	Het
Snap25	T	C	2: 136,769,770	M64T	probably benign	Het
Spef2	T	C	15: 9,597,340	N1410S	probably benign	Het
Stam	A	T	2: 14,116,018	H78L	probably damaging	Het
Suox	C	T	10: 128,671,833	V109I	possibly damaging	Het
Syne1	T	C	10: 5,117,041	R7075G	probably benign	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tln1	C	T	4: 43,550,217	R482Q	probably benign	Het
Tnrc6a	T	C	7: 123,182,427	V1440A	probably benign	Het
Togaram2	A	G	17: 71,709,613	D655G	probably damaging	Het
Trgv2	A	T	13: 19,336,726	I66K	probably damaging	Het
Vmn1r113	A	T	7: 20,787,951	I223F	probably damaging	Het
Vmn2r62	T	A	7: 42,788,442	H206L	probably benign	Het
Zan	T	A	5: 137,461,813	Y1272F	unknown	Het
Zfp39	T	C	11: 58,891,480	H152R	probably benign	Het
Zfp41	T	A	15: 75,618,461	Y87*	probably null	Het
Zfp933	A	T	4: 147,826,197	L314H	probably damaging	Het

Other mutations in Sstr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Sstr2	APN	11	113624995	missense	probably benign	0.22
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
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

Predicted Primers

PCR Primer
(F):5'- CGGACAGCCAAGATGATCAATG -3'
(R):5'- AGTCAAACATGCCTTTCAGGG -3'

Sequencing Primer
(F):5'- CCAAGATGATCAATGTAGCTGTGTG -3'
(R):5'- CCTTTCAGGGCTGGGGTG -3'

Posted On

2018-11-28