Mutagenetix > Incidental Mutations

Incidental Mutation 'R9076:Sstr2'

689813

Institutional Source

Beutler Lab

Gene Symbol

Sstr2

Ensembl Gene

ENSMUSG00000047904

Gene Name

somatostatin receptor 2

Synonyms

SSTR-2, Smstr2, Smstr-2, sst2

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.716) question?

Stock #

R9076 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113619342-113626028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113624351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 32 (N32S)

Ref Sequence

ENSEMBL: ENSMUSP00000102241 (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: N32S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000068578
Gene: ENSMUSG00000047904
AA Change: N32S

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: N32S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000102241
Gene: ENSMUSG00000047904
AA Change: N32S

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

SMART Domains

Protein: ENSMUSP00000138101
Gene: ENSMUSG00000047904
AA Change: N32S

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	CGAATCTGCACACTGAGGACTTGGCCCTGGGATGCATGCAGGAGAATCTGCACACTGAGGACTTGGCCCTGGGATGCATGCAGGAGAATCTGCACACTGAGGACTTGGCCCTGGGATGCATGCAGGAGAATCTGCACACTGAGGACTTGGCCCTGGGATGTATGCAGGAGAATCTGCACACTGAGGACTTGGCCCTGGG	CGAATCTGCACACTGAGGACTTGGCCCTGGGATGCATGCAGGAGAATCTGCACACTGAGGACTTGGCCCTGGGATGCATGCAGGAGAATCTGCACACTGAGGACTTGGCCCTGGGATGTATGCAGGAGAATCTGCACACTGAGGACTTGGCCCTGGG	10: 82,288,556		probably benign	Het
Adcy7	G	A	8: 88,327,708	G1064R	probably damaging	Het
Adcy9	A	G	16: 4,288,823	V1046A	probably damaging	Het
Adgrv1	C	T	13: 81,422,128		probably null	Het
Apbb2	A	C	5: 66,312,164	L554W	probably damaging	Het
Arhgef10	C	T	8: 14,974,993	P722S	probably damaging	Het
Capns1	A	C	7: 30,194,085	M1R	probably null	Het
Chst1	C	T	2: 92,613,416	Q78*	probably null	Het
Clec12b	A	G	6: 129,379,617	S195P	possibly damaging	Het
Cog8	C	T	8: 107,052,576	M356I	probably damaging	Het
Cyp4b1	T	C	4: 115,625,227	N452D	probably damaging	Het
Defb40	A	T	8: 18,974,978	Y71N	probably benign	Het
Dhx8	G	T	11: 101,738,195	R190L		Het
Disp1	G	A	1: 183,087,235	T1207M	possibly damaging	Het
Dnah9	T	A	11: 66,117,638	Y787F	probably benign	Het
Egflam	T	C	15: 7,207,674	N1010D	probably damaging	Het
Fam151a	T	A	4: 106,746,057	Y272N	probably damaging	Het
Fat1	T	C	8: 45,039,901	Y3887H	probably damaging	Het
Fpr3	T	A	17: 17,971,463	I332N	probably benign	Het
Frmd4a	G	T	2: 4,603,954	G878W	probably damaging	Het
Fv1	T	C	4: 147,869,171	Y65H	possibly damaging	Het
Gabra6	G	A	11: 42,307,462	A387V	probably benign	Het
Gm34653	A	T	2: 34,839,197	Y336F	probably damaging	Het
Gna11	T	C	10: 81,530,881	T332A		Het
Gpr161	T	A	1: 165,306,188	H6Q	possibly damaging	Het
Grin2b	CA	C	6: 135,732,511		probably null	Het
Heatr3	A	T	8: 88,150,199	M290L	probably benign	Het
Ifi47	T	G	11: 49,096,015	I203R	probably benign	Het
Ighv5-8	TATACAT	TAT	12: 113,654,963		probably benign	Het
Klhl10	A	G	11: 100,447,136	M234V	possibly damaging	Het
Klra4	A	G	6: 130,062,144	I95T	possibly damaging	Het
Krt84	A	G	15: 101,529,663	F286L	probably damaging	Het
Lrp2	A	G	2: 69,519,916	V704A	probably benign	Het
Lypd6b	A	T	2: 49,947,522	S169C	possibly damaging	Het
Mapk12	T	C	15: 89,140,408	E22G	probably benign	Het
Ncapg	T	C	5: 45,676,641	C340R	probably benign	Het
Ncor2	A	G	5: 125,034,022	L394P		Het
Nek1	T	G	8: 61,028,734	S228A	probably damaging	Het
Olfr1224-ps1	C	T	2: 89,156,375	E267K	possibly damaging	Het
Olfr314	T	A	11: 58,786,733	F166L	possibly damaging	Het
Olfr320	T	C	11: 58,683,896	C8R	probably benign	Het
Olfr329-ps	A	T	11: 58,542,956	C186*	probably null	Het
Olfr657	C	T	7: 104,636,084	R137C	probably benign	Het
Pcdha8	C	A	18: 36,993,232	P256T	possibly damaging	Het
Pmm1	C	T	15: 81,955,695	R143H	probably damaging	Het
Ptprn	A	T	1: 75,252,374	M799K	probably damaging	Het
Sae1	A	G	7: 16,336,743	F281L	probably benign	Het
Slc25a23	A	G	17: 57,047,309	Y366H	probably benign	Het
Slc25a25	G	T	2: 32,419,163	T222K	probably damaging	Het
Smarca2	T	A	19: 26,682,052	F914Y	possibly damaging	Het
Spef2	C	A	15: 9,653,005	V897L	probably benign	Het
Spon2	C	A	5: 33,216,710	E110*	probably null	Het
Stk4	T	C	2: 164,118,065	V415A	probably benign	Het
Tcaf1	T	G	6: 42,677,438	T607P	probably benign	Het
Ush1c	C	A	7: 46,201,056	L766F	probably damaging	Het
Usp9y	T	C	Y: 1,383,354	I795V	probably benign	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn2r53	A	G	7: 12,606,304	S81P	probably damaging	Het
Wdr6	A	G	9: 108,574,428	V752A	probably benign	Het
Xkr4	G	A	1: 3,216,135	R611*	probably null	Het
Zc3h6	T	G	2: 129,017,176	Y1042*	probably null	Het
Zfp236	A	G	18: 82,620,344	S1384P	possibly damaging	Het
Zfp800	A	T	6: 28,243,216	N583K	probably benign	Het
Zpld1	T	C	16: 55,241,401	S206G	probably benign	Het
Zxdc	T	A	6: 90,372,839	S372R	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
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
R9194:Sstr2	UTSW	11	113624377	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TAAGTAGCCTGGGACTGACG -3'
(R):5'- AGTTCATCTGCAATGGCCAGG -3'

Sequencing Primer
(F):5'- GATGTCACAGTAGAATCTTGGCCC -3'
(R):5'- TCATCTGCAATGGCCAGGTTAAG -3'

Posted On

2021-11-19