Mutagenetix > Incidental Mutation

Incidental Mutation 'R9076:Sstr2'

689813

Institutional Source

Beutler Lab

Gene Symbol

Sstr2

Ensembl Gene

ENSMUSG00000047904

Gene Name

somatostatin receptor 2

Synonyms

Smstr-2, Smstr2, sst2, SSTR-2

MMRRC Submission

068897-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.697) question?

Stock #

R9076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113510168-113516854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113515177 bp (GRCm39)

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

99% (67/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	A	8: 89,054,336 (GRCm39)	G1064R	probably damaging	Het
Adcy9	A	G	16: 4,106,687 (GRCm39)	V1046A	probably damaging	Het
Adgrv1	C	T	13: 81,570,247 (GRCm39)		probably null	Het
Apbb2	A	C	5: 66,469,507 (GRCm39)	L554W	probably damaging	Het
Arhgef10	C	T	8: 15,024,993 (GRCm39)	P722S	probably damaging	Het
B3galt9	A	T	2: 34,729,209 (GRCm39)	Y336F	probably damaging	Het
Capns1	A	C	7: 29,893,510 (GRCm39)	M1R	probably null	Het
Chst1	C	T	2: 92,443,761 (GRCm39)	Q78*	probably null	Het
Clec12b	A	G	6: 129,356,580 (GRCm39)	S195P	possibly damaging	Het
Cog8	C	T	8: 107,779,208 (GRCm39)	M356I	probably damaging	Het
Cyp4b1	T	C	4: 115,482,424 (GRCm39)	N452D	probably damaging	Het
Defb40	A	T	8: 19,024,994 (GRCm39)	Y71N	probably benign	Het
Dhx8	G	T	11: 101,629,021 (GRCm39)	R190L		Het
Disp1	G	A	1: 182,868,799 (GRCm39)	T1207M	possibly damaging	Het
Dnah9	T	A	11: 66,008,464 (GRCm39)	Y787F	probably benign	Het
Egflam	T	C	15: 7,237,155 (GRCm39)	N1010D	probably damaging	Het
Fam151a	T	A	4: 106,603,254 (GRCm39)	Y272N	probably damaging	Het
Fat1	T	C	8: 45,492,938 (GRCm39)	Y3887H	probably damaging	Het
Fpr3	T	A	17: 18,191,725 (GRCm39)	I332N	probably benign	Het
Frmd4a	G	T	2: 4,608,765 (GRCm39)	G878W	probably damaging	Het
Fv1	T	C	4: 147,953,628 (GRCm39)	Y65H	possibly damaging	Het
Gabra6	G	A	11: 42,198,289 (GRCm39)	A387V	probably benign	Het
Gna11	T	C	10: 81,366,715 (GRCm39)	T332A		Het
Gpr161	T	A	1: 165,133,757 (GRCm39)	H6Q	possibly damaging	Het
Grin2b	CA	C	6: 135,709,509 (GRCm39)		probably null	Het
Heatr3	A	T	8: 88,876,827 (GRCm39)	M290L	probably benign	Het
Ifi47	T	G	11: 48,986,842 (GRCm39)	I203R	probably benign	Het
Ighv5-8	TATACAT	TAT	12: 113,618,583 (GRCm39)		probably benign	Het
Klhl10	A	G	11: 100,337,962 (GRCm39)	M234V	possibly damaging	Het
Klra4	A	G	6: 130,039,107 (GRCm39)	I95T	possibly damaging	Het
Krt84	A	G	15: 101,438,098 (GRCm39)	F286L	probably damaging	Het
Lrp2	A	G	2: 69,350,260 (GRCm39)	V704A	probably benign	Het
Lypd6b	A	T	2: 49,837,534 (GRCm39)	S169C	possibly damaging	Het
Mapk12	T	C	15: 89,024,611 (GRCm39)	E22G	probably benign	Het
Ncapg	T	C	5: 45,833,983 (GRCm39)	C340R	probably benign	Het
Ncor2	A	G	5: 125,111,086 (GRCm39)	L394P		Het
Nek1	T	G	8: 61,481,768 (GRCm39)	S228A	probably damaging	Het
Or2ak7	T	C	11: 58,574,722 (GRCm39)	C8R	probably benign	Het
Or2t29	A	T	11: 58,433,782 (GRCm39)	C186*	probably null	Het
Or2t44	T	A	11: 58,677,559 (GRCm39)	F166L	possibly damaging	Het
Or4c119	C	T	2: 88,986,719 (GRCm39)	E267K	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Pcdha8	C	A	18: 37,126,285 (GRCm39)	P256T	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Ptprn	A	T	1: 75,229,018 (GRCm39)	M799K	probably damaging	Het
Rhpn2	A	T	7: 35,083,473 (GRCm39)		probably benign	Het
Sae1	A	G	7: 16,070,668 (GRCm39)	F281L	probably benign	Het
Slc25a23	A	G	17: 57,354,309 (GRCm39)	Y366H	probably benign	Het
Slc25a25	G	T	2: 32,309,175 (GRCm39)	T222K	probably damaging	Het
Smarca2	T	A	19: 26,659,452 (GRCm39)	F914Y	possibly damaging	Het
Spef2	C	A	15: 9,653,091 (GRCm39)	V897L	probably benign	Het
Spon2	C	A	5: 33,374,054 (GRCm39)	E110*	probably null	Het
Stk4	T	C	2: 163,959,985 (GRCm39)	V415A	probably benign	Het
Tcaf1	T	G	6: 42,654,372 (GRCm39)	T607P	probably benign	Het
Ush1c	C	A	7: 45,850,480 (GRCm39)	L766F	probably damaging	Het
Usp9y	T	C	Y: 1,383,354 (GRCm39)	I795V	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r53	A	G	7: 12,340,231 (GRCm39)	S81P	probably damaging	Het
Vps45	A	G	3: 95,960,345 (GRCm39)		probably benign	Het
Wdr6	A	G	9: 108,451,627 (GRCm39)	V752A	probably benign	Het
Xkr4	G	A	1: 3,286,358 (GRCm39)	R611*	probably null	Het
Zc3h6	T	G	2: 128,859,096 (GRCm39)	Y1042*	probably null	Het
Zfp236	A	G	18: 82,638,469 (GRCm39)	S1384P	possibly damaging	Het
Zfp800	A	T	6: 28,243,215 (GRCm39)	N583K	probably benign	Het
Zpld1	T	C	16: 55,061,764 (GRCm39)	S206G	probably benign	Het
Zxdc	T	A	6: 90,349,821 (GRCm39)	S372R	probably damaging	Het

Other mutations in Sstr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Sstr2	APN	11	113,515,821 (GRCm39)	missense	probably benign	0.22
IGL01555:Sstr2	APN	11	113,516,445 (GRCm39)	missense	probably benign	0.32
IGL02173:Sstr2	APN	11	113,515,842 (GRCm39)	missense	probably damaging	1.00
IGL02430:Sstr2	APN	11	113,515,630 (GRCm39)	missense	probably damaging	0.99
chat	UTSW	11	113,515,375 (GRCm39)	missense	probably damaging	1.00
R0125:Sstr2	UTSW	11	113,515,303 (GRCm39)	missense	probably damaging	1.00
R0565:Sstr2	UTSW	11	113,516,445 (GRCm39)	missense	probably benign	0.32
R1227:Sstr2	UTSW	11	113,515,711 (GRCm39)	missense	probably damaging	0.99
R1356:Sstr2	UTSW	11	113,515,720 (GRCm39)	missense	probably damaging	1.00
R1992:Sstr2	UTSW	11	113,515,495 (GRCm39)	missense	probably benign	0.03
R2504:Sstr2	UTSW	11	113,515,257 (GRCm39)	missense	probably damaging	0.98
R2509:Sstr2	UTSW	11	113,515,749 (GRCm39)	missense	probably damaging	0.99
R2510:Sstr2	UTSW	11	113,515,749 (GRCm39)	missense	probably damaging	0.99
R2511:Sstr2	UTSW	11	113,515,749 (GRCm39)	missense	probably damaging	0.99
R4051:Sstr2	UTSW	11	113,515,482 (GRCm39)	missense	probably damaging	1.00
R4083:Sstr2	UTSW	11	113,516,071 (GRCm39)	missense	probably benign	0.05
R4207:Sstr2	UTSW	11	113,515,482 (GRCm39)	missense	probably damaging	1.00
R4208:Sstr2	UTSW	11	113,515,482 (GRCm39)	missense	probably damaging	1.00
R5666:Sstr2	UTSW	11	113,515,539 (GRCm39)	missense	probably damaging	1.00
R6264:Sstr2	UTSW	11	113,515,932 (GRCm39)	missense	probably damaging	1.00
R6339:Sstr2	UTSW	11	113,515,375 (GRCm39)	missense	probably damaging	1.00
R6443:Sstr2	UTSW	11	113,516,080 (GRCm39)	splice site	probably null
R6968:Sstr2	UTSW	11	113,515,774 (GRCm39)	missense	probably damaging	1.00
R7146:Sstr2	UTSW	11	113,516,179 (GRCm39)	missense	probably damaging	1.00
R7735:Sstr2	UTSW	11	113,515,423 (GRCm39)	missense	possibly damaging	0.75
R8057:Sstr2	UTSW	11	113,515,099 (GRCm39)	missense	probably benign
R8086:Sstr2	UTSW	11	113,515,998 (GRCm39)	missense	probably damaging	1.00
R8087:Sstr2	UTSW	11	113,515,501 (GRCm39)	missense	probably damaging	1.00
R9194:Sstr2	UTSW	11	113,515,203 (GRCm39)	missense	probably benign	0.03
R9572:Sstr2	UTSW	11	113,516,017 (GRCm39)	missense	probably damaging	1.00

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