Mutagenetix > Incidental Mutations

Incidental Mutation 'R1992:Sstr2'

223711

Institutional Source

Beutler Lab

Gene Symbol

Sstr2

Ensembl Gene

ENSMUSG00000047904

Gene Name

somatostatin receptor 2

Synonyms

SSTR-2, Smstr2, Smstr-2, sst2

MMRRC Submission

040003-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.759) question?

Stock #

R1992 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113619342-113626028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113624669 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 138 (I138T)

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: I138T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000068578
Gene: ENSMUSG00000047904
AA Change: I138T

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: I138T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102241
Gene: ENSMUSG00000047904
AA Change: I138T

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: I138T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138101
Gene: ENSMUSG00000047904
AA Change: I138T

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.5%

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,338,206	D89G	probably damaging	Het
1600015I10Rik	T	A	6: 48,930,769	H234Q	probably damaging	Het
2310009B15Rik	T	C	1: 138,853,642	T90A	probably damaging	Het
4430402I18Rik	A	G	19: 28,948,624	F130L	probably damaging	Het
4932438A13Rik	A	T	3: 37,000,032	H3100L	probably benign	Het
A930011G23Rik	T	C	5: 99,233,925	D326G	possibly damaging	Het
Abcc2	A	T	19: 43,807,142	I446F	probably damaging	Het
Adamts14	A	G	10: 61,198,660	Y1150H	probably benign	Het
Adgrl2	A	G	3: 148,817,244	I217T	possibly damaging	Het
Afap1l1	A	T	18: 61,741,771	Y446*	probably null	Het
Aimp2	G	A	5: 143,906,730	A14V	probably damaging	Het
Akap8	G	A	17: 32,316,612	H143Y	probably damaging	Het
Aldh2	A	T	5: 121,575,963	V207E	possibly damaging	Het
Armc3	T	C	2: 19,293,142	Y575H	probably damaging	Het
Arpp21	T	C	9: 112,157,793	E230G	probably damaging	Het
Arrdc3	G	A	13: 80,883,689	D14N	probably damaging	Het
Atn1	A	G	6: 124,745,328		probably benign	Het
Atxn7l1	G	A	12: 33,358,744	D302N	probably damaging	Het
Bbs1	T	A	19: 4,891,708	H518L	probably benign	Het
Bmpr1a	C	A	14: 34,425,093	G241C	probably damaging	Het
Cacna1b	G	A	2: 24,732,306	P222L	probably damaging	Het
Calcrl	T	C	2: 84,370,511	Y63C	probably damaging	Het
Cand2	A	G	6: 115,785,132	H173R	possibly damaging	Het
Cap2	T	A	13: 46,637,881	Y175N	possibly damaging	Het
Card14	A	T	11: 119,321,821		probably null	Het
Cd3d	T	A	9: 44,985,001	Y29*	probably null	Het
Cd4	A	G	6: 124,867,688	V378A	possibly damaging	Het
Cluh	A	T	11: 74,660,002	H318L	probably damaging	Het
Clvs1	T	A	4: 9,281,899	D114E	probably benign	Het
Cnot4	T	A	6: 35,023,409	T548S	probably benign	Het
Col18a1	T	C	10: 77,081,154	I114V	unknown	Het
Cr2	G	A	1: 195,154,150	P1278S	possibly damaging	Het
Crebbp	A	T	16: 4,128,697		probably null	Het
D430042O09Rik	A	G	7: 125,820,089	N476S	probably benign	Het
Dnah7a	T	G	1: 53,582,676	K1097Q	possibly damaging	Het
Doc2a	T	A	7: 126,851,807		probably null	Het
Dpp10	A	T	1: 123,905,106	V48E	probably null	Het
Dsg2	A	G	18: 20,601,473	K836R	probably damaging	Het
Egr2	T	C	10: 67,540,027	V164A	probably damaging	Het
Erbin	A	T	13: 103,833,713	S1132T	probably benign	Het
Espn	T	A	4: 152,128,555		probably null	Het
Fam83b	A	G	9: 76,492,022	S600P	probably benign	Het
Fanca	A	T	8: 123,297,812	N425K	possibly damaging	Het
Flot2	C	T	11: 78,058,619	L294F	probably damaging	Het
Frs2	A	G	10: 117,074,554	V301A	probably benign	Het
Fv1	T	A	4: 147,869,161	N61K	possibly damaging	Het
Fxr2	A	G	11: 69,649,833	E339G	possibly damaging	Het
Gck	T	C	11: 5,906,515	Y214C	probably damaging	Het
Gm4858	G	T	3: 93,074,037	A121S	probably benign	Het
Gm5346	T	C	8: 43,627,139	K16R	probably benign	Het
Gm9573	A	T	17: 35,618,708	S1529T	probably benign	Het
Golga3	C	G	5: 110,192,973	T551R	probably damaging	Het
Gorab	A	G	1: 163,397,056	S59P	probably damaging	Het
Gsdme	C	T	6: 50,208,122	V451M	probably damaging	Het
H2-Bl	A	C	17: 36,081,046	I216S	probably damaging	Het
Herc4	T	A	10: 63,245,964	V22E	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hoxa2	A	T	6: 52,164,596	S17T	probably damaging	Het
Hs3st5	A	G	10: 36,832,886	Y139C	probably damaging	Het
Ism1	G	A	2: 139,746,017	V221I	probably benign	Het
Kalrn	T	G	16: 33,975,738	L1222F	probably damaging	Het
Kdm4c	A	G	4: 74,343,394	D602G	possibly damaging	Het
Ktn1	A	G	14: 47,695,521	K711E	probably damaging	Het
Lce1k	A	T	3: 92,806,818	C20S	unknown	Het
Macf1	A	G	4: 123,456,695	S3792P	probably damaging	Het
Maml3	C	T	3: 51,690,757	M189I	probably benign	Het
Mcc	C	A	18: 44,491,315	E213*	probably null	Het
Mep1a	T	G	17: 43,502,682	I13L	probably benign	Het
Mkrn2	G	T	6: 115,609,601	C16F	probably damaging	Het
Mlh1	C	T	9: 111,228,563	A727T	probably damaging	Het
Naa16	T	C	14: 79,356,491	Y344C	probably damaging	Het
Nebl	T	A	2: 17,452,510	I80F	probably damaging	Het
Nlrc4	T	A	17: 74,445,633	Y585F	probably benign	Het
Nrcam	A	G	12: 44,540,970	K149R	probably damaging	Het
Nufip1	T	A	14: 76,134,847	I467N	probably damaging	Het
Nup133	A	G	8: 123,906,221	I1057T	possibly damaging	Het
Obscn	A	T	11: 58,995,827		probably benign	Het
Olfr1113	T	A	2: 87,213,244	C117*	probably null	Het
Olfr173	A	G	16: 58,796,946	V300A	probably benign	Het
Olfr177	A	C	16: 58,872,511	I213R	probably benign	Het
Pi4k2a	A	T	19: 42,115,938	I380F	probably damaging	Het
Piezo2	A	T	18: 63,074,662	L1426Q	probably null	Het
Pik3cg	A	T	12: 32,204,025	D654E	possibly damaging	Het
Poli	G	T	18: 70,508,987	P714Q	probably damaging	Het
Polr3f	A	G	2: 144,536,310	N201D	probably benign	Het
Ptprz1	A	T	6: 22,959,748	K81N	probably benign	Het
Rbm19	T	C	5: 120,133,883		probably null	Het
Sec24a	C	T	11: 51,736,363	V241I	probably benign	Het
Sgk3	A	G	1: 9,880,342	T160A	possibly damaging	Het
Slc1a4	A	G	11: 20,304,375	I497T	probably benign	Het
Slc26a9	A	T	1: 131,762,794	D512V	probably damaging	Het
Slc43a3	C	T	2: 84,957,740	R489C	probably damaging	Het
Slc5a12	T	A	2: 110,621,744	F327L	probably benign	Het
Slitrk3	A	G	3: 73,049,771	V556A	possibly damaging	Het
Spib	T	C	7: 44,528,857	E180G	probably benign	Het
Spint2	T	A	7: 29,259,408	N128Y	probably damaging	Het
Spx	G	A	6: 142,418,519	G102E	probably benign	Het
Spz1	T	A	13: 92,575,658	E103D	possibly damaging	Het
Sytl3	T	A	17: 6,733,049	I206N	possibly damaging	Het
Tcaf2	T	C	6: 42,629,857	T388A	probably benign	Het
Thap12	T	C	7: 98,716,365	V580A	possibly damaging	Het
Tlr5	T	A	1: 182,974,347	D405E	probably damaging	Het
Tnxb	T	C	17: 34,671,904	V407A	probably damaging	Het
Tpx2	T	A	2: 152,890,624	M606K	probably benign	Het
Trim43a	T	G	9: 88,584,259	L211R	probably damaging	Het
Trim46	A	T	3: 89,237,701	Y489N	probably damaging	Het
Ttc28	C	T	5: 111,276,322	S1485L	probably benign	Het
Ttll8	T	C	15: 88,914,451	T694A	probably benign	Het
Txnl1	T	C	18: 63,679,514	T70A	probably benign	Het
Ube3a	C	T	7: 59,303,787	A823V	probably damaging	Het
Ubqln5	C	A	7: 104,129,534	V28F	probably damaging	Het
Ulk1	T	A	5: 110,787,151	Q972L	probably damaging	Het
Unc93b1	T	C	19: 3,944,062	Y398H	probably benign	Het
Usp1	A	G	4: 98,934,294	D615G	probably benign	Het
Utp15	A	G	13: 98,250,912	C385R	probably benign	Het
Vmn2r91	T	A	17: 18,135,880	V603D	probably damaging	Het
Whamm	C	T	7: 81,591,771	R277*	probably null	Het
Wnt8a	A	G	18: 34,544,884	D115G	probably damaging	Het
Yjefn3	A	T	8: 69,888,995		probably null	Het
Ywhab	A	T	2: 164,011,887	I95F	probably damaging	Het
Zfp143	C	T	7: 110,061,282		probably benign	Het
Zfp607b	C	G	7: 27,702,524	T135R	possibly damaging	Het
Zfp970	A	G	2: 177,474,870	Q79R	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ATCCTTAACCTGGCCATTGC -3'
(R):5'- TACCAGGAACCCCAGGATGAAG -3'

Sequencing Primer
(F):5'- TGGCCATTGCAGATGAACTC -3'
(R):5'- GCGTAGATAATGAAACCTGTGTACC -3'

Posted On

2014-08-25