Mutagenetix > Incidental Mutation

Incidental Mutation 'R0026:Sstr1'

64502

Institutional Source

Beutler Lab

Gene Symbol

Sstr1

Ensembl Gene

ENSMUSG00000035431

Gene Name

somatostatin receptor 1

Synonyms

Smstr-1, sst1, Smstr1

MMRRC Submission

038321-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58211772-58214444 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58212858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 89 (M89K)

Ref Sequence

ENSEMBL: ENSMUSP00000106299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044299] [ENSMUST00000110671]

AlphaFold

P30873

Predicted Effect

probably damaging
Transcript: ENSMUST00000044299
AA Change: M89K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037045
Gene: ENSMUSG00000035431
AA Change: M89K

Domain	Start	End	E-Value	Type
low complexity region	8	20	N/A	INTRINSIC
Pfam:7TM_GPCR_Srx	66	297	4.9e-8	PFAM
Pfam:7TM_GPCR_Srsx	69	338	2.7e-14	PFAM
Pfam:7tm_1	75	323	2.2e-65	PFAM
Pfam:7TM_GPCR_Srv	131	339	1.9e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110671
AA Change: M89K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106299
Gene: ENSMUSG00000035431
AA Change: M89K

Domain	Start	End	E-Value	Type
low complexity region	8	20	N/A	INTRINSIC
Pfam:7TM_GPCR_Srx	66	299	4.8e-8	PFAM
Pfam:7TM_GPCR_Srsx	69	338	2.7e-14	PFAM
Pfam:7tm_1	75	323	4.1e-70	PFAM
Pfam:7TM_GPCR_Srv	131	339	1.8e-11	PFAM

Meta Mutation Damage Score

0.5499

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. The protein encoded by this gene is a member of the superfamily of somatostatin receptors having seven transmembrane segments. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This somatostatin receptor has greater affinity for somatostatin-14 than -28. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous null mice display abnormal eye electrophysiology. Mice homozygous for a second targeted mutation display hypoactivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,066,805 (GRCm38)	I585N	possibly damaging	Het
4931408C20Rik	T	A	1: 26,683,369 (GRCm38)	D910V	probably benign	Het
A830005F24Rik	C	T	13: 48,514,372 (GRCm38)		probably benign	Het
Abca16	C	T	7: 120,477,923 (GRCm38)		probably benign	Het
Acot10	G	A	15: 20,666,236 (GRCm38)	L140F	probably benign	Het
Adam19	G	T	11: 46,136,259 (GRCm38)	C573F	probably damaging	Het
Aff3	A	G	1: 38,203,893 (GRCm38)	S948P	probably benign	Het
Anxa3	T	A	5: 96,838,401 (GRCm38)	Y300N	probably benign	Het
BC016579	T	C	16: 45,640,367 (GRCm38)	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,870,733 (GRCm38)	L113P	probably benign	Het
Casq1	T	C	1: 172,219,400 (GRCm38)		probably benign	Het
Cdc16	T	A	8: 13,759,130 (GRCm38)		probably null	Het
Cep135	C	T	5: 76,606,734 (GRCm38)	R353*	probably null	Het
Cma1	A	T	14: 55,942,164 (GRCm38)	C188S	probably damaging	Het
Csf3r	A	G	4: 126,031,884 (GRCm38)	T151A	probably benign	Het
Cyp4b1	C	T	4: 115,647,521 (GRCm38)	G56D	possibly damaging	Het
Dbn1	T	C	13: 55,477,784 (GRCm38)	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,727,363 (GRCm38)	Q203*	probably null	Het
Ephb3	A	G	16: 21,214,917 (GRCm38)	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,597,691 (GRCm38)	T118N	probably damaging	Het
Gm10801	T	C	2: 98,663,909 (GRCm38)		probably benign	Het
Got1l1	C	T	8: 27,200,248 (GRCm38)	V132I	probably benign	Het
H2-M9	T	C	17: 36,641,527 (GRCm38)		probably benign	Het
Ibtk	A	G	9: 85,690,303 (GRCm38)	V1278A	probably benign	Het
Kctd3	T	C	1: 188,976,621 (GRCm38)	T519A	probably damaging	Het
Lgsn	T	A	1: 31,203,443 (GRCm38)	V202D	probably damaging	Het
Madd	A	G	2: 91,175,708 (GRCm38)	F381L	possibly damaging	Het
Map1s	G	A	8: 70,914,638 (GRCm38)	G729D	probably damaging	Het
Mlycd	A	G	8: 119,410,435 (GRCm38)	I465V	probably benign	Het
Mrgprb1	T	C	7: 48,447,204 (GRCm38)	R108G	possibly damaging	Het
Mrgprx2	T	A	7: 48,482,023 (GRCm38)	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,438,429 (GRCm38)	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,591,573 (GRCm38)	D773G	probably damaging	Het
Nxnl1	A	G	8: 71,566,573 (GRCm38)	S3P	probably damaging	Het
Olfr109	T	A	17: 37,466,803 (GRCm38)	V199D	probably damaging	Het
Olfr921	G	A	9: 38,775,596 (GRCm38)	V114I	probably benign	Het
Otud7a	T	C	7: 63,735,801 (GRCm38)	F338L	probably benign	Het
Pdcl3	T	A	1: 38,991,280 (GRCm38)	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,594,930 (GRCm38)		probably benign	Het
Prpf31	T	A	7: 3,639,668 (GRCm38)	N413K	probably benign	Het
Rapgef5	T	C	12: 117,689,161 (GRCm38)	S307P	probably benign	Het
Relt	C	A	7: 100,850,221 (GRCm38)	E164*	probably null	Het
Rnf185	T	C	11: 3,426,617 (GRCm38)	D86G	probably damaging	Het
Rrm2b	T	C	15: 37,953,741 (GRCm38)	E21G	probably benign	Het
Scn5a	A	G	9: 119,522,566 (GRCm38)	I783T	probably damaging	Het
Senp1	T	C	15: 98,076,668 (GRCm38)	R88G	probably damaging	Het
Skint5	A	T	4: 113,546,468 (GRCm38)		probably benign	Het
Slc35b1	T	C	11: 95,390,642 (GRCm38)	S294P	probably benign	Het
Slc5a2	T	A	7: 128,270,053 (GRCm38)	I335N	probably damaging	Het
Szt2	A	T	4: 118,384,772 (GRCm38)	S1612R	possibly damaging	Het
Taf1c	T	C	8: 119,604,236 (GRCm38)		probably null	Het
Taf1d	T	A	9: 15,308,648 (GRCm38)	S64R	probably damaging	Het
Tmem125	A	G	4: 118,542,073 (GRCm38)	S54P	possibly damaging	Het
Ttf1	T	A	2: 29,071,349 (GRCm38)	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,235,371 (GRCm38)		probably null	Het
Unc5b	A	T	10: 60,774,592 (GRCm38)	I482N	possibly damaging	Het
Unc80	C	A	1: 66,521,584 (GRCm38)	Q824K	probably benign	Het
Utrn	T	C	10: 12,726,196 (GRCm38)		probably benign	Het
Vmn2r61	T	G	7: 42,275,474 (GRCm38)	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,301 (GRCm38)	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,345,160 (GRCm38)	L240*	probably null	Het

Other mutations in Sstr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Sstr1	APN	12	58,212,750 (GRCm38)	missense	probably benign
IGL01975:Sstr1	APN	12	58,213,626 (GRCm38)	missense	probably benign	0.01
R0019:Sstr1	UTSW	12	58,213,149 (GRCm38)	missense	probably damaging	1.00
R0019:Sstr1	UTSW	12	58,213,149 (GRCm38)	missense	probably damaging	1.00
R0083:Sstr1	UTSW	12	58,213,742 (GRCm38)	missense	possibly damaging	0.85
R1218:Sstr1	UTSW	12	58,213,620 (GRCm38)	missense	possibly damaging	0.68
R1254:Sstr1	UTSW	12	58,213,322 (GRCm38)	missense	possibly damaging	0.93
R1815:Sstr1	UTSW	12	58,213,478 (GRCm38)	missense	possibly damaging	0.81
R2318:Sstr1	UTSW	12	58,212,776 (GRCm38)	missense	possibly damaging	0.77
R4588:Sstr1	UTSW	12	58,213,631 (GRCm38)	missense	probably benign	0.00
R5041:Sstr1	UTSW	12	58,213,155 (GRCm38)	missense	possibly damaging	0.94
R6556:Sstr1	UTSW	12	58,213,692 (GRCm38)	missense	possibly damaging	0.94
R7332:Sstr1	UTSW	12	58,213,386 (GRCm38)	missense	probably damaging	1.00
R7342:Sstr1	UTSW	12	58,213,670 (GRCm38)	missense	possibly damaging	0.95
R7380:Sstr1	UTSW	12	58,213,280 (GRCm38)	missense	probably benign	0.01
R7452:Sstr1	UTSW	12	58,213,356 (GRCm38)	missense	probably damaging	1.00
R7873:Sstr1	UTSW	12	58,213,527 (GRCm38)	missense	probably damaging	1.00
R9036:Sstr1	UTSW	12	58,212,783 (GRCm38)	missense	possibly damaging	0.92
R9095:Sstr1	UTSW	12	58,212,834 (GRCm38)	missense	probably damaging	1.00
R9726:Sstr1	UTSW	12	58,212,698 (GRCm38)	missense	probably benign	0.03
Z1176:Sstr1	UTSW	12	58,213,526 (GRCm38)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- AAGAGCCTGGACGAAACGCTTC -3'
(R):5'- CGCATCTTGGCAATGATGAGCAC -3'

Sequencing Primer
(F):5'- TTCCCAGAATGGGACCTTAAGC -3'
(R):5'- CTTGGCAATGATGAGCACATAAC -3'

Posted On

2013-08-06