Mutagenetix > Incidental Mutation

Incidental Mutation 'R4588:Sstr1'

342630

Institutional Source

Beutler Lab

Gene Symbol

Sstr1

Ensembl Gene

ENSMUSG00000035431

Gene Name

somatostatin receptor 1

Synonyms

Smstr1, Smstr-1, sst1

MMRRC Submission

042007-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4588 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58258558-58261230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 58260417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 347 (A347S)

Ref Sequence

ENSEMBL: ENSMUSP00000106299 (fasta)

Gene Model

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

AlphaFold

P30873

Predicted Effect

probably benign
Transcript: ENSMUST00000044299
AA Change: A347S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000037045
Gene: ENSMUSG00000035431
AA Change: A347S

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 benign
Transcript: ENSMUST00000110671
AA Change: A347S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106299
Gene: ENSMUSG00000035431
AA Change: A347S

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

0.0928

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (51/52)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,833,701 (GRCm39)		probably null	Het
Abcb4	A	T	5: 8,997,328 (GRCm39)	I936F	probably benign	Het
Adnp2	G	T	18: 80,171,863 (GRCm39)	L849I	probably benign	Het
Atf7ip	T	C	6: 136,576,692 (GRCm39)	S1032P	probably benign	Het
Atr	A	C	9: 95,747,720 (GRCm39)	D334A	probably benign	Het
Atrip	A	T	9: 108,889,347 (GRCm39)	D20E	probably damaging	Het
Atxn7	T	A	14: 14,096,268 (GRCm38)	C43*	probably null	Het
Cfap65	C	A	1: 74,943,215 (GRCm39)	Q1603H	possibly damaging	Het
Cpne5	T	C	17: 29,383,687 (GRCm39)	I327V	probably benign	Het
Ctsa	T	C	2: 164,676,070 (GRCm39)	S41P	possibly damaging	Het
Cyp4x1	A	T	4: 114,965,994 (GRCm39)	L444Q	probably damaging	Het
Dchs1	C	A	7: 105,405,248 (GRCm39)	M2431I	probably benign	Het
Ddi1	T	A	9: 6,266,003 (GRCm39)	H122L	probably benign	Het
Defa21	C	T	8: 21,515,664 (GRCm39)	P21S	probably damaging	Het
Ect2	A	G	3: 27,201,149 (GRCm39)	V77A	probably damaging	Het
Ermap	C	A	4: 119,045,445 (GRCm39)		probably benign	Het
Fancm	G	A	12: 65,165,215 (GRCm39)		probably null	Het
Gcnt3	T	A	9: 69,941,512 (GRCm39)	D352V	probably damaging	Het
Gys2	A	G	6: 142,395,181 (GRCm39)	M428T	possibly damaging	Het
Igtp	T	A	11: 58,097,508 (GRCm39)	N226K	probably damaging	Het
Itpr2	T	A	6: 146,142,694 (GRCm39)	H1675L	probably benign	Het
Lipo4	G	A	19: 33,476,647 (GRCm39)	P367L	possibly damaging	Het
Lzts3	T	C	2: 130,476,686 (GRCm39)	*587W	probably null	Het
Mast3	T	A	8: 71,233,251 (GRCm39)	K300*	probably null	Het
Mepce	G	A	5: 137,783,534 (GRCm39)	T264I	possibly damaging	Het
Mif4gd	A	T	11: 115,500,372 (GRCm39)	I62N	probably damaging	Het
Or14a260	C	T	7: 85,984,852 (GRCm39)	V251I	probably benign	Het
Or7e175	T	A	9: 20,049,383 (GRCm39)	*324K	probably null	Het
Palm3	A	G	8: 84,756,015 (GRCm39)	K509R	probably benign	Het
Pde11a	T	C	2: 75,859,647 (GRCm39)	T821A	probably damaging	Het
Pik3r5	A	G	11: 68,384,087 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,271,092 (GRCm39)	T3154A	probably benign	Het
Ptprs	A	G	17: 56,732,534 (GRCm39)	Y438H	probably damaging	Het
Rdh8	T	A	9: 20,734,025 (GRCm39)	D70E	probably benign	Het
Scn2a	A	T	2: 65,544,111 (GRCm39)	I831L	possibly damaging	Het
Selenoo	A	G	15: 88,980,921 (GRCm39)	H420R	probably benign	Het
Slc22a16	T	C	10: 40,446,677 (GRCm39)		probably benign	Het
Slc5a1	A	G	5: 33,302,632 (GRCm39)	T208A	probably benign	Het
Sparc	T	C	11: 55,296,062 (GRCm39)	M121V	probably benign	Het
Stab1	C	A	14: 30,879,402 (GRCm39)	V693F	probably benign	Het
Tnn	A	G	1: 159,972,681 (GRCm39)	V307A	probably benign	Het
Trmt1	A	G	8: 85,417,382 (GRCm39)		probably benign	Het
Ttc3	T	C	16: 94,243,760 (GRCm39)	S1255P	probably benign	Het
Ube2ql1	A	C	13: 69,887,276 (GRCm39)	S62A	unknown	Het
Vmn2r84	T	A	10: 130,221,809 (GRCm39)	M804L	probably damaging	Het
Vps13a	T	C	19: 16,617,403 (GRCm39)	T3002A	probably damaging	Het
Vps50	A	G	6: 3,562,306 (GRCm39)	E467G	probably damaging	Het

Other mutations in Sstr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Sstr1	APN	12	58,259,536 (GRCm39)	missense	probably benign
IGL01975:Sstr1	APN	12	58,260,412 (GRCm39)	missense	probably benign	0.01
R0019:Sstr1	UTSW	12	58,259,935 (GRCm39)	missense	probably damaging	1.00
R0019:Sstr1	UTSW	12	58,259,935 (GRCm39)	missense	probably damaging	1.00
R0026:Sstr1	UTSW	12	58,259,644 (GRCm39)	missense	probably damaging	1.00
R0083:Sstr1	UTSW	12	58,260,528 (GRCm39)	missense	possibly damaging	0.85
R1218:Sstr1	UTSW	12	58,260,406 (GRCm39)	missense	possibly damaging	0.68
R1254:Sstr1	UTSW	12	58,260,108 (GRCm39)	missense	possibly damaging	0.93
R1815:Sstr1	UTSW	12	58,260,264 (GRCm39)	missense	possibly damaging	0.81
R2318:Sstr1	UTSW	12	58,259,562 (GRCm39)	missense	possibly damaging	0.77
R5041:Sstr1	UTSW	12	58,259,941 (GRCm39)	missense	possibly damaging	0.94
R6556:Sstr1	UTSW	12	58,260,478 (GRCm39)	missense	possibly damaging	0.94
R7332:Sstr1	UTSW	12	58,260,172 (GRCm39)	missense	probably damaging	1.00
R7342:Sstr1	UTSW	12	58,260,456 (GRCm39)	missense	possibly damaging	0.95
R7380:Sstr1	UTSW	12	58,260,066 (GRCm39)	missense	probably benign	0.01
R7452:Sstr1	UTSW	12	58,260,142 (GRCm39)	missense	probably damaging	1.00
R7873:Sstr1	UTSW	12	58,260,313 (GRCm39)	missense	probably damaging	1.00
R9036:Sstr1	UTSW	12	58,259,569 (GRCm39)	missense	possibly damaging	0.92
R9095:Sstr1	UTSW	12	58,259,620 (GRCm39)	missense	probably damaging	1.00
R9726:Sstr1	UTSW	12	58,259,484 (GRCm39)	missense	probably benign	0.03
Z1176:Sstr1	UTSW	12	58,260,312 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- TTTCTACGTGGTACAGCTGGTC -3'
(R):5'- CTGGTGTCGGGTTACCATTC -3'

Sequencing Primer
(F):5'- ACAGCTGGTCAACGTGTTC -3'
(R):5'- GTGTCGGGTTACCATTCCCTCC -3'

Posted On

2015-09-24