Mutagenetix > Incidental Mutation

Incidental Mutation 'R5865:Sstr5'

454146

Institutional Source

Beutler Lab

Gene Symbol

Sstr5

Ensembl Gene

ENSMUSG00000050824

Gene Name

somatostatin receptor 5

Synonyms

sst5, Smstr5

MMRRC Submission

044074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R5865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25708849-25716262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25710218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 337 (D337V)

Ref Sequence

ENSEMBL: ENSMUSP00000128787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051864] [ENSMUST00000165183]

AlphaFold

O08858

Predicted Effect

probably benign
Transcript: ENSMUST00000051864
AA Change: D337V

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000051085
Gene: ENSMUSG00000050824
AA Change: D337V

Domain	Start	End	E-Value	Type
low complexity region	11	25	N/A	INTRINSIC
Pfam:7TM_GPCR_Srv	44	320	1.3e-9	PFAM
Pfam:7TM_GPCR_Srx	45	317	5.5e-10	PFAM
Pfam:7TM_GPCR_Srsx	48	318	1.3e-19	PFAM
Pfam:7tm_1	54	303	3.1e-64	PFAM
Pfam:7TM_GPCR_Srw	195	321	1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165183
AA Change: D337V

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128787
Gene: ENSMUSG00000050824
AA Change: D337V

Domain	Start	End	E-Value	Type
low complexity region	11	25	N/A	INTRINSIC
Pfam:7TM_GPCR_Srv	44	320	1.9e-9	PFAM
Pfam:7TM_GPCR_Srx	45	317	3.5e-10	PFAM
Pfam:7TM_GPCR_Srsx	48	318	1.3e-19	PFAM
Pfam:7tm_1	54	303	1.9e-71	PFAM
Pfam:7TM_GPCR_Srw	195	321	1e-8	PFAM

Meta Mutation Damage Score

0.0730

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 96.7%
20x: 88.7%

Validation Efficiency

91% (59/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Somatostatin and its related peptide cortistatin exert multiple biological actions on normal and tumoral tissue targets by interacting with somatostatin receptors (SSTRs). The protein encoded by this gene is one of the SSTRs, which is a multi-pass membrane protein and belongs to the G-protein coupled receptor 1 family. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase, and different regions of this receptor molecule are required for the activation of different signaling pathways. A mutation in this gene results in somatostatin analog resistance. Alternatively spliced transcript variants have been identified in this gene.[provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygotes for one null allele display decreased numbers of insulin positive cells in the pancreas. Homozygotes for a second null allele have normal pancreatic islet morphology but increased insulin secretion, decreased blood insulin and glucose levels,and improved glucose tolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	A	3: 32,766,277 (GRCm39)	V48M	possibly damaging	Het
Adamts2	T	G	11: 50,694,781 (GRCm39)	Y1189*	probably null	Het
Bpifb9a	T	C	2: 154,108,756 (GRCm39)	I419T	probably benign	Het
Ccbe1	A	T	18: 66,216,222 (GRCm39)	I167N	possibly damaging	Het
Ccdc187	T	C	2: 26,183,380 (GRCm39)	T207A	probably benign	Het
Cd300lf	G	A	11: 115,017,126 (GRCm39)	L66F	probably damaging	Het
Cenpk	A	G	13: 104,372,702 (GRCm39)	*92W	probably null	Het
Col12a1	A	T	9: 79,511,760 (GRCm39)	S2950R	probably benign	Het
Dnah3	T	C	7: 119,574,331 (GRCm39)	T2154A	probably benign	Het
Ebna1bp2	A	T	4: 118,478,332 (GRCm39)		probably benign	Het
Elac2	G	T	11: 64,888,783 (GRCm39)	C532F	probably benign	Het
Fam171a1	T	A	2: 3,226,374 (GRCm39)	D377E	probably benign	Het
Haus6	A	G	4: 86,504,594 (GRCm39)	C466R	possibly damaging	Het
Il4ra	T	C	7: 125,174,348 (GRCm39)	S297P	probably benign	Het
Itgb4	C	T	11: 115,881,748 (GRCm39)	R766W	probably damaging	Het
Kank4	T	C	4: 98,659,630 (GRCm39)	Y816C	possibly damaging	Het
Kcnc4	A	T	3: 107,365,515 (GRCm39)		probably null	Het
Kif21b	C	T	1: 136,078,875 (GRCm39)	R408*	probably null	Het
Lrrc31	A	G	3: 30,733,289 (GRCm39)	V475A	probably benign	Het
Map2k1	C	T	9: 64,098,548 (GRCm39)		probably null	Het
Mc3r	T	A	2: 172,091,592 (GRCm39)	N271K	possibly damaging	Het
Ms4a14	A	G	19: 11,281,581 (GRCm39)	S326P	possibly damaging	Het
Muc6	T	A	7: 141,236,769 (GRCm39)	I358F	probably damaging	Het
Myo5c	A	G	9: 75,204,770 (GRCm39)	D1541G	probably damaging	Het
Myof	T	C	19: 37,899,382 (GRCm39)	S1793G	probably damaging	Het
Nfkb1	T	A	3: 135,309,541 (GRCm39)	T518S	probably damaging	Het
Nphs1	T	A	7: 30,173,810 (GRCm39)	I989N	probably damaging	Het
Or5m12	T	C	2: 85,734,865 (GRCm39)	T178A	probably benign	Het
Pcdha5	T	C	18: 37,094,474 (GRCm39)	F328L	probably benign	Het
Pclo	T	A	5: 14,764,492 (GRCm39)	S4322T	probably benign	Het
Peg10	A	G	6: 4,754,375 (GRCm39)	N52S	probably damaging	Het
Phf10	A	C	17: 15,175,272 (GRCm39)		probably benign	Het
Pip4p1	A	G	14: 51,166,332 (GRCm39)		probably benign	Het
Psme4	T	C	11: 30,741,993 (GRCm39)	I152T	possibly damaging	Het
Ptpn18	T	A	1: 34,510,644 (GRCm39)		probably benign	Het
Rufy4	A	T	1: 74,185,914 (GRCm39)	Y527F	probably damaging	Het
Snx32	T	C	19: 5,546,382 (GRCm39)	M293V	probably benign	Het
Sorl1	A	T	9: 41,894,330 (GRCm39)	L1827M	possibly damaging	Het
Tcaf3	A	G	6: 42,573,631 (GRCm39)	F194L	probably benign	Het
Tcerg1	T	A	18: 42,669,413 (GRCm39)	W459R	probably damaging	Het
Tet2	T	A	3: 133,192,860 (GRCm39)	I525L	probably benign	Het
Trim43b	C	T	9: 88,967,659 (GRCm39)	V325I	probably benign	Het
Txndc11	A	T	16: 10,940,552 (GRCm39)	I180K	probably damaging	Het
Vmn1r193	A	G	13: 22,403,395 (GRCm39)	L199P	probably damaging	Het
Vmn2r110	A	G	17: 20,804,557 (GRCm39)	M121T	probably benign	Het
Zfhx4	G	C	3: 5,467,719 (GRCm39)	A2626P	probably damaging	Het
Zfp445	C	T	9: 122,682,552 (GRCm39)	S463N	probably benign	Het
Zwilch	T	A	9: 64,080,190 (GRCm39)		probably null	Het

Other mutations in Sstr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01532:Sstr5	APN	17	25,710,305 (GRCm39)	missense	probably damaging	1.00
IGL01738:Sstr5	APN	17	25,710,584 (GRCm39)	missense	probably damaging	1.00
IGL02212:Sstr5	APN	17	25,710,647 (GRCm39)	missense	possibly damaging	0.93
IGL03098:Sstr5	UTSW	17	25,710,251 (GRCm39)	missense	probably benign	0.00
R0402:Sstr5	UTSW	17	25,711,008 (GRCm39)	missense	probably benign	0.15
R1576:Sstr5	UTSW	17	25,710,272 (GRCm39)	missense	possibly damaging	0.94
R2354:Sstr5	UTSW	17	25,710,875 (GRCm39)	missense	probably benign	0.29
R4392:Sstr5	UTSW	17	25,710,198 (GRCm39)	missense	probably benign
R5339:Sstr5	UTSW	17	25,710,173 (GRCm39)	missense	probably benign	0.00
R5469:Sstr5	UTSW	17	25,711,043 (GRCm39)	missense	probably damaging	1.00
R9163:Sstr5	UTSW	17	25,710,584 (GRCm39)	missense	probably damaging	1.00
R9469:Sstr5	UTSW	17	25,710,941 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGGAGTCCAACTTATAGGCC -3'
(R):5'- ATCGTCAACCTGGCCTTCAC -3'

Sequencing Primer
(F):5'- AGTCCAACTTATAGGCCTGGGG -3'
(R):5'- TTCACGCTACCCGAGGAG -3'

Posted On

2017-02-10