Mutagenetix > Incidental Mutation

Incidental Mutation 'R5339:Sstr5'

423723

Institutional Source

Beutler Lab

Gene Symbol

Sstr5

Ensembl Gene

ENSMUSG00000050824

Gene Name

somatostatin receptor 5

Synonyms

sst5, Smstr5

MMRRC Submission

042918-MU

Accession Numbers

Essential gene?

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

Stock #

R5339 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25708849-25716262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25710173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 352 (E352G)

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: E352G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000051085
Gene: ENSMUSG00000050824
AA Change: E352G

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: E352G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128787
Gene: ENSMUSG00000050824
AA Change: E352G

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (57/59)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	T	10: 10,318,350 (GRCm39)	G158E	probably damaging	Het
Adgrl2	C	T	3: 148,523,480 (GRCm39)	R1256H	probably benign	Het
C3	C	A	17: 57,531,308 (GRCm39)	V329F	probably damaging	Het
Ccdc50	C	T	16: 27,236,055 (GRCm39)	H130Y	probably damaging	Het
Chrna7	A	G	7: 62,749,055 (GRCm39)	S476P	probably damaging	Het
Crtc1	A	T	8: 70,850,383 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,536,494 (GRCm39)	T2137A	possibly damaging	Het
Ehd3	G	A	17: 74,135,202 (GRCm39)	M359I	possibly damaging	Het
Fastkd3	G	A	13: 68,738,283 (GRCm39)	G611R	probably damaging	Het
Foxa2	T	A	2: 147,886,354 (GRCm39)	S154C	probably damaging	Het
Gfm2	T	C	13: 97,311,548 (GRCm39)	I733T	probably benign	Het
Gm1968	T	C	16: 29,781,077 (GRCm39)		noncoding transcript	Het
Gmfg-ps	T	C	6: 4,893,401 (GRCm39)		noncoding transcript	Het
Gzmd	A	T	14: 56,368,140 (GRCm39)	N106K	possibly damaging	Het
Huwe1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	X: 150,690,044 (GRCm39)		probably benign	Het
Ipo5	T	C	14: 121,181,122 (GRCm39)	W883R	probably damaging	Het
Itpr1	T	A	6: 108,370,922 (GRCm39)	V1063D	probably damaging	Het
Kansl3	A	C	1: 36,406,802 (GRCm39)		probably benign	Het
Klkb1	C	A	8: 45,723,748 (GRCm39)	V556F	possibly damaging	Het
Krtap14	C	A	16: 88,622,747 (GRCm39)	R77S	probably benign	Het
Leng8	T	A	7: 4,148,285 (GRCm39)	Y686N	possibly damaging	Het
Mctp1	C	A	13: 76,973,825 (GRCm39)		probably benign	Het
Moxd2	T	C	6: 40,862,354 (GRCm39)	Y155C	probably damaging	Het
Ofcc1	A	G	13: 40,241,321 (GRCm39)	V729A	probably benign	Het
Or2w6	G	A	13: 21,843,404 (GRCm39)	L30F	probably benign	Het
Or4k1	C	A	14: 50,377,759 (GRCm39)	M112I	probably damaging	Het
Or7g27	G	A	9: 19,250,455 (GRCm39)	G233E	possibly damaging	Het
Or8g30	A	T	9: 39,230,599 (GRCm39)	F104I	possibly damaging	Het
Or8g37	T	A	9: 39,731,229 (GRCm39)	M98K	probably damaging	Het
Pdia4	C	T	6: 47,773,619 (GRCm39)	A577T	possibly damaging	Het
Pex5	A	T	6: 124,374,963 (GRCm39)	S629T	probably benign	Het
Pnpla7	T	C	2: 24,892,949 (GRCm39)	S146P	probably benign	Het
Prune2	G	A	19: 17,098,236 (GRCm39)	E1247K	probably damaging	Het
Reg3a	A	G	6: 78,360,522 (GRCm39)		probably null	Het
Snx8	G	A	5: 140,343,905 (GRCm39)	R78C	probably damaging	Het
Svep1	T	C	4: 58,121,892 (GRCm39)	Y767C	possibly damaging	Het
Tbx15	G	A	3: 99,223,600 (GRCm39)	V263M	possibly damaging	Het
Tdrd9	T	C	12: 111,993,556 (GRCm39)	Y695H	probably damaging	Het
Tep1	A	T	14: 51,082,031 (GRCm39)	L1174Q	probably damaging	Het
Tg	T	A	15: 66,549,942 (GRCm39)	Y235N	probably damaging	Het
Tha1	C	A	11: 117,761,908 (GRCm39)	R111L	possibly damaging	Het
Trim17	C	T	11: 58,845,336 (GRCm39)		probably null	Het
Trim72	A	G	7: 127,609,505 (GRCm39)	T436A	probably benign	Het
Uba7	C	T	9: 107,856,065 (GRCm39)	A480V	probably damaging	Het
Ublcp1	A	T	11: 44,346,435 (GRCm39)	S313T	probably benign	Het
Ubqlnl	A	G	7: 103,798,972 (GRCm39)	V175A	probably benign	Het
Vps26a	A	G	10: 62,294,746 (GRCm39)	L276P	probably damaging	Het
Zdhhc21	C	T	4: 82,756,550 (GRCm39)	G110S	probably damaging	Het
Zfp236	T	C	18: 82,642,491 (GRCm39)	E1133G	probably damaging	Het
Zfp800	A	T	6: 28,256,472 (GRCm39)	S39T	probably damaging	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
R5469:Sstr5	UTSW	17	25,711,043 (GRCm39)	missense	probably damaging	1.00
R5865:Sstr5	UTSW	17	25,710,218 (GRCm39)	missense	probably benign	0.30
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'- CTAGCAGAACGTTTTGGTGAGAG -3'
(R):5'- TGCCAATAGCTGTGCCAACC -3'

Sequencing Primer
(F):5'- GATGATCAGTCACCCATGGCTTAG -3'
(R):5'- ATAGCTGTGCCAACCCCCTG -3'

Posted On

2016-08-04