Mutagenetix > Incidental Mutation

Incidental Mutation 'R4392:Sstr5'

326439

Institutional Source

Beutler Lab

Gene Symbol

Sstr5

Ensembl Gene

ENSMUSG00000050824

Gene Name

somatostatin receptor 5

Synonyms

sst5, Smstr5

MMRRC Submission

041127-MU

Accession Numbers

Essential gene?

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

Stock #

R4392 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

25708849-25716262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25710198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 344 (T344A)

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: T344A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051085
Gene: ENSMUSG00000050824
AA Change: T344A

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: T344A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128787
Gene: ENSMUSG00000050824
AA Change: T344A

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

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 96.1%
20x: 90.5%

Validation Efficiency

95% (69/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	C	T	14: 54,822,435 (GRCm39)		probably null	Het
Abca13	A	C	11: 9,259,034 (GRCm39)	K2920T	possibly damaging	Het
Amy2b	T	G	3: 113,056,724 (GRCm39)		noncoding transcript	Het
Anapc1	T	C	2: 128,518,169 (GRCm39)		probably null	Het
Bmp7	T	G	2: 172,758,335 (GRCm39)	D178A	probably benign	Het
Brsk1	T	A	7: 4,701,749 (GRCm39)	I170N	probably damaging	Het
Bub3	C	T	7: 131,168,064 (GRCm39)	A187V	probably benign	Het
Cacna2d2	A	G	9: 107,277,479 (GRCm39)	H71R	possibly damaging	Het
Cdrt4	A	T	11: 62,842,179 (GRCm39)	K20N	probably benign	Het
Clec12a	A	T	6: 129,330,427 (GRCm39)		probably benign	Het
Col12a1	T	A	9: 79,569,770 (GRCm39)	Y1600F	probably damaging	Het
Cyp2a12	T	A	7: 26,728,700 (GRCm39)	I57N	probably damaging	Het
Dip2b	T	C	15: 100,059,917 (GRCm39)	L223P	probably damaging	Het
Dnah5	G	A	15: 28,289,375 (GRCm39)	R1188H	probably benign	Het
Dop1a	T	C	9: 86,385,196 (GRCm39)		probably benign	Het
Efcab5	T	A	11: 76,981,284 (GRCm39)	N1354I	probably damaging	Het
Eif4b	T	A	15: 101,995,076 (GRCm39)		probably null	Het
Erlec1	A	G	11: 30,893,697 (GRCm39)		probably null	Het
Esp24	T	C	17: 39,350,968 (GRCm39)		probably benign	Het
Esp34	T	C	17: 38,870,382 (GRCm39)	V24A	possibly damaging	Het
Fbxw15	T	A	9: 109,397,300 (GRCm39)		probably benign	Het
Foxc2	T	C	8: 121,844,191 (GRCm39)	S280P	probably damaging	Het
Gm21738	G	C	14: 19,417,178 (GRCm38)	L117V	probably benign	Het
Grk3	A	G	5: 113,068,002 (GRCm39)	F467S	probably damaging	Het
Grwd1	C	T	7: 45,477,204 (GRCm39)	G228S	probably damaging	Het
Gtf2i	T	C	5: 134,289,483 (GRCm39)	E399G	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Ift56	A	G	6: 38,358,492 (GRCm39)		probably benign	Het
Lhx4	A	G	1: 155,585,880 (GRCm39)	Y83H	probably damaging	Het
Mdga1	T	C	17: 30,069,630 (GRCm39)	T413A	probably damaging	Het
Mideas	A	T	12: 84,219,885 (GRCm39)	D356E	probably benign	Het
Mmrn2	T	A	14: 34,119,573 (GRCm39)	L184H	probably damaging	Het
Mroh2a	C	T	1: 88,187,311 (GRCm39)	R133C	probably damaging	Het
Myh13	A	C	11: 67,235,707 (GRCm39)		probably null	Het
Nkain3	C	A	4: 20,282,985 (GRCm39)	R116L	possibly damaging	Het
Nxph2	A	C	2: 23,290,284 (GRCm39)	Q212P	probably damaging	Het
Or4f7d-ps1	T	C	2: 111,674,690 (GRCm39)		noncoding transcript	Het
Or4k15c	A	G	14: 50,322,060 (GRCm39)	F26S	probably benign	Het
Otog	T	C	7: 45,934,548 (GRCm39)	Y1369H	probably damaging	Het
Prl	A	G	13: 27,248,334 (GRCm39)	I131V	possibly damaging	Het
Ptprg	A	T	14: 12,142,467 (GRCm38)	I373F	possibly damaging	Het
Rad18	A	T	6: 112,670,490 (GRCm39)	C25S	probably damaging	Het
Rgs12	A	G	5: 35,189,655 (GRCm39)	T678A	probably damaging	Het
Scaper	T	A	9: 55,765,399 (GRCm39)	E557V	probably damaging	Het
Scube3	C	T	17: 28,383,762 (GRCm39)	P511L	probably null	Het
Sgpl1	A	G	10: 60,940,231 (GRCm39)		probably benign	Het
Slc10a1	C	A	12: 81,014,578 (GRCm39)	E47D	probably damaging	Het
Sptbn4	T	C	7: 27,117,896 (GRCm39)	N369S	probably damaging	Het
Tgm4	C	T	9: 122,895,817 (GRCm39)	T631I	probably benign	Het
Tmprss15	A	G	16: 78,821,326 (GRCm39)	Y457H	probably damaging	Het
Trpm7	A	T	2: 126,637,429 (GRCm39)		probably null	Het
Trpm7	A	T	2: 126,690,458 (GRCm39)	W207R	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Usp2	A	T	9: 44,002,556 (GRCm39)	H384L	probably damaging	Het
Vmn2r27	C	T	6: 124,207,135 (GRCm39)	V169I	probably benign	Het
Vopp1	A	C	6: 57,739,461 (GRCm39)	F29C	probably damaging	Het
Wrn	T	C	8: 33,741,860 (GRCm39)	D953G	probably damaging	Het
Zfp759	T	A	13: 67,287,707 (GRCm39)	C419*	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
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
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

Posted On

2015-07-06