Mutagenetix > Incidental Mutations

Incidental Mutation 'R2509:Sstr2'

251813

Institutional Source

Beutler Lab

Gene Symbol

Sstr2

Ensembl Gene

ENSMUSG00000047904

Gene Name

somatostatin receptor 2

Synonyms

SSTR-2, Smstr2, Smstr-2, sst2

MMRRC Submission

040415-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.759) question?

Stock #

R2509 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113619342-113626028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113624923 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 223 (I223F)

Ref Sequence

ENSEMBL: ENSMUSP00000138101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067591] [ENSMUST00000106630] [ENSMUST00000125890] [ENSMUST00000136392] [ENSMUST00000146031] [ENSMUST00000146390]

AlphaFold

P30875

Predicted Effect

probably damaging
Transcript: ENSMUST00000067591
AA Change: I223F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068578
Gene: ENSMUSG00000047904
AA Change: I223F

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	51	281	1.1e-10	PFAM
Pfam:7TM_GPCR_Srsx	54	327	1.9e-20	PFAM
Pfam:7tm_1	60	312	2.5e-70	PFAM
Pfam:7TM_GPCR_Srv	118	329	4.9e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106630
AA Change: I223F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102241
Gene: ENSMUSG00000047904
AA Change: I223F

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	51	284	1.3e-10	PFAM
Pfam:7TM_GPCR_Srsx	54	327	1.9e-20	PFAM
Pfam:7tm_1	60	312	1.4e-65	PFAM
Pfam:7TM_GPCR_Srv	119	328	4.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123153

Predicted Effect

probably benign
Transcript: ENSMUST00000125890

SMART Domains

Protein: ENSMUSP00000115472
Gene: ENSMUSG00000041654

Domain	Start	End	E-Value	Type
Pfam:Zip	7	200	3.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136392

Predicted Effect

probably benign
Transcript: ENSMUST00000146031

SMART Domains

Protein: ENSMUSP00000121286
Gene: ENSMUSG00000041654

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000146390
AA Change: I223F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138101
Gene: ENSMUSG00000047904
AA Change: I223F

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	51	284	1.8e-10	PFAM
Pfam:7TM_GPCR_Srsx	54	327	2.4e-20	PFAM
Pfam:7tm_1	60	312	3.1e-70	PFAM
Pfam:7TM_GPCR_Srv	118	329	5.7e-13	PFAM

Meta Mutation Damage Score

0.3193

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (105/109)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a receptor for somatostatin, which acts at many sites to inhibit the release of several hormones and other secretory proteins. The encoded protein is a member of the superfamily of receptors having seven transmembrane segments and is involved in many processes, including adenylyl cyclase inhibition, phosphotyrosine phosphatase stimulation, and inhibition of calcium entry and cell growth. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a null allele show elevated anxiety and locomotor and exploratory deficits. Homozygotes for a reporter allele show altered motor coordination, somatostatin-induced dopamine and glutamate release, retinal rod bipolar cells and EEG patterns, and reduced infarction after focal ischemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,406,453	I497V	probably benign	Het
2010300C02Rik	T	C	1: 37,625,300	M506V	probably benign	Het
4930571K23Rik	C	A	7: 125,369,139		noncoding transcript	Het
Abca17	G	T	17: 24,289,613		probably benign	Het
Ablim1	C	T	19: 57,152,359	R196Q	probably damaging	Het
Acot11	T	C	4: 106,755,319	I379V	possibly damaging	Het
Acot4	G	A	12: 84,041,873	G165D	probably damaging	Het
Agrn	A	T	4: 156,166,424		probably null	Het
Ahctf1	T	C	1: 179,770,693	S945G	possibly damaging	Het
Akr1c13	C	T	13: 4,198,584	R263C	probably damaging	Het
Arfgap1	T	A	2: 180,974,053		probably benign	Het
Arhgef3	A	G	14: 27,379,676	K103R	probably damaging	Het
Cabp1	A	T	5: 115,172,784	N211K	probably damaging	Het
Cacna1c	T	A	6: 118,734,982	D261V	probably damaging	Het
Car11	G	A	7: 45,701,359	G93E	probably damaging	Het
Card10	A	G	15: 78,780,273	I821T	probably benign	Het
Cast	T	C	13: 74,737,616	I277V	probably benign	Het
Cenpj	T	C	14: 56,532,237	K1165R	probably null	Het
Cenpk	A	G	13: 104,234,167		probably null	Het
Cmya5	T	C	13: 93,093,558	Q1674R	probably benign	Het
Cnnm1	T	A	19: 43,441,886	V481D	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cyp2c50	G	A	19: 40,090,569	V119I	probably benign	Het
Dnah7b	A	G	1: 46,195,287	T1460A	probably damaging	Het
Dnah8	G	A	17: 30,775,045	D3379N	probably benign	Het
Dnajc4	C	T	19: 6,990,743	R55H	probably damaging	Het
Ebf4	C	T	2: 130,306,562	R98*	probably null	Het
Epha4	G	A	1: 77,511,702	A47V	possibly damaging	Het
Ercc8	T	C	13: 108,183,717		probably benign	Het
Exo1	T	C	1: 175,905,833	F75S	probably damaging	Het
Fam168a	G	T	7: 100,834,184		probably null	Het
Fat3	G	A	9: 15,925,014	R4065W	possibly damaging	Het
Gm10639	T	A	9: 78,294,807	M1K	probably null	Het
Gm13103	G	A	4: 143,851,991	V274I	probably benign	Het
Gm5431	T	A	11: 48,888,709	N740I	probably benign	Het
Gm5900	T	A	7: 104,950,364		noncoding transcript	Het
Gpi1	A	G	7: 34,205,923	S359P	probably damaging	Het
Gpr156	A	G	16: 37,947,787	R22G	probably benign	Het
Greb1	A	G	12: 16,724,922	V158A	probably damaging	Het
Grin2c	T	A	11: 115,251,068	K842*	probably null	Het
Hnf4a	T	A	2: 163,566,241	L329Q	probably damaging	Het
Hsp90ab1	A	G	17: 45,569,341	L92P	probably damaging	Het
Ido1	T	A	8: 24,584,485	R290*	probably null	Het
Ifnlr1	G	T	4: 135,705,248	D332Y	probably damaging	Het
Ift172	T	C	5: 31,262,968	N1108S	probably benign	Het
Igkv3-9	T	A	6: 70,588,744	M109K	probably benign	Het
Igsf10	T	C	3: 59,331,866	D298G	probably damaging	Het
Iqck	T	G	7: 118,876,282	M98R	probably benign	Het
Klk1b1	T	C	7: 43,969,379	V60A	probably damaging	Het
Krtap1-3	C	T	11: 99,590,827	E165K	unknown	Het
Lair1	A	G	7: 4,010,783	L155P	probably damaging	Het
Mast4	G	T	13: 102,853,842	S57Y	probably damaging	Het
Mical3	T	C	6: 121,034,157	H360R	probably damaging	Het
Muc5b	A	T	7: 141,859,061	N1915Y	unknown	Het
Myh1	A	G	11: 67,205,597	I301V	probably benign	Het
Nck2	T	A	1: 43,554,233	V200E	probably damaging	Het
Olfr10	T	G	11: 49,318,221	L225R	probably damaging	Het
Olfr1214	T	G	2: 88,987,431	Y257S	probably damaging	Het
Olfr1271	T	C	2: 90,265,686	Y248C	possibly damaging	Het
Olfr1282	C	T	2: 111,335,731	V116I	probably damaging	Het
Olfr1313	T	A	2: 112,072,492	L30F	probably benign	Het
Olfr1453	T	A	19: 13,027,694	I212F	probably damaging	Het
Olfr668	G	A	7: 104,925,687	H26Y	probably benign	Het
Olfr870	A	G	9: 20,171,229	L114P	probably damaging	Het
Otoa	C	T	7: 121,160,472	T1099I	probably benign	Het
Pask	T	A	1: 93,330,763	I288F	possibly damaging	Het
Pcnx4	T	C	12: 72,566,972	W564R	probably damaging	Het
Pitpnm2	T	C	5: 124,136,326	E240G	probably damaging	Het
Ppp1r16b	A	G	2: 158,761,463	Y436C	possibly damaging	Het
Prkca	T	C	11: 107,979,206	Y37C	probably damaging	Het
Rad18	T	G	6: 112,675,922	H238P	possibly damaging	Het
Rap1b	T	A	10: 117,818,539	Q1L	probably damaging	Het
Rgs9	T	C	11: 109,268,972	Y178C	probably benign	Het
Rpl3l	A	T	17: 24,732,386	D87V	possibly damaging	Het
Scrn2	T	C	11: 97,033,166	V292A	possibly damaging	Het
Sdad1	A	G	5: 92,305,825	Y35H	probably benign	Het
Sez6l2	T	C	7: 126,953,772	S177P	probably benign	Het
Sh3bp1	C	T	15: 78,911,506	P612S	probably damaging	Het
Shank1	T	C	7: 44,351,724	S956P	unknown	Het
Shank1	G	A	7: 44,352,123	A1089T	unknown	Het
Shprh	G	A	10: 11,166,724	C817Y	probably damaging	Het
Spata22	C	T	11: 73,345,767	P300S	probably damaging	Het
Stom	C	T	2: 35,320,342	A217T	probably damaging	Het
Stpg1	T	C	4: 135,536,649	V341A	probably benign	Het
Tagap	A	G	17: 7,928,754	T99A	probably benign	Het
Tas1r2	A	G	4: 139,659,851	N207S	probably damaging	Het
Thbs2	A	G	17: 14,685,843	V265A	probably benign	Het
Thyn1	A	G	9: 27,000,020	R3G	possibly damaging	Het
Tia1	T	A	6: 86,424,330		probably null	Het
Tktl2	A	G	8: 66,512,852	E354G	probably benign	Het
Tmc8	A	G	11: 117,792,685	T689A	possibly damaging	Het
Tmem11	A	T	11: 60,864,981		probably null	Het
Tmem55b	A	T	14: 50,929,658	Y129*	probably null	Het
Tmem57	A	G	4: 134,804,388	S657P	probably damaging	Het
Tnik	T	C	3: 28,667,915	V1310A	probably damaging	Het
Trappc10	A	G	10: 78,211,523	S380P	possibly damaging	Het
Trim8	C	T	19: 46,515,295	P429S	probably benign	Het
Ttc25	T	G	11: 100,553,535	L222R	probably damaging	Het
Ttn	C	A	2: 76,857,412		probably benign	Het
Ulk2	T	C	11: 61,787,514	Y793C	probably benign	Het
Vill	G	A	9: 119,070,302	V337M	possibly damaging	Het
Vps53	C	A	11: 76,066,835	V364F	possibly damaging	Het
Wdr66	A	G	5: 123,256,106	K353E	probably benign	Het
Zan	A	T	5: 137,456,586	I1396N	unknown	Het
Zfa-ps	A	C	10: 52,544,243		noncoding transcript	Het
Zfp426	T	C	9: 20,470,681	T337A	possibly damaging	Het
Zfp536	T	C	7: 37,567,978	E671G	possibly damaging	Het
Zfp985	A	G	4: 147,582,986	T104A	possibly damaging	Het

Other mutations in Sstr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Sstr2	APN	11	113624995	missense	probably benign	0.22
IGL01555:Sstr2	APN	11	113625619	missense	probably benign	0.32
IGL02173:Sstr2	APN	11	113625016	missense	probably damaging	1.00
IGL02430:Sstr2	APN	11	113624804	missense	probably damaging	0.99
chat	UTSW	11	113624549	missense	probably damaging	1.00
R0125:Sstr2	UTSW	11	113624477	missense	probably damaging	1.00
R0565:Sstr2	UTSW	11	113625619	missense	probably benign	0.32
R1227:Sstr2	UTSW	11	113624885	missense	probably damaging	0.99
R1356:Sstr2	UTSW	11	113624894	missense	probably damaging	1.00
R1992:Sstr2	UTSW	11	113624669	missense	probably benign	0.03
R2504:Sstr2	UTSW	11	113624431	missense	probably damaging	0.98
R2510:Sstr2	UTSW	11	113624923	missense	probably damaging	0.99
R2511:Sstr2	UTSW	11	113624923	missense	probably damaging	0.99
R4051:Sstr2	UTSW	11	113624656	missense	probably damaging	1.00
R4083:Sstr2	UTSW	11	113625245	missense	probably benign	0.05
R4207:Sstr2	UTSW	11	113624656	missense	probably damaging	1.00
R4208:Sstr2	UTSW	11	113624656	missense	probably damaging	1.00
R5666:Sstr2	UTSW	11	113624713	missense	probably damaging	1.00
R6264:Sstr2	UTSW	11	113625106	missense	probably damaging	1.00
R6339:Sstr2	UTSW	11	113624549	missense	probably damaging	1.00
R6443:Sstr2	UTSW	11	113625254	splice site	probably null
R6968:Sstr2	UTSW	11	113624948	missense	probably damaging	1.00
R7146:Sstr2	UTSW	11	113625353	missense	probably damaging	1.00
R7735:Sstr2	UTSW	11	113624597	missense	possibly damaging	0.75
R8057:Sstr2	UTSW	11	113624273	missense	probably benign
R8086:Sstr2	UTSW	11	113625172	missense	probably damaging	1.00
R8087:Sstr2	UTSW	11	113624675	missense	probably damaging	1.00
R9076:Sstr2	UTSW	11	113624351	missense	probably benign	0.00
R9194:Sstr2	UTSW	11	113624377	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CGGACAGCCAAGATGATCAATG -3'
(R):5'- AGTCAAACATGCCTTTCAGGG -3'

Sequencing Primer
(F):5'- CCAAGATGATCAATGTAGCTGTGTG -3'
(R):5'- GGACTGATGGCCACAGACAC -3'

Posted On

2014-12-04