Mutagenetix > Incidental Mutation

Incidental Mutation 'R2510:Sstr2'

252006

Institutional Source

Beutler Lab

Gene Symbol

Sstr2

Ensembl Gene

ENSMUSG00000047904

Gene Name

somatostatin receptor 2

Synonyms

Smstr-2, Smstr2, sst2, SSTR-2

MMRRC Submission

040416-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.697) question?

Stock #

R2510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113510168-113516854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113515749 bp (GRCm39)

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: 97.3%
20x: 94.9%

Validation Efficiency

99% (77/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930571K23Rik	C	A	7: 124,968,311 (GRCm39)		noncoding transcript	Het
Adra1d	C	A	2: 131,404,055 (GRCm39)	E12*	probably null	Het
Ago4	A	T	4: 126,410,864 (GRCm39)	D208E	probably damaging	Het
Agrn	A	T	4: 156,250,881 (GRCm39)		probably null	Het
Atxn2	C	T	5: 121,919,456 (GRCm39)	S388L	probably damaging	Het
Bbox1	A	T	2: 110,135,976 (GRCm39)	M1K	probably null	Het
Btaf1	G	A	19: 36,979,845 (GRCm39)	R1538H	probably benign	Het
Car11	G	A	7: 45,350,783 (GRCm39)	G93E	probably damaging	Het
Col18a1	A	G	10: 76,932,102 (GRCm39)	L329P	unknown	Het
Copb2	T	A	9: 98,453,701 (GRCm39)		probably benign	Het
Cracdl	T	C	1: 37,664,381 (GRCm39)	M506V	probably benign	Het
Dnah2	G	T	11: 69,415,032 (GRCm39)	S234*	probably null	Het
Dnah9	T	C	11: 65,895,995 (GRCm39)	Y2460C	probably damaging	Het
Dnai2	G	C	11: 114,647,993 (GRCm39)		probably benign	Het
Dst	C	A	1: 34,251,367 (GRCm39)	T1814K	probably benign	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Fancm	A	T	12: 65,160,544 (GRCm39)		probably benign	Het
Fsip2	T	C	2: 82,816,782 (GRCm39)	S4172P	probably benign	Het
G530012D18Rik	T	G	1: 85,504,925 (GRCm39)		probably benign	Het
Gca	T	G	2: 62,520,318 (GRCm39)	S159R	probably damaging	Het
Gja8	T	G	3: 96,827,033 (GRCm39)	T210P	probably damaging	Het
Gm5117	T	A	8: 32,228,383 (GRCm39)		noncoding transcript	Het
Gm5900	T	A	7: 104,599,571 (GRCm39)		noncoding transcript	Het
Gpi1	A	G	7: 33,905,348 (GRCm39)	S359P	probably damaging	Het
Grm5	A	G	7: 87,685,299 (GRCm39)	E472G	probably benign	Het
Gsta5	T	A	9: 78,202,089 (GRCm39)	M1K	probably null	Het
Hoxd12	G	A	2: 74,505,815 (GRCm39)	A129T	possibly damaging	Het
Ifnlr1	G	T	4: 135,432,559 (GRCm39)	D332Y	probably damaging	Het
Ift140	T	C	17: 25,255,282 (GRCm39)	I466T	probably benign	Het
Kansl2	A	G	15: 98,426,742 (GRCm39)		probably null	Het
Kat2a	T	C	11: 100,602,968 (GRCm39)	Q88R	probably benign	Het
Kcnh7	T	C	2: 62,552,261 (GRCm39)	D910G	probably benign	Het
Klk1b1	T	C	7: 43,618,803 (GRCm39)	V60A	probably damaging	Het
Krt7	A	C	15: 101,310,538 (GRCm39)	I62L	probably benign	Het
Llgl1	A	G	11: 60,600,862 (GRCm39)	K653E	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Maco1	A	G	4: 134,531,699 (GRCm39)	S657P	probably damaging	Het
Mafb	T	G	2: 160,208,496 (GRCm39)	E34A	probably damaging	Het
Meiob	T	C	17: 25,035,571 (GRCm39)		probably benign	Het
Mllt10	C	A	2: 18,069,935 (GRCm39)	D30E	possibly damaging	Het
Mprip	T	A	11: 59,640,334 (GRCm39)		probably benign	Het
Muc5b	A	T	7: 141,412,798 (GRCm39)	N1915Y	unknown	Het
Mycbp2	C	T	14: 103,392,691 (GRCm39)	R3290Q	probably damaging	Het
Ntaq1	C	A	15: 58,017,020 (GRCm39)	A145D	probably damaging	Het
Obscn	G	A	11: 58,933,140 (GRCm39)		probably benign	Het
Olfm3	T	A	3: 114,915,959 (GRCm39)	V277D	probably damaging	Het
Omp	A	T	7: 97,794,552 (GRCm39)	M25K	possibly damaging	Het
Or10d4b	T	A	9: 39,534,727 (GRCm39)	F101I	probably damaging	Het
Or4b12	C	T	2: 90,095,950 (GRCm39)	V275I	probably damaging	Het
Or4k40	G	A	2: 111,250,796 (GRCm39)	P167S	possibly damaging	Het
Or52n2c	G	A	7: 104,574,894 (GRCm39)	H26Y	probably benign	Het
Otoa	C	T	7: 120,759,695 (GRCm39)	T1099I	probably benign	Het
Pcdh15	T	G	10: 74,467,331 (GRCm39)	S1715A	probably benign	Het
Pcnx4	T	C	12: 72,613,746 (GRCm39)	W564R	probably damaging	Het
Pde12	T	C	14: 26,386,681 (GRCm39)	*609W	probably null	Het
Pitpnm2	T	C	5: 124,274,389 (GRCm39)	E240G	probably damaging	Het
Plppr4	G	T	3: 117,125,355 (GRCm39)	N161K	probably damaging	Het
Ppp1r37	T	C	7: 19,266,357 (GRCm39)	K470E	possibly damaging	Het
Pramel27	G	A	4: 143,578,561 (GRCm39)	V274I	probably benign	Het
Ptprd	C	A	4: 76,004,248 (GRCm39)		probably null	Het
Rgs9	T	C	11: 109,159,798 (GRCm39)	Y178C	probably benign	Het
Rims2	T	G	15: 39,449,048 (GRCm39)	S1217R	probably damaging	Het
Rorc	C	T	3: 94,296,427 (GRCm39)	T208I	probably benign	Het
Ryr3	C	T	2: 112,506,249 (GRCm39)	E3458K	probably benign	Het
Scn5a	A	T	9: 119,362,751 (GRCm39)	V623E	probably benign	Het
Slc28a2	C	T	2: 122,281,497 (GRCm39)	Q229*	probably null	Het
Slc35f3	C	T	8: 127,025,445 (GRCm39)		probably benign	Het
Spg11	T	G	2: 121,905,791 (GRCm39)	I1285L	probably benign	Het
Susd1	A	T	4: 59,349,855 (GRCm39)	V527E	possibly damaging	Het
Tas1r2	A	G	4: 139,387,162 (GRCm39)	N207S	probably damaging	Het
Trappc10	A	G	10: 78,047,357 (GRCm39)	S380P	possibly damaging	Het
Ttn	T	C	2: 76,571,336 (GRCm39)	D26519G	probably damaging	Het
Vmn1r215	A	G	13: 23,260,343 (GRCm39)	I128V	probably benign	Het
Vmn1r37	T	C	6: 66,708,935 (GRCm39)	L150P	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r52	G	T	7: 9,904,795 (GRCm39)	A348E	probably benign	Het
Ypel5	T	C	17: 73,153,386 (GRCm39)	L30P	probably damaging	Het
Zfp985	A	G	4: 147,667,443 (GRCm39)	T104A	possibly damaging	Het

Other mutations in Sstr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Sstr2	APN	11	113,515,821 (GRCm39)	missense	probably benign	0.22
IGL01555:Sstr2	APN	11	113,516,445 (GRCm39)	missense	probably benign	0.32
IGL02173:Sstr2	APN	11	113,515,842 (GRCm39)	missense	probably damaging	1.00
IGL02430:Sstr2	APN	11	113,515,630 (GRCm39)	missense	probably damaging	0.99
chat	UTSW	11	113,515,375 (GRCm39)	missense	probably damaging	1.00
R0125:Sstr2	UTSW	11	113,515,303 (GRCm39)	missense	probably damaging	1.00
R0565:Sstr2	UTSW	11	113,516,445 (GRCm39)	missense	probably benign	0.32
R1227:Sstr2	UTSW	11	113,515,711 (GRCm39)	missense	probably damaging	0.99
R1356:Sstr2	UTSW	11	113,515,720 (GRCm39)	missense	probably damaging	1.00
R1992:Sstr2	UTSW	11	113,515,495 (GRCm39)	missense	probably benign	0.03
R2504:Sstr2	UTSW	11	113,515,257 (GRCm39)	missense	probably damaging	0.98
R2509:Sstr2	UTSW	11	113,515,749 (GRCm39)	missense	probably damaging	0.99
R2511:Sstr2	UTSW	11	113,515,749 (GRCm39)	missense	probably damaging	0.99
R4051:Sstr2	UTSW	11	113,515,482 (GRCm39)	missense	probably damaging	1.00
R4083:Sstr2	UTSW	11	113,516,071 (GRCm39)	missense	probably benign	0.05
R4207:Sstr2	UTSW	11	113,515,482 (GRCm39)	missense	probably damaging	1.00
R4208:Sstr2	UTSW	11	113,515,482 (GRCm39)	missense	probably damaging	1.00
R5666:Sstr2	UTSW	11	113,515,539 (GRCm39)	missense	probably damaging	1.00
R6264:Sstr2	UTSW	11	113,515,932 (GRCm39)	missense	probably damaging	1.00
R6339:Sstr2	UTSW	11	113,515,375 (GRCm39)	missense	probably damaging	1.00
R6443:Sstr2	UTSW	11	113,516,080 (GRCm39)	splice site	probably null
R6968:Sstr2	UTSW	11	113,515,774 (GRCm39)	missense	probably damaging	1.00
R7146:Sstr2	UTSW	11	113,516,179 (GRCm39)	missense	probably damaging	1.00
R7735:Sstr2	UTSW	11	113,515,423 (GRCm39)	missense	possibly damaging	0.75
R8057:Sstr2	UTSW	11	113,515,099 (GRCm39)	missense	probably benign
R8086:Sstr2	UTSW	11	113,515,998 (GRCm39)	missense	probably damaging	1.00
R8087:Sstr2	UTSW	11	113,515,501 (GRCm39)	missense	probably damaging	1.00
R9076:Sstr2	UTSW	11	113,515,177 (GRCm39)	missense	probably benign	0.00
R9194:Sstr2	UTSW	11	113,515,203 (GRCm39)	missense	probably benign	0.03
R9572:Sstr2	UTSW	11	113,516,017 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2014-12-04