Mutagenetix > Incidental Mutation

Incidental Mutation 'R7578:Sstr3'

586608

Institutional Source

Beutler Lab

Gene Symbol

Sstr3

Ensembl Gene

ENSMUSG00000044933

Gene Name

somatostatin receptor 3

Synonyms

Smstr-3, Smstr3, sst3

MMRRC Submission

045663-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7578 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78421208-78428885 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78424717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 10 (E10G)

Ref Sequence

ENSEMBL: ENSMUSP00000058040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053239] [ENSMUST00000230400]

AlphaFold

P30935

Predicted Effect

probably benign
Transcript: ENSMUST00000053239
AA Change: E10G

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

SMART Domains

Protein: ENSMUSP00000058040
Gene: ENSMUSG00000044933
AA Change: E10G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	53	291	1.9e-8	PFAM
Pfam:7TM_GPCR_Srsx	56	337	3.5e-15	PFAM
Pfam:7tm_1	62	322	6.3e-60	PFAM
Pfam:7TM_GPCR_Srv	121	337	9.5e-8	PFAM
coiled coil region	355	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000230400
AA Change: E10G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the somatostatin receptor protein family. Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This protein is functionally coupled to adenylyl cyclase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,120,343 (GRCm39)	V165E	probably damaging	Het
1700025G04Rik	T	G	1: 151,796,841 (GRCm39)	T75P	probably benign	Het
4930516K23Rik	T	C	7: 103,708,104 (GRCm39)	E235G	probably benign	Het
Adam15	A	G	3: 89,251,499 (GRCm39)	C449R	probably damaging	Het
Adam24	T	C	8: 41,133,294 (GRCm39)	V254A	probably benign	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Aldh1a1	A	C	19: 20,595,366 (GRCm39)	R98S	probably damaging	Het
Alg9	A	G	9: 50,700,835 (GRCm39)	I202V	probably benign	Het
Anks1b	G	A	10: 89,885,789 (GRCm39)	E162K	probably damaging	Het
Atp6v1b2	A	G	8: 69,556,128 (GRCm39)	T268A	probably benign	Het
Atxn1	C	T	13: 45,720,834 (GRCm39)	V354I	probably benign	Het
B3galt1	A	G	2: 67,948,896 (GRCm39)	T204A	probably damaging	Het
Catsperb	T	A	12: 101,554,544 (GRCm39)	I746K	probably benign	Het
Cdh23	G	A	10: 60,243,186 (GRCm39)	T1063M	probably benign	Het
Cherp	G	A	8: 73,218,102 (GRCm39)	R543C		Het
Cldn20	A	G	17: 3,583,274 (GRCm39)	D149G	probably damaging	Het
Clk2	A	G	3: 89,083,807 (GRCm39)	Q474R	probably benign	Het
Cp	A	G	3: 20,043,262 (GRCm39)	T1017A	possibly damaging	Het
Cyp2c39	T	C	19: 39,499,400 (GRCm39)	L29P	probably damaging	Het
Ebf3	C	T	7: 136,915,261 (GRCm39)	V93M	probably damaging	Het
Eef1akmt1	T	A	14: 57,787,328 (GRCm39)	M183L	probably damaging	Het
Fhip1a	G	T	3: 85,573,205 (GRCm39)	L915I	probably damaging	Het
Filip1l	A	G	16: 57,333,645 (GRCm39)	E146G	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,293 (GRCm39)	S283G	possibly damaging	Het
Fras1	A	T	5: 96,832,296 (GRCm39)	Y1543F	probably damaging	Het
Garin2	T	C	12: 78,762,275 (GRCm39)		probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gjd3	A	G	11: 98,873,301 (GRCm39)	V181A	probably damaging	Het
Gm49368	T	A	7: 127,711,430 (GRCm39)	C711*	probably null	Het
Gtf3c2	A	G	5: 31,330,341 (GRCm39)	S210P	probably benign	Het
Herc2	A	G	7: 55,784,548 (GRCm39)	Y1404C	probably benign	Het
Il22ra2	T	A	10: 19,507,372 (GRCm39)	D128E	probably benign	Het
Itgav	T	A	2: 83,578,219 (GRCm39)	D113E	probably benign	Het
Kcnd3	A	G	3: 105,366,933 (GRCm39)	M268V	probably benign	Het
Kirrel3	G	T	9: 34,850,408 (GRCm39)	G19V	probably damaging	Het
Klf17	T	G	4: 117,617,916 (GRCm39)	Y147S	possibly damaging	Het
Leng1	C	T	7: 3,668,382 (GRCm39)	R22H	probably damaging	Het
Lysmd4	T	A	7: 66,876,037 (GRCm39)	Y233*	probably null	Het
Lyzl6	A	G	11: 103,525,832 (GRCm39)	V96A	probably benign	Het
Mki67	T	C	7: 135,302,644 (GRCm39)	T797A	possibly damaging	Het
Nuf2	G	T	1: 169,332,097 (GRCm39)	H399Q	probably benign	Het
Nuggc	T	C	14: 65,885,623 (GRCm39)	V766A	probably damaging	Het
Oas1c	A	T	5: 120,940,244 (GRCm39)	D307E	probably damaging	Het
Odad2	A	T	18: 7,211,593 (GRCm39)	D760E	probably benign	Het
Or10aa3	T	A	1: 173,878,266 (GRCm39)	M109K	possibly damaging	Het
Or6c5b	T	C	10: 129,245,544 (GRCm39)	I103T	probably damaging	Het
P4ha3	T	C	7: 99,943,121 (GRCm39)	Y169H	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,417,585 (GRCm39)	D2522G	probably damaging	Het
Prickle2	T	C	6: 92,388,271 (GRCm39)	D433G	probably benign	Het
Ptcd3	A	G	6: 71,885,691 (GRCm39)	S12P	probably benign	Het
Ptpn23	T	A	9: 110,216,676 (GRCm39)	Q1060L	probably benign	Het
Rai14	G	T	15: 10,574,914 (GRCm39)	N710K	probably benign	Het
Rai14	C	T	15: 10,593,189 (GRCm39)	G152R	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Satb2	A	G	1: 56,910,943 (GRCm39)	V234A	probably benign	Het
Scg2	T	C	1: 79,414,612 (GRCm39)	Q37R	probably damaging	Het
Slc35e3	A	T	10: 117,576,484 (GRCm39)	S230T	probably damaging	Het
Slc39a2	T	C	14: 52,132,873 (GRCm39)	V272A	probably damaging	Het
Smg7	T	A	1: 152,721,181 (GRCm39)	Y677F	probably damaging	Het
Spinkl	A	G	18: 44,301,213 (GRCm39)	Y42H	probably damaging	Het
Srsf6	T	C	2: 162,774,782 (GRCm39)	F102L	probably benign	Het
Tekt3	A	T	11: 62,985,486 (GRCm39)	I431F	probably damaging	Het
Trio	C	T	15: 27,855,025 (GRCm39)	R778H	possibly damaging	Het
Ush2a	T	A	1: 188,282,110 (GRCm39)	V1875D	probably damaging	Het
Vmn2r29	A	C	7: 7,234,441 (GRCm39)	I815S	probably damaging	Het
Vmn2r78	A	T	7: 86,603,552 (GRCm39)	K577*	probably null	Het
Vps26c	A	C	16: 94,299,928 (GRCm39)	N275K	probably damaging	Het
Yes1	G	A	5: 32,802,430 (GRCm39)	R115Q	probably benign	Het

Other mutations in Sstr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Sstr3	APN	15	78,424,667 (GRCm39)	missense	probably benign	0.00
R0442:Sstr3	UTSW	15	78,424,597 (GRCm39)	missense	probably damaging	0.99
R1714:Sstr3	UTSW	15	78,424,473 (GRCm39)	missense	probably damaging	1.00
R1865:Sstr3	UTSW	15	78,424,168 (GRCm39)	missense	probably damaging	1.00
R2008:Sstr3	UTSW	15	78,424,711 (GRCm39)	missense	probably benign	0.14
R2351:Sstr3	UTSW	15	78,424,121 (GRCm39)	missense	probably benign	0.01
R3023:Sstr3	UTSW	15	78,424,187 (GRCm39)	missense	probably damaging	0.99
R3024:Sstr3	UTSW	15	78,424,187 (GRCm39)	missense	probably damaging	0.99
R3770:Sstr3	UTSW	15	78,424,577 (GRCm39)	missense	probably damaging	1.00
R4399:Sstr3	UTSW	15	78,424,324 (GRCm39)	missense	probably damaging	1.00
R4724:Sstr3	UTSW	15	78,423,897 (GRCm39)	nonsense	probably null
R6181:Sstr3	UTSW	15	78,423,661 (GRCm39)	missense	probably benign
R6247:Sstr3	UTSW	15	78,423,788 (GRCm39)	missense	probably damaging	0.99
R7450:Sstr3	UTSW	15	78,424,043 (GRCm39)	missense	probably damaging	1.00
R7793:Sstr3	UTSW	15	78,424,588 (GRCm39)	missense	probably damaging	1.00
R8336:Sstr3	UTSW	15	78,424,693 (GRCm39)	missense	probably damaging	1.00
R9263:Sstr3	UTSW	15	78,423,792 (GRCm39)	missense	probably damaging	1.00
R9264:Sstr3	UTSW	15	78,423,792 (GRCm39)	missense	probably damaging	1.00
R9265:Sstr3	UTSW	15	78,423,792 (GRCm39)	missense	probably damaging	1.00
X0026:Sstr3	UTSW	15	78,423,574 (GRCm39)	missense	possibly damaging	0.57
Z1177:Sstr3	UTSW	15	78,423,503 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TATAGACACTGGTCACTGATGGG -3'
(R):5'- GGCTCTGAGTTGGCACATAG -3'

Sequencing Primer
(F):5'- TCACTGATGGGCTGGACG -3'
(R):5'- GGCACATAGTAGGTCTCTAAGTTC -3'

Posted On

2019-10-24