Incidental Mutation 'R4051:Sstr2'
ID 314174
Institutional Source Beutler Lab
Gene Symbol Sstr2
Ensembl Gene ENSMUSG00000047904
Gene Name somatostatin receptor 2
Synonyms Smstr-2, Smstr2, sst2, SSTR-2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.697) question?
Stock # R4051 ()
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 113510168-113516854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 113515482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 134 (T134P)
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: T134P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000068578
Gene: ENSMUSG00000047904
AA Change: T134P

DomainStartEndE-ValueType
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: T134P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102241
Gene: ENSMUSG00000047904
AA Change: T134P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000146390
AA Change: T134P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138101
Gene: ENSMUSG00000047904
AA Change: T134P

DomainStartEndE-ValueType
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 0.9123 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A C 7: 45,635,987 (GRCm39) L1020R probably damaging Het
Ahnak A C 19: 8,991,691 (GRCm39) D4325A probably damaging Het
Chtf18 A G 17: 25,938,168 (GRCm39) V955A probably damaging Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null Het
Disc1 A G 8: 125,875,164 (GRCm39) T547A possibly damaging Het
Eif4b A G 15: 101,995,039 (GRCm39) Y211C probably benign Het
Fli1 T G 9: 32,363,458 (GRCm39) D176A probably benign Het
Hcn2 A C 10: 79,569,521 (GRCm39) probably null Het
Ice1 A G 13: 70,751,646 (GRCm39) V1480A probably damaging Het
Ier5l A C 2: 30,363,324 (GRCm39) S234A probably benign Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Itga11 C T 9: 62,662,933 (GRCm39) Q550* probably null Het
Kdr T A 5: 76,129,068 (GRCm39) M193L probably benign Het
Kif3b G A 2: 153,165,477 (GRCm39) R628Q probably damaging Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Met T C 6: 17,548,728 (GRCm39) V924A possibly damaging Het
Or52m1 T C 7: 102,290,233 (GRCm39) V260A possibly damaging Het
Peg10 T C 6: 4,754,534 (GRCm39) L105P probably benign Het
Phtf1 A G 3: 103,912,824 (GRCm39) T717A possibly damaging Het
Ptafr T C 4: 132,307,305 (GRCm39) W232R probably benign Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
Slamf7 T C 1: 171,464,951 (GRCm39) K261E possibly damaging Het
Slc9c1 T A 16: 45,363,593 (GRCm39) Y120N probably damaging Het
Steap4 A G 5: 8,030,404 (GRCm39) Y420C probably damaging Het
Tbc1d9b T C 11: 50,062,070 (GRCm39) C1210R probably benign Het
Tnfsf10 T A 3: 27,389,503 (GRCm39) I188N probably damaging Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Usp46 T C 5: 74,163,416 (GRCm39) N283S probably benign Het
Vmn2r84 T G 10: 130,226,767 (GRCm39) N357T probably damaging Het
Zfp217 T C 2: 169,954,536 (GRCm39) probably null Het
Other mutations in Sstr2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2510: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
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'- TCATCCTCCGCTATGCCAAG -3'
(R):5'- ATTCGCCTGGCCAGTTGATG -3'

Sequencing Primer
(F):5'- TCCGCTATGCCAAGATGAAG -3'
(R):5'- TGGTACAGCTGCTCCTGC -3'
Posted On 2015-04-30