Incidental Mutation 'R4729:Strn'
ID 358722
Institutional Source Beutler Lab
Gene Symbol Strn
Ensembl Gene ENSMUSG00000024077
Gene Name striatin, calmodulin binding protein
Synonyms
MMRRC Submission 041603-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R4729 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 78957327-79043990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78965390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 634 (F634S)
Ref Sequence ENSEMBL: ENSMUSP00000120830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024881] [ENSMUST00000145910]
AlphaFold O55106
Predicted Effect possibly damaging
Transcript: ENSMUST00000024881
AA Change: F481S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024881
Gene: ENSMUSG00000024077
AA Change: F481S

DomainStartEndE-ValueType
low complexity region 85 101 N/A INTRINSIC
low complexity region 178 195 N/A INTRINSIC
low complexity region 223 231 N/A INTRINSIC
low complexity region 259 276 N/A INTRINSIC
WD40 299 338 6.04e-8 SMART
WD40 352 391 2.42e-7 SMART
WD40 405 444 1.21e-7 SMART
WD40 493 539 1.28e1 SMART
WD40 542 581 4.4e-10 SMART
WD40 584 627 2.48e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000145910
AA Change: F634S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120830
Gene: ENSMUSG00000024077
AA Change: F634S

DomainStartEndE-ValueType
low complexity region 17 45 N/A INTRINSIC
Pfam:Striatin 48 177 4.2e-50 PFAM
low complexity region 238 254 N/A INTRINSIC
low complexity region 331 348 N/A INTRINSIC
low complexity region 376 384 N/A INTRINSIC
low complexity region 412 429 N/A INTRINSIC
WD40 452 491 6.04e-8 SMART
WD40 505 544 2.42e-7 SMART
WD40 558 597 1.21e-7 SMART
WD40 646 692 1.28e1 SMART
WD40 695 734 4.4e-10 SMART
WD40 737 780 2.48e-4 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice heterozygous for a knock-out allele exhibit increased blood pressure and circulating aldosterone when fed a liberal salt diet. No mice could be generated that were homozygous for the allele. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,667,187 (GRCm39) L220H unknown Het
Amt T A 9: 108,177,851 (GRCm39) L272Q probably damaging Het
Ank2 G C 3: 126,770,545 (GRCm39) Y894* probably null Het
Ankzf1 T A 1: 75,170,908 (GRCm39) F105I probably damaging Het
Aox4 C A 1: 58,298,236 (GRCm39) Y1067* probably null Het
BC034090 T A 1: 155,100,836 (GRCm39) Q476L probably damaging Het
Bhmt G T 13: 93,763,871 (GRCm39) R57S probably damaging Het
Cacna1c A T 6: 118,633,136 (GRCm39) F964L probably damaging Het
Celsr3 A C 9: 108,724,851 (GRCm39) S396R probably benign Het
Cpne4 C A 9: 104,799,755 (GRCm39) Q191K probably damaging Het
Csnk1g2 T C 10: 80,475,038 (GRCm39) Y352H probably benign Het
D630003M21Rik A G 2: 158,058,623 (GRCm39) S426P probably damaging Het
Dennd10 T A 19: 60,823,309 (GRCm39) F315I probably benign Het
Dido1 G T 2: 180,329,443 (GRCm39) N326K probably benign Het
E2f2 T A 4: 135,911,760 (GRCm39) I257N probably damaging Het
Elfn1 T G 5: 139,959,413 (GRCm39) F806V probably damaging Het
Eml6 T A 11: 29,783,204 (GRCm39) Y559F probably damaging Het
Erich6 A G 3: 58,543,480 (GRCm39) probably null Het
Fam78a T C 2: 31,972,617 (GRCm39) N101S probably damaging Het
Fam83h A G 15: 75,874,185 (GRCm39) S1051P probably benign Het
Galns C T 8: 123,330,195 (GRCm39) G112D probably damaging Het
Gm9923 A G 10: 72,145,524 (GRCm39) K125R probably damaging Het
Hectd3 G A 4: 116,854,415 (GRCm39) V326M probably damaging Het
Iars2 A G 1: 185,048,248 (GRCm39) S495P possibly damaging Het
Ice1 T C 13: 70,754,503 (GRCm39) R528G probably damaging Het
Igkv12-38 T A 6: 69,920,368 (GRCm39) Y50F possibly damaging Het
Inpp5j T C 11: 3,445,025 (GRCm39) S883G probably damaging Het
Irf8 T C 8: 121,480,178 (GRCm39) S139P probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Kcnq4 G T 4: 120,570,271 (GRCm39) D357E possibly damaging Het
Klhl1 A G 14: 96,517,584 (GRCm39) L364P probably damaging Het
Krt7 A G 15: 101,318,439 (GRCm39) I309V probably benign Het
Krt76 G T 15: 101,797,516 (GRCm39) A281D probably damaging Het
Lancl2 T C 6: 57,714,697 (GRCm39) F430L probably damaging Het
Llgl2 T C 11: 115,739,125 (GRCm39) V332A probably damaging Het
Lrrc26 A T 2: 25,180,076 (GRCm39) T26S probably benign Het
Lrrk1 T A 7: 65,912,041 (GRCm39) M1840L probably benign Het
Lyst G A 13: 13,812,486 (GRCm39) C966Y probably damaging Het
Mad1l1 T A 5: 140,247,266 (GRCm39) S354C possibly damaging Het
Mbtps1 C T 8: 120,252,159 (GRCm39) G577D probably damaging Het
Mycbp2 C T 14: 103,426,027 (GRCm39) R2366H probably damaging Het
Myo18a T G 11: 77,668,511 (GRCm39) probably null Het
Naip5 G A 13: 100,358,639 (GRCm39) R866C possibly damaging Het
Nav2 T A 7: 49,102,567 (GRCm39) V455E probably benign Het
Neb A G 2: 52,153,674 (GRCm39) I2417T possibly damaging Het
Nme5 C T 18: 34,702,890 (GRCm39) A133T probably benign Het
Nradd T C 9: 110,450,979 (GRCm39) D51G possibly damaging Het
Pard3b A G 1: 62,250,843 (GRCm39) R591G probably damaging Het
Pcbp4 T C 9: 106,337,929 (GRCm39) F73S probably damaging Het
Pcdhb11 C T 18: 37,555,419 (GRCm39) Q250* probably null Het
Pde1c T A 6: 56,049,194 (GRCm39) K766N probably damaging Het
Phf21b G A 15: 84,738,942 (GRCm39) Q40* probably null Het
Prr14 A G 7: 127,073,868 (GRCm39) D244G probably benign Het
Rab11fip5 C T 6: 85,351,249 (GRCm39) A88T probably damaging Het
Rad54l2 A T 9: 106,593,317 (GRCm39) S428T probably benign Het
Rdh9 A G 10: 127,612,621 (GRCm39) I90V probably benign Het
Rhag G T 17: 41,139,292 (GRCm39) G76C probably damaging Het
Riok3 T A 18: 12,261,984 (GRCm39) V6E possibly damaging Het
Rnf7l A T 10: 63,257,244 (GRCm39) V92E probably damaging Het
Scn10a A G 9: 119,500,592 (GRCm39) I229T probably damaging Het
Slco1a1 G T 6: 141,854,695 (GRCm39) T652K probably benign Het
Slit1 T A 19: 41,635,459 (GRCm39) I345F probably damaging Het
Snrnp200 A T 2: 127,074,857 (GRCm39) I1477F probably damaging Het
Snx31 G A 15: 36,523,698 (GRCm39) T328I possibly damaging Het
Tmem101 C T 11: 102,047,155 (GRCm39) G6R probably benign Het
Tmem199 C G 11: 78,399,506 (GRCm39) G131R probably benign Het
Trim66 A G 7: 109,055,267 (GRCm39) probably null Het
Ttn G T 2: 76,681,929 (GRCm39) probably benign Het
Upk3bl T C 5: 136,086,247 (GRCm39) L61P probably benign Het
Vmn2r108 A G 17: 20,692,632 (GRCm39) Y75H probably damaging Het
Vmn2r91 T A 17: 18,327,906 (GRCm39) I500K probably damaging Het
Vps18 C T 2: 119,124,272 (GRCm39) R400C probably damaging Het
Zeb1 C T 18: 5,767,286 (GRCm39) P599L probably damaging Het
Zfhx4 G T 3: 5,464,557 (GRCm39) A1572S probably damaging Het
Zfp677 T A 17: 21,617,680 (GRCm39) C246S possibly damaging Het
Zfp719 T A 7: 43,239,834 (GRCm39) I474N probably damaging Het
Other mutations in Strn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00722:Strn APN 17 78,999,849 (GRCm39) missense possibly damaging 0.89
IGL02165:Strn APN 17 78,995,049 (GRCm39) missense probably damaging 1.00
IGL02424:Strn APN 17 78,991,780 (GRCm39) missense probably damaging 1.00
IGL02473:Strn APN 17 78,991,722 (GRCm39) missense possibly damaging 0.71
IGL03306:Strn APN 17 78,974,652 (GRCm39) missense probably damaging 0.98
R0053:Strn UTSW 17 78,964,363 (GRCm39) missense possibly damaging 0.92
R0053:Strn UTSW 17 78,964,363 (GRCm39) missense possibly damaging 0.92
R0165:Strn UTSW 17 78,984,803 (GRCm39) missense possibly damaging 0.89
R1156:Strn UTSW 17 78,964,360 (GRCm39) missense probably damaging 0.99
R1191:Strn UTSW 17 78,999,855 (GRCm39) missense possibly damaging 0.82
R1256:Strn UTSW 17 78,972,046 (GRCm39) critical splice donor site probably null
R1700:Strn UTSW 17 78,999,831 (GRCm39) missense probably damaging 1.00
R1878:Strn UTSW 17 78,984,755 (GRCm39) missense possibly damaging 0.81
R1897:Strn UTSW 17 78,990,271 (GRCm39) missense probably benign 0.01
R1912:Strn UTSW 17 78,991,824 (GRCm39) missense probably damaging 1.00
R1975:Strn UTSW 17 78,999,928 (GRCm39) splice site probably null
R2357:Strn UTSW 17 78,963,028 (GRCm39) missense probably damaging 1.00
R3054:Strn UTSW 17 78,990,321 (GRCm39) missense probably damaging 0.99
R3693:Strn UTSW 17 78,964,421 (GRCm39) missense probably damaging 1.00
R3694:Strn UTSW 17 78,964,421 (GRCm39) missense probably damaging 1.00
R3695:Strn UTSW 17 78,964,421 (GRCm39) missense probably damaging 1.00
R3941:Strn UTSW 17 78,965,369 (GRCm39) missense probably damaging 0.99
R4431:Strn UTSW 17 79,043,891 (GRCm39) missense probably damaging 1.00
R4570:Strn UTSW 17 78,984,801 (GRCm39) missense possibly damaging 0.95
R4678:Strn UTSW 17 78,984,780 (GRCm39) missense probably damaging 1.00
R4947:Strn UTSW 17 78,969,208 (GRCm39) missense probably damaging 0.98
R5470:Strn UTSW 17 78,964,374 (GRCm39) missense probably benign 0.01
R5710:Strn UTSW 17 78,995,028 (GRCm39) missense probably damaging 1.00
R5943:Strn UTSW 17 78,977,276 (GRCm39) missense probably damaging 0.96
R6173:Strn UTSW 17 79,008,298 (GRCm39) missense probably damaging 1.00
R6800:Strn UTSW 17 78,977,787 (GRCm39) intron probably benign
R6846:Strn UTSW 17 79,043,886 (GRCm39) missense probably damaging 0.97
R7716:Strn UTSW 17 78,963,204 (GRCm39) missense probably damaging 0.99
R7746:Strn UTSW 17 78,984,801 (GRCm39) missense probably benign 0.11
R7950:Strn UTSW 17 78,977,852 (GRCm39) missense
R7997:Strn UTSW 17 78,991,672 (GRCm39) missense probably benign 0.01
R8344:Strn UTSW 17 78,980,076 (GRCm39) missense probably damaging 1.00
R9074:Strn UTSW 17 79,043,790 (GRCm39) missense probably benign 0.00
R9523:Strn UTSW 17 78,967,575 (GRCm39) missense probably benign 0.17
R9538:Strn UTSW 17 78,972,219 (GRCm39) missense possibly damaging 0.68
RF006:Strn UTSW 17 78,984,700 (GRCm39) frame shift probably null
RF008:Strn UTSW 17 78,984,716 (GRCm39) frame shift probably null
RF017:Strn UTSW 17 78,984,717 (GRCm39) frame shift probably null
RF018:Strn UTSW 17 78,984,712 (GRCm39) frame shift probably null
RF031:Strn UTSW 17 78,984,706 (GRCm39) frame shift probably null
RF035:Strn UTSW 17 78,984,714 (GRCm39) frame shift probably null
RF036:Strn UTSW 17 78,984,706 (GRCm39) frame shift probably null
RF038:Strn UTSW 17 78,984,711 (GRCm39) frame shift probably null
RF039:Strn UTSW 17 78,984,707 (GRCm39) frame shift probably null
RF044:Strn UTSW 17 78,984,717 (GRCm39) frame shift probably null
RF045:Strn UTSW 17 78,984,711 (GRCm39) frame shift probably null
RF047:Strn UTSW 17 78,984,703 (GRCm39) frame shift probably null
RF047:Strn UTSW 17 78,984,699 (GRCm39) frame shift probably null
RF048:Strn UTSW 17 78,984,716 (GRCm39) frame shift probably null
X0022:Strn UTSW 17 79,008,378 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAAAGTAAATGTGTTCTCGGGCG -3'
(R):5'- CAGGTTAGAAAGGAATACTCTTTACTG -3'

Sequencing Primer
(F):5'- GTGGGCACTACAACAGTTTAGAACTC -3'
(R):5'- GCACTTTGTCAAGTGGAC -3'
Posted On 2015-11-11