Incidental Mutation 'R5470:Strn'
ID 433500
Institutional Source Beutler Lab
Gene Symbol Strn
Ensembl Gene ENSMUSG00000024077
Gene Name striatin, calmodulin binding protein
Synonyms
MMRRC Submission 043031-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R5470 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 78957327-79043990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78964374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 530 (H530Q)
Ref Sequence ENSEMBL: ENSMUSP00000024881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024881] [ENSMUST00000145910]
AlphaFold O55106
Predicted Effect probably benign
Transcript: ENSMUST00000024881
AA Change: H530Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000024881
Gene: ENSMUSG00000024077
AA Change: H530Q

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 benign
Transcript: ENSMUST00000145910
AA Change: H683Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000120830
Gene: ENSMUSG00000024077
AA Change: H683Q

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
Meta Mutation Damage Score 0.1868 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency 99% (79/80)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,215,715 (GRCm39) I813F probably damaging Het
Aqr G A 2: 113,988,056 (GRCm39) L169F probably damaging Het
Atp6v1d G A 12: 78,892,058 (GRCm39) R182C probably benign Het
Bcl2l13 G T 6: 120,839,833 (GRCm39) A44S probably benign Het
Brip1 T C 11: 86,039,368 (GRCm39) K389E possibly damaging Het
C530025M09Rik G A 2: 149,673,045 (GRCm39) probably benign Het
Ccdc7b T A 8: 129,799,081 (GRCm39) S53T possibly damaging Het
Chd8 A G 14: 52,450,066 (GRCm39) F154L probably damaging Het
Cop1 A T 1: 159,094,430 (GRCm39) probably benign Het
Cyp2c39 A G 19: 39,501,974 (GRCm39) K121R possibly damaging Het
Cyp3a57 A G 5: 145,309,429 (GRCm39) M256V probably benign Het
Deup1 T C 9: 15,493,916 (GRCm39) probably null Het
Dnah10 A G 5: 124,830,232 (GRCm39) N709D probably benign Het
Dthd1 A G 5: 62,976,109 (GRCm39) Y261C probably damaging Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
En2 C T 5: 28,371,922 (GRCm39) T133M probably benign Het
Endou A G 15: 97,616,836 (GRCm39) F229S probably damaging Het
Etl4 A T 2: 20,534,791 (GRCm39) H79L probably damaging Het
Fah C T 7: 84,242,393 (GRCm39) probably null Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fignl1 T A 11: 11,752,640 (GRCm39) E138D probably benign Het
Fndc3a A G 14: 72,812,008 (GRCm39) L311P possibly damaging Het
Gdf9 T A 11: 53,327,581 (GRCm39) V179E probably benign Het
Gm14129 G T 2: 148,769,737 (GRCm39) noncoding transcript Het
Gorab A G 1: 163,220,078 (GRCm39) I188T probably damaging Het
Gpr152 G A 19: 4,193,128 (GRCm39) C223Y probably damaging Het
Heatr5b A T 17: 79,129,008 (GRCm39) probably null Het
Hsd17b3 G T 13: 64,221,713 (GRCm39) T104N probably damaging Het
Il6ra C T 3: 89,793,302 (GRCm39) V283M probably benign Het
Klk1b16 A T 7: 43,786,755 (GRCm39) I5F probably damaging Het
Krt74 G A 15: 101,662,900 (GRCm39) noncoding transcript Het
Lrch3 T A 16: 32,818,960 (GRCm39) N650K probably damaging Het
Ly96 A T 1: 16,779,710 (GRCm39) E126D probably benign Het
Mgarp C A 3: 51,298,706 (GRCm39) R66L possibly damaging Het
Naalad2 T A 9: 18,242,147 (GRCm39) T586S probably damaging Het
Ndufaf3 T C 9: 108,443,643 (GRCm39) probably benign Het
Neb A G 2: 52,139,450 (GRCm39) M3055T possibly damaging Het
Neo1 G T 9: 58,838,350 (GRCm39) A478D probably damaging Het
Nmrk1 A T 19: 18,617,248 (GRCm39) probably null Het
Nsl1 T C 1: 190,812,737 (GRCm39) M184T probably benign Het
Nup133 T C 8: 124,657,705 (GRCm39) N410S probably benign Het
Opalin A G 19: 41,054,970 (GRCm39) S75P probably benign Het
Or1e17 T C 11: 73,831,696 (GRCm39) I208T probably benign Het
Or3a4 A G 11: 73,944,733 (GRCm39) I284T possibly damaging Het
Or51ag1 T G 7: 103,155,716 (GRCm39) I146L probably benign Het
Palb2 C A 7: 121,713,574 (GRCm39) C903F probably damaging Het
Pcm1 T A 8: 41,740,720 (GRCm39) W989R probably damaging Het
Pfkfb4 T A 9: 108,856,661 (GRCm39) I389N probably damaging Het
Pitrm1 T C 13: 6,603,306 (GRCm39) C119R probably benign Het
Plekha1 T C 7: 130,510,106 (GRCm39) V45A probably damaging Het
Pold2 G A 11: 5,823,048 (GRCm39) P376S probably damaging Het
Rcan2 A G 17: 44,147,174 (GRCm39) D4G probably benign Het
Slc12a1 A T 2: 125,012,634 (GRCm39) T299S probably damaging Het
Slc22a29 A T 19: 8,138,880 (GRCm39) H527Q probably benign Het
Slc22a8 G A 19: 8,585,234 (GRCm39) R261H probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slco4a1 T C 2: 180,115,907 (GRCm39) F681S probably benign Het
Sorcs2 A T 5: 36,188,527 (GRCm39) H860Q probably benign Het
Tex14 A G 11: 87,442,430 (GRCm39) R179G probably damaging Het
Tjp3 T C 10: 81,115,381 (GRCm39) D350G probably benign Het
Tnrc6b G T 15: 80,800,912 (GRCm39) R1406L possibly damaging Het
Tnxb A G 17: 34,935,947 (GRCm39) D2666G probably null Het
Ttn A T 2: 76,560,208 (GRCm39) Y27652N probably benign Het
Utp20 T A 10: 88,653,758 (GRCm39) E287D probably benign Het
Vmn1r45 T C 6: 89,910,698 (GRCm39) I91V probably benign Het
Wdr72 A T 9: 74,046,981 (GRCm39) K76* probably null Het
Zfp689 C T 7: 127,043,425 (GRCm39) A402T probably damaging Het
Zfpm1 A G 8: 123,060,532 (GRCm39) E207G probably damaging Het
Zhx2 G T 15: 57,686,470 (GRCm39) R613L possibly 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
R4729:Strn UTSW 17 78,965,390 (GRCm39) missense probably damaging 0.98
R4947:Strn UTSW 17 78,969,208 (GRCm39) missense probably damaging 0.98
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'- GCTTCCATGACTACTCCGTGAC -3'
(R):5'- TCGTGGTTTAGCTCAGGTAAC -3'

Sequencing Primer
(F):5'- ATGACTACTCCGTGACCGTGG -3'
(R):5'- CTTCCTGCCAAATAAACAGA -3'
Posted On 2016-10-06