Incidental Mutation 'R5308:Strn3'
ID 434506
Institutional Source Beutler Lab
Gene Symbol Strn3
Ensembl Gene ENSMUSG00000020954
Gene Name striatin, calmodulin binding protein 3
Synonyms SG2NA
MMRRC Submission 042891-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5308 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 51656415-51738680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51676168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 454 (Y454H)
Ref Sequence ENSEMBL: ENSMUSP00000013130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013130] [ENSMUST00000169503]
AlphaFold Q9ERG2
Predicted Effect probably damaging
Transcript: ENSMUST00000013130
AA Change: Y454H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000013130
Gene: ENSMUSG00000020954
AA Change: Y454H

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
low complexity region 31 55 N/A INTRINSIC
Pfam:Striatin 64 194 1.3e-50 PFAM
low complexity region 252 263 N/A INTRINSIC
low complexity region 349 367 N/A INTRINSIC
low complexity region 429 446 N/A INTRINSIC
WD40 468 507 7.05e-9 SMART
WD40 521 560 2.42e-7 SMART
WD40 574 613 1.62e-8 SMART
WD40 617 659 8.25e0 SMART
WD40 670 708 2.65e1 SMART
WD40 711 750 2.32e-9 SMART
WD40 753 796 4.95e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169503
AA Change: Y370H

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130184
Gene: ENSMUSG00000020954
AA Change: Y370H

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
low complexity region 31 55 N/A INTRINSIC
Pfam:Striatin 64 198 3.2e-51 PFAM
low complexity region 252 263 N/A INTRINSIC
low complexity region 345 362 N/A INTRINSIC
WD40 384 423 7.05e-9 SMART
WD40 437 476 2.42e-7 SMART
WD40 490 529 1.62e-8 SMART
WD40 533 575 8.25e0 SMART
WD40 586 624 2.65e1 SMART
WD40 627 666 2.32e-9 SMART
WD40 669 712 4.95e-4 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 97.7%
  • 10x: 95.4%
  • 20x: 91.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C G 3: 124,199,999 (GRCm39) G531A probably damaging Het
4921504E06Rik T C 2: 19,528,892 (GRCm39) D163G probably damaging Het
Abcd4 C T 12: 84,650,067 (GRCm39) probably null Het
Alg9 T C 9: 50,734,011 (GRCm39) S570P possibly damaging Het
Angptl3 C A 4: 98,922,723 (GRCm39) H255N probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Cdc37 A T 9: 21,052,060 (GRCm39) D326E probably benign Het
Cdk13 T C 13: 17,946,898 (GRCm39) K6R probably damaging Het
Ces1b T C 8: 93,793,645 (GRCm39) K315E probably benign Het
Cfap61 G A 2: 145,951,908 (GRCm39) G190S probably damaging Het
Cimap3 T C 3: 105,908,419 (GRCm39) T107A probably benign Het
Ckap4 T C 10: 84,364,238 (GRCm39) E275G probably benign Het
Cplane1 G A 15: 8,290,174 (GRCm39) probably null Het
Csf3r A G 4: 125,929,137 (GRCm39) D349G probably benign Het
Cyp2d37-ps T C 15: 82,574,012 (GRCm39) noncoding transcript Het
Dmbt1 T A 7: 130,642,751 (GRCm39) C190S probably damaging Het
Dnah11 A G 12: 118,049,415 (GRCm39) F1670L possibly damaging Het
Dnah5 A T 15: 28,229,797 (GRCm39) I144F possibly damaging Het
Eno2 C A 6: 124,744,056 (GRCm39) V84L probably damaging Het
Ercc4 G T 16: 12,948,028 (GRCm39) R325L probably damaging Het
Fcgr2b T G 1: 170,793,279 (GRCm39) Q250P probably benign Het
Garin5a T C 7: 44,149,606 (GRCm39) V109A probably damaging Het
Garre1 T A 7: 33,945,180 (GRCm39) K355* probably null Het
Gcfc2 T C 6: 81,920,524 (GRCm39) probably null Het
Glb1l2 C T 9: 26,676,055 (GRCm39) G509D probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Grn A G 11: 102,327,018 (GRCm39) N160D possibly damaging Het
Hexd T A 11: 121,113,095 (GRCm39) V510D probably damaging Het
Igfbp1 G A 11: 7,149,919 (GRCm39) probably null Het
Itga11 T A 9: 62,663,051 (GRCm39) M589K probably benign Het
Itpr1 A T 6: 108,333,472 (GRCm39) S51C probably damaging Het
Klra3 T C 6: 130,311,270 (GRCm39) probably null Het
Mad2l1 T C 6: 66,514,675 (GRCm39) probably null Het
Matn3 CGGGGCTCGGGGGC CGGGGC 12: 9,002,308 (GRCm39) probably null Het
Myo9a T A 9: 59,771,244 (GRCm39) Y939N probably damaging Het
Nxpe3 C T 16: 55,686,834 (GRCm39) S58N probably benign Het
Or1j16 T A 2: 36,530,706 (GRCm39) Y218* probably null Het
Or3a1c T A 11: 74,046,397 (GRCm39) M139K probably damaging Het
Or4c103 T C 2: 88,513,749 (GRCm39) E109G probably benign Het
Or4k45 C T 2: 111,394,899 (GRCm39) A297T probably damaging Het
Paics T C 5: 77,104,479 (GRCm39) S35P probably damaging Het
Pcnt A C 10: 76,192,159 (GRCm39) Y2717* probably null Het
Plekho2 T A 9: 65,465,957 (GRCm39) N144Y probably damaging Het
Plscr5 T C 9: 92,080,565 (GRCm39) F17S possibly damaging Het
Prrc2a C T 17: 35,380,023 (GRCm39) R192H unknown Het
Rbm27 T A 18: 42,460,275 (GRCm39) M735K probably damaging Het
Rfc1 T A 5: 65,436,804 (GRCm39) K625N probably damaging Het
Ric8b T A 10: 84,783,611 (GRCm39) F156L probably benign Het
Romo1 C A 2: 155,986,473 (GRCm39) A32E possibly damaging Het
Rpl26 T A 11: 68,795,284 (GRCm39) Y135N probably damaging Het
Sacs T C 14: 61,429,849 (GRCm39) V636A probably benign Het
Scyl2 A T 10: 89,477,869 (GRCm39) I710N probably benign Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc4a1 T A 11: 102,249,903 (GRCm39) I154F probably damaging Het
Snx11 A G 11: 96,661,535 (GRCm39) S157P probably damaging Het
Snx18 G A 13: 113,753,383 (GRCm39) Q517* probably null Het
Stard4 G T 18: 33,336,678 (GRCm39) N212K probably damaging Het
Stx17 A T 4: 48,182,851 (GRCm39) probably benign Het
Tas2r121 G A 6: 132,677,480 (GRCm39) T164I possibly damaging Het
Tbc1d8 T C 1: 39,428,490 (GRCm39) Y485C probably damaging Het
Tmem45b T C 9: 31,340,380 (GRCm39) M8V probably damaging Het
Usp28 T C 9: 48,948,501 (GRCm39) F844L probably damaging Het
Usp32 T A 11: 84,908,544 (GRCm39) N1054I probably benign Het
Xpa T A 4: 46,185,659 (GRCm39) E106D probably benign Het
Zfp85 C T 13: 67,896,974 (GRCm39) C366Y probably damaging Het
Other mutations in Strn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Strn3 APN 12 51,707,979 (GRCm39) missense possibly damaging 0.63
IGL00690:Strn3 APN 12 51,657,221 (GRCm39) missense possibly damaging 0.96
IGL00886:Strn3 APN 12 51,656,933 (GRCm39) missense probably damaging 1.00
IGL01967:Strn3 APN 12 51,699,596 (GRCm39) missense probably damaging 1.00
IGL02507:Strn3 APN 12 51,708,410 (GRCm39) nonsense probably null
IGL03139:Strn3 APN 12 51,699,633 (GRCm39) splice site probably benign
IGL03282:Strn3 APN 12 51,673,992 (GRCm39) missense probably benign 0.00
PIT4519001:Strn3 UTSW 12 51,680,491 (GRCm39) missense probably benign 0.00
R0106:Strn3 UTSW 12 51,668,571 (GRCm39) missense probably benign 0.01
R0106:Strn3 UTSW 12 51,668,571 (GRCm39) missense probably benign 0.01
R0336:Strn3 UTSW 12 51,708,391 (GRCm39) critical splice donor site probably null
R0492:Strn3 UTSW 12 51,657,187 (GRCm39) missense probably damaging 1.00
R0512:Strn3 UTSW 12 51,673,966 (GRCm39) missense possibly damaging 0.94
R0610:Strn3 UTSW 12 51,657,231 (GRCm39) critical splice acceptor site probably null
R0707:Strn3 UTSW 12 51,657,187 (GRCm39) missense probably damaging 1.00
R0834:Strn3 UTSW 12 51,673,879 (GRCm39) splice site probably benign
R1562:Strn3 UTSW 12 51,680,401 (GRCm39) missense probably benign
R1599:Strn3 UTSW 12 51,699,549 (GRCm39) missense possibly damaging 0.78
R1663:Strn3 UTSW 12 51,699,609 (GRCm39) missense probably damaging 1.00
R1807:Strn3 UTSW 12 51,673,986 (GRCm39) missense probably benign 0.10
R2263:Strn3 UTSW 12 51,690,006 (GRCm39) splice site probably null
R2443:Strn3 UTSW 12 51,674,618 (GRCm39) missense probably damaging 1.00
R3623:Strn3 UTSW 12 51,707,999 (GRCm39) missense possibly damaging 0.87
R3624:Strn3 UTSW 12 51,707,999 (GRCm39) missense possibly damaging 0.87
R4154:Strn3 UTSW 12 51,673,914 (GRCm39) missense probably damaging 1.00
R4223:Strn3 UTSW 12 51,674,638 (GRCm39) missense probably damaging 1.00
R4400:Strn3 UTSW 12 51,694,883 (GRCm39) missense possibly damaging 0.85
R4564:Strn3 UTSW 12 51,680,404 (GRCm39) missense probably benign 0.00
R4585:Strn3 UTSW 12 51,696,953 (GRCm39) missense probably benign 0.02
R4755:Strn3 UTSW 12 51,656,999 (GRCm39) missense possibly damaging 0.70
R4794:Strn3 UTSW 12 51,696,954 (GRCm39) missense probably benign 0.38
R5288:Strn3 UTSW 12 51,694,803 (GRCm39) missense probably damaging 1.00
R5765:Strn3 UTSW 12 51,680,410 (GRCm39) missense probably benign
R5893:Strn3 UTSW 12 51,690,006 (GRCm39) splice site probably null
R5945:Strn3 UTSW 12 51,676,279 (GRCm39) missense probably benign 0.00
R6244:Strn3 UTSW 12 51,656,890 (GRCm39) missense probably damaging 0.98
R6523:Strn3 UTSW 12 51,689,881 (GRCm39) splice site probably null
R7437:Strn3 UTSW 12 51,656,946 (GRCm39) missense probably damaging 1.00
R7545:Strn3 UTSW 12 51,674,543 (GRCm39) missense probably damaging 0.98
R8299:Strn3 UTSW 12 51,694,890 (GRCm39) missense probably damaging 1.00
R8337:Strn3 UTSW 12 51,707,955 (GRCm39) missense probably damaging 1.00
R9141:Strn3 UTSW 12 51,694,873 (GRCm39) missense probably damaging 1.00
R9426:Strn3 UTSW 12 51,694,873 (GRCm39) missense probably damaging 1.00
R9501:Strn3 UTSW 12 51,696,956 (GRCm39) missense probably damaging 0.99
R9503:Strn3 UTSW 12 51,656,894 (GRCm39) missense possibly damaging 0.68
R9518:Strn3 UTSW 12 51,696,956 (GRCm39) missense probably damaging 0.99
R9563:Strn3 UTSW 12 51,674,300 (GRCm39) missense possibly damaging 0.92
R9630:Strn3 UTSW 12 51,657,013 (GRCm39) missense probably damaging 1.00
R9696:Strn3 UTSW 12 51,676,286 (GRCm39) missense probably damaging 1.00
X0024:Strn3 UTSW 12 51,699,492 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CGACTCAAGATGTATTTTGTCAACC -3'
(R):5'- CGTGCTTAAATTCCCCACAATATTG -3'

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