Incidental Mutation 'R9458:Togaram2'
ID 714729
Institutional Source Beutler Lab
Gene Symbol Togaram2
Ensembl Gene ENSMUSG00000045761
Gene Name TOG array regulator of axonemal microtubules 2
Synonyms Fam179a, 4632412N22Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R9458 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 71980256-72036664 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72024246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 810 (V810A)
Ref Sequence ENSEMBL: ENSMUSP00000114359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097284] [ENSMUST00000144479] [ENSMUST00000153445]
AlphaFold Q3TYG6
Predicted Effect possibly damaging
Transcript: ENSMUST00000097284
AA Change: V790A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000094886
Gene: ENSMUSG00000045761
AA Change: V790A

DomainStartEndE-ValueType
low complexity region 49 60 N/A INTRINSIC
low complexity region 94 105 N/A INTRINSIC
low complexity region 467 474 N/A INTRINSIC
Pfam:CLASP_N 492 705 2.3e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000144479
AA Change: V810A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114359
Gene: ENSMUSG00000045761
AA Change: V810A

DomainStartEndE-ValueType
low complexity region 50 61 N/A INTRINSIC
low complexity region 95 106 N/A INTRINSIC
low complexity region 468 475 N/A INTRINSIC
Pfam:CLASP_N 493 706 2.4e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000153445
AA Change: V790A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122691
Gene: ENSMUSG00000045761
AA Change: V790A

DomainStartEndE-ValueType
low complexity region 49 60 N/A INTRINSIC
low complexity region 94 105 N/A INTRINSIC
low complexity region 467 474 N/A INTRINSIC
Pfam:CLASP_N 492 705 2.3e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010K14Rik T C 11: 70,127,731 (GRCm39) I64V possibly damaging Het
4921539E11Rik T A 4: 103,141,608 (GRCm39) I18L possibly damaging Het
Arcn1 A G 9: 44,671,267 (GRCm39) S87P probably damaging Het
Bmp7 G A 2: 172,721,268 (GRCm39) P269L possibly damaging Het
Cdhr18 A T 14: 13,856,709 (GRCm38) F467L Het
Clrn2 A T 5: 45,617,513 (GRCm39) Y128F possibly damaging Het
Col2a1 G A 15: 97,876,242 (GRCm39) R1192C unknown Het
Col6a6 A G 9: 105,586,361 (GRCm39) F1887L probably benign Het
Crocc2 G T 1: 93,145,516 (GRCm39) A1466S probably damaging Het
Dnah8 A G 17: 31,049,777 (GRCm39) N4313D probably damaging Het
Dzip1 T C 14: 119,148,785 (GRCm39) E298G probably damaging Het
Eif2b4 C A 5: 31,350,609 (GRCm39) probably benign Het
Emx1 T A 6: 85,181,042 (GRCm39) V253D probably damaging Het
Enah A T 1: 181,746,107 (GRCm39) S654R unknown Het
F2 A T 2: 91,461,113 (GRCm39) N207K probably benign Het
Flcn G T 11: 59,690,208 (GRCm39) D281E possibly damaging Het
Fzd7 C A 1: 59,523,554 (GRCm39) P479Q probably damaging Het
Gulo T C 14: 66,235,043 (GRCm39) N226S probably benign Het
Igfbp6 A G 15: 102,057,634 (GRCm39) N205S probably benign Het
Ints1 A G 5: 139,743,407 (GRCm39) L1655P probably damaging Het
Mndal A G 1: 173,687,749 (GRCm39) F495S probably damaging Het
Panx2 A G 15: 88,952,057 (GRCm39) K175E possibly damaging Het
Panx2 A C 15: 88,952,058 (GRCm39) K175T probably damaging Het
Pde6a A T 18: 61,387,477 (GRCm39) Y456F probably damaging Het
Phf21b A G 15: 84,738,995 (GRCm39) L22P possibly damaging Het
Rev3l T C 10: 39,659,247 (GRCm39) I83T probably damaging Het
Sfrp5 T C 19: 42,190,296 (GRCm39) D52G probably benign Het
Sgsm2 A G 11: 74,759,557 (GRCm39) S102P possibly damaging Het
Slc7a2 T G 8: 41,352,330 (GRCm39) I131S probably damaging Het
Snupn A T 9: 56,890,039 (GRCm39) I287F possibly damaging Het
Synj1 T G 16: 90,766,200 (GRCm39) I573L probably benign Het
Tmcc2 T G 1: 132,286,747 (GRCm39) D568A probably damaging Het
Tmf1 G T 6: 97,153,382 (GRCm39) H230Q probably benign Het
Vmn1r169 T C 7: 23,276,628 (GRCm39) S7P possibly damaging Het
Vwce A G 19: 10,631,688 (GRCm39) T550A possibly damaging Het
Zbtb12 T C 17: 35,115,367 (GRCm39) V384A possibly damaging Het
Zpld2 G A 4: 133,929,312 (GRCm39) P331L probably benign Het
Zscan20 T C 4: 128,480,639 (GRCm39) probably null Het
Other mutations in Togaram2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Togaram2 APN 17 72,031,999 (GRCm39) missense probably damaging 1.00
IGL01298:Togaram2 APN 17 72,023,508 (GRCm39) missense possibly damaging 0.71
IGL01625:Togaram2 APN 17 72,021,693 (GRCm39) missense probably benign 0.06
IGL01691:Togaram2 APN 17 72,036,485 (GRCm39) missense probably null 0.02
IGL02165:Togaram2 APN 17 72,004,861 (GRCm39) missense probably benign 0.00
IGL02186:Togaram2 APN 17 71,992,166 (GRCm39) missense possibly damaging 0.64
IGL02664:Togaram2 APN 17 72,036,234 (GRCm39) missense probably damaging 0.97
IGL02712:Togaram2 APN 17 72,011,749 (GRCm39) missense probably benign 0.04
IGL03000:Togaram2 APN 17 72,024,365 (GRCm39) missense probably benign 0.08
IGL03209:Togaram2 APN 17 72,002,740 (GRCm39) critical splice donor site probably null
R0211:Togaram2 UTSW 17 72,036,243 (GRCm39) missense probably damaging 1.00
R0212:Togaram2 UTSW 17 72,031,978 (GRCm39) missense probably damaging 1.00
R0219:Togaram2 UTSW 17 72,021,225 (GRCm39) splice site probably benign
R0268:Togaram2 UTSW 17 72,004,993 (GRCm39) critical splice donor site probably null
R0617:Togaram2 UTSW 17 72,007,504 (GRCm39) missense possibly damaging 0.87
R0831:Togaram2 UTSW 17 72,023,439 (GRCm39) missense probably damaging 1.00
R0972:Togaram2 UTSW 17 72,014,309 (GRCm39) missense probably damaging 1.00
R1635:Togaram2 UTSW 17 72,004,846 (GRCm39) missense probably benign 0.05
R1799:Togaram2 UTSW 17 71,998,450 (GRCm39) missense probably damaging 1.00
R2062:Togaram2 UTSW 17 72,023,360 (GRCm39) missense probably benign 0.26
R2414:Togaram2 UTSW 17 72,023,304 (GRCm39) intron probably benign
R2866:Togaram2 UTSW 17 72,016,592 (GRCm39) missense probably benign 0.00
R2867:Togaram2 UTSW 17 72,016,592 (GRCm39) missense probably benign 0.00
R2867:Togaram2 UTSW 17 72,016,592 (GRCm39) missense probably benign 0.00
R4066:Togaram2 UTSW 17 72,023,233 (GRCm39) intron probably benign
R4807:Togaram2 UTSW 17 72,004,918 (GRCm39) missense probably damaging 1.00
R5659:Togaram2 UTSW 17 71,994,667 (GRCm39) missense probably damaging 0.96
R5680:Togaram2 UTSW 17 71,996,204 (GRCm39) missense probably benign 0.00
R5975:Togaram2 UTSW 17 72,036,200 (GRCm39) missense probably damaging 1.00
R5996:Togaram2 UTSW 17 72,011,778 (GRCm39) missense probably damaging 0.99
R6619:Togaram2 UTSW 17 71,996,266 (GRCm39) missense probably damaging 0.99
R6682:Togaram2 UTSW 17 72,011,749 (GRCm39) missense probably benign 0.04
R6922:Togaram2 UTSW 17 72,014,129 (GRCm39) missense probably damaging 1.00
R6956:Togaram2 UTSW 17 72,036,183 (GRCm39) missense probably benign 0.00
R6968:Togaram2 UTSW 17 72,016,608 (GRCm39) missense probably damaging 1.00
R7007:Togaram2 UTSW 17 72,016,638 (GRCm39) missense probably damaging 0.99
R7015:Togaram2 UTSW 17 72,016,563 (GRCm39) missense possibly damaging 0.62
R7140:Togaram2 UTSW 17 72,021,761 (GRCm39) missense probably benign 0.00
R7383:Togaram2 UTSW 17 72,007,512 (GRCm39) missense probably damaging 1.00
R7691:Togaram2 UTSW 17 72,023,405 (GRCm39) missense probably benign 0.16
R7778:Togaram2 UTSW 17 72,011,746 (GRCm39) missense probably benign 0.00
R7824:Togaram2 UTSW 17 72,011,746 (GRCm39) missense probably benign 0.00
R7862:Togaram2 UTSW 17 71,996,168 (GRCm39) missense probably benign 0.00
R7864:Togaram2 UTSW 17 72,007,935 (GRCm39) missense probably damaging 0.96
R7968:Togaram2 UTSW 17 72,024,428 (GRCm39) missense probably benign 0.18
R8125:Togaram2 UTSW 17 72,023,489 (GRCm39) missense probably benign 0.16
R8227:Togaram2 UTSW 17 72,021,237 (GRCm39) nonsense probably null
R8331:Togaram2 UTSW 17 72,036,221 (GRCm39) missense probably damaging 1.00
R8354:Togaram2 UTSW 17 72,004,873 (GRCm39) missense probably benign 0.00
R8454:Togaram2 UTSW 17 72,004,873 (GRCm39) missense probably benign 0.00
R9043:Togaram2 UTSW 17 71,993,699 (GRCm39) missense probably benign 0.00
R9050:Togaram2 UTSW 17 72,007,878 (GRCm39) missense probably damaging 1.00
R9303:Togaram2 UTSW 17 71,996,408 (GRCm39) missense probably damaging 0.97
R9305:Togaram2 UTSW 17 71,996,408 (GRCm39) missense probably damaging 0.97
R9660:Togaram2 UTSW 17 72,024,365 (GRCm39) missense probably damaging 0.98
R9776:Togaram2 UTSW 17 72,023,508 (GRCm39) missense possibly damaging 0.94
X0063:Togaram2 UTSW 17 72,014,192 (GRCm39) missense possibly damaging 0.91
Z1088:Togaram2 UTSW 17 72,021,275 (GRCm39) missense possibly damaging 0.87
Z1177:Togaram2 UTSW 17 72,007,997 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CTGGATGATTGACACGTGAATAC -3'
(R):5'- CATCATGGCATCCAGTACGG -3'

Sequencing Primer
(F):5'- TTGACACGTGAATACAGTCCGTG -3'
(R):5'- TCCAGTACGGTGGAGGCAG -3'
Posted On 2022-06-15