Incidental Mutation 'R6662:Trdn'
ID 528028
Institutional Source Beutler Lab
Gene Symbol Trdn
Ensembl Gene ENSMUSG00000019787
Gene Name triadin
Synonyms triadin 2, triadin 1, 2310045H21Rik, EG432451, triadin-2, triadin-3, triadin-1, triadin 3
MMRRC Submission 044782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R6662 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 32959479-33352705 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33350483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 684 (N684I)
Ref Sequence ENSEMBL: ENSMUSP00000093436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095762]
AlphaFold E9Q9K5
Predicted Effect probably damaging
Transcript: ENSMUST00000095762
AA Change: N684I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093436
Gene: ENSMUSG00000019787
AA Change: N684I

DomainStartEndE-ValueType
SCOP:d1lnqa2 49 116 1e-4 SMART
low complexity region 147 158 N/A INTRINSIC
low complexity region 166 182 N/A INTRINSIC
low complexity region 198 223 N/A INTRINSIC
low complexity region 229 250 N/A INTRINSIC
coiled coil region 306 333 N/A INTRINSIC
low complexity region 342 352 N/A INTRINSIC
low complexity region 380 396 N/A INTRINSIC
coiled coil region 417 437 N/A INTRINSIC
low complexity region 448 484 N/A INTRINSIC
low complexity region 539 551 N/A INTRINSIC
low complexity region 559 572 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220089
Meta Mutation Damage Score 0.1138 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that contains a single transmembrane domain. As similar protein in rabbits plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex in association with the ryanodine receptor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and single nucleotide polymorphisms in this gene may be markers for IgA nephritis. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit a loss of transverse orientation of triads within skeletal muscle cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A G 19: 57,062,285 (GRCm39) probably null Het
Acox1 A G 11: 116,066,149 (GRCm39) Y418H probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Aldh3a1 G A 11: 61,105,481 (GRCm39) V196I probably benign Het
Aox3 A G 1: 58,157,774 (GRCm39) K44E probably damaging Het
Bad T A 19: 6,928,438 (GRCm39) probably benign Het
BC034090 G T 1: 155,102,085 (GRCm39) Q60K possibly damaging Het
Casp6 A G 3: 129,705,875 (GRCm39) T181A probably benign Het
Catsperg2 G A 7: 29,418,938 (GRCm39) probably benign Het
Ccdc14 T C 16: 34,511,164 (GRCm39) L46P probably damaging Het
Ces1b A G 8: 93,790,697 (GRCm39) L364S probably benign Het
Cfap45 T C 1: 172,357,417 (GRCm39) I15T probably benign Het
Dph5 G A 3: 115,722,205 (GRCm39) E228K probably benign Het
Fat4 G T 3: 39,010,970 (GRCm39) L2023F possibly damaging Het
Garem1 T C 18: 21,281,304 (GRCm39) N351D probably benign Het
Grm2 C T 9: 106,525,252 (GRCm39) A488T probably benign Het
Ifit3b A G 19: 34,589,337 (GRCm39) E171G probably damaging Het
Il1rn A T 2: 24,226,887 (GRCm39) probably null Het
Itih5 A T 2: 10,253,992 (GRCm39) I748F probably benign Het
Kcnh5 C A 12: 75,054,385 (GRCm39) D520Y probably damaging Het
Mgat5 C A 1: 127,396,974 (GRCm39) H574N probably damaging Het
Moxd1 A C 10: 24,160,658 (GRCm39) D437A probably damaging Het
Mybpc2 A G 7: 44,155,590 (GRCm39) F888L probably benign Het
Ncs1 T A 2: 31,177,372 (GRCm39) L183Q probably damaging Het
Neto2 A T 8: 86,389,844 (GRCm39) D206E probably damaging Het
Omp A G 7: 97,794,546 (GRCm39) L27P probably damaging Het
Oxsm A G 14: 16,242,287 (GRCm38) S161P probably benign Het
Pate6 C A 9: 35,701,296 (GRCm39) R6M possibly damaging Het
Pde4b A G 4: 102,459,095 (GRCm39) I381M possibly damaging Het
Pramel5 A T 4: 143,999,675 (GRCm39) N137K probably benign Het
Prss33 T C 17: 24,052,934 (GRCm39) S247G probably damaging Het
Rassf9 T A 10: 102,381,899 (GRCm39) L425Q possibly damaging Het
Setx A T 2: 29,048,126 (GRCm39) D1909V probably damaging Het
Slc26a3 A T 12: 31,507,345 (GRCm39) K402* probably null Het
Slco1a6 G A 6: 142,078,941 (GRCm39) T118I probably damaging Het
Syne1 A G 10: 5,078,416 (GRCm39) L6769P probably damaging Het
Tas2r107 A T 6: 131,636,452 (GRCm39) V199D possibly damaging Het
Tchp A G 5: 114,858,076 (GRCm39) probably null Het
Trio G T 15: 27,855,082 (GRCm39) T700K probably benign Het
Ttn C T 2: 76,586,242 (GRCm39) V20084I probably benign Het
Ubl3 A T 5: 148,446,116 (GRCm39) Y62* probably null Het
Uckl1 A G 2: 181,215,053 (GRCm39) Y267H possibly damaging Het
Zfp1005 G A 2: 150,108,172 (GRCm39) probably null Het
Zfp786 T C 6: 47,803,920 (GRCm39) N41D probably damaging Het
Zfp983 T C 17: 21,881,001 (GRCm39) S310P probably damaging Het
Other mutations in Trdn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Trdn APN 10 33,347,602 (GRCm39) critical splice donor site probably null
IGL01310:Trdn APN 10 33,181,094 (GRCm39) splice site probably benign
IGL01313:Trdn APN 10 33,076,216 (GRCm39) missense probably damaging 1.00
IGL02177:Trdn APN 10 33,015,169 (GRCm39) missense probably damaging 1.00
IGL02631:Trdn APN 10 33,239,972 (GRCm39) critical splice acceptor site probably null
IGL02732:Trdn APN 10 33,344,195 (GRCm39) splice site probably null
IGL03131:Trdn APN 10 33,274,410 (GRCm39) nonsense probably null
Button UTSW 10 33,350,449 (GRCm39) missense probably damaging 0.97
R0463:Trdn UTSW 10 33,342,417 (GRCm39) critical splice acceptor site probably null
R0610:Trdn UTSW 10 33,350,449 (GRCm39) missense probably damaging 0.97
R0786:Trdn UTSW 10 33,181,077 (GRCm39) missense probably benign 0.22
R0827:Trdn UTSW 10 33,275,154 (GRCm39) splice site probably benign
R1511:Trdn UTSW 10 33,342,448 (GRCm39) missense probably benign 0.18
R1623:Trdn UTSW 10 33,134,098 (GRCm39) missense possibly damaging 0.82
R1760:Trdn UTSW 10 33,109,883 (GRCm39) missense possibly damaging 0.92
R1766:Trdn UTSW 10 33,240,004 (GRCm39) missense probably damaging 1.00
R1884:Trdn UTSW 10 33,133,091 (GRCm39) missense probably benign 0.38
R2297:Trdn UTSW 10 33,211,008 (GRCm39) missense probably damaging 1.00
R2396:Trdn UTSW 10 33,071,978 (GRCm39) missense probably damaging 1.00
R3436:Trdn UTSW 10 33,344,191 (GRCm39) critical splice donor site probably null
R3686:Trdn UTSW 10 33,344,185 (GRCm39) missense probably benign 0.20
R3696:Trdn UTSW 10 33,181,028 (GRCm39) splice site probably null
R3701:Trdn UTSW 10 33,210,980 (GRCm39) missense probably damaging 0.99
R3712:Trdn UTSW 10 33,033,162 (GRCm39) missense probably benign 0.03
R4062:Trdn UTSW 10 33,133,083 (GRCm39) missense probably benign 0.05
R4249:Trdn UTSW 10 33,326,994 (GRCm39) missense probably benign 0.09
R4289:Trdn UTSW 10 33,340,578 (GRCm39) missense probably benign 0.00
R4646:Trdn UTSW 10 33,071,977 (GRCm39) nonsense probably null
R4647:Trdn UTSW 10 33,071,977 (GRCm39) nonsense probably null
R4648:Trdn UTSW 10 33,071,977 (GRCm39) nonsense probably null
R4766:Trdn UTSW 10 33,350,502 (GRCm39) missense probably benign 0.04
R4776:Trdn UTSW 10 33,275,078 (GRCm39) splice site probably null
R4880:Trdn UTSW 10 33,347,575 (GRCm39) missense probably benign 0.26
R4898:Trdn UTSW 10 33,350,413 (GRCm39) missense probably damaging 0.96
R5017:Trdn UTSW 10 33,344,155 (GRCm39) missense probably benign 0.05
R5300:Trdn UTSW 10 33,071,978 (GRCm39) missense probably damaging 1.00
R5320:Trdn UTSW 10 33,209,247 (GRCm39) critical splice donor site probably null
R6089:Trdn UTSW 10 33,340,571 (GRCm39) missense probably benign 0.01
R6216:Trdn UTSW 10 33,181,065 (GRCm39) missense probably damaging 1.00
R6431:Trdn UTSW 10 33,015,110 (GRCm39) missense probably damaging 1.00
R6475:Trdn UTSW 10 33,340,551 (GRCm39) splice site probably null
R6501:Trdn UTSW 10 33,342,450 (GRCm39) missense probably benign 0.02
R6709:Trdn UTSW 10 33,340,587 (GRCm39) missense probably benign 0.00
R6783:Trdn UTSW 10 33,314,811 (GRCm39) missense probably damaging 0.96
R6906:Trdn UTSW 10 33,109,944 (GRCm39) missense probably benign
R6916:Trdn UTSW 10 33,033,014 (GRCm39) missense probably damaging 1.00
R7291:Trdn UTSW 10 33,313,732 (GRCm39) missense probably null 0.83
R7499:Trdn UTSW 10 33,072,097 (GRCm39) missense probably benign
R7601:Trdn UTSW 10 33,072,152 (GRCm39) missense probably benign 0.00
R7743:Trdn UTSW 10 33,133,058 (GRCm39) nonsense probably null
R8114:Trdn UTSW 10 32,959,624 (GRCm39) start gained probably benign
R8220:Trdn UTSW 10 33,326,981 (GRCm39) missense possibly damaging 0.57
R8228:Trdn UTSW 10 33,033,014 (GRCm39) missense probably damaging 1.00
R8329:Trdn UTSW 10 33,320,074 (GRCm39) splice site probably null
R8918:Trdn UTSW 10 33,015,117 (GRCm39) missense probably benign 0.33
R9304:Trdn UTSW 10 33,181,087 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GTACAGTTCTCTTCAGTAGTCAGGG -3'
(R):5'- ATGTCATCTCTTTATGCCAGGC -3'

Sequencing Primer
(F):5'- TGTACAGCATCAGTGAGCCTACTG -3'
(R):5'- GTCATCTCTTTATGCCAGGCAAAATG -3'
Posted On 2018-07-24