Incidental Mutation 'R2351:Triobp'
ID 246165
Institutional Source Beutler Lab
Gene Symbol Triobp
Ensembl Gene ENSMUSG00000033088
Gene Name TRIO and F-actin binding protein
Synonyms EST478828, Mus EST 478828, Tara
MMRRC Submission 040333-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2351 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 78831924-78890069 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78888780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 1962 (V1962M)
Ref Sequence ENSEMBL: ENSMUSP00000105311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109687] [ENSMUST00000109688] [ENSMUST00000109689] [ENSMUST00000109690]
AlphaFold Q99KW3
Predicted Effect probably benign
Transcript: ENSMUST00000109687
AA Change: V621M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000105309
Gene: ENSMUSG00000033088
AA Change: V621M

DomainStartEndE-ValueType
PH 7 104 6.2e-19 SMART
coiled coil region 277 304 N/A INTRINSIC
coiled coil region 339 377 N/A INTRINSIC
coiled coil region 401 463 N/A INTRINSIC
coiled coil region 497 576 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109688
SMART Domains Protein: ENSMUSP00000105310
Gene: ENSMUSG00000033088

DomainStartEndE-ValueType
low complexity region 6 21 N/A INTRINSIC
low complexity region 30 47 N/A INTRINSIC
PH 54 151 6.2e-19 SMART
coiled coil region 324 351 N/A INTRINSIC
coiled coil region 386 424 N/A INTRINSIC
coiled coil region 448 510 N/A INTRINSIC
coiled coil region 544 623 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109689
AA Change: V1962M

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000105311
Gene: ENSMUSG00000033088
AA Change: V1962M

DomainStartEndE-ValueType
low complexity region 130 154 N/A INTRINSIC
low complexity region 291 311 N/A INTRINSIC
internal_repeat_1 312 394 7.43e-13 PROSPERO
internal_repeat_1 390 540 7.43e-13 PROSPERO
low complexity region 585 600 N/A INTRINSIC
low complexity region 638 657 N/A INTRINSIC
low complexity region 697 729 N/A INTRINSIC
low complexity region 767 777 N/A INTRINSIC
low complexity region 885 901 N/A INTRINSIC
low complexity region 903 923 N/A INTRINSIC
low complexity region 995 1017 N/A INTRINSIC
low complexity region 1054 1068 N/A INTRINSIC
low complexity region 1221 1235 N/A INTRINSIC
PH 1395 1492 6.2e-19 SMART
coiled coil region 1665 1692 N/A INTRINSIC
coiled coil region 1727 1765 N/A INTRINSIC
coiled coil region 1789 1851 N/A INTRINSIC
coiled coil region 1885 1964 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109690
AA Change: V2008M

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105312
Gene: ENSMUSG00000033088
AA Change: V2008M

DomainStartEndE-ValueType
low complexity region 130 154 N/A INTRINSIC
low complexity region 291 311 N/A INTRINSIC
internal_repeat_1 312 394 9.24e-13 PROSPERO
internal_repeat_1 390 540 9.24e-13 PROSPERO
low complexity region 585 600 N/A INTRINSIC
low complexity region 638 657 N/A INTRINSIC
low complexity region 697 729 N/A INTRINSIC
low complexity region 767 777 N/A INTRINSIC
low complexity region 885 901 N/A INTRINSIC
low complexity region 903 923 N/A INTRINSIC
low complexity region 995 1017 N/A INTRINSIC
low complexity region 1054 1068 N/A INTRINSIC
low complexity region 1221 1235 N/A INTRINSIC
PH 1441 1538 6.2e-19 SMART
coiled coil region 1711 1738 N/A INTRINSIC
coiled coil region 1773 1811 N/A INTRINSIC
coiled coil region 1835 1897 N/A INTRINSIC
coiled coil region 1931 2010 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230425
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility, and cell growth. The encoded protein also associates with F-actin and stabilizes F-actin structures. Domains contained in this encoded protein are an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. Mutations in the human gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants have been described [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for gene trapped alleles exhibit embryonic lethality. Mice homozygous for a targeted allele eliminating isoforms 4 and 5 exhibit profound deafness associated with stereocilia fragility and degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,779,846 (GRCm39) Y135* probably null Het
Aadacl4fm1 A T 4: 144,255,348 (GRCm39) Y256F probably damaging Het
Acad10 A T 5: 121,767,990 (GRCm39) I820K probably benign Het
Arl8b A T 6: 108,798,484 (GRCm39) I178F possibly damaging Het
Asap1 A T 15: 64,007,653 (GRCm39) probably null Het
Atp2b2 A T 6: 113,766,718 (GRCm39) I552N possibly damaging Het
C130074G19Rik G T 1: 184,615,060 (GRCm39) D43E probably benign Het
Ccdc162 C A 10: 41,431,968 (GRCm39) probably null Het
Ccdc186 T G 19: 56,787,129 (GRCm39) K613T possibly damaging Het
Cggbp1 T A 16: 64,676,046 (GRCm39) D37E possibly damaging Het
Cntn3 A T 6: 102,314,344 (GRCm39) N123K possibly damaging Het
Col18a1 C T 10: 76,948,538 (GRCm39) G325S probably benign Het
Cwc25 G T 11: 97,638,218 (GRCm39) T405K probably damaging Het
Cyp4a31 T C 4: 115,428,510 (GRCm39) V370A possibly damaging Het
Cyp4f13 T G 17: 33,144,570 (GRCm39) I309L probably benign Het
Dap3 A T 3: 88,840,870 (GRCm39) probably null Het
Dchs1 G T 7: 105,403,301 (GRCm39) D3080E probably benign Het
Ern2 A G 7: 121,770,731 (GRCm39) V762A probably damaging Het
Fgr C T 4: 132,724,548 (GRCm39) R255C probably damaging Het
Gcm2 A T 13: 41,257,094 (GRCm39) D218E probably benign Het
Gfi1 A G 5: 107,869,640 (GRCm39) S131P probably damaging Het
Grm8 A T 6: 28,126,118 (GRCm39) C3S possibly damaging Het
Gucy2d A G 7: 98,113,226 (GRCm39) D840G probably benign Het
H3f3a T C 1: 180,637,723 (GRCm39) T81A probably benign Het
Igsf23 C T 7: 19,678,723 (GRCm39) W22* probably null Het
Il12rb2 G A 6: 67,338,928 (GRCm39) Q3* probably null Het
Ino80d A T 1: 63,124,994 (GRCm39) L156H probably benign Het
Kdm2a G A 19: 4,379,154 (GRCm39) P554S probably benign Het
Lefty1 T A 1: 180,764,807 (GRCm39) L244H possibly damaging Het
Mdn1 T A 4: 32,750,010 (GRCm39) S4398T probably benign Het
Myh10 A G 11: 68,683,965 (GRCm39) D1126G probably damaging Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Myom1 A T 17: 71,341,574 (GRCm39) D111V probably damaging Het
Naip6 T A 13: 100,420,169 (GRCm39) D1367V probably damaging Het
Nbeal1 A T 1: 60,276,257 (GRCm39) H666L possibly damaging Het
Nsmaf T A 4: 6,437,921 (GRCm39) I77F probably damaging Het
Nvl T C 1: 180,958,357 (GRCm39) T231A probably benign Het
Obscn T C 11: 59,003,438 (GRCm39) R1287G probably damaging Het
Opn3 T C 1: 175,520,077 (GRCm39) D9G probably benign Het
Or4a81 T C 2: 89,619,522 (GRCm39) Y58C probably damaging Het
Or4c114 C T 2: 88,904,743 (GRCm39) G231S possibly damaging Het
Or6a2 A T 7: 106,600,883 (GRCm39) Y61* probably null Het
Or6c8b A G 10: 128,882,797 (GRCm39) V45A probably benign Het
Or6k2 T A 1: 173,986,486 (GRCm39) V49D probably damaging Het
Or8k24 C T 2: 86,216,471 (GRCm39) C97Y probably damaging Het
Parp10 A T 15: 76,127,056 (GRCm39) S101R probably benign Het
Pdhx T A 2: 102,854,562 (GRCm39) K399* probably null Het
Pdia4 A T 6: 47,773,848 (GRCm39) probably null Het
Pla2g4f T C 2: 120,130,923 (GRCm39) D844G probably benign Het
Prtg C A 9: 72,764,106 (GRCm39) D526E probably damaging Het
Rassf6 T C 5: 90,779,418 (GRCm39) D5G probably benign Het
Riok3 C T 18: 12,282,724 (GRCm39) Q388* probably null Het
Robo4 T A 9: 37,322,956 (GRCm39) F825L probably benign Het
Rpl13a-ps1 C T 19: 50,018,868 (GRCm39) E103K probably benign Het
Rpl18a A T 8: 71,348,864 (GRCm39) H37Q probably benign Het
Ryr1 A T 7: 28,774,718 (GRCm39) S2301T probably benign Het
Slc39a9 T A 12: 80,691,660 (GRCm39) D2E possibly damaging Het
Slco5a1 C T 1: 13,060,158 (GRCm39) V188I probably benign Het
Son T A 16: 91,454,547 (GRCm39) M1098K probably damaging Het
Spag9 A G 11: 93,983,726 (GRCm39) D701G probably damaging Het
Ssmem1 T C 6: 30,512,495 (GRCm39) F46S possibly damaging Het
Sspo C T 6: 48,441,803 (GRCm39) R1938W probably damaging Het
Sstr3 T C 15: 78,424,121 (GRCm39) I209V probably benign Het
Tlk2 A G 11: 105,100,656 (GRCm39) Y87C probably damaging Het
Traf4 G A 11: 78,051,002 (GRCm39) R385W probably damaging Het
Tspan12 T G 6: 21,835,506 (GRCm39) I56L probably benign Het
Upp2 T A 2: 58,653,674 (GRCm39) probably null Het
Vps13b T C 15: 35,869,457 (GRCm39) W2654R probably damaging Het
Zc3h18 C T 8: 123,129,926 (GRCm39) R435* probably null Het
Zfta T C 19: 7,399,609 (GRCm39) I247T probably damaging Het
Other mutations in Triobp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Triobp APN 15 78,877,568 (GRCm39) missense probably damaging 1.00
IGL01904:Triobp APN 15 78,851,564 (GRCm39) missense possibly damaging 0.80
IGL01957:Triobp APN 15 78,856,847 (GRCm39) critical splice donor site probably null
IGL02085:Triobp APN 15 78,858,497 (GRCm39) splice site probably benign
IGL02260:Triobp APN 15 78,850,562 (GRCm39) missense probably benign 0.00
IGL02498:Triobp APN 15 78,845,243 (GRCm39) missense probably benign 0.01
IGL02551:Triobp APN 15 78,857,689 (GRCm39) missense probably benign
IGL02740:Triobp APN 15 78,850,889 (GRCm39) missense probably benign 0.21
IGL02810:Triobp APN 15 78,886,403 (GRCm39) missense possibly damaging 0.95
IGL03063:Triobp APN 15 78,875,084 (GRCm39) missense probably damaging 1.00
FR4304:Triobp UTSW 15 78,877,587 (GRCm39) unclassified probably benign
FR4340:Triobp UTSW 15 78,877,590 (GRCm39) unclassified probably benign
FR4342:Triobp UTSW 15 78,877,592 (GRCm39) unclassified probably benign
FR4449:Triobp UTSW 15 78,877,589 (GRCm39) unclassified probably benign
FR4548:Triobp UTSW 15 78,877,590 (GRCm39) unclassified probably benign
FR4548:Triobp UTSW 15 78,877,587 (GRCm39) unclassified probably benign
R0276:Triobp UTSW 15 78,857,876 (GRCm39) missense probably benign 0.09
R0309:Triobp UTSW 15 78,860,740 (GRCm39) missense probably damaging 1.00
R0433:Triobp UTSW 15 78,852,401 (GRCm39) missense possibly damaging 0.69
R0464:Triobp UTSW 15 78,851,186 (GRCm39) missense possibly damaging 0.71
R0525:Triobp UTSW 15 78,858,098 (GRCm39) missense possibly damaging 0.93
R0665:Triobp UTSW 15 78,858,098 (GRCm39) missense possibly damaging 0.93
R0689:Triobp UTSW 15 78,844,188 (GRCm39) nonsense probably null
R1149:Triobp UTSW 15 78,850,679 (GRCm39) missense probably benign 0.00
R1149:Triobp UTSW 15 78,850,679 (GRCm39) missense probably benign 0.00
R1151:Triobp UTSW 15 78,850,679 (GRCm39) missense probably benign 0.00
R1152:Triobp UTSW 15 78,850,679 (GRCm39) missense probably benign 0.00
R1510:Triobp UTSW 15 78,887,967 (GRCm39) missense probably damaging 1.00
R1519:Triobp UTSW 15 78,857,938 (GRCm39) missense probably benign 0.00
R1642:Triobp UTSW 15 78,886,348 (GRCm39) missense probably damaging 1.00
R1732:Triobp UTSW 15 78,851,428 (GRCm39) missense possibly damaging 0.69
R1755:Triobp UTSW 15 78,850,679 (GRCm39) missense probably benign 0.00
R1975:Triobp UTSW 15 78,850,908 (GRCm39) missense probably benign
R2051:Triobp UTSW 15 78,888,740 (GRCm39) missense probably damaging 1.00
R2073:Triobp UTSW 15 78,858,095 (GRCm39) missense probably damaging 0.99
R2260:Triobp UTSW 15 78,875,640 (GRCm39) critical splice donor site probably null
R2902:Triobp UTSW 15 78,857,618 (GRCm39) missense possibly damaging 0.90
R3801:Triobp UTSW 15 78,857,900 (GRCm39) missense probably benign 0.04
R3959:Triobp UTSW 15 78,886,589 (GRCm39) nonsense probably null
R4003:Triobp UTSW 15 78,844,177 (GRCm39) unclassified probably benign
R4084:Triobp UTSW 15 78,857,871 (GRCm39) missense probably benign 0.19
R4482:Triobp UTSW 15 78,850,763 (GRCm39) missense possibly damaging 0.87
R4592:Triobp UTSW 15 78,851,295 (GRCm39) missense probably benign
R4662:Triobp UTSW 15 78,877,469 (GRCm39) missense probably damaging 1.00
R4732:Triobp UTSW 15 78,851,313 (GRCm39) missense probably damaging 0.99
R4733:Triobp UTSW 15 78,851,313 (GRCm39) missense probably damaging 0.99
R4789:Triobp UTSW 15 78,875,228 (GRCm39) missense probably damaging 1.00
R4968:Triobp UTSW 15 78,850,816 (GRCm39) missense probably benign 0.03
R4990:Triobp UTSW 15 78,851,205 (GRCm39) missense probably benign 0.00
R5129:Triobp UTSW 15 78,845,296 (GRCm39) missense probably benign 0.15
R5181:Triobp UTSW 15 78,851,954 (GRCm39) missense probably benign 0.00
R5279:Triobp UTSW 15 78,878,591 (GRCm39) missense possibly damaging 0.66
R5584:Triobp UTSW 15 78,852,332 (GRCm39) missense possibly damaging 0.89
R5601:Triobp UTSW 15 78,857,833 (GRCm39) missense probably damaging 1.00
R5810:Triobp UTSW 15 78,852,467 (GRCm39) missense probably benign 0.07
R5969:Triobp UTSW 15 78,851,740 (GRCm39) missense probably benign 0.05
R6722:Triobp UTSW 15 78,885,765 (GRCm39) missense probably damaging 1.00
R6739:Triobp UTSW 15 78,850,566 (GRCm39) missense possibly damaging 0.77
R6810:Triobp UTSW 15 78,850,815 (GRCm39) missense possibly damaging 0.47
R7011:Triobp UTSW 15 78,862,923 (GRCm39) missense probably damaging 0.98
R7015:Triobp UTSW 15 78,878,260 (GRCm39) missense probably damaging 0.99
R7200:Triobp UTSW 15 78,851,042 (GRCm39) small deletion probably benign
R7294:Triobp UTSW 15 78,858,176 (GRCm39) missense probably damaging 0.99
R7688:Triobp UTSW 15 78,845,311 (GRCm39) splice site probably null
R7805:Triobp UTSW 15 78,858,204 (GRCm39) missense probably benign 0.37
R7972:Triobp UTSW 15 78,852,186 (GRCm39) missense probably damaging 1.00
R7977:Triobp UTSW 15 78,885,744 (GRCm39) missense probably damaging 1.00
R7987:Triobp UTSW 15 78,885,744 (GRCm39) missense probably damaging 1.00
R7999:Triobp UTSW 15 78,844,144 (GRCm39) missense probably damaging 0.99
R8344:Triobp UTSW 15 78,842,475 (GRCm39) missense possibly damaging 0.67
R8348:Triobp UTSW 15 78,878,326 (GRCm39) missense possibly damaging 0.85
R8446:Triobp UTSW 15 78,878,326 (GRCm39) missense possibly damaging 0.85
R8448:Triobp UTSW 15 78,878,326 (GRCm39) missense possibly damaging 0.85
R8469:Triobp UTSW 15 78,851,219 (GRCm39) missense probably benign 0.00
R8491:Triobp UTSW 15 78,878,326 (GRCm39) missense possibly damaging 0.85
R8492:Triobp UTSW 15 78,878,326 (GRCm39) missense possibly damaging 0.85
R8493:Triobp UTSW 15 78,878,326 (GRCm39) missense possibly damaging 0.85
R9424:Triobp UTSW 15 78,844,266 (GRCm39) missense probably damaging 1.00
R9495:Triobp UTSW 15 78,877,378 (GRCm39) missense probably damaging 1.00
R9514:Triobp UTSW 15 78,877,378 (GRCm39) missense probably damaging 1.00
R9530:Triobp UTSW 15 78,886,321 (GRCm39) missense probably damaging 1.00
R9550:Triobp UTSW 15 78,858,077 (GRCm39) missense probably damaging 1.00
R9576:Triobp UTSW 15 78,844,266 (GRCm39) missense probably damaging 1.00
R9646:Triobp UTSW 15 78,887,934 (GRCm39) missense probably damaging 1.00
RF001:Triobp UTSW 15 78,851,227 (GRCm39) small insertion probably benign
RF005:Triobp UTSW 15 78,851,261 (GRCm39) small insertion probably benign
RF007:Triobp UTSW 15 78,851,244 (GRCm39) small insertion probably benign
RF022:Triobp UTSW 15 78,858,482 (GRCm39) missense probably benign 0.05
RF028:Triobp UTSW 15 78,851,239 (GRCm39) small insertion probably benign
RF032:Triobp UTSW 15 78,851,236 (GRCm39) small insertion probably benign
RF035:Triobp UTSW 15 78,851,239 (GRCm39) small insertion probably benign
RF039:Triobp UTSW 15 78,851,239 (GRCm39) small insertion probably benign
RF039:Triobp UTSW 15 78,851,236 (GRCm39) small insertion probably benign
RF040:Triobp UTSW 15 78,851,263 (GRCm39) small insertion probably benign
RF049:Triobp UTSW 15 78,851,261 (GRCm39) small insertion probably benign
RF051:Triobp UTSW 15 78,851,234 (GRCm39) small insertion probably benign
RF058:Triobp UTSW 15 78,851,244 (GRCm39) small insertion probably benign
X0026:Triobp UTSW 15 78,844,223 (GRCm39) missense possibly damaging 0.94
Z1177:Triobp UTSW 15 78,886,381 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGACAATGAAATCTCCATCACTGG -3'
(R):5'- CTGGGGACAAACATGCACAG -3'

Sequencing Primer
(F):5'- CTACCAGCAGGGGCAAAGTG -3'
(R):5'- CATGCACAGGTTGACAGAAC -3'
Posted On 2014-10-30