Incidental Mutation 'R5186:Trio'
ID 397910
Institutional Source Beutler Lab
Gene Symbol Trio
Ensembl Gene ENSMUSG00000022263
Gene Name triple functional domain (PTPRF interacting)
Synonyms Solo, 6720464I07Rik
MMRRC Submission 042765-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5186 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 27730737-28025934 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27898077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 345 (V345E)
Ref Sequence ENSEMBL: ENSMUSP00000154653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090247] [ENSMUST00000226775] [ENSMUST00000227337]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000090247
AA Change: V404E
SMART Domains Protein: ENSMUSP00000087714
Gene: ENSMUSG00000022263
AA Change: V404E

DomainStartEndE-ValueType
low complexity region 2 40 N/A INTRINSIC
SEC14 68 207 3.4e-26 SMART
SPEC 221 337 2.48e-9 SMART
SPEC 343 445 1.92e-15 SMART
SPEC 569 671 5.35e-14 SMART
SPEC 674 783 1.18e-6 SMART
SPEC 910 1011 2.6e-12 SMART
SPEC 1141 1243 7e-18 SMART
low complexity region 1249 1258 N/A INTRINSIC
RhoGEF 1296 1466 2.79e-53 SMART
PH 1480 1593 1.53e-9 SMART
SH3 1659 1720 1.9e-8 SMART
low complexity region 1788 1802 N/A INTRINSIC
low complexity region 1837 1863 N/A INTRINSIC
low complexity region 1936 1954 N/A INTRINSIC
RhoGEF 1973 2144 1.32e-63 SMART
PH 2158 2273 3.6e-6 SMART
low complexity region 2291 2341 N/A INTRINSIC
low complexity region 2371 2390 N/A INTRINSIC
low complexity region 2491 2503 N/A INTRINSIC
SH3 2558 2619 1.04e0 SMART
low complexity region 2640 2660 N/A INTRINSIC
IGc2 2701 2770 4e-12 SMART
S_TKc 2800 3054 4.84e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226775
Predicted Effect probably damaging
Transcript: ENSMUST00000227337
AA Change: V345E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,982,425 (GRCm39) I6V probably null Het
Aox1 A G 1: 58,107,529 (GRCm39) D601G probably damaging Het
Asic1 GCACC GCACCACC 15: 99,596,684 (GRCm39) probably benign Het
Cacna1g T G 11: 94,333,674 (GRCm39) N931T probably damaging Het
Ccdc14 T C 16: 34,541,955 (GRCm39) F511L probably damaging Het
Cd177 T A 7: 24,444,348 (GRCm39) E710V probably benign Het
Cep112 T C 11: 108,643,386 (GRCm39) C49R probably benign Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Dnah2 T C 11: 69,326,710 (GRCm39) N3575S probably damaging Het
Dnah6 T A 6: 73,044,410 (GRCm39) I3234F probably damaging Het
Eci3 G T 13: 35,130,961 (GRCm39) A302E possibly damaging Het
Fam204a T C 19: 60,188,421 (GRCm39) K214E probably damaging Het
Fam78a T C 2: 31,972,666 (GRCm39) T85A possibly damaging Het
Flnb T C 14: 7,909,748 (GRCm38) Y1401H probably damaging Het
Foxl2 A T 9: 98,838,108 (GRCm39) D132V probably damaging Het
Frs2 C A 10: 116,914,747 (GRCm39) W57C probably damaging Het
Gm26558 G T 2: 70,491,761 (GRCm39) probably benign Het
Gpr139 A G 7: 118,744,063 (GRCm39) V174A probably benign Het
Grik5 T C 7: 24,715,244 (GRCm39) T676A probably damaging Het
H60c T C 10: 3,209,273 (GRCm39) probably null Het
Hspa1l A G 17: 35,197,445 (GRCm39) K495E probably damaging Het
Irgm1 C T 11: 48,757,044 (GRCm39) V256I probably benign Het
Kat7 T A 11: 95,177,242 (GRCm39) T293S probably benign Het
Lipg C T 18: 75,094,009 (GRCm39) V13I probably benign Het
Lrrn1 A T 6: 107,546,185 (GRCm39) Y661F probably damaging Het
Mllt3 A G 4: 87,759,232 (GRCm39) V272A probably benign Het
Mx1 G A 16: 97,256,694 (GRCm39) R162C probably benign Het
Myo18b T A 5: 113,019,336 (GRCm39) D647V probably damaging Het
Naf1 G A 8: 67,332,298 (GRCm39) V329I probably benign Het
Or4k40 A T 2: 111,251,119 (GRCm39) M59K probably damaging Het
Or52u1 A T 7: 104,237,418 (GRCm39) I153F probably damaging Het
Or8g22 A T 9: 38,958,265 (GRCm39) C194* probably null Het
P2rx5 G A 11: 73,062,616 (GRCm39) V442M possibly damaging Het
Pcdhb9 A G 18: 37,534,285 (GRCm39) E93G probably damaging Het
Pcdhga4 A T 18: 37,820,479 (GRCm39) N676I probably benign Het
Pgm5 A G 19: 24,797,492 (GRCm39) M230T probably damaging Het
Pik3c2g T C 6: 139,599,016 (GRCm39) V44A probably damaging Het
Pp2d1 T C 17: 53,815,168 (GRCm39) M519V probably benign Het
Ppp1r10 A G 17: 36,239,403 (GRCm39) E404G probably damaging Het
Prpf8 A T 11: 75,380,609 (GRCm39) E104V possibly damaging Het
Ptpra T C 2: 30,328,367 (GRCm39) probably null Het
Pygl A C 12: 70,248,118 (GRCm39) N248K probably damaging Het
Rbm8a A G 3: 96,538,248 (GRCm39) D102G probably damaging Het
Sema3d A G 5: 12,634,875 (GRCm39) D647G probably benign Het
Serpinb11 A T 1: 107,307,484 (GRCm39) D305V probably damaging Het
Slc12a8 T C 16: 33,437,578 (GRCm39) I337T probably damaging Het
Slc29a2 G A 19: 5,078,995 (GRCm39) R286Q probably benign Het
Slc2a3 T A 6: 122,712,542 (GRCm39) D234V probably damaging Het
Slco4a1 T C 2: 180,114,901 (GRCm39) V608A probably damaging Het
Spata31d1e A T 13: 59,891,553 (GRCm39) L89H probably damaging Het
Srrm2 C T 17: 24,035,561 (GRCm39) T831I probably benign Het
St18 T A 1: 6,872,541 (GRCm39) probably null Het
Tesk2 G C 4: 116,599,093 (GRCm39) G67A probably damaging Het
Tlr1 A T 5: 65,082,564 (GRCm39) L671H probably damaging Het
Tmem63b A T 17: 45,972,403 (GRCm39) Y735N possibly damaging Het
Tmprss11a C T 5: 86,567,938 (GRCm39) C263Y probably damaging Het
Tut7 A G 13: 59,964,470 (GRCm39) probably null Het
Ubr5 A G 15: 37,998,160 (GRCm39) S1674P probably damaging Het
Uchl3 T A 14: 101,933,353 (GRCm39) C209S probably damaging Het
Uhmk1 T C 1: 170,038,736 (GRCm39) N206S probably damaging Het
Uhrf1 C T 17: 56,625,340 (GRCm39) R588W probably damaging Het
Usp28 T C 9: 48,921,550 (GRCm39) V256A probably damaging Het
Utrn C A 10: 12,604,521 (GRCm39) L552F probably damaging Het
Vmn1r55 A T 7: 5,149,985 (GRCm39) M146K probably damaging Het
Vmn1r57 A C 7: 5,224,107 (GRCm39) I211L probably benign Het
Zar1 C T 5: 72,734,742 (GRCm39) C316Y probably damaging Het
Zc3h11a A T 1: 133,549,412 (GRCm39) S750T probably damaging Het
Zfp366 G A 13: 99,382,676 (GRCm39) C613Y probably benign Het
Zfp37 A T 4: 62,109,493 (GRCm39) C524S probably damaging Het
Zfp516 T C 18: 82,975,218 (GRCm39) V472A probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zic1 T C 9: 91,246,424 (GRCm39) Y216C probably damaging Het
Other mutations in Trio
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Trio APN 15 27,912,829 (GRCm39) splice site probably benign
IGL01011:Trio APN 15 27,736,575 (GRCm39) missense probably damaging 0.96
IGL01090:Trio APN 15 27,773,093 (GRCm39) missense probably damaging 1.00
IGL01145:Trio APN 15 27,818,253 (GRCm39) splice site probably benign
IGL01147:Trio APN 15 27,881,406 (GRCm39) missense probably damaging 1.00
IGL01161:Trio APN 15 27,749,867 (GRCm39) missense probably damaging 1.00
IGL01324:Trio APN 15 27,905,409 (GRCm39) missense probably benign 0.42
IGL01352:Trio APN 15 27,901,315 (GRCm39) missense probably benign 0.01
IGL01366:Trio APN 15 27,732,954 (GRCm39) missense possibly damaging 0.76
IGL01443:Trio APN 15 27,838,861 (GRCm39) splice site probably benign
IGL01454:Trio APN 15 27,833,071 (GRCm39) missense probably benign 0.32
IGL01695:Trio APN 15 27,773,087 (GRCm39) missense probably damaging 1.00
IGL01765:Trio APN 15 27,764,112 (GRCm39) missense possibly damaging 0.85
IGL01860:Trio APN 15 27,846,896 (GRCm39) missense probably damaging 1.00
IGL01879:Trio APN 15 27,741,119 (GRCm39) missense probably benign 0.12
IGL01991:Trio APN 15 27,871,360 (GRCm39) missense possibly damaging 0.95
IGL02106:Trio APN 15 27,744,244 (GRCm39) missense possibly damaging 0.85
IGL02209:Trio APN 15 27,744,139 (GRCm39) missense probably damaging 1.00
IGL02232:Trio APN 15 27,902,647 (GRCm39) missense probably benign 0.24
IGL02304:Trio APN 15 27,735,522 (GRCm39) missense probably damaging 0.96
IGL02504:Trio APN 15 27,847,476 (GRCm39) nonsense probably null
IGL02508:Trio APN 15 27,818,190 (GRCm39) missense possibly damaging 0.65
IGL02541:Trio APN 15 27,845,016 (GRCm39) splice site probably benign
IGL02617:Trio APN 15 27,841,935 (GRCm39) splice site probably benign
IGL02675:Trio APN 15 27,768,125 (GRCm39) unclassified probably benign
IGL02817:Trio APN 15 27,902,967 (GRCm39) missense probably benign 0.01
IGL02993:Trio APN 15 27,830,325 (GRCm39) splice site probably benign
IGL03007:Trio APN 15 27,902,828 (GRCm39) missense probably damaging 0.99
IGL03135:Trio APN 15 27,832,097 (GRCm39) splice site probably benign
IGL03225:Trio APN 15 27,902,781 (GRCm39) missense probably benign 0.30
R0063:Trio UTSW 15 27,881,523 (GRCm39) splice site probably benign
R0063:Trio UTSW 15 27,881,523 (GRCm39) splice site probably benign
R0302:Trio UTSW 15 27,902,603 (GRCm39) missense probably damaging 1.00
R0505:Trio UTSW 15 27,767,993 (GRCm39) missense probably benign 0.00
R0506:Trio UTSW 15 27,855,049 (GRCm39) missense probably benign 0.12
R0564:Trio UTSW 15 27,805,908 (GRCm39) missense probably damaging 1.00
R0659:Trio UTSW 15 27,831,485 (GRCm39) missense probably damaging 0.97
R0882:Trio UTSW 15 27,732,980 (GRCm39) missense probably damaging 1.00
R0939:Trio UTSW 15 27,741,336 (GRCm39) critical splice donor site probably null
R1018:Trio UTSW 15 27,871,257 (GRCm39) missense probably damaging 1.00
R1439:Trio UTSW 15 27,898,000 (GRCm39) missense probably damaging 1.00
R1456:Trio UTSW 15 27,753,890 (GRCm39) splice site probably benign
R1488:Trio UTSW 15 27,741,053 (GRCm39) missense probably damaging 1.00
R1522:Trio UTSW 15 27,732,726 (GRCm39) missense probably benign 0.28
R1531:Trio UTSW 15 27,833,071 (GRCm39) missense probably benign 0.32
R1640:Trio UTSW 15 27,833,130 (GRCm39) missense probably damaging 1.00
R1646:Trio UTSW 15 27,758,433 (GRCm39) missense possibly damaging 0.91
R1682:Trio UTSW 15 27,744,232 (GRCm39) splice site probably null
R1780:Trio UTSW 15 27,744,124 (GRCm39) missense possibly damaging 0.93
R1791:Trio UTSW 15 27,841,842 (GRCm39) missense probably damaging 1.00
R1803:Trio UTSW 15 27,748,426 (GRCm39) missense probably benign
R1817:Trio UTSW 15 27,742,581 (GRCm39) nonsense probably null
R1853:Trio UTSW 15 27,756,622 (GRCm39) missense probably damaging 1.00
R1898:Trio UTSW 15 27,742,466 (GRCm39) missense possibly damaging 0.52
R1937:Trio UTSW 15 27,833,142 (GRCm39) missense probably damaging 1.00
R1938:Trio UTSW 15 27,732,977 (GRCm39) missense probably damaging 0.98
R2025:Trio UTSW 15 27,774,013 (GRCm39) missense probably damaging 1.00
R2025:Trio UTSW 15 27,744,223 (GRCm39) missense probably damaging 0.99
R2050:Trio UTSW 15 27,852,031 (GRCm39) missense possibly damaging 0.85
R2186:Trio UTSW 15 27,824,061 (GRCm39) splice site probably null
R2913:Trio UTSW 15 27,854,998 (GRCm39) missense probably damaging 1.00
R3151:Trio UTSW 15 27,805,862 (GRCm39) missense probably damaging 1.00
R3771:Trio UTSW 15 27,748,177 (GRCm39) missense probably damaging 0.98
R3773:Trio UTSW 15 27,748,177 (GRCm39) missense probably damaging 0.98
R3826:Trio UTSW 15 27,833,156 (GRCm39) missense probably damaging 1.00
R4015:Trio UTSW 15 27,744,187 (GRCm39) missense possibly damaging 0.71
R4359:Trio UTSW 15 27,749,883 (GRCm39) nonsense probably null
R4370:Trio UTSW 15 27,748,423 (GRCm39) nonsense probably null
R4547:Trio UTSW 15 27,819,068 (GRCm39) missense possibly damaging 0.89
R4573:Trio UTSW 15 27,773,084 (GRCm39) small deletion probably benign
R4620:Trio UTSW 15 27,871,257 (GRCm39) missense probably damaging 1.00
R4735:Trio UTSW 15 27,752,875 (GRCm39) splice site probably null
R4764:Trio UTSW 15 27,732,624 (GRCm39) nonsense probably null
R4775:Trio UTSW 15 27,881,428 (GRCm39) nonsense probably null
R4942:Trio UTSW 15 27,752,811 (GRCm39) missense probably benign 0.21
R5004:Trio UTSW 15 27,755,264 (GRCm39) missense probably damaging 1.00
R5149:Trio UTSW 15 27,754,115 (GRCm39) missense possibly damaging 0.74
R5183:Trio UTSW 15 27,902,686 (GRCm39) missense probably benign 0.00
R5268:Trio UTSW 15 27,748,372 (GRCm39) missense probably benign 0.02
R5344:Trio UTSW 15 27,735,618 (GRCm39) missense probably benign 0.12
R5407:Trio UTSW 15 27,844,892 (GRCm39) splice site probably null
R5442:Trio UTSW 15 27,856,280 (GRCm39) missense probably benign 0.04
R5617:Trio UTSW 15 27,902,834 (GRCm39) missense probably benign
R5778:Trio UTSW 15 27,856,250 (GRCm39) missense probably benign 0.33
R5986:Trio UTSW 15 27,852,019 (GRCm39) missense possibly damaging 0.88
R5990:Trio UTSW 15 27,891,545 (GRCm39) missense probably benign 0.10
R6011:Trio UTSW 15 27,735,631 (GRCm39) missense probably damaging 0.98
R6063:Trio UTSW 15 27,891,465 (GRCm39) missense possibly damaging 0.94
R6166:Trio UTSW 15 27,818,157 (GRCm39) missense probably damaging 0.96
R6187:Trio UTSW 15 27,744,038 (GRCm39) critical splice donor site probably null
R6387:Trio UTSW 15 27,752,825 (GRCm39) missense probably damaging 1.00
R6402:Trio UTSW 15 27,902,997 (GRCm39) missense probably benign 0.02
R6478:Trio UTSW 15 27,856,193 (GRCm39) missense probably benign 0.01
R6528:Trio UTSW 15 27,805,956 (GRCm39) missense probably damaging 1.00
R6662:Trio UTSW 15 27,855,082 (GRCm39) missense probably benign 0.00
R6825:Trio UTSW 15 27,889,394 (GRCm39) missense probably damaging 0.98
R6890:Trio UTSW 15 27,919,374 (GRCm39) unclassified probably benign
R6945:Trio UTSW 15 27,824,176 (GRCm39) missense probably damaging 1.00
R7027:Trio UTSW 15 27,805,740 (GRCm39) missense possibly damaging 0.86
R7046:Trio UTSW 15 27,832,137 (GRCm39) missense probably damaging 1.00
R7049:Trio UTSW 15 27,749,885 (GRCm39) missense possibly damaging 0.66
R7075:Trio UTSW 15 27,898,086 (GRCm39) missense unknown
R7094:Trio UTSW 15 27,891,534 (GRCm39) missense unknown
R7123:Trio UTSW 15 27,742,399 (GRCm39) critical splice donor site probably benign
R7130:Trio UTSW 15 27,742,399 (GRCm39) critical splice donor site probably benign
R7214:Trio UTSW 15 27,871,273 (GRCm39) missense probably damaging 0.97
R7292:Trio UTSW 15 27,828,437 (GRCm39) missense possibly damaging 0.63
R7293:Trio UTSW 15 27,871,375 (GRCm39) missense possibly damaging 0.66
R7352:Trio UTSW 15 27,732,962 (GRCm39) missense probably damaging 0.96
R7426:Trio UTSW 15 27,856,193 (GRCm39) missense probably benign 0.01
R7451:Trio UTSW 15 27,747,999 (GRCm39) missense probably benign 0.07
R7558:Trio UTSW 15 27,831,480 (GRCm39) missense possibly damaging 0.90
R7578:Trio UTSW 15 27,855,025 (GRCm39) missense possibly damaging 0.94
R7596:Trio UTSW 15 27,749,912 (GRCm39) missense probably damaging 0.99
R7604:Trio UTSW 15 27,736,531 (GRCm39) critical splice donor site probably null
R7609:Trio UTSW 15 27,912,728 (GRCm39) missense unknown
R7767:Trio UTSW 15 27,889,504 (GRCm39) missense unknown
R7784:Trio UTSW 15 27,764,080 (GRCm39) missense probably damaging 1.00
R7817:Trio UTSW 15 27,749,952 (GRCm39) missense probably benign 0.35
R7833:Trio UTSW 15 27,774,172 (GRCm39) missense probably damaging 0.99
R7873:Trio UTSW 15 27,805,770 (GRCm39) missense possibly damaging 0.83
R7879:Trio UTSW 15 27,852,010 (GRCm39) missense possibly damaging 0.94
R7989:Trio UTSW 15 27,773,021 (GRCm39) missense probably damaging 0.97
R8022:Trio UTSW 15 27,749,952 (GRCm39) missense probably benign 0.35
R8050:Trio UTSW 15 27,891,540 (GRCm39) missense unknown
R8217:Trio UTSW 15 27,819,055 (GRCm39) missense probably damaging 0.97
R8280:Trio UTSW 15 27,902,996 (GRCm39) missense unknown
R8283:Trio UTSW 15 27,756,628 (GRCm39) missense possibly damaging 0.79
R8300:Trio UTSW 15 27,855,108 (GRCm39) missense possibly damaging 0.66
R8321:Trio UTSW 15 27,881,412 (GRCm39) missense possibly damaging 0.90
R8477:Trio UTSW 15 27,774,038 (GRCm39) missense possibly damaging 0.83
R8479:Trio UTSW 15 27,901,286 (GRCm39) missense probably benign 0.25
R8682:Trio UTSW 15 27,905,278 (GRCm39) missense unknown
R8688:Trio UTSW 15 27,748,324 (GRCm39) missense possibly damaging 0.61
R8708:Trio UTSW 15 27,732,632 (GRCm39) missense probably damaging 0.99
R8709:Trio UTSW 15 27,919,323 (GRCm39) missense unknown
R8713:Trio UTSW 15 27,744,037 (GRCm39) critical splice donor site probably benign
R8798:Trio UTSW 15 27,851,923 (GRCm39) missense possibly damaging 0.92
R8812:Trio UTSW 15 27,905,311 (GRCm39) missense unknown
R8816:Trio UTSW 15 27,741,357 (GRCm39) missense probably damaging 0.96
R8828:Trio UTSW 15 27,741,150 (GRCm39) missense possibly damaging 0.93
R8987:Trio UTSW 15 27,732,773 (GRCm39) missense probably benign 0.23
R9051:Trio UTSW 15 27,732,770 (GRCm39) missense possibly damaging 0.78
R9069:Trio UTSW 15 27,852,097 (GRCm39) missense possibly damaging 0.83
R9075:Trio UTSW 15 27,774,022 (GRCm39) nonsense probably null
R9079:Trio UTSW 15 27,733,023 (GRCm39) missense possibly damaging 0.52
R9139:Trio UTSW 15 27,749,922 (GRCm39) nonsense probably null
R9494:Trio UTSW 15 27,846,843 (GRCm39) missense probably benign 0.00
R9680:Trio UTSW 15 27,744,158 (GRCm39) missense possibly damaging 0.93
R9720:Trio UTSW 15 27,847,495 (GRCm39) missense probably benign 0.00
R9726:Trio UTSW 15 27,912,752 (GRCm39) missense unknown
X0024:Trio UTSW 15 27,765,812 (GRCm39) missense possibly damaging 0.91
Z1176:Trio UTSW 15 27,771,473 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTTACACAAGATGGCAGGGG -3'
(R):5'- CTTGACATAGGTACCAGGTGG -3'

Sequencing Primer
(F):5'- GGCACGGGATCTGGCTC -3'
(R):5'- TGGTGCTGCTCGTAGCC -3'
Posted On 2016-07-06