Incidental Mutation 'R5986:Trio'
ID 481675
Institutional Source Beutler Lab
Gene Symbol Trio
Ensembl Gene ENSMUSG00000022263
Gene Name triple functional domain (PTPRF interacting)
Synonyms Solo, 6720464I07Rik
MMRRC Submission 044166-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5986 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 27730737-28025934 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 27852019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 765 (A765E)
Ref Sequence ENSEMBL: ENSMUSP00000154653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090247] [ENSMUST00000227337]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000090247
AA Change: A824E

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000087714
Gene: ENSMUSG00000022263
AA Change: A824E

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 noncoding transcript
Transcript: ENSMUST00000226580
Predicted Effect possibly damaging
Transcript: ENSMUST00000227337
AA Change: A765E

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228765
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A T 3: 116,566,145 (GRCm39) F992I probably damaging Het
Ampd1 T C 3: 102,992,713 (GRCm39) F152L probably damaging Het
Ank2 T C 3: 126,806,335 (GRCm39) H602R possibly damaging Het
Ankib1 T C 5: 3,797,071 (GRCm39) D247G probably damaging Het
Bccip T A 7: 133,322,594 (GRCm39) H313Q probably benign Het
Ccdc198 A T 14: 49,470,403 (GRCm39) L172H probably damaging Het
Cep250 A G 2: 155,821,197 (GRCm39) E929G probably damaging Het
Chl1 C A 6: 103,686,152 (GRCm39) L954I probably benign Het
Cog5 A T 12: 31,710,716 (GRCm39) D32V probably benign Het
Cyp4f16 C A 17: 32,763,116 (GRCm39) A187E probably benign Het
Dffb A T 4: 154,050,050 (GRCm39) V271E probably damaging Het
Dnah8 A G 17: 31,070,604 (GRCm39) Y4430C possibly damaging Het
Dpp3 T C 19: 4,968,385 (GRCm39) E229G probably benign Het
Fat3 T A 9: 15,909,613 (GRCm39) N2130Y probably benign Het
Kcnk3 T C 5: 30,745,722 (GRCm39) V21A possibly damaging Het
Kif9 G A 9: 110,319,094 (GRCm39) S186N probably benign Het
Lhfpl3 C A 5: 22,951,424 (GRCm39) N78K probably benign Het
Ly6c1 A G 15: 74,917,457 (GRCm39) S64P probably damaging Het
Mapk10 T C 5: 103,186,446 (GRCm39) T59A probably benign Het
Mars1 A T 10: 127,140,171 (GRCm39) C394* probably null Het
Mettl16 T A 11: 74,683,063 (GRCm39) D168E possibly damaging Het
Mgat2 A T 12: 69,232,158 (GRCm39) Q244L probably benign Het
Mrps30 A G 13: 118,521,101 (GRCm39) probably null Het
Myrip C A 9: 120,290,487 (GRCm39) A702E probably damaging Het
Nepn T C 10: 52,280,168 (GRCm39) L420P probably damaging Het
Nrn1 A T 13: 36,918,238 (GRCm39) Y9* probably null Het
Nup107 T C 10: 117,595,081 (GRCm39) Y752C probably damaging Het
Nutm2 A T 13: 50,628,496 (GRCm39) D520V probably damaging Het
Olfm2 C T 9: 20,586,946 (GRCm39) C48Y probably damaging Het
Or52j3 T C 7: 102,836,735 (GRCm39) F309S possibly damaging Het
Or8g19 A G 9: 39,056,278 (GRCm39) N294S probably null Het
Osbpl1a T A 18: 13,038,138 (GRCm39) D271V probably damaging Het
Osmr G T 15: 6,873,934 (GRCm39) D154E probably benign Het
Pcdh9 A G 14: 94,124,484 (GRCm39) V562A probably damaging Het
Peak1 A C 9: 56,166,726 (GRCm39) S401A probably benign Het
Pigk A T 3: 152,446,486 (GRCm39) H195L probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Ppp2r1a C T 17: 21,171,608 (GRCm39) R28C probably damaging Het
Pramel30 G T 4: 144,059,323 (GRCm39) V345F probably damaging Het
Ptbp3 T C 4: 59,493,311 (GRCm39) D123G probably benign Het
Ptgr2 G A 12: 84,355,120 (GRCm39) E285K possibly damaging Het
Rassf1 G T 9: 107,429,021 (GRCm39) V76L possibly damaging Het
Sec22a A G 16: 35,134,461 (GRCm39) V307A probably damaging Het
Skint5 C T 4: 113,852,845 (GRCm39) V18I probably benign Het
Slc1a5 T C 7: 16,516,151 (GRCm39) V109A probably benign Het
St8sia5 T A 18: 77,342,478 (GRCm39) M396K possibly damaging Het
Tiam1 T C 16: 89,586,074 (GRCm39) E602G probably benign Het
Tll1 T C 8: 64,527,297 (GRCm39) E408G probably damaging Het
Tpsb2 G A 17: 25,586,108 (GRCm39) V109M probably benign Het
Trib1 T A 15: 59,526,451 (GRCm39) probably null Het
Uggt2 A T 14: 119,286,838 (GRCm39) V193E probably damaging Het
Vmn1r115 G A 7: 20,578,447 (GRCm39) P155L probably benign Het
Wdr31 A G 4: 62,374,113 (GRCm39) L292S probably benign Het
Xrra1 T C 7: 99,525,462 (GRCm39) I127T probably benign Het
Yju2 G A 17: 56,269,030 (GRCm39) C46Y probably damaging Het
Zfp442 G A 2: 150,249,944 (GRCm39) Q596* probably null 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
R5186:Trio UTSW 15 27,898,077 (GRCm39) missense probably damaging 0.97
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
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'- AGAATCCATGTTGGCAGGTAATGG -3'
(R):5'- ACCCATGATGGTTGGCTGTC -3'

Sequencing Primer
(F):5'- AGAAGCTGTGGCACTTATAGTCC -3'
(R):5'- GCTGTCCGTTGACTCACAGTG -3'
Posted On 2017-06-26