Incidental Mutation 'R7046:Trio'
ID 547340
Institutional Source Beutler Lab
Gene Symbol Trio
Ensembl Gene ENSMUSG00000022263
Gene Name triple functional domain (PTPRF interacting)
Synonyms Solo, 6720464I07Rik
MMRRC Submission 045144-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7046 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 27730737-28025934 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27832137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1245 (E1245G)
Ref Sequence ENSEMBL: ENSMUSP00000154653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090247] [ENSMUST00000226644] [ENSMUST00000227337]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000090247
AA Change: E1304G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000087714
Gene: ENSMUSG00000022263
AA Change: E1304G

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 damaging
Transcript: ENSMUST00000226644
AA Change: E160G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227337
AA Change: E1245G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9634 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,772,364 (GRCm39) Y805C probably damaging Het
Aoc1l3 T A 6: 48,964,512 (GRCm39) D173E probably benign Het
Cabp7 T A 11: 4,688,886 (GRCm39) I195F probably damaging Het
Camsap1 T C 2: 25,835,201 (GRCm39) N317S probably damaging Het
Ccdc127 T G 13: 74,500,994 (GRCm39) L4V probably damaging Het
Ccdc7a T C 8: 129,774,100 (GRCm39) E145G probably damaging Het
Cdh10 T A 15: 19,013,287 (GRCm39) V629D probably damaging Het
Cdh23 A C 10: 60,214,530 (GRCm39) L1497R probably damaging Het
Chsy3 A G 18: 59,542,875 (GRCm39) K671R probably benign Het
Clca4b T C 3: 144,621,367 (GRCm39) Y569C probably damaging Het
Cnga1 T C 5: 72,786,696 (GRCm39) probably benign Het
Cyp51 T A 5: 4,150,188 (GRCm39) E178D probably damaging Het
Defa30 T A 8: 21,625,471 (GRCm39) N78K probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnah14 G T 1: 181,450,568 (GRCm39) C727F probably benign Het
Egf A T 3: 129,548,607 (GRCm39) W3R unknown Het
Egfem1 G A 3: 29,136,364 (GRCm39) probably null Het
Epb41l1 G T 2: 156,368,812 (GRCm39) V682L possibly damaging Het
Etv1 A G 12: 38,834,369 (GRCm39) probably null Het
Faap100 A G 11: 120,268,200 (GRCm39) F191S possibly damaging Het
Fmo1 T A 1: 162,667,263 (GRCm39) D184V possibly damaging Het
Ghrl A G 6: 113,696,344 (GRCm39) L16P probably damaging Het
Gria4 T A 9: 4,420,278 (GRCm39) L861F probably damaging Het
Gsr T A 8: 34,185,090 (GRCm39) M428K probably damaging Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Kbtbd12 A G 6: 88,595,497 (GRCm39) M111T possibly damaging Het
Krtap21-1 G T 16: 89,200,623 (GRCm39) Y6* probably null Het
Lin9 A G 1: 180,494,935 (GRCm39) D219G probably damaging Het
Lrrc38 A G 4: 143,076,739 (GRCm39) M1V probably null Het
Macc1 T G 12: 119,410,773 (GRCm39) F514V probably benign Het
Madcam1 C T 10: 79,504,139 (GRCm39) R242C probably benign Het
Mfhas1 T C 8: 36,131,944 (GRCm39) S1037P probably benign Het
Micall2 C T 5: 139,694,699 (GRCm39) probably benign Het
Mtr C A 13: 12,205,095 (GRCm39) A1122S possibly damaging Het
Muc6 T A 7: 141,226,456 (GRCm39) probably benign Het
Myh15 T A 16: 48,929,662 (GRCm39) C529* probably null Het
Napsa T C 7: 44,234,509 (GRCm39) V247A probably damaging Het
Nr2c2 A G 6: 92,135,338 (GRCm39) T309A probably damaging Het
Or1e26 A T 11: 73,480,558 (GRCm39) I2K probably benign Het
Or1q1 T A 2: 36,887,173 (GRCm39) V117E probably benign Het
Or2n1b A T 17: 38,459,691 (GRCm39) M71L probably benign Het
Osgepl1 A T 1: 53,360,710 (GRCm39) I384F possibly damaging Het
Otud4 C T 8: 80,377,671 (GRCm39) L111F possibly damaging Het
Pds5b A G 5: 150,673,385 (GRCm39) Y481C probably damaging Het
Pdzrn4 T A 15: 92,668,303 (GRCm39) Y818* probably null Het
Pin1rt1 T C 2: 104,544,767 (GRCm39) S122G probably benign Het
Pkdcc A T 17: 83,531,687 (GRCm39) Y487F probably damaging Het
Plxna4 C T 6: 32,493,440 (GRCm39) C392Y probably damaging Het
Psd4 T G 2: 24,284,985 (GRCm39) M283R probably benign Het
Ralgds G T 2: 28,430,741 (GRCm39) G68W probably damaging Het
Rmdn2 T A 17: 79,928,808 (GRCm39) I20N probably damaging Het
Sestd1 A G 2: 77,022,910 (GRCm39) V486A probably benign Het
Skic8 T A 9: 54,626,539 (GRCm39) D275V probably damaging Het
Spmap2 G T 10: 79,422,796 (GRCm39) D35E probably benign Het
Tango6 A G 8: 107,533,748 (GRCm39) H958R possibly damaging Het
Taok3 C T 5: 117,411,771 (GRCm39) R857C probably damaging Het
Tasor A T 14: 27,194,392 (GRCm39) L1197F probably damaging Het
Usp19 C T 9: 108,374,334 (GRCm39) H763Y possibly damaging Het
Vmn1r185 A G 7: 26,310,651 (GRCm39) S285P probably damaging Het
Vmn1r45 T G 6: 89,910,538 (GRCm39) Y144S probably benign Het
Vwa3b G A 1: 37,212,959 (GRCm39) E152K probably benign Het
Xrcc5 G A 1: 72,433,875 (GRCm39) M731I probably benign Het
Zfp619 G A 7: 39,186,787 (GRCm39) S939N possibly damaging Het
Zfp874a C A 13: 67,590,418 (GRCm39) C422F probably damaging Het
Zfp948 A G 17: 21,808,719 (GRCm39) D637G possibly 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
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
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
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'- GCCAGCATGTGACAGATGAATG -3'
(R):5'- AGTCGATGGCTGCTATTCTGTC -3'

Sequencing Primer
(F):5'- TGCCATGTGCGGTGAGC -3'
(R):5'- GTCGATGGCTGCTATTCTGTCTAATC -3'
Posted On 2019-05-13