Incidental Mutation 'R7199:Rapgef6'
ID 560180
Institutional Source Beutler Lab
Gene Symbol Rapgef6
Ensembl Gene ENSMUSG00000037533
Gene Name Rap guanine nucleotide exchange factor (GEF) 6
Synonyms PDZ-GEF2, C030018K18Rik, Pdzgef2, RA-GEF-2
MMRRC Submission 045277-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7199 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 54413673-54590111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54437252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 65 (F65Y)
Ref Sequence ENSEMBL: ENSMUSP00000104523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101206] [ENSMUST00000102743] [ENSMUST00000108895] [ENSMUST00000207429]
AlphaFold Q5NCJ1
Predicted Effect probably benign
Transcript: ENSMUST00000101206
AA Change: F65Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000098766
Gene: ENSMUSG00000037533
AA Change: F65Y

DomainStartEndE-ValueType
internal_repeat_1 10 82 1.45e-5 PROSPERO
low complexity region 187 205 N/A INTRINSIC
low complexity region 231 239 N/A INTRINSIC
cNMP 280 398 4.8e-13 SMART
RasGEFN 412 525 4.35e-33 SMART
PDZ 540 612 8.86e-16 SMART
low complexity region 694 705 N/A INTRINSIC
RA 749 835 1.47e-20 SMART
RasGEF 856 1095 5.35e-87 SMART
low complexity region 1237 1250 N/A INTRINSIC
low complexity region 1270 1293 N/A INTRINSIC
low complexity region 1345 1364 N/A INTRINSIC
low complexity region 1368 1380 N/A INTRINSIC
low complexity region 1444 1452 N/A INTRINSIC
low complexity region 1555 1568 N/A INTRINSIC
low complexity region 1591 1604 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102743
AA Change: F65Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099804
Gene: ENSMUSG00000037533
AA Change: F65Y

DomainStartEndE-ValueType
internal_repeat_1 10 82 1.42e-5 PROSPERO
low complexity region 187 205 N/A INTRINSIC
low complexity region 231 239 N/A INTRINSIC
cNMP 280 398 4.8e-13 SMART
RasGEFN 412 525 4.35e-33 SMART
PDZ 540 612 8.86e-16 SMART
low complexity region 694 705 N/A INTRINSIC
RA 749 835 1.47e-20 SMART
RasGEF 856 1138 3.88e-84 SMART
low complexity region 1229 1242 N/A INTRINSIC
low complexity region 1262 1285 N/A INTRINSIC
low complexity region 1337 1356 N/A INTRINSIC
low complexity region 1360 1372 N/A INTRINSIC
low complexity region 1436 1444 N/A INTRINSIC
low complexity region 1547 1560 N/A INTRINSIC
low complexity region 1583 1596 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108895
AA Change: F65Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104523
Gene: ENSMUSG00000037533
AA Change: F65Y

DomainStartEndE-ValueType
internal_repeat_1 10 82 1.95e-5 PROSPERO
low complexity region 187 205 N/A INTRINSIC
low complexity region 231 239 N/A INTRINSIC
cNMP 280 398 4.8e-13 SMART
RasGEFN 412 526 1.03e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207429
AA Change: F65Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit an inlarged spleen, increased IgE and IgG levels and altered cytokine production. [provided by MGI curators]
Allele List at MGI

All alleles(16) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(13)

Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A G 16: 88,555,902 (GRCm39) T39A probably damaging Het
Abca3 G A 17: 24,596,681 (GRCm39) G378D probably damaging Het
Abtb2 T C 2: 103,397,565 (GRCm39) V165A possibly damaging Het
Ache A G 5: 137,288,504 (GRCm39) E70G probably damaging Het
Adamtsl4 T C 3: 95,588,119 (GRCm39) T623A probably benign Het
Ahdc1 G A 4: 132,791,935 (GRCm39) V1059I probably benign Het
Ajuba G A 14: 54,810,915 (GRCm39) Q357* probably null Het
Ano7 A T 1: 93,330,700 (GRCm39) D54V Het
Apob A T 12: 8,055,072 (GRCm39) D1357V probably damaging Het
Atad2b T A 12: 5,067,992 (GRCm39) Y997N probably damaging Het
Bhlhe22 C A 3: 18,110,006 (GRCm39) T352K probably damaging Het
Bsn T C 9: 107,992,533 (GRCm39) E1073G probably damaging Het
Bzw2 G A 12: 36,180,054 (GRCm39) R58* probably null Het
C7 G T 15: 5,023,725 (GRCm39) S694R probably benign Het
Cbr2 T A 11: 120,621,087 (GRCm39) H170L probably benign Het
Cdcp3 G A 7: 130,837,641 (GRCm39) W512* probably null Het
Cgas C A 9: 78,340,315 (GRCm39) K472N probably benign Het
Ckap2l T C 2: 129,126,975 (GRCm39) N401S probably benign Het
Cldn1 A G 16: 26,190,346 (GRCm39) F11L probably benign Het
Cmtr1 A G 17: 29,895,174 (GRCm39) T118A probably benign Het
Cog6 T C 3: 52,890,610 (GRCm39) E610G probably benign Het
Col3a1 G T 1: 45,371,301 (GRCm39) A451S probably null Het
Cr1l T A 1: 194,799,878 (GRCm39) R265S probably benign Het
Dapk1 T C 13: 60,902,024 (GRCm39) I951T probably benign Het
Dnah9 T C 11: 66,009,770 (GRCm39) N706D probably benign Het
Dpysl5 A T 5: 30,940,539 (GRCm39) T239S probably benign Het
Ect2l T A 10: 18,004,894 (GRCm39) Y913F probably benign Het
Elf5 C A 2: 103,269,641 (GRCm39) A74D possibly damaging Het
Erap1 T C 13: 74,814,258 (GRCm39) V399A probably benign Het
Ercc4 A G 16: 12,965,657 (GRCm39) D763G probably damaging Het
Fam222b T A 11: 78,045,683 (GRCm39) C415S possibly damaging Het
Fat4 A C 3: 39,031,511 (GRCm39) N2432T probably damaging Het
Fbn2 G T 18: 58,186,833 (GRCm39) C1689* probably null Het
Frrs1l T A 4: 56,972,282 (GRCm39) T140S probably damaging Het
Gm5141 A T 13: 62,924,877 (GRCm39) H10Q possibly damaging Het
Inafm1 A T 7: 16,007,079 (GRCm39) L46Q probably damaging Het
Irak2 T C 6: 113,650,045 (GRCm39) L260P probably damaging Het
Kat2b T C 17: 53,977,706 (GRCm39) L751P probably damaging Het
Kcnh1 T A 1: 192,019,913 (GRCm39) I413N probably benign Het
Kirrel1 T C 3: 86,990,695 (GRCm39) D709G probably benign Het
Lama4 T C 10: 38,956,536 (GRCm39) V1153A possibly damaging Het
Lipg A T 18: 75,088,655 (GRCm39) F98L probably benign Het
Lman1 T C 18: 66,127,936 (GRCm39) E236G probably damaging Het
Lrp1 T A 10: 127,409,325 (GRCm39) D1598V probably damaging Het
Lrrc71 T A 3: 87,650,384 (GRCm39) N230Y probably damaging Het
Maneal T C 4: 124,750,983 (GRCm39) S258G possibly damaging Het
Marchf10 T A 11: 105,281,532 (GRCm39) E251V probably damaging Het
Mpdz A G 4: 81,215,570 (GRCm39) I1484T probably damaging Het
Mtcl1 T A 17: 66,647,534 (GRCm39) N1882I probably benign Het
Neb G A 2: 52,110,212 (GRCm39) A212V probably benign Het
Obscn G A 11: 58,903,672 (GRCm39) S7434L probably benign Het
Or14j8 A C 17: 38,263,048 (GRCm39) I289S probably damaging Het
Or1ad8 T A 11: 50,898,223 (GRCm39) C141* probably null Het
Or1j12 A T 2: 36,342,872 (GRCm39) I92F probably damaging Het
Or4k47 T C 2: 111,451,538 (GRCm39) M294V probably benign Het
Or8g2b A G 9: 39,750,753 (GRCm39) M8V probably benign Het
Orc6 T C 8: 86,029,590 (GRCm39) probably null Het
Otogl T G 10: 107,710,394 (GRCm39) E565A possibly damaging Het
Papss1 A G 3: 131,290,899 (GRCm39) Q214R probably benign Het
Pck2 G A 14: 55,786,169 (GRCm39) V653M probably benign Het
Plxna4 G A 6: 32,192,113 (GRCm39) Q826* probably null Het
Pms1 T A 1: 53,295,889 (GRCm39) T161S probably benign Het
Prkar2a C A 9: 108,617,669 (GRCm39) N242K probably damaging Het
Prss1 T A 6: 41,439,690 (GRCm39) I141N probably damaging Het
Puf60 A G 15: 75,943,717 (GRCm39) V235A probably damaging Het
Rasgef1b T C 5: 99,447,898 (GRCm39) E104G unknown Het
Rcn3 T C 7: 44,734,333 (GRCm39) Y225C probably damaging Het
Rhot1 G C 11: 80,137,560 (GRCm39) W354S probably damaging Het
Rp1 T C 1: 4,417,513 (GRCm39) S1200G possibly damaging Het
Scaper T A 9: 55,745,460 (GRCm39) K603* probably null Het
Selenbp1 G A 3: 94,851,745 (GRCm39) V429I possibly damaging Het
Setd5 T G 6: 113,098,099 (GRCm39) S713A probably benign Het
Shank1 T C 7: 44,002,564 (GRCm39) Y1428H possibly damaging Het
Slc11a1 G T 1: 74,422,830 (GRCm39) W361L possibly damaging Het
Spta1 A T 1: 174,050,837 (GRCm39) D1772V possibly damaging Het
St8sia6 T C 2: 13,661,721 (GRCm39) H370R probably damaging Het
Stkld1 A T 2: 26,842,726 (GRCm39) D566V probably damaging Het
Tango6 T C 8: 107,415,791 (GRCm39) V204A probably benign Het
Tdrd5 G A 1: 156,129,293 (GRCm39) A139V probably damaging Het
Tenm2 A T 11: 36,062,263 (GRCm39) V534E probably damaging Het
Tfip11 A T 5: 112,479,044 (GRCm39) Q204L probably benign Het
Tlr4 A T 4: 66,759,430 (GRCm39) Q741L probably damaging Het
Tmem18 A G 12: 30,638,654 (GRCm39) M111V probably benign Het
Togaram1 A G 12: 65,042,292 (GRCm39) N1167S probably benign Het
Trappc3 C T 4: 126,168,945 (GRCm39) A145V possibly damaging Het
Trbj2-3 T C 6: 41,520,176 (GRCm39) F7S probably damaging Het
Vinac1 A G 2: 128,880,238 (GRCm39) S563P Het
Vmn1r212 T A 13: 23,067,731 (GRCm39) M201L probably benign Het
Xaf1 C A 11: 72,194,201 (GRCm39) C27* probably null Het
Zeb1 T C 18: 5,767,703 (GRCm39) V738A probably benign Het
Zfp524 A T 7: 5,020,883 (GRCm39) H137L probably damaging Het
Zfyve19 A T 2: 119,047,118 (GRCm39) H367L probably damaging Het
Zim1 G A 7: 6,680,872 (GRCm39) Q264* probably null Het
Other mutations in Rapgef6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00436:Rapgef6 APN 11 54,570,091 (GRCm39) missense probably benign 0.00
IGL00507:Rapgef6 APN 11 54,554,935 (GRCm39) nonsense probably null
IGL00809:Rapgef6 APN 11 54,540,126 (GRCm39) missense probably damaging 1.00
IGL00843:Rapgef6 APN 11 54,582,099 (GRCm39) missense probably benign 0.03
IGL00899:Rapgef6 APN 11 54,510,844 (GRCm39) nonsense probably null
IGL01372:Rapgef6 APN 11 54,559,437 (GRCm39) splice site probably benign
IGL01604:Rapgef6 APN 11 54,585,389 (GRCm39) missense probably damaging 0.99
IGL01935:Rapgef6 APN 11 54,501,668 (GRCm39) missense possibly damaging 0.78
IGL01991:Rapgef6 APN 11 54,443,695 (GRCm39) missense probably benign 0.37
IGL02243:Rapgef6 APN 11 54,567,226 (GRCm39) missense probably damaging 1.00
IGL02407:Rapgef6 APN 11 54,567,181 (GRCm39) missense possibly damaging 0.91
IGL02676:Rapgef6 APN 11 54,540,172 (GRCm39) unclassified probably benign
IGL02934:Rapgef6 APN 11 54,516,690 (GRCm39) missense probably damaging 1.00
IGL03076:Rapgef6 APN 11 54,516,793 (GRCm39) missense probably damaging 1.00
IGL03110:Rapgef6 APN 11 54,586,915 (GRCm39) missense probably damaging 0.97
IGL03256:Rapgef6 APN 11 54,548,255 (GRCm39) missense probably damaging 1.00
shocker UTSW 11 54,510,842 (GRCm39) missense probably damaging 1.00
D4216:Rapgef6 UTSW 11 54,559,572 (GRCm39) splice site probably benign
PIT4305001:Rapgef6 UTSW 11 54,570,203 (GRCm39) missense probably damaging 1.00
PIT4366001:Rapgef6 UTSW 11 54,582,446 (GRCm39) missense probably damaging 0.98
R0047:Rapgef6 UTSW 11 54,437,204 (GRCm39) missense possibly damaging 0.65
R0047:Rapgef6 UTSW 11 54,437,204 (GRCm39) missense possibly damaging 0.65
R0125:Rapgef6 UTSW 11 54,516,701 (GRCm39) nonsense probably null
R0189:Rapgef6 UTSW 11 54,582,075 (GRCm39) missense probably benign
R0201:Rapgef6 UTSW 11 54,510,767 (GRCm39) missense probably damaging 1.00
R0505:Rapgef6 UTSW 11 54,516,789 (GRCm39) missense probably benign 0.00
R0524:Rapgef6 UTSW 11 54,581,110 (GRCm39) missense probably benign 0.32
R0853:Rapgef6 UTSW 11 54,559,503 (GRCm39) missense probably damaging 1.00
R1203:Rapgef6 UTSW 11 54,582,525 (GRCm39) missense probably benign 0.09
R1440:Rapgef6 UTSW 11 54,517,534 (GRCm39) missense probably damaging 1.00
R1453:Rapgef6 UTSW 11 54,530,553 (GRCm39) splice site probably null
R1530:Rapgef6 UTSW 11 54,552,009 (GRCm39) missense probably damaging 1.00
R1593:Rapgef6 UTSW 11 54,437,223 (GRCm39) frame shift probably null
R1620:Rapgef6 UTSW 11 54,517,420 (GRCm39) missense possibly damaging 0.88
R1628:Rapgef6 UTSW 11 54,437,223 (GRCm39) frame shift probably null
R1629:Rapgef6 UTSW 11 54,437,223 (GRCm39) frame shift probably null
R1630:Rapgef6 UTSW 11 54,437,223 (GRCm39) frame shift probably null
R1634:Rapgef6 UTSW 11 54,437,223 (GRCm39) frame shift probably null
R1640:Rapgef6 UTSW 11 54,548,231 (GRCm39) missense probably damaging 1.00
R1686:Rapgef6 UTSW 11 54,582,458 (GRCm39) missense possibly damaging 0.81
R1722:Rapgef6 UTSW 11 54,437,223 (GRCm39) frame shift probably null
R1743:Rapgef6 UTSW 11 54,567,110 (GRCm39) missense probably damaging 1.00
R1816:Rapgef6 UTSW 11 54,585,314 (GRCm39) missense probably benign
R1851:Rapgef6 UTSW 11 54,533,637 (GRCm39) missense probably benign 0.01
R1852:Rapgef6 UTSW 11 54,533,637 (GRCm39) missense probably benign 0.01
R1868:Rapgef6 UTSW 11 54,437,223 (GRCm39) frame shift probably null
R1888:Rapgef6 UTSW 11 54,551,654 (GRCm39) missense probably damaging 1.00
R1888:Rapgef6 UTSW 11 54,551,654 (GRCm39) missense probably damaging 1.00
R1942:Rapgef6 UTSW 11 54,548,089 (GRCm39) missense possibly damaging 0.95
R1943:Rapgef6 UTSW 11 54,548,089 (GRCm39) missense possibly damaging 0.95
R2031:Rapgef6 UTSW 11 54,443,684 (GRCm39) missense probably benign 0.30
R2087:Rapgef6 UTSW 11 54,522,075 (GRCm39) missense probably damaging 1.00
R2106:Rapgef6 UTSW 11 54,559,512 (GRCm39) missense probably benign 0.17
R2362:Rapgef6 UTSW 11 54,585,098 (GRCm39) missense probably damaging 1.00
R2484:Rapgef6 UTSW 11 54,533,582 (GRCm39) missense possibly damaging 0.48
R2566:Rapgef6 UTSW 11 54,578,537 (GRCm39) missense possibly damaging 0.66
R2872:Rapgef6 UTSW 11 54,552,001 (GRCm39) missense probably damaging 1.00
R2872:Rapgef6 UTSW 11 54,552,001 (GRCm39) missense probably damaging 1.00
R3744:Rapgef6 UTSW 11 54,516,760 (GRCm39) missense probably benign 0.40
R3848:Rapgef6 UTSW 11 54,582,134 (GRCm39) missense probably damaging 0.97
R4823:Rapgef6 UTSW 11 54,585,326 (GRCm39) missense probably benign 0.08
R4859:Rapgef6 UTSW 11 54,526,989 (GRCm39) missense probably benign
R4906:Rapgef6 UTSW 11 54,443,662 (GRCm39) missense probably damaging 1.00
R4911:Rapgef6 UTSW 11 54,513,143 (GRCm39) missense probably damaging 0.97
R4937:Rapgef6 UTSW 11 54,548,143 (GRCm39) missense probably damaging 1.00
R5033:Rapgef6 UTSW 11 54,582,207 (GRCm39) missense possibly damaging 0.92
R5249:Rapgef6 UTSW 11 54,413,943 (GRCm39) missense probably benign 0.19
R5304:Rapgef6 UTSW 11 54,548,200 (GRCm39) missense probably benign 0.01
R5656:Rapgef6 UTSW 11 54,526,962 (GRCm39) missense possibly damaging 0.95
R5701:Rapgef6 UTSW 11 54,567,220 (GRCm39) missense possibly damaging 0.76
R5758:Rapgef6 UTSW 11 54,559,470 (GRCm39) missense probably damaging 1.00
R5973:Rapgef6 UTSW 11 54,530,609 (GRCm39) missense probably damaging 1.00
R6177:Rapgef6 UTSW 11 54,510,842 (GRCm39) missense probably damaging 1.00
R6268:Rapgef6 UTSW 11 54,540,073 (GRCm39) missense probably damaging 1.00
R6287:Rapgef6 UTSW 11 54,517,164 (GRCm39) splice site probably null
R6293:Rapgef6 UTSW 11 54,525,607 (GRCm39) missense probably damaging 1.00
R6471:Rapgef6 UTSW 11 54,582,563 (GRCm39) missense probably damaging 0.99
R6863:Rapgef6 UTSW 11 54,437,206 (GRCm39) missense probably benign 0.00
R6950:Rapgef6 UTSW 11 54,567,206 (GRCm39) missense probably benign 0.09
R7144:Rapgef6 UTSW 11 54,548,191 (GRCm39) missense possibly damaging 0.78
R7171:Rapgef6 UTSW 11 54,567,189 (GRCm39) missense possibly damaging 0.94
R7291:Rapgef6 UTSW 11 54,582,065 (GRCm39) missense probably benign 0.05
R7436:Rapgef6 UTSW 11 54,501,747 (GRCm39) critical splice donor site probably null
R7498:Rapgef6 UTSW 11 54,510,830 (GRCm39) missense probably damaging 1.00
R7506:Rapgef6 UTSW 11 54,526,997 (GRCm39) missense probably benign 0.00
R7527:Rapgef6 UTSW 11 54,525,787 (GRCm39) missense unknown
R7646:Rapgef6 UTSW 11 54,516,780 (GRCm39) missense probably benign 0.00
R7655:Rapgef6 UTSW 11 54,585,279 (GRCm39) missense probably benign 0.10
R7656:Rapgef6 UTSW 11 54,585,279 (GRCm39) missense probably benign 0.10
R7687:Rapgef6 UTSW 11 54,551,901 (GRCm39) missense possibly damaging 0.93
R7768:Rapgef6 UTSW 11 54,517,414 (GRCm39) missense probably damaging 1.00
R7788:Rapgef6 UTSW 11 54,585,225 (GRCm39) missense probably damaging 1.00
R7890:Rapgef6 UTSW 11 54,517,549 (GRCm39) missense probably damaging 1.00
R8113:Rapgef6 UTSW 11 54,516,784 (GRCm39) missense probably benign 0.03
R8337:Rapgef6 UTSW 11 54,522,127 (GRCm39) nonsense probably null
R8393:Rapgef6 UTSW 11 54,578,487 (GRCm39) missense probably benign
R8465:Rapgef6 UTSW 11 54,582,308 (GRCm39) missense probably benign 0.00
R8492:Rapgef6 UTSW 11 54,581,063 (GRCm39) missense probably damaging 0.99
R8791:Rapgef6 UTSW 11 54,459,295 (GRCm39) missense probably benign 0.15
R8866:Rapgef6 UTSW 11 54,443,700 (GRCm39) critical splice donor site probably null
R8917:Rapgef6 UTSW 11 54,582,392 (GRCm39) nonsense probably null
R8921:Rapgef6 UTSW 11 54,570,065 (GRCm39) missense probably benign 0.09
R9031:Rapgef6 UTSW 11 54,578,667 (GRCm39) missense probably benign 0.00
R9093:Rapgef6 UTSW 11 54,487,912 (GRCm39) nonsense probably null
R9354:Rapgef6 UTSW 11 54,510,749 (GRCm39) missense possibly damaging 0.66
R9514:Rapgef6 UTSW 11 54,443,684 (GRCm39) missense probably benign 0.14
R9516:Rapgef6 UTSW 11 54,582,169 (GRCm39) missense probably damaging 1.00
R9739:Rapgef6 UTSW 11 54,513,189 (GRCm39) missense probably benign 0.03
R9789:Rapgef6 UTSW 11 54,540,097 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGACTGCCTCAGCCTCAATC -3'
(R):5'- AGCCAGTGTCTTTAGCAACAG -3'

Sequencing Primer
(F):5'- GCATATGCCTCAGTCACAGG -3'
(R):5'- GCCAGTGTCTTTAGCAACAGTAGTC -3'
Posted On 2019-06-26