Incidental Mutation 'R5304:Rapgef6'
ID 404448
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 042887-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5304 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 54413673-54590111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54548200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 505 (S505P)
Ref Sequence ENSEMBL: ENSMUSP00000104522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094536] [ENSMUST00000101206] [ENSMUST00000102743] [ENSMUST00000108894] [ENSMUST00000207429]
AlphaFold Q5NCJ1
Predicted Effect probably benign
Transcript: ENSMUST00000094536
AA Change: S505P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000092114
Gene: ENSMUSG00000037533
AA Change: S505P

DomainStartEndE-ValueType
cNMP 1 113 6.64e-7 SMART
RasGEFN 127 240 4.35e-33 SMART
PDZ 255 327 8.86e-16 SMART
low complexity region 409 420 N/A INTRINSIC
RA 464 550 1.47e-20 SMART
RasGEF 571 853 3.88e-84 SMART
low complexity region 944 957 N/A INTRINSIC
low complexity region 972 989 N/A INTRINSIC
low complexity region 1016 1061 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101206
AA Change: S790P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000098766
Gene: ENSMUSG00000037533
AA Change: S790P

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: S790P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099804
Gene: ENSMUSG00000037533
AA Change: S790P

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: ENSMUST00000108894
AA Change: S505P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000104522
Gene: ENSMUSG00000037533
AA Change: S505P

DomainStartEndE-ValueType
cNMP 1 113 6.64e-7 SMART
RasGEFN 127 240 4.35e-33 SMART
PDZ 255 327 8.86e-16 SMART
low complexity region 409 420 N/A INTRINSIC
RA 464 550 1.47e-20 SMART
RasGEF 571 810 5.35e-87 SMART
low complexity region 952 965 N/A INTRINSIC
low complexity region 980 997 N/A INTRINSIC
low complexity region 1024 1069 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175600
Predicted Effect probably benign
Transcript: ENSMUST00000207429
AA Change: S795P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 99% (87/88)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 C T 11: 7,014,198 (GRCm39) A200V probably benign Het
Adgrv1 T C 13: 81,726,372 (GRCm39) D551G possibly damaging Het
Aldh3a2 A G 11: 61,144,538 (GRCm39) V340A probably damaging Het
Amy1 C A 3: 113,352,013 (GRCm39) C393F probably damaging Het
Ankrd16 T C 2: 11,794,545 (GRCm39) V310A probably benign Het
Arhgef15 T C 11: 68,838,063 (GRCm39) S686G probably null Het
Arid4b T A 13: 14,361,514 (GRCm39) N659K probably benign Het
Asz1 C T 6: 18,076,619 (GRCm39) R191Q probably benign Het
Atp2a3 A G 11: 72,879,383 (GRCm39) I947V probably damaging Het
AW011738 G A 4: 156,287,969 (GRCm39) probably benign Het
Bfsp1 G T 2: 143,669,211 (GRCm39) T456K probably benign Het
Cdc25c T C 18: 34,883,864 (GRCm39) T40A possibly damaging Het
Cdh20 G A 1: 110,036,569 (GRCm39) C583Y probably damaging Het
Ceacam23 A C 7: 17,636,617 (GRCm39) E231D probably benign Het
Cfap54 A T 10: 92,656,968 (GRCm39) L3028Q probably damaging Het
Chd1 A G 17: 15,975,213 (GRCm39) S1088G probably benign Het
Chd1 A T 17: 15,990,530 (GRCm39) H1694L possibly damaging Het
Cstf3 G T 2: 104,493,735 (GRCm39) E580* probably null Het
Dip2a A T 10: 76,130,357 (GRCm39) M622K possibly damaging Het
Dlgap1 A T 17: 71,122,202 (GRCm39) H877L probably damaging Het
Egfr G T 11: 16,834,260 (GRCm39) M122I probably benign Het
Etfbkmt T A 6: 149,048,704 (GRCm39) D114E probably damaging Het
Eva1c T C 16: 90,666,551 (GRCm39) L158P probably damaging Het
Exo1 G A 1: 175,720,542 (GRCm39) V287M probably damaging Het
Fam171a1 T C 2: 3,226,654 (GRCm39) Y471H probably damaging Het
Fermt1 T A 2: 132,783,986 (GRCm39) T8S probably benign Het
Fgfr2 G T 7: 129,769,504 (GRCm39) P630T probably damaging Het
Fmo5 G A 3: 97,558,938 (GRCm39) G466E probably damaging Het
Hcn4 A G 9: 58,751,215 (GRCm39) I280M probably benign Het
Ifi208 A C 1: 173,511,174 (GRCm39) K443T probably benign Het
Irs3 A G 5: 137,643,003 (GRCm39) F145S probably benign Het
Kirrel1 T A 3: 86,996,902 (GRCm39) H300L probably benign Het
Krit1 A G 5: 3,869,326 (GRCm39) Q340R probably damaging Het
Lipo5 T C 19: 33,445,149 (GRCm39) D140G unknown Het
Lrrtm4 A T 6: 79,999,683 (GRCm39) Q365L probably benign Het
Lrwd1 G T 5: 136,160,004 (GRCm39) T353K possibly damaging Het
Lsm14a A T 7: 34,053,154 (GRCm39) S240R possibly damaging Het
Map3k5 A G 10: 19,983,984 (GRCm39) I870V probably benign Het
Matcap2 A T 9: 22,335,528 (GRCm39) T49S probably benign Het
Mmp17 A T 5: 129,671,678 (GRCm39) E76V probably null Het
Mphosph10 A G 7: 64,038,732 (GRCm39) F272L probably damaging Het
Mtcl2 G A 2: 156,865,737 (GRCm39) Q1127* probably null Het
Myh10 A G 11: 68,655,071 (GRCm39) K380R probably damaging Het
Myo3b C T 2: 70,257,232 (GRCm39) P1282L probably damaging Het
Nemp2 T C 1: 52,682,238 (GRCm39) probably benign Het
Ola1 T C 2: 73,029,778 (GRCm39) I114V probably damaging Het
Or4c3d T A 2: 89,882,257 (GRCm39) H137L probably benign Het
Or8k28 T A 2: 86,285,779 (GRCm39) T279S probably damaging Het
Pabpc4 T G 4: 123,184,100 (GRCm39) D204E probably benign Het
Pigr A T 1: 130,777,230 (GRCm39) M679L probably benign Het
Pik3c2b A T 1: 132,998,146 (GRCm39) M341L possibly damaging Het
Plin4 T A 17: 56,413,132 (GRCm39) T498S probably benign Het
Ppp2r5e A G 12: 75,562,459 (GRCm39) S15P possibly damaging Het
Prdm13 T C 4: 21,678,984 (GRCm39) Y502C probably damaging Het
Ptprk T C 10: 28,468,050 (GRCm39) probably null Het
Rgmb G T 17: 16,040,990 (GRCm39) S199* probably null Het
Rgsl1 T C 1: 153,703,238 (GRCm39) T173A probably damaging Het
Rhobtb1 G T 10: 69,105,742 (GRCm39) K102N probably damaging Het
Ripor2 A T 13: 24,858,649 (GRCm39) D147V probably damaging Het
Rsad2 A T 12: 26,500,681 (GRCm39) V202E probably damaging Het
Slc1a6 A G 10: 78,629,141 (GRCm39) N186S probably damaging Het
Sorbs3 G A 14: 70,422,345 (GRCm39) R622* probably null Het
Spag9 C A 11: 93,959,838 (GRCm39) D342E probably damaging Het
Srgap3 T C 6: 112,743,900 (GRCm39) Y446C probably damaging Het
Thsd7b C T 1: 129,605,980 (GRCm39) R574* probably null Het
Tmem74 A T 15: 43,730,217 (GRCm39) Y275* probably null Het
Topors A T 4: 40,262,541 (GRCm39) S248T possibly damaging Het
Trpm1 A T 7: 63,858,694 (GRCm39) Y239F probably benign Het
Ttn T A 2: 76,548,527 (GRCm39) Y30179F possibly damaging Het
Ugt2b34 A T 5: 87,040,724 (GRCm39) F399L probably damaging Het
Ush2a A T 1: 188,088,995 (GRCm39) I317F probably damaging Het
Usp1 T C 4: 98,822,855 (GRCm39) V723A probably benign Het
Usp34 T G 11: 23,293,616 (GRCm39) L237V probably damaging Het
Vgf A T 5: 137,061,140 (GRCm39) D434V probably damaging Het
Vmn1r179 A G 7: 23,628,100 (GRCm39) N97S probably benign Het
Vps13a A G 19: 16,687,751 (GRCm39) L899P possibly damaging Het
Vps33b A T 7: 79,924,001 (GRCm39) I41F probably damaging Het
Zap70 A T 1: 36,817,299 (GRCm39) H210L probably damaging Het
Zc3h8 T C 2: 128,770,835 (GRCm39) D300G probably benign Het
Zfp958 C A 8: 4,676,196 (GRCm39) H55N possibly damaging 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
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
R7199:Rapgef6 UTSW 11 54,437,252 (GRCm39) missense probably benign 0.00
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'- TGTAGAGGGGTCCTTGTACTCC -3'
(R):5'- TCCTAAAACACCCATTTTAACAGGG -3'

Sequencing Primer
(F):5'- CTTGTACTCCAAGTTGCTTTTGG -3'
(R):5'- TTTTAACAGGGAATCCACAAACAG -3'
Posted On 2016-07-22