Incidental Mutation 'R7527:Rapgef6'
ID 583087
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 045599-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7527 (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 C at 54525787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 541 (S541P)
Ref Sequence ENSEMBL: ENSMUSP00000104523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094536] [ENSMUST00000101206] [ENSMUST00000102743] [ENSMUST00000108894] [ENSMUST00000108895] [ENSMUST00000207429] [ENSMUST00000218995]
AlphaFold Q5NCJ1
Predicted Effect probably benign
Transcript: ENSMUST00000094536
SMART Domains Protein: ENSMUSP00000092114
Gene: ENSMUSG00000037533

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
SMART Domains Protein: ENSMUSP00000098766
Gene: ENSMUSG00000037533

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
SMART Domains Protein: ENSMUSP00000099804
Gene: ENSMUSG00000037533

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
SMART Domains Protein: ENSMUSP00000104522
Gene: ENSMUSG00000037533

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 unknown
Transcript: ENSMUST00000108895
AA Change: S541P
SMART Domains Protein: ENSMUSP00000104523
Gene: ENSMUSG00000037533
AA Change: S541P

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
Predicted Effect probably benign
Transcript: ENSMUST00000218995
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,218,556 (GRCm39) probably null Het
Abcc10 A G 17: 46,623,830 (GRCm39) S810P possibly damaging Het
Adam22 T C 5: 8,132,239 (GRCm39) H138R possibly damaging Het
Adcyap1 T A 17: 93,510,257 (GRCm39) L95* probably null Het
Adgrl4 C A 3: 151,144,887 (GRCm39) T12N probably benign Het
Alpi T C 1: 87,026,677 (GRCm39) N438S probably benign Het
Ankrd44 T C 1: 54,687,483 (GRCm39) N979D probably benign Het
Ankrd60 A C 2: 173,419,966 (GRCm39) S57A probably benign Het
Arfgef3 G A 10: 18,522,377 (GRCm39) P550S probably benign Het
Btbd16 A T 7: 130,422,202 (GRCm39) D390V probably damaging Het
Cacna2d4 T C 6: 119,248,208 (GRCm39) V374A probably benign Het
Cdcp1 A T 9: 123,014,172 (GRCm39) F201I probably benign Het
Cdh15 A T 8: 123,588,865 (GRCm39) D313V probably damaging Het
Cfap157 A G 2: 32,669,890 (GRCm39) L231P possibly damaging Het
Chl1 T G 6: 103,688,162 (GRCm39) C1001G probably damaging Het
Cmtr2 A G 8: 110,948,770 (GRCm39) H360R probably damaging Het
Csmd1 C T 8: 16,261,732 (GRCm39) A922T probably damaging Het
Fancg C T 4: 43,010,116 (GRCm39) probably benign Het
Glt8d2 A T 10: 82,488,403 (GRCm39) S356T unknown Het
Gm19410 T A 8: 36,269,386 (GRCm39) C1074S probably damaging Het
Gm9195 C T 14: 72,711,310 (GRCm39) C376Y possibly damaging Het
Gnai3 G A 3: 108,025,693 (GRCm39) R129C Het
Golph3 T G 15: 12,343,404 (GRCm39) probably null Het
H2bc18 T A 3: 96,177,186 (GRCm39) V40D possibly damaging Het
Hk1 C A 10: 62,140,561 (GRCm39) V105F probably damaging Het
Hoxd8 A G 2: 74,536,001 (GRCm39) Y37C probably damaging Het
Inava T A 1: 136,142,122 (GRCm39) D659V possibly damaging Het
Jun G T 4: 94,939,234 (GRCm39) P92Q probably damaging Het
Klhl14 C T 18: 21,784,597 (GRCm39) V277I probably damaging Het
Lrrc51 C T 7: 101,569,843 (GRCm39) probably null Het
Man2c1 T A 9: 57,045,100 (GRCm39) Y429* probably null Het
Myo18a T A 11: 77,734,406 (GRCm39) C1476S probably benign Het
Neb G C 2: 52,066,635 (GRCm39) T6155R probably damaging Het
Niban3 C G 8: 72,059,342 (GRCm39) C568W probably damaging Het
Nuf2 T C 1: 169,326,422 (GRCm39) E443G possibly damaging Het
Or10j5 C T 1: 172,784,511 (GRCm39) H50Y probably benign Het
Or4c15 A G 2: 88,760,434 (GRCm39) V75A probably benign Het
Or5d37 A T 2: 87,923,954 (GRCm39) C109S probably damaging Het
Or7g32 A G 9: 19,408,685 (GRCm39) I214V probably damaging Het
Osmr A G 15: 6,856,603 (GRCm39) S515P probably damaging Het
Pik3r5 T C 11: 68,367,177 (GRCm39) L84P probably damaging Het
Plcl1 T C 1: 55,736,273 (GRCm39) I538T probably damaging Het
Plxnb1 G T 9: 108,929,929 (GRCm39) V262L probably damaging Het
Pprc1 T C 19: 46,057,804 (GRCm39) S1320P unknown Het
Pramel47 A G 5: 95,490,409 (GRCm39) D347G probably benign Het
Prap1 G A 7: 139,676,120 (GRCm39) probably null Het
Psg23 A T 7: 18,348,699 (GRCm39) V36D probably damaging Het
Ptgr1 A G 4: 58,982,887 (GRCm39) Y49H probably damaging Het
Ptprr A G 10: 116,087,104 (GRCm39) T528A probably benign Het
Rnf17 A T 14: 56,753,895 (GRCm39) D1534V probably damaging Het
Sdk1 T G 5: 141,778,731 (GRCm39) S236R possibly damaging Het
Sepsecs A G 5: 52,801,393 (GRCm39) M423T possibly damaging Het
Serpina1f T G 12: 103,658,167 (GRCm39) Y246S probably benign Het
Sftpb T A 6: 72,282,048 (GRCm39) V46E possibly damaging Het
Slc4a1ap G A 5: 31,691,475 (GRCm39) V424I probably benign Het
Slc5a4b G A 10: 75,946,742 (GRCm39) T10M probably benign Het
Slc6a16 T C 7: 44,922,063 (GRCm39) W664R probably damaging Het
Snx8 T C 5: 140,341,827 (GRCm39) E138G probably benign Het
Sox6 T C 7: 115,376,408 (GRCm39) E108G probably benign Het
Sptan1 A T 2: 29,870,209 (GRCm39) I120F probably damaging Het
Sptbn4 T C 7: 27,075,015 (GRCm39) E1452G possibly damaging Het
Stac2 T A 11: 97,930,452 (GRCm39) E372V probably damaging Het
Taco1 A T 11: 105,962,795 (GRCm39) I161F probably damaging Het
Taf1d C A 9: 15,220,133 (GRCm39) D127E possibly damaging Het
Tenm2 T A 11: 36,097,803 (GRCm39) N482Y probably damaging Het
Tenm3 A G 8: 48,729,635 (GRCm39) V1457A possibly damaging Het
Tmem200c A T 17: 69,148,671 (GRCm39) H418L probably benign Het
Tmem81 T C 1: 132,435,884 (GRCm39) V230A probably benign Het
Tnn C T 1: 159,946,074 (GRCm39) V915I possibly damaging Het
Trav8d-2 A T 14: 53,280,154 (GRCm39) Y48F possibly damaging Het
Trpm2 T C 10: 77,801,894 (GRCm39) N57S probably benign Het
Ttn G A 2: 76,598,383 (GRCm39) T19510M probably damaging Het
Ubl7 T C 9: 57,820,167 (GRCm39) L73P unknown Het
Uso1 A G 5: 92,347,734 (GRCm39) D845G possibly damaging Het
Utrn G T 10: 12,277,126 (GRCm39) P3397Q possibly damaging Het
Vmn2r60 AG A 7: 41,845,158 (GRCm39) 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
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
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'- TGACACGGATTGTACTCTTATGGG -3'
(R):5'- TTGCTCTGGGAACTACACTCC -3'

Sequencing Primer
(F):5'- GGTGATCCTGCTATGACT -3'
(R):5'- TGGCAGTCTGCTTTCAGC -3'
Posted On 2019-10-17