Incidental Mutation 'IGL01935:Rapgef4'
ID 180619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rapgef4
Ensembl Gene ENSMUSG00000049044
Gene Name Rap guanine nucleotide exchange factor (GEF) 4
Synonyms 5730402K07Rik, 6330581N18Rik, Epac2, cAMP-GEFII, 1300003D15Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.648) question?
Stock # IGL01935
Quality Score
Status
Chromosome 2
Chromosomal Location 71811584-72087818 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 72064467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 623 (T623K)
Ref Sequence ENSEMBL: ENSMUSP00000028525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028525] [ENSMUST00000090826] [ENSMUST00000102698]
AlphaFold Q9EQZ6
Predicted Effect probably benign
Transcript: ENSMUST00000028525
AA Change: T623K

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028525
Gene: ENSMUSG00000049044
AA Change: T623K

DomainStartEndE-ValueType
DEP 72 147 3.43e-27 SMART
low complexity region 158 167 N/A INTRINSIC
cNMP 212 331 4.02e-15 SMART
RasGEFN 351 486 3.61e-7 SMART
Blast:RasGEF 534 607 1e-33 BLAST
RasGEF 624 866 8.09e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090826
AA Change: T767K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000088336
Gene: ENSMUSG00000049044
AA Change: T767K

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
cNMP 43 162 4.62e-15 SMART
DEP 216 291 3.43e-27 SMART
low complexity region 302 311 N/A INTRINSIC
cNMP 356 475 4.02e-15 SMART
RasGEFN 495 630 3.61e-7 SMART
Blast:RasGEF 678 751 2e-33 BLAST
RasGEF 768 1010 8.09e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102698
AA Change: T749K

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044
AA Change: T749K

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
cNMP 43 162 4.62e-15 SMART
DEP 198 273 3.43e-27 SMART
low complexity region 284 293 N/A INTRINSIC
cNMP 338 457 4.02e-15 SMART
RasGEFN 477 612 3.61e-7 SMART
Blast:RasGEF 660 733 2e-33 BLAST
RasGEF 750 992 8.09e-105 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153887
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit decreased insulin granule fusion in pancreatic islet cells during the first phase of cAMP-dependent insulin granule exocytosis. Mice homozygous for a knock-out allele exhibit impaired isoproterenol-induced SR calcium leak and arrhythmia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 C T 6: 140,583,383 (GRCm39) probably benign Het
Akr1c12 A T 13: 4,322,244 (GRCm39) V266E probably damaging Het
Arhgef1 A G 7: 24,621,307 (GRCm39) T186A probably damaging Het
Atp8b5 A G 4: 43,366,638 (GRCm39) T801A probably benign Het
Card11 T A 5: 140,869,301 (GRCm39) I832F possibly damaging Het
Catsperg1 T C 7: 28,895,296 (GRCm39) probably null Het
Ccdc180 A G 4: 45,906,889 (GRCm39) T455A possibly damaging Het
Cfhr1 T A 1: 139,478,740 (GRCm39) Y210F probably benign Het
Chrna5 T C 9: 54,912,127 (GRCm39) V309A probably benign Het
Clstn2 A G 9: 97,345,521 (GRCm39) V609A probably damaging Het
Dnah6 T C 6: 73,037,126 (GRCm39) D3372G probably benign Het
Dtymk T C 1: 93,722,465 (GRCm39) K113E probably benign Het
Eef2k T C 7: 120,485,054 (GRCm39) F307S probably damaging Het
Flnc T A 6: 29,454,279 (GRCm39) V1864E probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Herc2 A G 7: 55,803,541 (GRCm39) Y2192C probably benign Het
Hkdc1 A T 10: 62,236,165 (GRCm39) V459E probably damaging Het
Iqsec3 T C 6: 121,360,951 (GRCm39) D969G probably damaging Het
Irf3 A G 7: 44,650,194 (GRCm39) T237A probably benign Het
Jade2 G A 11: 51,719,211 (GRCm39) T245I possibly damaging Het
Kctd8 A G 5: 69,497,707 (GRCm39) I313T possibly damaging Het
Kdm5a T A 6: 120,385,284 (GRCm39) S835R probably benign Het
Lama2 A C 10: 27,298,600 (GRCm39) H165Q probably damaging Het
Lrp1b T A 2: 41,158,367 (GRCm39) N1617Y probably damaging Het
Mcc C T 18: 44,652,583 (GRCm39) probably null Het
Mfsd14b T A 13: 65,215,739 (GRCm39) M405L probably benign Het
Myom3 T A 4: 135,515,692 (GRCm39) F794I probably damaging Het
Napsa G T 7: 44,236,046 (GRCm39) A362S probably benign Het
Ncf4 A T 15: 78,140,186 (GRCm39) D195V probably damaging Het
Or11g1 T C 14: 50,651,012 (GRCm39) F4L probably benign Het
Pank4 T G 4: 155,063,987 (GRCm39) D659E probably damaging Het
Pcnx1 T A 12: 81,964,590 (GRCm39) D252E probably benign Het
Pglyrp2 G A 17: 32,637,551 (GRCm39) A159V probably benign Het
Phaf1 T C 8: 105,966,633 (GRCm39) F127L probably damaging Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Ppfia4 A G 1: 134,245,674 (GRCm39) S627P probably benign Het
Ppp1r15b T C 1: 133,059,761 (GRCm39) F93L probably benign Het
Pramel13 C T 4: 144,119,172 (GRCm39) probably benign Het
Qrfpr A T 3: 36,235,200 (GRCm39) probably null Het
Rapgef6 A G 11: 54,501,668 (GRCm39) T184A possibly damaging Het
Ssrp1 T C 2: 84,877,056 (GRCm39) *709Q probably null Het
St7 T G 6: 17,930,822 (GRCm39) I442S probably damaging Het
Syne2 T A 12: 75,972,087 (GRCm39) H992Q probably damaging Het
Syt14 T C 1: 192,615,679 (GRCm39) R436G probably damaging Het
Tbc1d5 A G 17: 51,270,793 (GRCm39) probably benign Het
Thsd7a T A 6: 12,317,418 (GRCm39) N1630I probably damaging Het
Tinagl1 T C 4: 130,061,794 (GRCm39) K180R probably damaging Het
Tmed7 T C 18: 46,730,190 (GRCm39) T54A probably benign Het
Tmprss2 A T 16: 97,379,795 (GRCm39) Y48* probably null Het
Tns2 C T 15: 102,020,069 (GRCm39) probably null Het
Unc13d T C 11: 115,960,577 (GRCm39) M496V probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zbtb39 A G 10: 127,578,235 (GRCm39) T270A probably benign Het
Zfr T C 15: 12,180,798 (GRCm39) S976P probably benign Het
Zscan29 A G 2: 121,000,538 (GRCm39) F23S probably damaging Het
Other mutations in Rapgef4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Rapgef4 APN 2 72,086,656 (GRCm39) missense possibly damaging 0.75
IGL00858:Rapgef4 APN 2 72,029,241 (GRCm39) missense probably damaging 1.00
IGL01408:Rapgef4 APN 2 72,005,185 (GRCm39) nonsense probably null
IGL01673:Rapgef4 APN 2 72,071,781 (GRCm39) missense probably damaging 0.99
IGL01678:Rapgef4 APN 2 72,072,569 (GRCm39) splice site probably benign
IGL01725:Rapgef4 APN 2 72,005,218 (GRCm39) missense probably benign 0.24
IGL01871:Rapgef4 APN 2 72,028,704 (GRCm39) missense possibly damaging 0.69
IGL02001:Rapgef4 APN 2 72,055,396 (GRCm39) splice site probably benign
IGL02041:Rapgef4 APN 2 72,029,140 (GRCm39) missense probably damaging 1.00
IGL02134:Rapgef4 APN 2 72,010,405 (GRCm39) missense probably damaging 0.97
IGL02410:Rapgef4 APN 2 72,056,938 (GRCm39) missense possibly damaging 0.51
IGL02807:Rapgef4 APN 2 72,035,993 (GRCm39) splice site probably benign
IGL03066:Rapgef4 APN 2 71,971,523 (GRCm39) splice site probably benign
IGL03282:Rapgef4 APN 2 72,036,096 (GRCm39) splice site probably benign
IGL03291:Rapgef4 APN 2 72,026,047 (GRCm39) missense probably damaging 1.00
P0033:Rapgef4 UTSW 2 71,967,675 (GRCm39) intron probably benign
R0045:Rapgef4 UTSW 2 72,029,122 (GRCm39) missense possibly damaging 0.80
R0045:Rapgef4 UTSW 2 72,029,122 (GRCm39) missense possibly damaging 0.80
R0309:Rapgef4 UTSW 2 72,056,374 (GRCm39) missense probably benign 0.02
R0398:Rapgef4 UTSW 2 71,861,385 (GRCm39) missense probably damaging 0.99
R0747:Rapgef4 UTSW 2 72,053,417 (GRCm39) missense possibly damaging 0.66
R1216:Rapgef4 UTSW 2 72,038,492 (GRCm39) missense possibly damaging 0.51
R1264:Rapgef4 UTSW 2 71,861,449 (GRCm39) missense possibly damaging 0.48
R1302:Rapgef4 UTSW 2 71,875,504 (GRCm39) missense probably benign 0.31
R1460:Rapgef4 UTSW 2 71,861,520 (GRCm39) critical splice donor site probably null
R1483:Rapgef4 UTSW 2 71,885,370 (GRCm39) critical splice donor site probably null
R1682:Rapgef4 UTSW 2 72,056,912 (GRCm39) missense possibly damaging 0.80
R1768:Rapgef4 UTSW 2 72,056,131 (GRCm39) splice site probably benign
R1858:Rapgef4 UTSW 2 71,861,408 (GRCm39) missense possibly damaging 0.67
R1860:Rapgef4 UTSW 2 72,065,064 (GRCm39) missense probably benign 0.05
R1952:Rapgef4 UTSW 2 72,038,471 (GRCm39) missense probably benign 0.07
R2025:Rapgef4 UTSW 2 72,073,083 (GRCm39) missense probably benign 0.01
R2128:Rapgef4 UTSW 2 72,056,897 (GRCm39) missense possibly damaging 0.87
R2159:Rapgef4 UTSW 2 72,005,225 (GRCm39) missense probably damaging 1.00
R2201:Rapgef4 UTSW 2 71,875,533 (GRCm39) missense probably damaging 0.96
R2883:Rapgef4 UTSW 2 71,861,469 (GRCm39) missense probably benign
R3015:Rapgef4 UTSW 2 72,028,717 (GRCm39) missense probably damaging 1.00
R4278:Rapgef4 UTSW 2 72,028,739 (GRCm39) missense possibly damaging 0.95
R5256:Rapgef4 UTSW 2 71,864,378 (GRCm39) missense probably damaging 0.97
R5572:Rapgef4 UTSW 2 71,864,464 (GRCm39) critical splice donor site probably null
R5574:Rapgef4 UTSW 2 71,864,464 (GRCm39) critical splice donor site probably null
R5575:Rapgef4 UTSW 2 71,864,464 (GRCm39) critical splice donor site probably null
R5749:Rapgef4 UTSW 2 72,073,101 (GRCm39) missense probably damaging 1.00
R6007:Rapgef4 UTSW 2 72,010,293 (GRCm39) missense possibly damaging 0.55
R6084:Rapgef4 UTSW 2 72,026,622 (GRCm39) critical splice donor site probably null
R6192:Rapgef4 UTSW 2 71,811,661 (GRCm39) missense probably benign 0.00
R6409:Rapgef4 UTSW 2 72,008,581 (GRCm39) missense probably benign 0.01
R6683:Rapgef4 UTSW 2 71,885,123 (GRCm39) intron probably benign
R6774:Rapgef4 UTSW 2 72,056,119 (GRCm39) missense probably benign 0.01
R6844:Rapgef4 UTSW 2 72,064,970 (GRCm39) missense probably damaging 0.99
R6999:Rapgef4 UTSW 2 72,069,469 (GRCm39) missense probably damaging 1.00
R7077:Rapgef4 UTSW 2 72,071,820 (GRCm39) missense probably damaging 0.96
R7138:Rapgef4 UTSW 2 72,028,707 (GRCm39) missense probably damaging 1.00
R7275:Rapgef4 UTSW 2 72,038,445 (GRCm39) missense probably damaging 1.00
R7352:Rapgef4 UTSW 2 72,010,435 (GRCm39) missense probably damaging 1.00
R7397:Rapgef4 UTSW 2 72,036,010 (GRCm39) missense probably benign 0.23
R7508:Rapgef4 UTSW 2 72,036,077 (GRCm39) missense probably benign 0.00
R7620:Rapgef4 UTSW 2 72,059,422 (GRCm39) missense probably damaging 0.99
R7703:Rapgef4 UTSW 2 72,010,315 (GRCm39) missense probably benign 0.28
R7770:Rapgef4 UTSW 2 72,028,739 (GRCm39) missense possibly damaging 0.95
R7814:Rapgef4 UTSW 2 72,053,461 (GRCm39) missense probably benign
R7868:Rapgef4 UTSW 2 72,031,481 (GRCm39) missense probably benign 0.11
R8210:Rapgef4 UTSW 2 72,056,364 (GRCm39) missense probably benign 0.00
R8967:Rapgef4 UTSW 2 72,056,854 (GRCm39) missense possibly damaging 0.72
R9113:Rapgef4 UTSW 2 71,861,493 (GRCm39) missense probably benign 0.43
R9157:Rapgef4 UTSW 2 72,005,212 (GRCm39) missense probably benign 0.06
R9314:Rapgef4 UTSW 2 72,064,983 (GRCm39) missense possibly damaging 0.52
R9552:Rapgef4 UTSW 2 72,008,561 (GRCm39) missense probably benign
R9578:Rapgef4 UTSW 2 72,026,052 (GRCm39) missense probably damaging 1.00
R9620:Rapgef4 UTSW 2 72,036,051 (GRCm39) missense probably benign 0.01
R9665:Rapgef4 UTSW 2 72,036,018 (GRCm39) missense probably benign 0.17
X0062:Rapgef4 UTSW 2 72,056,951 (GRCm39) missense probably benign 0.05
Posted On 2014-05-07