Incidental Mutation 'R1302:Rapgef4'
ID 158405
Institutional Source Beutler Lab
Gene Symbol Rapgef4
Ensembl Gene ENSMUSG00000049044
Gene Name Rap guanine nucleotide exchange factor (GEF) 4
Synonyms 5730402K07Rik, 6330581N18Rik, Epac2, cAMP-GEFII, 1300003D15Rik
MMRRC Submission 039368-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.648) question?
Stock # R1302 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 71811584-72087818 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71875504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 119 (D119V)
Ref Sequence ENSEMBL: ENSMUSP00000099759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090826] [ENSMUST00000102698]
AlphaFold Q9EQZ6
Predicted Effect probably benign
Transcript: ENSMUST00000090826
AA Change: D119V

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000088336
Gene: ENSMUSG00000049044
AA Change: D119V

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: D119V

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099759
Gene: ENSMUSG00000049044
AA Change: D119V

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: ENSMUST00000150234
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.3%
  • 20x: 86.2%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik A T 8: 125,566,607 (GRCm39) I271N probably damaging Het
5031439G07Rik A G 15: 84,837,477 (GRCm39) Y279H probably damaging Het
Abcg2 T A 6: 58,662,802 (GRCm39) M548K probably damaging Het
Acat1 T C 9: 53,500,525 (GRCm39) D257G possibly damaging Het
Adamts4 G A 1: 171,080,752 (GRCm39) G360R probably damaging Het
Akr1c12 T C 13: 4,322,328 (GRCm39) D238G probably damaging Het
Ankrd1 C T 19: 36,092,403 (GRCm39) G275S probably damaging Het
Ascc3 T A 10: 50,480,890 (GRCm39) M1K probably null Het
Atf7ip2 T C 16: 10,058,472 (GRCm39) S304P possibly damaging Het
Casp4 T A 9: 5,328,518 (GRCm39) C333* probably null Het
Ccdc68 G A 18: 70,072,033 (GRCm39) V37M probably damaging Het
Cda T A 4: 138,078,502 (GRCm39) I87F probably damaging Het
Chst1 A T 2: 92,443,864 (GRCm39) D112V probably damaging Het
Chtf18 T C 17: 25,938,132 (GRCm39) D967G probably damaging Het
Col5a1 A G 2: 27,895,248 (GRCm39) R1106G probably damaging Het
Coro1b T G 19: 4,199,376 (GRCm39) F12V probably damaging Het
Ctif G T 18: 75,654,749 (GRCm39) P259Q probably benign Het
Duox1 A T 2: 122,177,760 (GRCm39) I1515F probably benign Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Flt1 A G 5: 147,501,050 (GRCm39) Y1328H possibly damaging Het
Frem2 T C 3: 53,562,959 (GRCm39) D516G probably benign Het
Gin1 A T 1: 97,703,314 (GRCm39) K46* probably null Het
Gle1 C G 2: 29,842,564 (GRCm39) probably null Het
Gm11146 T G 16: 77,398,970 (GRCm39) I5L unknown Het
Gpr153 C T 4: 152,364,400 (GRCm39) T152M probably damaging Het
H1f8 A T 6: 115,924,610 (GRCm39) R39* probably null Het
Hdlbp A T 1: 93,351,107 (GRCm39) probably null Het
Ifi207 A T 1: 173,562,861 (GRCm39) L95Q possibly damaging Het
Ikzf3 G T 11: 98,407,746 (GRCm39) P32T probably benign Het
Ints10 T A 8: 69,279,964 (GRCm39) V697E probably damaging Het
Krt14 A G 11: 100,094,173 (GRCm39) S474P probably damaging Het
L3mbtl3 T A 10: 26,203,667 (GRCm39) I388F unknown Het
Ldha A C 7: 46,497,063 (GRCm39) Q7P probably damaging Het
Lrwd1 A G 5: 136,161,267 (GRCm39) S232P probably benign Het
Med1 G T 11: 98,048,275 (GRCm39) D840E possibly damaging Het
Med23 T A 10: 24,764,320 (GRCm39) probably null Het
Naip5 G A 13: 100,358,099 (GRCm39) P1046S possibly damaging Het
Ndufa4l2 A T 10: 127,351,301 (GRCm39) M31L probably benign Het
Nlrp4f A G 13: 65,342,371 (GRCm39) S425P possibly damaging Het
Nova1 A T 12: 46,767,581 (GRCm39) H113Q unknown Het
Npc1 T C 18: 12,328,142 (GRCm39) K1056E probably benign Het
Nrbp1 A G 5: 31,407,233 (GRCm39) H354R probably benign Het
Ogfod3 A G 11: 121,074,300 (GRCm39) F250L probably damaging Het
Pclo A G 5: 14,731,647 (GRCm39) D3383G unknown Het
Pde1b T A 15: 103,436,026 (GRCm39) D457E probably benign Het
Pkd1 C G 17: 24,787,210 (GRCm39) S581R probably benign Het
Pno1 T A 11: 17,154,545 (GRCm39) Q212L probably benign Het
Polr3b C T 10: 84,468,350 (GRCm39) P112L probably damaging Het
Pomk T A 8: 26,473,102 (GRCm39) I284F probably damaging Het
Rprm A T 2: 53,975,165 (GRCm39) L51Q probably benign Het
Spata31e5 A T 1: 28,815,421 (GRCm39) D870E probably benign Het
Taok3 A C 5: 117,337,108 (GRCm39) S58R possibly damaging Het
Tmprss9 T A 10: 80,730,963 (GRCm39) S830T probably benign Het
Tnfrsf1a G A 6: 125,333,879 (GRCm39) C44Y probably damaging Het
Ubr5 A T 15: 38,041,723 (GRCm39) D235E possibly damaging Het
Vapb C A 2: 173,613,330 (GRCm39) F76L possibly damaging Het
Vmn2r72 T C 7: 85,387,465 (GRCm39) I700V probably damaging Het
Wwc1 G A 11: 35,734,984 (GRCm39) R964W probably damaging Het
Zfp644 A T 5: 106,782,765 (GRCm39) V1203D 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
IGL01935:Rapgef4 APN 2 72,064,467 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- ACACCCACTGAGCTGTGTGAGAAC -3'
(R):5'- TGACCGTTACGCCATTACCCAC -3'

Sequencing Primer
(F):5'- aggggtgaaagataggggg -3'
(R):5'- ATTACCCACGAGGCAGTtc -3'
Posted On 2014-02-18