Incidental Mutation 'IGL03030:Rapgef2'
ID 408415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rapgef2
Ensembl Gene ENSMUSG00000062232
Gene Name Rap guanine nucleotide exchange factor (GEF) 2
Synonyms CNRasGEF, nRapGEP, 5830453M24Rik, RA-GEF-1, Pdzgef1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03030
Quality Score
Status
Chromosome 3
Chromosomal Location 78969823-79193824 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 78981614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118100] [ENSMUST00000118340] [ENSMUST00000195708]
AlphaFold Q8CHG7
Predicted Effect probably null
Transcript: ENSMUST00000118100
SMART Domains Protein: ENSMUSP00000114119
Gene: ENSMUSG00000062232

DomainStartEndE-ValueType
low complexity region 38 62 N/A INTRINSIC
low complexity region 84 95 N/A INTRINSIC
cNMP 135 253 2.48e-15 SMART
RasGEFN 267 380 1.3e-31 SMART
PDZ 395 467 1.28e-12 SMART
RA 606 692 7.59e-23 SMART
RasGEF 713 950 6.09e-100 SMART
low complexity region 1030 1046 N/A INTRINSIC
low complexity region 1110 1124 N/A INTRINSIC
low complexity region 1140 1161 N/A INTRINSIC
low complexity region 1392 1405 N/A INTRINSIC
low complexity region 1440 1455 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118340
SMART Domains Protein: ENSMUSP00000113778
Gene: ENSMUSG00000062232

DomainStartEndE-ValueType
low complexity region 36 60 N/A INTRINSIC
low complexity region 82 93 N/A INTRINSIC
cNMP 133 251 2.48e-15 SMART
RasGEFN 265 378 1.3e-31 SMART
PDZ 393 465 1.28e-12 SMART
RA 604 690 7.59e-23 SMART
RasGEF 711 948 6.09e-100 SMART
low complexity region 1028 1044 N/A INTRINSIC
low complexity region 1108 1122 N/A INTRINSIC
low complexity region 1138 1159 N/A INTRINSIC
low complexity region 1390 1403 N/A INTRINSIC
low complexity region 1438 1453 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000195708
SMART Domains Protein: ENSMUSP00000141542
Gene: ENSMUSG00000062232

DomainStartEndE-ValueType
cNMP 24 131 3.9e-4 SMART
low complexity region 186 210 N/A INTRINSIC
low complexity region 232 243 N/A INTRINSIC
cNMP 283 401 1.2e-17 SMART
RasGEFN 415 528 6.4e-34 SMART
PDZ 543 615 6.4e-15 SMART
RA 754 840 4.8e-25 SMART
RasGEF 861 1098 3.8e-102 SMART
low complexity region 1178 1194 N/A INTRINSIC
low complexity region 1258 1272 N/A INTRINSIC
low complexity region 1288 1309 N/A INTRINSIC
low complexity region 1540 1553 N/A INTRINSIC
low complexity region 1588 1603 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for a null allele die at mid-gestation exhibiting growth arrest and defects in vascular development, neural tube closure and embryo turning. Homozygotes for another null allele show yolk sac vascular defects, impaired cell physiology and heart, primitive gut, liver and brain formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A G 7: 43,145,057 (GRCm39) V367A possibly damaging Het
Abcb5 A T 12: 118,904,104 (GRCm39) S200R possibly damaging Het
Adam29 T C 8: 56,326,100 (GRCm39) D118G probably damaging Het
Adh4 A G 3: 138,134,906 (GRCm39) D360G probably benign Het
Ankle2 A G 5: 110,399,476 (GRCm39) Q611R possibly damaging Het
Ankra2 C T 13: 98,409,881 (GRCm39) probably benign Het
Ap1g2 T A 14: 55,343,504 (GRCm39) I28F probably damaging Het
Baz2a C T 10: 127,961,015 (GRCm39) T1608I possibly damaging Het
Cacnb4 T C 2: 52,364,894 (GRCm39) D123G probably damaging Het
Cage1 G A 13: 38,212,123 (GRCm39) T51M probably benign Het
Ccdc63 A G 5: 122,260,876 (GRCm39) V216A probably benign Het
Ccnd2 A G 6: 127,125,841 (GRCm39) V65A probably damaging Het
Cfap20dc A G 14: 8,511,113 (GRCm38) S434P probably damaging Het
Chd3 T A 11: 69,245,230 (GRCm39) T1163S possibly damaging Het
Cmbl A G 15: 31,589,823 (GRCm39) probably benign Het
Cobl G T 11: 12,204,241 (GRCm39) N813K possibly damaging Het
Cog5 G A 12: 31,840,921 (GRCm39) V249M probably damaging Het
Cps1 A G 1: 67,182,080 (GRCm39) N98S probably damaging Het
Cracd A G 5: 77,005,463 (GRCm39) D608G unknown Het
D630045J12Rik A T 6: 38,126,648 (GRCm39) I1454N probably damaging Het
Elmo2 A G 2: 165,136,237 (GRCm39) V603A possibly damaging Het
F12 A G 13: 55,569,332 (GRCm39) probably benign Het
Ficd G A 5: 113,874,990 (GRCm39) V20I probably benign Het
Gatad2b G T 3: 90,249,244 (GRCm39) G94V probably benign Het
Gm4845 G A 1: 141,184,403 (GRCm39) noncoding transcript Het
Hrnr G A 3: 93,227,908 (GRCm39) V9I possibly damaging Het
Kifc3 A G 8: 95,829,040 (GRCm39) S584P probably damaging Het
Klk1b24 C A 7: 43,840,790 (GRCm39) Q73K probably benign Het
Lrp10 C A 14: 54,706,619 (GRCm39) N518K possibly damaging Het
Lsr A G 7: 30,658,706 (GRCm39) V247A possibly damaging Het
Mfsd6 A T 1: 52,748,862 (GRCm39) M1K probably null Het
Mprip T A 11: 59,631,941 (GRCm39) probably null Het
Myo3b G T 2: 70,257,160 (GRCm39) probably benign Het
Oprd1 A G 4: 131,844,696 (GRCm39) F104S possibly damaging Het
Or1l4 T C 2: 37,091,883 (GRCm39) V210A probably benign Het
Or2g1 T A 17: 38,107,162 (GRCm39) Y276N probably damaging Het
Or4b1d A T 2: 89,969,006 (GRCm39) I159N possibly damaging Het
Or5ar1 T C 2: 85,671,416 (GRCm39) T240A probably damaging Het
Or5b109 C T 19: 13,212,418 (GRCm39) S268L probably damaging Het
Palb2 A G 7: 121,712,479 (GRCm39) V591A probably damaging Het
Pcdhb18 A T 18: 37,623,786 (GRCm39) D372V probably damaging Het
Phc3 A G 3: 30,991,002 (GRCm39) V405A probably damaging Het
Phf20l1 A T 15: 66,513,796 (GRCm39) probably benign Het
Pik3ip1 A G 11: 3,283,259 (GRCm39) K57E possibly damaging Het
Pkhd1l1 G A 15: 44,455,372 (GRCm39) M4044I probably benign Het
Pkhd1l1 T C 15: 44,460,298 (GRCm39) V4169A probably benign Het
Pklr A T 3: 89,049,963 (GRCm39) I313F probably damaging Het
Plxna4 T A 6: 32,179,160 (GRCm39) T952S probably benign Het
Pop4 A T 7: 37,962,730 (GRCm39) I178N probably damaging Het
Prorp A G 12: 55,351,429 (GRCm39) D246G probably damaging Het
Prss40 A C 1: 34,597,182 (GRCm39) V122G probably damaging Het
Rbm19 A G 5: 120,269,311 (GRCm39) D538G probably damaging Het
Rnf44 G A 13: 54,829,803 (GRCm39) R312* probably null Het
Rock1 T C 18: 10,070,215 (GRCm39) probably benign Het
Rrp1b A G 17: 32,275,875 (GRCm39) E474G probably damaging Het
Ryr2 T A 13: 11,699,365 (GRCm39) I2959F probably damaging Het
Sidt2 A G 9: 45,850,803 (GRCm39) S801P probably damaging Het
Skint6 T C 4: 112,870,153 (GRCm39) I602V probably benign Het
Slc6a19 C A 13: 73,848,590 (GRCm39) V55L probably damaging Het
Smarca4 C T 9: 21,547,132 (GRCm39) T219I probably benign Het
Trappc11 C A 8: 47,966,964 (GRCm39) V440F probably damaging Het
Vmn1r236 G A 17: 21,507,108 (GRCm39) W75* probably null Het
Vmn2r52 A G 7: 9,892,799 (GRCm39) F780S probably benign Het
Vmn2r82 G T 10: 79,217,149 (GRCm39) A494S possibly damaging Het
Vwa3b A T 1: 37,084,049 (GRCm39) K74M probably damaging Het
Wrn T A 8: 33,738,989 (GRCm39) I1037F possibly damaging Het
Zfp13 T C 17: 23,799,819 (GRCm39) T82A probably benign Het
Zfp82 T C 7: 29,756,890 (GRCm39) E64G probably benign Het
Other mutations in Rapgef2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Rapgef2 APN 3 78,999,332 (GRCm39) missense possibly damaging 0.89
IGL01024:Rapgef2 APN 3 78,977,445 (GRCm39) missense probably benign 0.43
IGL01448:Rapgef2 APN 3 79,011,269 (GRCm39) critical splice donor site probably null
IGL01448:Rapgef2 APN 3 78,976,244 (GRCm39) missense probably benign
IGL01928:Rapgef2 APN 3 79,011,270 (GRCm39) missense probably damaging 1.00
IGL01973:Rapgef2 APN 3 78,999,116 (GRCm39) splice site probably null
IGL02015:Rapgef2 APN 3 78,999,371 (GRCm39) splice site probably benign
IGL02498:Rapgef2 APN 3 78,974,060 (GRCm39) missense probably damaging 0.97
IGL02631:Rapgef2 APN 3 78,990,533 (GRCm39) missense possibly damaging 0.77
IGL02835:Rapgef2 APN 3 79,000,293 (GRCm39) splice site probably benign
IGL02887:Rapgef2 APN 3 78,976,187 (GRCm39) splice site probably benign
IGL03035:Rapgef2 APN 3 79,001,731 (GRCm39) missense probably damaging 1.00
IGL03222:Rapgef2 APN 3 78,995,302 (GRCm39) missense probably damaging 1.00
IGL03227:Rapgef2 APN 3 78,999,920 (GRCm39) splice site probably benign
IGL03326:Rapgef2 APN 3 78,999,140 (GRCm39) missense probably damaging 0.96
IGL03335:Rapgef2 APN 3 79,006,492 (GRCm39) missense probably damaging 1.00
IGL03384:Rapgef2 APN 3 78,990,853 (GRCm39) missense probably damaging 1.00
Bulge UTSW 3 78,986,439 (GRCm39) missense probably benign 0.01
Hai_phat UTSW 3 78,993,266 (GRCm39) missense probably damaging 1.00
R0022:Rapgef2 UTSW 3 78,995,207 (GRCm39) missense probably damaging 1.00
R0022:Rapgef2 UTSW 3 78,995,207 (GRCm39) missense probably damaging 1.00
R0038:Rapgef2 UTSW 3 78,976,703 (GRCm39) missense probably benign 0.00
R0117:Rapgef2 UTSW 3 78,986,484 (GRCm39) missense probably benign 0.00
R0225:Rapgef2 UTSW 3 79,011,412 (GRCm39) missense probably damaging 0.99
R0723:Rapgef2 UTSW 3 78,986,481 (GRCm39) missense probably benign 0.20
R0788:Rapgef2 UTSW 3 79,006,502 (GRCm39) missense possibly damaging 0.59
R1311:Rapgef2 UTSW 3 78,990,854 (GRCm39) missense probably benign 0.12
R1374:Rapgef2 UTSW 3 78,995,275 (GRCm39) missense probably benign 0.08
R1507:Rapgef2 UTSW 3 78,988,600 (GRCm39) splice site probably benign
R1523:Rapgef2 UTSW 3 79,000,056 (GRCm39) missense probably damaging 1.00
R1753:Rapgef2 UTSW 3 78,996,098 (GRCm39) missense possibly damaging 0.65
R1759:Rapgef2 UTSW 3 78,974,038 (GRCm39) missense possibly damaging 0.89
R1766:Rapgef2 UTSW 3 79,000,010 (GRCm39) missense probably damaging 1.00
R2436:Rapgef2 UTSW 3 78,996,079 (GRCm39) missense possibly damaging 0.95
R3033:Rapgef2 UTSW 3 78,981,613 (GRCm39) critical splice donor site probably null
R3766:Rapgef2 UTSW 3 78,996,057 (GRCm39) missense probably benign 0.01
R4118:Rapgef2 UTSW 3 78,976,194 (GRCm39) critical splice donor site probably null
R4416:Rapgef2 UTSW 3 78,976,364 (GRCm39) nonsense probably null
R4722:Rapgef2 UTSW 3 78,976,480 (GRCm39) missense probably benign 0.00
R4743:Rapgef2 UTSW 3 79,080,375 (GRCm39) missense probably damaging 0.99
R4780:Rapgef2 UTSW 3 79,077,076 (GRCm39) splice site probably benign
R4825:Rapgef2 UTSW 3 78,990,534 (GRCm39) missense probably benign 0.03
R4861:Rapgef2 UTSW 3 78,981,743 (GRCm39) missense probably benign 0.01
R4861:Rapgef2 UTSW 3 78,981,743 (GRCm39) missense probably benign 0.01
R4900:Rapgef2 UTSW 3 78,981,670 (GRCm39) missense probably benign 0.02
R4943:Rapgef2 UTSW 3 78,971,854 (GRCm39) missense probably benign 0.00
R5291:Rapgef2 UTSW 3 78,977,366 (GRCm39) missense possibly damaging 0.64
R5369:Rapgef2 UTSW 3 78,976,739 (GRCm39) missense probably benign 0.00
R5413:Rapgef2 UTSW 3 78,995,173 (GRCm39) missense probably damaging 1.00
R5561:Rapgef2 UTSW 3 78,995,950 (GRCm39) critical splice donor site probably null
R5568:Rapgef2 UTSW 3 79,011,308 (GRCm39) missense probably damaging 1.00
R5642:Rapgef2 UTSW 3 79,002,157 (GRCm39) missense probably damaging 1.00
R5783:Rapgef2 UTSW 3 78,995,300 (GRCm39) missense probably benign 0.00
R6041:Rapgef2 UTSW 3 78,976,469 (GRCm39) missense probably benign 0.00
R6193:Rapgef2 UTSW 3 78,976,751 (GRCm39) missense possibly damaging 0.48
R6324:Rapgef2 UTSW 3 78,986,439 (GRCm39) missense probably benign 0.01
R6551:Rapgef2 UTSW 3 79,122,342 (GRCm39) splice site probably null
R6688:Rapgef2 UTSW 3 78,976,435 (GRCm39) missense probably benign 0.03
R6908:Rapgef2 UTSW 3 79,011,370 (GRCm39) missense probably benign 0.01
R6913:Rapgef2 UTSW 3 78,993,281 (GRCm39) missense probably damaging 1.00
R6933:Rapgef2 UTSW 3 78,993,266 (GRCm39) missense probably damaging 1.00
R7086:Rapgef2 UTSW 3 78,993,353 (GRCm39) missense probably benign 0.08
R7106:Rapgef2 UTSW 3 78,973,915 (GRCm39) missense probably benign
R7228:Rapgef2 UTSW 3 78,976,525 (GRCm39) missense probably benign 0.03
R7242:Rapgef2 UTSW 3 78,995,210 (GRCm39) nonsense probably null
R7257:Rapgef2 UTSW 3 78,989,934 (GRCm39) missense probably damaging 0.99
R7322:Rapgef2 UTSW 3 79,053,130 (GRCm39) start codon destroyed probably null 0.02
R7443:Rapgef2 UTSW 3 78,988,531 (GRCm39) missense probably damaging 1.00
R7450:Rapgef2 UTSW 3 79,080,366 (GRCm39) missense probably benign 0.01
R7472:Rapgef2 UTSW 3 78,976,580 (GRCm39) missense probably benign 0.45
R7884:Rapgef2 UTSW 3 78,973,933 (GRCm39) missense possibly damaging 0.49
R7954:Rapgef2 UTSW 3 78,977,454 (GRCm39) nonsense probably null
R7957:Rapgef2 UTSW 3 79,122,276 (GRCm39) missense probably benign 0.27
R8071:Rapgef2 UTSW 3 79,000,343 (GRCm39) missense probably damaging 1.00
R8261:Rapgef2 UTSW 3 78,993,325 (GRCm39) missense probably benign 0.34
R8268:Rapgef2 UTSW 3 78,993,263 (GRCm39) missense probably benign 0.12
R8309:Rapgef2 UTSW 3 78,990,509 (GRCm39) missense possibly damaging 0.65
R8505:Rapgef2 UTSW 3 78,986,349 (GRCm39) nonsense probably null
R8783:Rapgef2 UTSW 3 79,005,651 (GRCm39) missense probably damaging 1.00
R8897:Rapgef2 UTSW 3 79,019,566 (GRCm39) missense probably damaging 1.00
R8965:Rapgef2 UTSW 3 78,999,851 (GRCm39) missense probably damaging 1.00
R9028:Rapgef2 UTSW 3 78,981,651 (GRCm39) missense probably damaging 1.00
R9284:Rapgef2 UTSW 3 79,000,010 (GRCm39) missense probably damaging 1.00
R9371:Rapgef2 UTSW 3 79,082,300 (GRCm39) missense probably damaging 1.00
R9479:Rapgef2 UTSW 3 79,019,495 (GRCm39) missense probably damaging 1.00
R9493:Rapgef2 UTSW 3 79,019,495 (GRCm39) missense probably damaging 1.00
R9494:Rapgef2 UTSW 3 79,019,495 (GRCm39) missense probably damaging 1.00
R9500:Rapgef2 UTSW 3 78,974,093 (GRCm39) missense probably benign
R9657:Rapgef2 UTSW 3 78,999,191 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02