Incidental Mutation 'IGL01973:Rapgef2'
ID 182616
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 # IGL01973
Quality Score
Status
Chromosome 3
Chromosomal Location 78969823-79193824 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to A at 78999116 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik A G 12: 17,061,172 (GRCm39) W59R probably damaging Het
Adam17 C T 12: 21,399,944 (GRCm39) R154K probably damaging Het
Ajm1 G T 2: 25,469,584 (GRCm39) S109* probably null Het
Atp9b A T 18: 80,801,518 (GRCm39) F791I probably benign Het
Atr T G 9: 95,753,727 (GRCm39) S776R probably damaging Het
AW554918 A T 18: 25,553,056 (GRCm39) T487S probably damaging Het
Bckdhb T A 9: 83,873,789 (GRCm39) F217Y probably benign Het
Cacna1i G A 15: 80,266,234 (GRCm39) A1574T probably damaging Het
Ccdc150 G A 1: 54,339,647 (GRCm39) probably null Het
Clca4c-ps A T 3: 144,585,593 (GRCm39) noncoding transcript Het
Clec4a1 T C 6: 122,907,680 (GRCm39) S123P probably damaging Het
Col6a4 T C 9: 105,940,093 (GRCm39) Y1279C probably damaging Het
Cox8c T A 12: 102,865,626 (GRCm39) M1K probably null Het
Crat G T 2: 30,295,493 (GRCm39) S370Y probably damaging Het
Cts7 A T 13: 61,503,414 (GRCm39) D183E probably benign Het
Cyp1a2 C A 9: 57,589,678 (GRCm39) W45C probably damaging Het
Eml5 T A 12: 98,829,539 (GRCm39) I492L probably benign Het
Fbxl4 T G 4: 22,422,766 (GRCm39) L456R probably damaging Het
Flt1 G T 5: 147,620,699 (GRCm39) H148Q probably benign Het
Galnt3 T C 2: 65,914,606 (GRCm39) M604V probably benign Het
Gatb T C 3: 85,518,731 (GRCm39) V279A probably damaging Het
Heatr1 C A 13: 12,444,680 (GRCm39) H1543Q probably benign Het
Ighg2b C T 12: 113,271,305 (GRCm39) V83I unknown Het
Jcad A G 18: 4,675,514 (GRCm39) Q1092R probably benign Het
Kirrel3 A G 9: 34,927,764 (GRCm39) E6G probably damaging Het
Klhl22 A G 16: 17,610,575 (GRCm39) S609G probably benign Het
Kntc1 A G 5: 123,904,021 (GRCm39) Y346C probably damaging Het
Maneal T C 4: 124,752,948 (GRCm39) D233G probably benign Het
Mcm3ap T C 10: 76,306,951 (GRCm39) S355P probably benign Het
Mtus2 C T 5: 148,240,286 (GRCm39) probably benign Het
Muc4 A G 16: 32,575,383 (GRCm39) T1380A probably benign Het
Nedd4 T A 9: 72,644,216 (GRCm39) M661K possibly damaging Het
Nomo1 T C 7: 45,732,651 (GRCm39) probably benign Het
Ntmt2 A G 1: 163,544,689 (GRCm39) I98T probably benign Het
Ntsr2 T A 12: 16,706,775 (GRCm39) W268R probably benign Het
Nup188 A C 2: 30,229,862 (GRCm39) Q1360P possibly damaging Het
Or2c1 A T 16: 3,657,641 (GRCm39) Q268L probably damaging Het
Or6k6 A G 1: 173,945,099 (GRCm39) F161S probably damaging Het
Pabpc1 A T 15: 36,599,519 (GRCm39) V392E probably benign Het
Pcdhb11 C A 18: 37,556,565 (GRCm39) R632S probably damaging Het
Phf11 A G 14: 59,488,578 (GRCm39) V73A probably benign Het
Pnpla6 T A 8: 3,567,619 (GRCm39) M87K probably damaging Het
Prkd1 C T 12: 50,413,162 (GRCm39) G670R probably damaging Het
Raf1 G A 6: 115,653,530 (GRCm39) probably benign Het
Rnf215 A T 11: 4,086,615 (GRCm39) H164L probably damaging Het
Slc24a3 T C 2: 145,086,947 (GRCm39) V19A probably benign Het
Tbc1d16 A T 11: 119,047,533 (GRCm39) V396E probably benign Het
Tecpr1 T C 5: 144,134,806 (GRCm39) probably benign Het
Thap12 T A 7: 98,365,706 (GRCm39) Y625N possibly damaging Het
Tshz2 A T 2: 169,726,603 (GRCm39) M400L probably damaging Het
Ttc28 A G 5: 111,372,101 (GRCm39) Y850C possibly damaging Het
Ugt1a7c A G 1: 88,022,856 (GRCm39) D5G probably benign Het
Vmn2r10 C T 5: 109,143,543 (GRCm39) M802I probably damaging Het
Washc4 T C 10: 83,391,973 (GRCm39) Y220H probably damaging Het
Zfhx3 T A 8: 109,673,825 (GRCm39) M1625K probably damaging Het
Zfp677 T A 17: 21,617,169 (GRCm39) N75K probably damaging Het
Zzz3 T C 3: 152,134,007 (GRCm39) V355A 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
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
IGL03030:Rapgef2 APN 3 78,981,614 (GRCm39) critical splice donor site probably null
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 2014-05-07