Incidental Mutation 'R0038:Rapgef2'
ID 32799
Institutional Source Beutler Lab
Gene Symbol Rapgef2
Ensembl Gene ENSMUSG00000062232
Gene Name Rap guanine nucleotide exchange factor (GEF) 2
Synonyms CNRasGEF, nRapGEP, 5830453M24Rik, RA-GEF-1, Pdzgef1
MMRRC Submission 038332-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0038 (G1)
Quality Score 99
Status Validated
Chromosome 3
Chromosomal Location 78969823-79193824 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78976703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1368 (I1368V)
Ref Sequence ENSEMBL: ENSMUSP00000141542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118100] [ENSMUST00000118340] [ENSMUST00000195708]
AlphaFold Q8CHG7
Predicted Effect probably benign
Transcript: ENSMUST00000118100
AA Change: I1220V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114119
Gene: ENSMUSG00000062232
AA Change: I1220V

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 benign
Transcript: ENSMUST00000118340
AA Change: I1218V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113778
Gene: ENSMUSG00000062232
AA Change: I1218V

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 benign
Transcript: ENSMUST00000195708
AA Change: I1368V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141542
Gene: ENSMUSG00000062232
AA Change: I1368V

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
Meta Mutation Damage Score 0.0585 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (72/72)
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
Agfg1 T C 1: 82,863,823 (GRCm39) probably benign Het
Ankrd28 A T 14: 31,429,992 (GRCm39) M892K probably damaging Het
Arhgef25 T C 10: 127,022,734 (GRCm39) probably benign Het
Arl9 G A 5: 77,154,322 (GRCm39) E17K probably benign Het
Bbs9 G A 9: 22,415,390 (GRCm39) V105I probably benign Het
Celsr1 A T 15: 85,813,620 (GRCm39) N1997K possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cldn8 A G 16: 88,359,922 (GRCm39) M1T probably null Het
Clec11a A G 7: 43,955,906 (GRCm39) probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Col19a1 A T 1: 24,598,825 (GRCm39) L56Q unknown Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cyp2b10 G A 7: 25,614,287 (GRCm39) A254T probably benign Het
Ddx39a T C 8: 84,449,127 (GRCm39) L305P probably damaging Het
Depdc5 A G 5: 33,026,197 (GRCm39) E60G probably benign Het
Eif2ak2 T A 17: 79,171,384 (GRCm39) M340L probably benign Het
Etl4 A T 2: 20,748,385 (GRCm39) H39L probably damaging Het
Fat3 T C 9: 15,826,306 (GRCm39) T4549A probably damaging Het
Fbxw28 A T 9: 109,167,608 (GRCm39) W50R probably damaging Het
Ggt7 T C 2: 155,344,701 (GRCm39) D214G probably benign Het
Gramd1b G A 9: 40,228,822 (GRCm39) T252M probably damaging Het
Grin1 T C 2: 25,187,471 (GRCm39) N613S probably null Het
Hcrtr2 A T 9: 76,166,963 (GRCm39) S125T probably benign Het
Hr T C 14: 70,805,525 (GRCm39) L1091P probably damaging Het
Htr2a T G 14: 74,943,687 (GRCm39) S422R probably benign Het
Ighmbp2 A G 19: 3,312,097 (GRCm39) S886P probably damaging Het
Iqcg C A 16: 32,866,012 (GRCm39) L110F probably benign Het
Kirrel3 T A 9: 34,823,066 (GRCm39) probably null Het
Kremen1 A C 11: 5,157,703 (GRCm39) probably benign Het
Lama2 T C 10: 26,862,793 (GRCm39) D2990G probably benign Het
Lin52 C G 12: 84,576,499 (GRCm39) L111V probably damaging Het
Myh15 T C 16: 48,891,504 (GRCm39) probably benign Het
Ncor1 A G 11: 62,283,377 (GRCm39) F437L probably damaging Het
Nlrp1b A G 11: 71,062,997 (GRCm39) S685P possibly damaging Het
Oog4 T C 4: 143,165,514 (GRCm39) D211G probably benign Het
Oscar A G 7: 3,619,072 (GRCm39) V2A probably benign Het
Pdzd8 A G 19: 59,288,028 (GRCm39) I1124T possibly damaging Het
Pgm3 A T 9: 86,446,726 (GRCm39) probably benign Het
Pnpla5 A G 15: 84,006,714 (GRCm39) Y90H probably damaging Het
Polr1b C T 2: 128,957,588 (GRCm39) R548* probably null Het
Ptprg T A 14: 12,213,710 (GRCm38) M1026K probably damaging Het
Rab5b C T 10: 128,518,772 (GRCm39) R120Q probably benign Het
Rnf168 T C 16: 32,117,813 (GRCm39) V458A probably benign Het
Rnf32 T C 5: 29,410,652 (GRCm39) probably benign Het
Sclt1 T C 3: 41,583,943 (GRCm39) probably benign Het
Serpina12 A G 12: 104,004,216 (GRCm39) F139L probably damaging Het
Sos2 T G 12: 69,643,467 (GRCm39) Q971P probably damaging Het
Stag3 T A 5: 138,299,298 (GRCm39) probably null Het
Stard5 T C 7: 83,285,951 (GRCm39) probably benign Het
Stard9 T A 2: 120,526,313 (GRCm39) C857S probably benign Het
Suclg1 A G 6: 73,237,486 (GRCm39) E77G probably benign Het
Trpm7 A G 2: 126,637,388 (GRCm39) S204P probably damaging Het
Ush2a G T 1: 188,358,809 (GRCm39) G2112C probably benign Het
Vmn2r15 T A 5: 109,441,010 (GRCm39) T283S possibly damaging Het
Wdr6 A T 9: 108,450,168 (GRCm39) V1120D probably damaging Het
Zfp644 T G 5: 106,782,909 (GRCm39) E1155A 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
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
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
Predicted Primers PCR Primer
(F):5'- CAAATGGCAGTGTTTCCCAGCTTC -3'
(R):5'- TGCAGCAGTAGTAGACACAGTCCAG -3'

Sequencing Primer
(F):5'- CAGCTTCTCTGGTGCTGAATG -3'
(R):5'- tggcagctcatgtctatcatc -3'
Posted On 2013-05-09