Incidental Mutation 'R5413:Rapgef2'
ID 427572
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 042982-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5413 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 78969823-79193824 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78995173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 677 (D677G)
Ref Sequence ENSEMBL: ENSMUSP00000114119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118100] [ENSMUST00000118340] [ENSMUST00000195708]
AlphaFold Q8CHG7
Predicted Effect probably damaging
Transcript: ENSMUST00000118100
AA Change: D677G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114119
Gene: ENSMUSG00000062232
AA Change: D677G

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 possibly damaging
Transcript: ENSMUST00000118340
AA Change: D675G

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113778
Gene: ENSMUSG00000062232
AA Change: D675G

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 damaging
Transcript: ENSMUST00000195708
AA Change: D825G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141542
Gene: ENSMUSG00000062232
AA Change: D825G

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 48,911,204 (GRCm39) T410S possibly damaging Het
Adamts3 A G 5: 89,856,626 (GRCm39) S316P probably damaging Het
Angptl3 A T 4: 98,919,259 (GRCm39) L6F probably benign Het
Clint1 T C 11: 45,777,307 (GRCm39) V98A probably damaging Het
Clk2 A G 3: 89,080,785 (GRCm39) N258S probably benign Het
Col18a1 T C 10: 76,905,310 (GRCm39) D723G probably damaging Het
Csmd3 A T 15: 47,701,831 (GRCm39) W1751R probably damaging Het
Daam1 C A 12: 71,993,066 (GRCm39) L352M unknown Het
Dennd2a A T 6: 39,441,227 (GRCm39) F964I probably damaging Het
Dock5 A G 14: 68,002,104 (GRCm39) L1622P probably damaging Het
Dpy19l4 A G 4: 11,289,700 (GRCm39) L195P probably damaging Het
Esp24 A C 17: 39,350,893 (GRCm39) E31A possibly damaging Het
Fars2 T A 13: 36,388,545 (GRCm39) Y11* probably null Het
Fbxl16 C A 17: 26,035,817 (GRCm39) T138K possibly damaging Het
Frmpd1 A G 4: 45,249,196 (GRCm39) I129V probably benign Het
Gria1 A G 11: 57,108,620 (GRCm39) N241S probably benign Het
Homer1 A G 13: 93,528,287 (GRCm39) E274G probably benign Het
Igdcc3 T C 9: 65,084,797 (GRCm39) V189A possibly damaging Het
Igkv12-98 A G 6: 68,548,078 (GRCm39) Y68C possibly damaging Het
Igkv3-3 G C 6: 70,664,414 (GRCm39) R85S probably damaging Het
Ldha A G 7: 46,500,320 (GRCm39) T144A possibly damaging Het
Lrp1 A G 10: 127,423,936 (GRCm39) probably null Het
Myh9 A T 15: 77,692,186 (GRCm39) Y124* probably null Het
Or14c44 A G 7: 86,061,675 (GRCm39) Y35C probably benign Het
Or2n1d G T 17: 38,646,515 (GRCm39) A156S probably benign Het
Or2y1b A T 11: 49,209,240 (GRCm39) Y289F probably damaging Het
Or6b13 A T 7: 139,782,635 (GRCm39) V16E possibly damaging Het
Osbp T C 19: 11,961,855 (GRCm39) Y551H probably damaging Het
Paf1 T C 7: 28,096,040 (GRCm39) M249T possibly damaging Het
Pcsk2 T C 2: 143,538,620 (GRCm39) probably null Het
Piwil1 G A 5: 128,820,944 (GRCm39) V290I possibly damaging Het
Prmt9 A T 8: 78,298,638 (GRCm39) D444V possibly damaging Het
Tmem59 A G 4: 107,057,659 (GRCm39) E237G probably benign Het
Trpm5 A T 7: 142,634,705 (GRCm39) I664N probably damaging Het
Unc13b G A 4: 43,257,936 (GRCm39) probably null Het
Usp17lc C A 7: 103,067,763 (GRCm39) Q353K probably benign Het
Uvssa G A 5: 33,568,252 (GRCm39) V547M probably damaging Het
Vdac1 G T 11: 52,265,794 (GRCm39) L52F probably null Het
Vmn2r14 T A 5: 109,369,154 (GRCm39) I140L probably benign Het
Wnt3a A G 11: 59,166,182 (GRCm39) S33P probably benign Het
Wwp2 T A 8: 108,281,710 (GRCm39) Y300N probably damaging Het
Zwilch T A 9: 64,075,892 (GRCm39) probably null 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
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
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'- GAACCCAATTTATTCATGGGACTG -3'
(R):5'- TCCCCTAGACTTGCCAGATC -3'

Sequencing Primer
(F):5'- GACTGATTTCCCTAAGAGTGCTCAG -3'
(R):5'- CTGAGAGTTTTCAAGGCTGACCAAC -3'
Posted On 2016-09-01