Incidental Mutation 'R6041:Rapgef2'
ID 483533
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 044209-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6041 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 78969823-79193824 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78976469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1296 (M1296V)
Ref Sequence ENSEMBL: ENSMUSP00000113778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118100] [ENSMUST00000118340] [ENSMUST00000195708]
AlphaFold Q8CHG7
Predicted Effect probably benign
Transcript: ENSMUST00000118100
AA Change: M1298V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114119
Gene: ENSMUSG00000062232
AA Change: M1298V

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: M1296V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113778
Gene: ENSMUSG00000062232
AA Change: M1296V

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: M1446V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141542
Gene: ENSMUSG00000062232
AA Change: M1446V

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 0.0690 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,595,354 (GRCm39) M297K probably damaging Het
Ace A C 11: 105,866,134 (GRCm39) H34P probably benign Het
Agbl2 A T 2: 90,638,371 (GRCm39) N652I probably benign Het
Auh T A 13: 53,073,122 (GRCm39) L86F possibly damaging Het
Bmp10 A G 6: 87,411,302 (GRCm39) K365R probably damaging Het
Cacna1d A T 14: 29,764,314 (GRCm39) S2086T probably damaging Het
Calcoco1 C A 15: 102,626,374 (GRCm39) R105L possibly damaging Het
Casc3 T G 11: 98,719,385 (GRCm39) V509G probably damaging Het
Clmn A G 12: 104,748,131 (GRCm39) V472A probably benign Het
Cyp2b19 A T 7: 26,458,852 (GRCm39) S142C probably damaging Het
Derl3 T C 10: 75,729,335 (GRCm39) L26P probably damaging Het
Dgkh C T 14: 78,825,067 (GRCm39) A863T probably damaging Het
Dhx30 C T 9: 109,913,666 (GRCm39) R1127Q probably benign Het
Dmxl2 A G 9: 54,324,037 (GRCm39) S1116P probably damaging Het
Dnah7b T C 1: 46,328,805 (GRCm39) V3179A probably benign Het
Dnajb11 A T 16: 22,687,471 (GRCm39) N156I probably benign Het
Dpep1 A T 8: 123,927,394 (GRCm39) E316V probably damaging Het
Entrep1 A T 19: 23,962,193 (GRCm39) M270K probably benign Het
F2rl2 T A 13: 95,837,617 (GRCm39) F221I probably benign Het
Flg2 T A 3: 93,127,668 (GRCm39) D173E probably benign Het
Fshr A T 17: 89,293,414 (GRCm39) D421E probably damaging Het
Gfm2 T A 13: 97,309,131 (GRCm39) V612E probably benign Het
Gm17655 T G 5: 110,195,439 (GRCm39) K114N possibly damaging Het
Gm45844 C A 7: 7,281,183 (GRCm39) probably benign Het
Gpr142 A T 11: 114,697,203 (GRCm39) I250F probably damaging Het
Hexa A G 9: 59,470,519 (GRCm39) Q447R probably damaging Het
Leng8 T C 7: 4,148,568 (GRCm39) L780P probably benign Het
Lrrk1 T C 7: 65,911,881 (GRCm39) D1893G probably benign Het
Macf1 T A 4: 123,407,641 (GRCm39) I139F probably damaging Het
Megf10 A T 18: 57,313,621 (GRCm39) T22S probably benign Het
Mup-ps1 C A 4: 60,088,549 (GRCm39) noncoding transcript Het
Myh13 A T 11: 67,255,556 (GRCm39) E1642V probably damaging Het
Myof A G 19: 37,913,068 (GRCm39) Y1462H probably damaging Het
Nipbl T A 15: 8,353,748 (GRCm39) D1765V probably damaging Het
Npy5r A T 8: 67,134,675 (GRCm39) N39K possibly damaging Het
Or5m13b G A 2: 85,753,735 (GRCm39) G41D probably damaging Het
Pax6 A G 2: 105,514,247 (GRCm39) I29V probably damaging Het
Pi4ka A G 16: 17,178,436 (GRCm39) Y307H probably benign Het
Pmf1 A C 3: 88,303,358 (GRCm39) Y68D probably damaging Het
Psen2 C A 1: 180,073,292 (GRCm39) E10* probably null Het
Ptprs T A 17: 56,726,080 (GRCm39) M991L probably benign Het
R3hdm4 A G 10: 79,749,495 (GRCm39) V20A possibly damaging Het
Rad17 T C 13: 100,754,274 (GRCm39) N649D probably benign Het
Rad9b A T 5: 122,489,415 (GRCm39) C38S probably damaging Het
Rbp3 T C 14: 33,678,439 (GRCm39) S796P probably damaging Het
Rpl10-ps3 A G 9: 50,256,082 (GRCm39) S54P probably benign Het
Sclt1 T A 3: 41,581,612 (GRCm39) I688F probably damaging Het
Scn10a A G 9: 119,438,535 (GRCm39) I1778T probably damaging Het
Scrib C T 15: 75,939,021 (GRCm39) R159Q possibly damaging Het
Senp1 C T 15: 97,956,097 (GRCm39) E441K probably damaging Het
Sipa1l1 T A 12: 82,389,024 (GRCm39) F417I probably damaging Het
Slco1a7 A C 6: 141,684,764 (GRCm39) D230E probably benign Het
Smcr8 A G 11: 60,670,394 (GRCm39) D514G probably damaging Het
Tbc1d23 T G 16: 56,993,513 (GRCm39) D551A probably benign Het
Tet1 G T 10: 62,649,152 (GRCm39) T149N probably damaging Het
Them4 A T 3: 94,224,806 (GRCm39) D61V possibly damaging Het
Trak1 A T 9: 121,289,478 (GRCm39) I597F probably damaging Het
Trank1 A G 9: 111,206,864 (GRCm39) I1666V possibly damaging Het
Vipr2 A C 12: 116,106,604 (GRCm39) N378T probably damaging Het
Zfp804b T C 5: 6,821,231 (GRCm39) R575G probably benign Het
Zfp941 A T 7: 140,392,158 (GRCm39) C400* probably null Het
Zswim5 A C 4: 116,819,818 (GRCm39) S408R 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
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
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'- TGGCTTCCTCTGTAGTCACG -3'
(R):5'- TTTCCCATGACCAAGGGGAC -3'

Sequencing Primer
(F):5'- TCCTCTGTAGTCACGGGCAC -3'
(R):5'- GACCGTGCTTCCCTCGATG -3'
Posted On 2017-07-14