Incidental Mutation 'R5291:Rapgef2'
ID 405132
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 042874-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5291 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 78969823-79193824 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78977366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1327 (V1327E)
Ref Sequence ENSEMBL: ENSMUSP00000141542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118100] [ENSMUST00000118340] [ENSMUST00000195708]
AlphaFold Q8CHG7
Predicted Effect possibly damaging
Transcript: ENSMUST00000118100
AA Change: V1179E

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114119
Gene: ENSMUSG00000062232
AA Change: V1179E

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: V1177E

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113778
Gene: ENSMUSG00000062232
AA Change: V1177E

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 possibly damaging
Transcript: ENSMUST00000195708
AA Change: V1327E

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141542
Gene: ENSMUSG00000062232
AA Change: V1327E

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,823,394 (GRCm39) S328G probably damaging Het
Acot5 T G 12: 84,120,293 (GRCm39) L216R probably benign Het
Ankrd6 A G 4: 32,823,446 (GRCm39) L192P probably damaging Het
Atp6v1e1 C A 6: 120,795,294 (GRCm39) probably null Het
Bbs9 T C 9: 22,540,293 (GRCm39) Y358H probably damaging Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Camk2a A G 18: 61,090,236 (GRCm39) K192R probably damaging Het
Ceacam1 T A 7: 25,171,256 (GRCm39) R223W probably damaging Het
Cntn6 T A 6: 104,703,096 (GRCm39) F173I probably damaging Het
Cntrl A C 2: 35,024,072 (GRCm39) I33L probably damaging Het
Crybg2 T C 4: 133,800,738 (GRCm39) S633P probably benign Het
Cyp2j13 T C 4: 95,956,566 (GRCm39) H181R probably damaging Het
Dlgap1 A G 17: 71,025,205 (GRCm39) S542G probably benign Het
Dnm2 T G 9: 21,390,203 (GRCm39) L402R probably damaging Het
Fndc3b C A 3: 27,697,144 (GRCm39) V23L probably benign Het
Gata4 A C 14: 63,478,048 (GRCm39) F184V probably damaging Het
Gcnt2 A G 13: 41,072,268 (GRCm39) R304G probably damaging Het
Gm10563 TTTC TTTCCTTC 4: 155,698,969 (GRCm39) probably benign Het
Gm26558 G A 2: 70,491,873 (GRCm39) probably benign Het
Grip1 G A 10: 119,922,874 (GRCm39) V1107I probably benign Het
Herpud2 C T 9: 25,036,256 (GRCm39) G135S probably benign Het
Lrp1 A G 10: 127,429,747 (GRCm39) I441T probably damaging Het
Lrp1b T C 2: 40,793,015 (GRCm39) D2553G probably damaging Het
Mkln1 T A 6: 31,467,416 (GRCm39) N43K possibly damaging Het
Or4c12 A T 2: 89,773,780 (GRCm39) Y226* probably null Het
Or5k17 T C 16: 58,746,764 (GRCm39) T57A possibly damaging Het
Paxbp1 C T 16: 90,841,240 (GRCm39) M1I probably null Het
Phip A G 9: 82,827,936 (GRCm39) Y97H probably damaging Het
Plec T A 15: 76,058,211 (GRCm39) I3774F probably damaging Het
Pramel11 G T 4: 143,622,237 (GRCm39) P373T probably damaging Het
Prrc2c C A 1: 162,533,151 (GRCm39) probably benign Het
Prss12 T C 3: 123,299,112 (GRCm39) L628P probably damaging Het
Ptpre G A 7: 135,280,030 (GRCm39) V578I probably benign Het
Qsox2 A T 2: 26,107,710 (GRCm39) L261H probably damaging Het
Rnf216 A G 5: 143,075,967 (GRCm39) S306P probably benign Het
Rtel1 A G 2: 180,993,888 (GRCm39) Q640R possibly damaging Het
Ryr1 T A 7: 28,815,023 (GRCm39) D175V probably benign Het
Scarf1 T C 11: 75,414,900 (GRCm39) S525P probably damaging Het
Senp7 T A 16: 56,006,542 (GRCm39) Y982* probably null Het
Slc35b2 T C 17: 45,877,424 (GRCm39) Y184H probably damaging Het
Sned1 A G 1: 93,223,446 (GRCm39) K1375E possibly damaging Het
Spats2 G T 15: 99,076,422 (GRCm39) A167S probably benign Het
Spen C A 4: 141,215,390 (GRCm39) A481S unknown Het
Spred3 T A 7: 28,867,255 (GRCm39) H47L probably damaging Het
Srsf4 T A 4: 131,613,617 (GRCm39) probably benign Het
Tdrd3 A T 14: 87,743,234 (GRCm39) H394L probably benign Het
Terf1 A G 1: 15,889,310 (GRCm39) probably null Het
Txlnb A T 10: 17,675,144 (GRCm39) D99V possibly damaging Het
Ugt1a7c A T 1: 88,023,231 (GRCm39) N130I possibly damaging Het
Vmn2r50 T A 7: 9,781,752 (GRCm39) D331V probably damaging Het
Vps13d A G 4: 144,789,139 (GRCm39) I744T probably damaging Het
Ythdc1 A G 5: 86,983,547 (GRCm39) D664G probably damaging 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
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'- CTGGACTGTGTCTACTACTGCT -3'
(R):5'- ACCTTTCTCACTCAGGTTATGC -3'

Sequencing Primer
(F):5'- TTCCTCCAGAAGAAGGAAGGCC -3'
(R):5'- ACTCAGGTTATGCACTGGC -3'
Posted On 2016-07-22