Incidental Mutation 'IGL03342:Rasgrf2'
ID 417245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasgrf2
Ensembl Gene ENSMUSG00000021708
Gene Name RAS protein-specific guanine nucleotide-releasing factor 2
Synonyms Grf2, 6330417G04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # IGL03342
Quality Score
Status
Chromosome 13
Chromosomal Location 92028519-92268164 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 92136098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 605 (V605F)
Ref Sequence ENSEMBL: ENSMUSP00000096930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099326]
AlphaFold P70392
Predicted Effect probably damaging
Transcript: ENSMUST00000099326
AA Change: V605F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096930
Gene: ENSMUSG00000021708
AA Change: V605F

DomainStartEndE-ValueType
PH 23 135 1.29e-16 SMART
IQ 204 226 1.3e0 SMART
RhoGEF 247 428 2.2e-51 SMART
RasGEFN 633 775 9.35e-15 SMART
RasGEFN 786 923 6.04e-9 SMART
RasGEF 949 1186 2.97e-112 SMART
Predicted Effect unknown
Transcript: ENSMUST00000142378
AA Change: V4F
SMART Domains Protein: ENSMUSP00000115401
Gene: ENSMUSG00000021708
AA Change: V4F

DomainStartEndE-ValueType
RasGEFN 33 175 9.35e-15 SMART
Blast:RasGEFN 187 249 8e-29 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000151408
AA Change: V4F
SMART Domains Protein: ENSMUSP00000116892
Gene: ENSMUSG00000021708
AA Change: V4F

DomainStartEndE-ValueType
RasGEFN 33 175 9.35e-15 SMART
RasGEFN 186 323 6.04e-9 SMART
RasGEF 349 586 2.97e-112 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit decreased Il2 and TNF-alpha production in stimulated T cells. Mice homozygous for mutations in both Rasgrf1 and Rasgrf2 exhibit no additional abnormalities than those observed in the Rasgrf1 mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,178,517 (GRCm39) T1152M possibly damaging Het
Abcg2 G T 6: 58,642,120 (GRCm39) R136I probably damaging Het
Acap2 A G 16: 30,924,310 (GRCm39) V641A probably damaging Het
Afg3l2 A T 18: 67,540,390 (GRCm39) D706E probably benign Het
Bbs1 A T 19: 4,947,621 (GRCm39) L311Q probably damaging Het
Cacna1e A G 1: 154,342,690 (GRCm39) probably null Het
Car2 A T 3: 14,960,629 (GRCm39) D129V probably benign Het
Catsper2 T C 2: 121,237,217 (GRCm39) I228V probably damaging Het
Cdhr3 C A 12: 33,101,054 (GRCm39) R452M probably benign Het
Chrm1 A T 19: 8,656,672 (GRCm39) Q459L probably benign Het
Cnbd1 C T 4: 19,098,264 (GRCm39) probably benign Het
Coa7 A G 4: 108,189,426 (GRCm39) D42G probably damaging Het
Ctsz T C 2: 174,270,933 (GRCm39) Y187C possibly damaging Het
Cxcr6 C T 9: 123,639,472 (GRCm39) Q165* probably null Het
Cyp3a11 G A 5: 145,791,927 (GRCm39) P489S probably damaging Het
Cyp4f15 A T 17: 32,916,910 (GRCm39) I276F probably damaging Het
Dsg1b T A 18: 20,542,517 (GRCm39) M1008K probably benign Het
Dsg4 T A 18: 20,584,880 (GRCm39) I198N probably damaging Het
Dtymk C A 1: 93,722,541 (GRCm39) E87D probably benign Het
Dysf T A 6: 84,167,854 (GRCm39) D1749E probably benign Het
Dzip3 G T 16: 48,749,986 (GRCm39) Q1050K probably damaging Het
Echs1 C T 7: 139,690,026 (GRCm39) probably benign Het
Enc1 T A 13: 97,382,978 (GRCm39) I496N possibly damaging Het
Epc2 A T 2: 49,426,658 (GRCm39) Y139F probably benign Het
Exo1 A T 1: 175,719,693 (GRCm39) N246I probably benign Het
Flg2 A G 3: 93,108,542 (GRCm39) K190R probably damaging Het
Gm5424 A T 10: 61,907,971 (GRCm39) noncoding transcript Het
Gpbp1l1 A C 4: 116,431,740 (GRCm39) T133P probably benign Het
Gpr155 A G 2: 73,180,022 (GRCm39) F146S probably damaging Het
Grm1 T A 10: 10,955,715 (GRCm39) I190L probably benign Het
Hif3a C T 7: 16,775,047 (GRCm39) R515H possibly damaging Het
Itprid2 G A 2: 79,490,796 (GRCm39) M971I probably damaging Het
Kdm5b G A 1: 134,530,314 (GRCm39) D442N probably benign Het
Manba A T 3: 135,223,748 (GRCm39) I212F possibly damaging Het
Map3k13 A G 16: 21,710,981 (GRCm39) E88G possibly damaging Het
Mapk7 A G 11: 61,382,216 (GRCm39) L163P probably damaging Het
Med1 A T 11: 98,080,006 (GRCm39) probably null Het
Mtrf1 T A 14: 79,653,312 (GRCm39) probably null Het
Mtrf1 A G 14: 79,653,420 (GRCm39) D365G possibly damaging Het
Mtrf1 C T 14: 79,653,311 (GRCm39) probably benign Het
Myadm C T 7: 3,345,403 (GRCm39) T55I possibly damaging Het
Nlgn1 A T 3: 26,187,411 (GRCm39) I158N probably damaging Het
Nlrc4 A G 17: 74,752,313 (GRCm39) L690P probably damaging Het
Nlrp1a A T 11: 71,013,617 (GRCm39) D544E probably benign Het
Nlrp2 A T 7: 5,320,482 (GRCm39) L20Q probably damaging Het
Or1e30 T A 11: 73,678,309 (GRCm39) S182T probably benign Het
Or8k21 A T 2: 86,145,579 (GRCm39) I17N possibly damaging Het
Or9i16 A G 19: 13,864,801 (GRCm39) Y258H probably damaging Het
Padi3 G A 4: 140,537,909 (GRCm39) Q4* probably null Het
Pfkl A T 10: 77,841,309 (GRCm39) I13K possibly damaging Het
Pinx1 A G 14: 64,157,018 (GRCm39) D315G probably benign Het
Prickle3 A G X: 7,529,735 (GRCm39) D47G probably benign Het
Psmd10 A T X: 139,857,403 (GRCm39) V5E probably damaging Het
Smarca1 G T X: 46,981,146 (GRCm39) A84D probably damaging Het
Sp2 A G 11: 96,852,588 (GRCm39) V112A probably damaging Het
Srgap3 G A 6: 112,752,648 (GRCm39) R279C probably damaging Het
Trav21-dv12 T C 14: 54,113,501 (GRCm39) L10P unknown Het
Vmn1r236 A T 17: 21,507,236 (GRCm39) H118L probably benign Het
Vmn2r120 A G 17: 57,816,372 (GRCm39) M661T probably benign Het
Vmn2r17 A T 5: 109,575,782 (GRCm39) I218F probably damaging Het
Vmn2r41 G T 7: 8,141,682 (GRCm39) A594D probably damaging Het
Zc2hc1a A G 3: 7,589,283 (GRCm39) E103G possibly damaging Het
Zfp62 G T 11: 49,106,298 (GRCm39) G130* probably null Het
Other mutations in Rasgrf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Rasgrf2 APN 13 92,159,425 (GRCm39) splice site probably benign
IGL01358:Rasgrf2 APN 13 92,130,749 (GRCm39) missense probably benign 0.23
IGL01666:Rasgrf2 APN 13 92,174,718 (GRCm39) missense probably damaging 1.00
IGL01930:Rasgrf2 APN 13 92,130,857 (GRCm39) missense probably damaging 0.98
IGL02230:Rasgrf2 APN 13 92,136,145 (GRCm39) missense probably damaging 1.00
IGL02630:Rasgrf2 APN 13 92,267,900 (GRCm39) missense probably damaging 1.00
IGL02690:Rasgrf2 APN 13 92,167,273 (GRCm39) missense probably damaging 1.00
IGL02943:Rasgrf2 APN 13 92,131,752 (GRCm39) missense probably damaging 1.00
IGL03067:Rasgrf2 APN 13 92,159,413 (GRCm39) missense probably damaging 0.97
IGL03405:Rasgrf2 APN 13 92,044,170 (GRCm39) missense probably damaging 1.00
R0620:Rasgrf2 UTSW 13 92,067,936 (GRCm39) splice site probably benign
R0632:Rasgrf2 UTSW 13 92,120,393 (GRCm39) missense probably benign 0.00
R0894:Rasgrf2 UTSW 13 92,130,890 (GRCm39) missense probably damaging 1.00
R1354:Rasgrf2 UTSW 13 92,165,174 (GRCm39) missense probably damaging 1.00
R1400:Rasgrf2 UTSW 13 92,035,808 (GRCm39) missense probably damaging 1.00
R1437:Rasgrf2 UTSW 13 92,167,396 (GRCm39) missense probably damaging 1.00
R1443:Rasgrf2 UTSW 13 92,131,795 (GRCm39) missense probably damaging 1.00
R1522:Rasgrf2 UTSW 13 92,044,205 (GRCm39) missense probably benign 0.00
R1553:Rasgrf2 UTSW 13 92,038,783 (GRCm39) missense probably damaging 1.00
R1613:Rasgrf2 UTSW 13 92,050,740 (GRCm39) missense probably damaging 1.00
R1883:Rasgrf2 UTSW 13 92,117,149 (GRCm39) missense probably benign
R1934:Rasgrf2 UTSW 13 92,131,825 (GRCm39) splice site probably null
R1990:Rasgrf2 UTSW 13 92,172,473 (GRCm39) missense probably damaging 1.00
R2037:Rasgrf2 UTSW 13 92,050,748 (GRCm39) missense probably damaging 0.99
R2043:Rasgrf2 UTSW 13 92,167,351 (GRCm39) missense possibly damaging 0.91
R2135:Rasgrf2 UTSW 13 92,120,374 (GRCm39) missense probably benign
R2193:Rasgrf2 UTSW 13 92,160,221 (GRCm39) splice site probably null
R2406:Rasgrf2 UTSW 13 92,120,359 (GRCm39) missense probably benign
R3055:Rasgrf2 UTSW 13 92,165,583 (GRCm39) missense probably damaging 1.00
R3916:Rasgrf2 UTSW 13 92,167,296 (GRCm39) missense probably damaging 1.00
R3954:Rasgrf2 UTSW 13 92,130,974 (GRCm39) missense probably damaging 0.98
R3955:Rasgrf2 UTSW 13 92,130,974 (GRCm39) missense probably damaging 0.98
R3956:Rasgrf2 UTSW 13 92,130,974 (GRCm39) missense probably damaging 0.98
R4133:Rasgrf2 UTSW 13 92,130,773 (GRCm39) missense possibly damaging 0.59
R4177:Rasgrf2 UTSW 13 92,038,717 (GRCm39) missense probably damaging 1.00
R4178:Rasgrf2 UTSW 13 92,038,717 (GRCm39) missense probably damaging 1.00
R4357:Rasgrf2 UTSW 13 92,038,796 (GRCm39) missense probably damaging 1.00
R4358:Rasgrf2 UTSW 13 92,038,796 (GRCm39) missense probably damaging 1.00
R4359:Rasgrf2 UTSW 13 92,038,796 (GRCm39) missense probably damaging 1.00
R4439:Rasgrf2 UTSW 13 92,131,797 (GRCm39) missense possibly damaging 0.95
R4440:Rasgrf2 UTSW 13 92,131,797 (GRCm39) missense possibly damaging 0.95
R4441:Rasgrf2 UTSW 13 92,131,797 (GRCm39) missense possibly damaging 0.95
R4564:Rasgrf2 UTSW 13 92,033,773 (GRCm39) nonsense probably null
R4576:Rasgrf2 UTSW 13 92,044,529 (GRCm39) missense possibly damaging 0.58
R4590:Rasgrf2 UTSW 13 92,174,789 (GRCm39) missense probably damaging 1.00
R4718:Rasgrf2 UTSW 13 92,138,716 (GRCm39) critical splice donor site probably null
R4778:Rasgrf2 UTSW 13 92,131,780 (GRCm39) missense probably damaging 0.99
R4790:Rasgrf2 UTSW 13 92,136,135 (GRCm39) missense probably damaging 1.00
R4808:Rasgrf2 UTSW 13 92,160,190 (GRCm39) missense probably damaging 1.00
R5151:Rasgrf2 UTSW 13 92,044,155 (GRCm39) missense probably damaging 1.00
R5286:Rasgrf2 UTSW 13 92,267,941 (GRCm39) missense possibly damaging 0.94
R5902:Rasgrf2 UTSW 13 92,068,011 (GRCm39) missense probably damaging 1.00
R6180:Rasgrf2 UTSW 13 92,165,609 (GRCm39) missense probably damaging 1.00
R6264:Rasgrf2 UTSW 13 92,167,293 (GRCm39) missense probably damaging 1.00
R6369:Rasgrf2 UTSW 13 92,267,954 (GRCm39) missense probably benign
R6428:Rasgrf2 UTSW 13 92,136,100 (GRCm39) missense probably damaging 1.00
R6595:Rasgrf2 UTSW 13 92,167,361 (GRCm39) missense probably damaging 1.00
R6619:Rasgrf2 UTSW 13 92,165,027 (GRCm39) missense probably damaging 1.00
R6988:Rasgrf2 UTSW 13 92,033,754 (GRCm39) missense probably benign 0.02
R7026:Rasgrf2 UTSW 13 92,131,732 (GRCm39) missense probably damaging 1.00
R7038:Rasgrf2 UTSW 13 92,130,952 (GRCm39) missense possibly damaging 0.95
R7045:Rasgrf2 UTSW 13 92,159,100 (GRCm39) intron probably benign
R7056:Rasgrf2 UTSW 13 92,167,203 (GRCm39) missense probably damaging 0.99
R7058:Rasgrf2 UTSW 13 92,034,521 (GRCm39) missense probably damaging 0.99
R7256:Rasgrf2 UTSW 13 92,032,637 (GRCm39) nonsense probably null
R7392:Rasgrf2 UTSW 13 92,041,856 (GRCm39) missense
R7469:Rasgrf2 UTSW 13 92,165,530 (GRCm39) critical splice donor site probably null
R7618:Rasgrf2 UTSW 13 92,136,085 (GRCm39) missense
R7641:Rasgrf2 UTSW 13 92,267,914 (GRCm39) missense possibly damaging 0.65
R7674:Rasgrf2 UTSW 13 92,267,914 (GRCm39) missense possibly damaging 0.65
R7784:Rasgrf2 UTSW 13 92,044,201 (GRCm39) missense
R7962:Rasgrf2 UTSW 13 92,167,300 (GRCm39) missense probably damaging 0.99
R8056:Rasgrf2 UTSW 13 92,167,321 (GRCm39) missense probably damaging 0.97
R8218:Rasgrf2 UTSW 13 92,130,796 (GRCm39) missense
R8796:Rasgrf2 UTSW 13 92,038,685 (GRCm39) missense
R8913:Rasgrf2 UTSW 13 92,159,034 (GRCm39) missense probably benign 0.05
R8971:Rasgrf2 UTSW 13 92,158,225 (GRCm39) missense possibly damaging 0.80
R9020:Rasgrf2 UTSW 13 92,165,146 (GRCm39) missense possibly damaging 0.93
R9487:Rasgrf2 UTSW 13 92,267,759 (GRCm39) missense probably benign
R9562:Rasgrf2 UTSW 13 92,034,469 (GRCm39) critical splice donor site probably null
R9712:Rasgrf2 UTSW 13 92,136,092 (GRCm39) missense
R9766:Rasgrf2 UTSW 13 92,160,188 (GRCm39) missense probably damaging 1.00
R9800:Rasgrf2 UTSW 13 92,267,860 (GRCm39) missense probably damaging 0.99
X0013:Rasgrf2 UTSW 13 92,167,363 (GRCm39) missense probably damaging 1.00
X0026:Rasgrf2 UTSW 13 92,050,654 (GRCm39) missense probably damaging 0.99
Z1177:Rasgrf2 UTSW 13 92,159,081 (GRCm39) missense unknown
Z1177:Rasgrf2 UTSW 13 92,131,632 (GRCm39) missense
Posted On 2016-08-02