Incidental Mutation 'RF040:Rragd'
ID604757
Institutional Source Beutler Lab
Gene Symbol Rragd
Ensembl Gene ENSMUSG00000028278
Gene NameRas-related GTP binding D
SynonymsD4Ertd174e, C030003H22Rik, 5730543C08Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #RF040 (G1)
Quality Score214.46
Status Not validated
Chromosome4
Chromosomal Location32983037-33022180 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) CATGCCTTTCATTCTA to C at 32995150 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029946] [ENSMUST00000084747] [ENSMUST00000098190]
Predicted Effect probably benign
Transcript: ENSMUST00000029946
SMART Domains Protein: ENSMUSP00000029946
Gene: ENSMUSG00000028278

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
Pfam:Arf 105 291 9.5e-9 PFAM
Pfam:SRPRB 114 220 1.2e-7 PFAM
Pfam:Gtr1_RagA 118 344 3.2e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084747
SMART Domains Protein: ENSMUSP00000081799
Gene: ENSMUSG00000028278

DomainStartEndE-ValueType
Pfam:Gtr1_RagA 24 169 1.5e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098190
SMART Domains Protein: ENSMUSP00000095792
Gene: ENSMUSG00000028278

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
Pfam:Arf 51 236 8.2e-9 PFAM
Pfam:SRPRB 59 166 9.5e-8 PFAM
Pfam:Gtr1_RagA 63 289 9.9e-75 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432K21Rik TG TGTCAGGGCAGCAGCAG 8: 84,167,575 probably benign Het
A030005L19Rik TGCTGTG TGCTGTGACAGCTGTG 1: 82,913,577 probably benign Het
A030005L19Rik G GTGGCTGCTC 1: 82,913,590 probably benign Het
Cacna1f CTGAATTGGTTCCCAGACCCGTGT CT X: 7,618,971 probably null Het
Calhm1 C CTGTGGCTGTGGA 19: 47,141,277 probably benign Het
Cdx1 CTGCTG CTGCTGATGCTG 18: 61,019,870 probably benign Het
Cyb5r4 ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA 9: 87,040,409 probably benign Het
Dbr1 GAGGAG GAGGAGTAGGAG 9: 99,583,697 probably null Het
Dnajc2 TAGTTG T 5: 21,757,697 probably null Het
Fam205c TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 probably benign Het
Fam71e1 C CGGGGTCAGAGGGAGGAAGGCTGGATCCTGGATACA 7: 44,500,521 probably null Het
Fam71e1 GGGAGGA GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA 7: 44,500,531 probably null Het
Fgd6 ATT A 10: 94,044,325 probably null Het
Flywch1 CTCCTGGTGT CTCCTGGTGTGGGGAGGCTACGTACTCACCCAGTCCTGGTGT 17: 23,762,169 probably null Het
Gab3 CTT CTTTTT X: 75,000,027 probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 142,240,817 probably benign Het
Gykl1 G A 18: 52,694,416 R232Q probably benign Het
Heatr3 TAT TATTGAT 8: 88,156,457 probably benign Het
Kmt2e TTT TTTTCTT 5: 23,478,509 probably benign Het
Luzp1 A AGGTGGCCTCTTCAGC 4: 136,543,196 probably benign Het
Mamld1 AACA AACAACA X: 71,118,814 probably benign Het
Mast4 CCTCGGGGACAAGCTGTGAGTTGGGGAAC CC 13: 102,739,241 probably benign Het
Med12l AGC AGCCGC 3: 59,275,967 probably benign Het
Med12l GCA GCATCA 3: 59,275,989 probably benign Het
Mn1 CAG CAGAAG 5: 111,419,705 probably benign Het
Morn4 GCAGTGAG GCAGTGAGTCAGTCAGTGAG 19: 42,076,111 probably null Het
Ncoa6 TGCAGC TGC 2: 155,421,731 probably benign Het
Nlrp3 GGGTA G 11: 59,558,552 probably null Het
Nolc1 AGCAGCAGC AGCAGCAGCCGCAGCAGC 19: 46,081,363 probably benign Het
Nusap1 TTAGCAGTGAGGAGCAAGCTGAGA TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA 2: 119,627,587 probably benign Het
Olfr418 GTGACATC G 1: 173,270,709 probably null Het
Olfr625-ps1 ACTTGCTGATATCTT ACTT 7: 103,682,938 probably null Het
Osmr TTCT TTCTTCT 15: 6,837,701 probably benign Het
Padi3 TCTCAC TC 4: 140,792,972 probably benign Het
Pdik1l AC ACCACCGC 4: 134,279,515 probably benign Het
Rpgrip1 AGGAAGAGG AG 14: 52,149,537 probably null Het
Ryr3 CTGA C 2: 112,910,524 probably benign Het
Sh3pxd2b CCTGTG CCTGTGTCTGTG 11: 32,423,055 probably benign Het
Slc39a4 TGTGGTC TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC 15: 76,614,866 probably benign Het
Smarca2 GC GCCCCACC 19: 26,631,022 probably benign Het
Sprr2b CAGTATGCTGTGAGCCTTGTCCTCCT C 3: 92,317,564 probably null Het
Sry GCTG GCTGGTGGTGGTGGTCATGGAACTG Y: 2,662,590 probably benign Het
Tcof1 CT CTATT 18: 60,828,408 probably benign Het
Tcof1 GC GCTGCTGAGATGGGCACTTTCCCAGAGATCCCCTTGTC 18: 60,833,583 probably benign Het
Tfeb GCA GCAACA 17: 47,786,097 probably benign Het
Tfeb CAG CAGGAG 17: 47,786,110 probably benign Het
Tfeb AGC AGCCGC 17: 47,786,111 probably benign Het
Tfeb GCA GCATCA 17: 47,786,112 probably benign Het
Tgoln1 T TCACCTCCCGTGGTCTTGCCAGAAG 6: 72,616,074 probably benign Het
Tmem59 TTTGTTT TTTGTTTGGTTGTTT 4: 107,190,526 probably benign Het
Trappc9 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 15: 72,801,292 probably benign Het
Triobp CAA CAACCCCAGGACTCCCTGTGCCCAACGGGGGAA 15: 78,967,063 probably benign Het
Xirp2 TT TTTAT 2: 67,525,544 probably benign Het
Zfhx3 CAGCA CAGCAACAGGAGCA 8: 108,956,101 probably benign Het
Other mutations in Rragd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Rragd APN 4 33007219 splice site probably benign
R0432:Rragd UTSW 4 33004332 missense probably damaging 0.98
R0542:Rragd UTSW 4 33007103 missense probably damaging 1.00
R1521:Rragd UTSW 4 32996005 missense probably damaging 0.96
R4090:Rragd UTSW 4 33007155 missense probably damaging 1.00
R4272:Rragd UTSW 4 32996099 critical splice donor site probably null
R4812:Rragd UTSW 4 33018766 missense probably benign 0.11
R4817:Rragd UTSW 4 32995072 missense probably benign
R6235:Rragd UTSW 4 32995985 missense possibly damaging 0.78
R7124:Rragd UTSW 4 32996027 missense possibly damaging 0.83
R7532:Rragd UTSW 4 33004166 missense possibly damaging 0.72
R7640:Rragd UTSW 4 32983527 missense probably benign 0.09
R8280:Rragd UTSW 4 32995112 missense probably benign
RF061:Rragd UTSW 4 32995150 intron probably benign
Z1177:Rragd UTSW 4 33005141 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGTCCTTGATTTCATTCAACTACC -3'
(R):5'- GGACAGATCTGCCCTCTTCATC -3'

Sequencing Primer
(F):5'- TGATTTCATTCAACTACCACAACAG -3'
(R):5'- AGATCTGCCCTCTTCATCTAGTAAG -3'
Posted On2019-12-04