Incidental Mutation 'R3700:Drgx'
ID 473271
Institutional Source Beutler Lab
Gene Symbol Drgx
Ensembl Gene ENSMUSG00000041730
Gene Name dorsal root ganglia homeobox
Synonyms Prrxl1, Drg11
MMRRC Submission 040693-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.601) question?
Stock # R3700 (G1)
Quality Score 199
Status Not validated
Chromosome 14
Chromosomal Location 32321364-32371203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32350818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 218 (E218V)
Ref Sequence ENSEMBL: ENSMUSP00000140337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068938] [ENSMUST00000186452] [ENSMUST00000187377] [ENSMUST00000189022] [ENSMUST00000228878]
AlphaFold Q8BYH0
Predicted Effect probably benign
Transcript: ENSMUST00000068938
SMART Domains Protein: ENSMUSP00000064107
Gene: ENSMUSG00000041730

DomainStartEndE-ValueType
HOX 33 95 9.62e-29 SMART
low complexity region 111 122 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186452
AA Change: E218V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139756
Gene: ENSMUSG00000041730
AA Change: E218V

DomainStartEndE-ValueType
HOX 33 95 9.62e-29 SMART
low complexity region 111 122 N/A INTRINSIC
Pfam:OAR 199 219 4.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187377
SMART Domains Protein: ENSMUSP00000140687
Gene: ENSMUSG00000041730

DomainStartEndE-ValueType
HOX 33 95 9.62e-29 SMART
low complexity region 111 122 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189022
AA Change: E218V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140337
Gene: ENSMUSG00000041730
AA Change: E218V

DomainStartEndE-ValueType
HOX 33 95 9.62e-29 SMART
low complexity region 111 122 N/A INTRINSIC
Pfam:OAR 199 219 4.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228878
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 98% (51/52)
MGI Phenotype PHENOTYPE: Homozygous null mice had delayed projection of sensory afferent neurons in the dorsal, but not the ventral, spinal cord during embryonic development. This delayed development resulted in abnormal responses to noxious stimuli in adults, but normal locomotion and sensory motor function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 G A 18: 65,438,222 (GRCm39) T1524I probably damaging Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Arhgap26 T A 18: 39,253,237 (GRCm39) F221L probably damaging Het
Arhgap28 T C 17: 68,208,361 (GRCm39) S36G probably damaging Het
Bcl11a A G 11: 24,113,890 (GRCm39) D411G probably damaging Het
Cdh23 C A 10: 60,163,149 (GRCm39) probably null Het
Cnnm2 T A 19: 46,750,990 (GRCm39) I260N probably damaging Het
Coro6 T C 11: 77,358,129 (GRCm39) F238S probably damaging Het
Ddah1 G A 3: 145,597,250 (GRCm39) M162I probably benign Het
Dnah5 T C 15: 28,387,937 (GRCm39) I3132T possibly damaging Het
Dync2i1 C T 12: 116,175,462 (GRCm39) W905* probably null Het
Eif3f A T 7: 108,539,482 (GRCm39) I251F probably benign Het
Ephx4 T C 5: 107,550,673 (GRCm39) F11L probably benign Het
Esp1 T C 17: 41,041,998 (GRCm39) S97P unknown Het
Fbxw10 A T 11: 62,759,983 (GRCm39) probably null Het
Hsp90ab1 T C 17: 45,882,440 (GRCm39) T85A possibly damaging Het
Idh2 T C 7: 79,748,895 (GRCm39) K129E probably damaging Het
Kcnj6 A G 16: 94,633,865 (GRCm39) I64T probably damaging Het
Klk1b5 T A 7: 43,500,251 (GRCm39) C280S probably damaging Het
Lhx2 T A 2: 38,250,111 (GRCm39) L269H probably damaging Het
Lrrc71 T A 3: 87,653,185 (GRCm39) probably null Het
Lss T A 10: 76,382,026 (GRCm39) L484Q probably damaging Het
Mmp14 G A 14: 54,669,389 (GRCm39) probably benign Het
Muc5b A G 7: 141,400,986 (GRCm39) T534A unknown Het
Mysm1 T C 4: 94,858,889 (GRCm39) K87E probably benign Het
Or6d13 T A 6: 116,517,489 (GRCm39) V25E probably benign Het
Or6f2 C G 7: 139,756,127 (GRCm39) F37L possibly damaging Het
Pcolce T C 5: 137,607,309 (GRCm39) T61A probably damaging Het
Phc3 C A 3: 30,968,277 (GRCm39) D920Y probably damaging Het
Pi4kb T C 3: 94,901,599 (GRCm39) I422T probably benign Het
Piezo1 C T 8: 123,221,642 (GRCm39) R584H probably damaging Het
Plce1 T A 19: 38,693,781 (GRCm39) F768Y probably damaging Het
Ppp1r21 T C 17: 88,889,882 (GRCm39) S709P possibly damaging Het
Prdx6 T C 1: 161,074,858 (GRCm39) D74G probably damaging Het
Rlf A G 4: 121,008,060 (GRCm39) F307L possibly damaging Het
Skic2 T C 17: 35,068,879 (GRCm39) E40G probably benign Het
Snapin G A 3: 90,397,499 (GRCm39) R91* probably null Het
Sort1 T A 3: 108,263,955 (GRCm39) L838* probably null Het
Sstr4 A G 2: 148,238,273 (GRCm39) I295V possibly damaging Het
Stk39 T A 2: 68,222,462 (GRCm39) I201F probably damaging Het
Tasp1 T C 2: 139,752,474 (GRCm39) T322A probably benign Het
Tepsin C T 11: 119,982,579 (GRCm39) C491Y possibly damaging Het
Tlr9 G A 9: 106,101,278 (GRCm39) V190M probably damaging Het
Ttf2 A G 3: 100,858,324 (GRCm39) L755P probably damaging Het
Txn2 G A 15: 77,811,976 (GRCm39) T60M possibly damaging Het
Vmn1r10 A G 6: 57,091,287 (GRCm39) N293S probably benign Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn2r111 C T 17: 22,790,142 (GRCm39) W288* probably null Het
Vmn2r118 T C 17: 55,915,421 (GRCm39) S510G possibly damaging Het
Zgpat T A 2: 181,007,439 (GRCm39) probably benign Het
Zzef1 G T 11: 72,777,598 (GRCm39) G1810C probably null Het
Other mutations in Drgx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Drgx APN 14 32,327,171 (GRCm39) splice site probably benign
IGL01868:Drgx APN 14 32,330,334 (GRCm39) missense probably damaging 0.99
R0436:Drgx UTSW 14 32,330,040 (GRCm39) missense probably damaging 1.00
R1395:Drgx UTSW 14 32,330,326 (GRCm39) missense probably benign 0.05
R1574:Drgx UTSW 14 32,327,281 (GRCm39) splice site probably benign
R2093:Drgx UTSW 14 32,369,112 (GRCm39) intron probably benign
R4922:Drgx UTSW 14 32,330,363 (GRCm39) missense probably damaging 1.00
R4944:Drgx UTSW 14 32,330,206 (GRCm39) missense probably damaging 1.00
R4962:Drgx UTSW 14 32,369,101 (GRCm39) intron probably benign
R5512:Drgx UTSW 14 32,322,001 (GRCm39) missense probably damaging 0.99
R5989:Drgx UTSW 14 32,330,145 (GRCm39) missense probably benign 0.01
R7423:Drgx UTSW 14 32,350,778 (GRCm39) missense probably damaging 1.00
R7790:Drgx UTSW 14 32,350,845 (GRCm39) missense probably damaging 1.00
R9171:Drgx UTSW 14 32,330,339 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-04-14