Incidental Mutation 'R1395:Drgx'
ID 162830
Institutional Source Beutler Lab
Gene Symbol Drgx
Ensembl Gene ENSMUSG00000041730
Gene Name dorsal root ganglia homeobox
Synonyms Prrxl1, Drg11
MMRRC Submission 039457-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.519) question?
Stock # R1395 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 32321364-32371203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32330326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 148 (P148S)
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
AA Change: P148S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000064107
Gene: ENSMUSG00000041730
AA Change: P148S

DomainStartEndE-ValueType
HOX 33 95 9.62e-29 SMART
low complexity region 111 122 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186452
AA Change: P148S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000139756
Gene: ENSMUSG00000041730
AA Change: P148S

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
AA Change: P148S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140687
Gene: ENSMUSG00000041730
AA Change: P148S

DomainStartEndE-ValueType
HOX 33 95 9.62e-29 SMART
low complexity region 111 122 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189022
AA Change: P148S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140337
Gene: ENSMUSG00000041730
AA Change: P148S

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
AA Change: P148S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.0964 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency 99% (70/71)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A G 5: 113,249,362 (GRCm39) Y122H probably damaging Het
A330070K13Rik A G 5: 130,407,982 (GRCm39) probably benign Het
Abcc2 A G 19: 43,822,379 (GRCm39) R1406G probably benign Het
Adgrv1 G T 13: 81,534,907 (GRCm39) T5786K probably benign Het
Ankrd27 T C 7: 35,315,294 (GRCm39) F481S possibly damaging Het
Arhgap11a C T 2: 113,663,467 (GRCm39) V939I probably benign Het
Arhgap12 T C 18: 6,037,058 (GRCm39) N561S probably benign Het
Arhgef12 T C 9: 42,917,166 (GRCm39) H391R probably damaging Het
Asb3 T C 11: 31,051,032 (GRCm39) probably benign Het
C2cd5 T C 6: 143,007,464 (GRCm39) probably benign Het
Ccdc85a T C 11: 28,533,412 (GRCm39) K44R possibly damaging Het
Cep128 C T 12: 91,233,754 (GRCm39) R438Q probably benign Het
Cep192 A G 18: 67,991,992 (GRCm39) T1957A probably damaging Het
Col20a1 T A 2: 180,640,400 (GRCm39) V519E probably damaging Het
Cylc2 A G 4: 51,228,366 (GRCm39) K146E possibly damaging Het
Dst T C 1: 34,204,236 (GRCm39) probably null Het
Eef1a1 C T 9: 78,386,300 (GRCm39) V402I probably benign Het
Esyt3 T C 9: 99,198,835 (GRCm39) probably benign Het
Extl3 A G 14: 65,314,945 (GRCm39) V79A possibly damaging Het
Fat3 C T 9: 16,158,212 (GRCm39) V1133I probably benign Het
Fcgbp A G 7: 27,792,804 (GRCm39) H936R probably damaging Het
Fdxacb1 TAGAC T 9: 50,683,796 (GRCm39) probably null Het
Fryl T C 5: 73,230,255 (GRCm39) H1634R probably damaging Het
Gm44511 G A 6: 128,797,293 (GRCm39) S32L possibly damaging Het
Gm8374 G T 14: 18,537,058 (GRCm39) N55K probably benign Het
Gria1 T A 11: 57,174,392 (GRCm39) I558N probably damaging Het
Gse1 G T 8: 121,301,738 (GRCm39) probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hectd4 T C 5: 121,466,576 (GRCm39) probably null Het
Herc1 T C 9: 66,346,463 (GRCm39) I1943T probably benign Het
Ift172 T C 5: 31,442,582 (GRCm39) probably benign Het
Ift81 G T 5: 122,706,986 (GRCm39) D485E probably benign Het
Lactb T C 9: 66,878,661 (GRCm39) probably benign Het
Map1a C T 2: 121,134,406 (GRCm39) H1741Y probably benign Het
Map1lc3b T C 8: 122,323,459 (GRCm39) Y110H probably benign Het
Mlh1 T C 9: 111,076,445 (GRCm39) D304G probably damaging Het
Myo1f A G 17: 33,802,714 (GRCm39) D386G probably damaging Het
Ncoa4 T A 14: 31,894,798 (GRCm39) probably null Het
Neto1 T C 18: 86,416,144 (GRCm39) probably benign Het
Nf1 T C 11: 79,426,809 (GRCm39) V1741A possibly damaging Het
Nkain2 C A 10: 32,766,185 (GRCm39) probably benign Het
Obsl1 T C 1: 75,469,309 (GRCm39) S109G probably damaging Het
Or51ah3 T C 7: 103,210,326 (GRCm39) L214P possibly damaging Het
Or51f23 G A 7: 102,453,414 (GRCm39) C243Y possibly damaging Het
Or6z6 T A 7: 6,491,361 (GRCm39) T171S probably damaging Het
Or9s13 T A 1: 92,548,267 (GRCm39) I213N probably benign Het
Phlpp1 T C 1: 106,278,348 (GRCm39) V920A possibly damaging Het
Psen1 G A 12: 83,771,346 (GRCm39) G209R probably damaging Het
Ralgapa2 T G 2: 146,230,420 (GRCm39) K963N probably damaging Het
Rdh12 A G 12: 79,255,839 (GRCm39) T9A probably benign Het
Rgma G T 7: 73,067,542 (GRCm39) A360S probably benign Het
Sag G A 1: 87,756,163 (GRCm39) V257I probably benign Het
Scaf1 T C 7: 44,657,721 (GRCm39) E386G probably damaging Het
Slc4a10 A G 2: 62,143,630 (GRCm39) E1055G probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Spata31e5 T C 1: 28,815,890 (GRCm39) E714G possibly damaging Het
Spata46 A G 1: 170,139,573 (GRCm39) T191A probably benign Het
Tgm2 T A 2: 157,966,172 (GRCm39) H494L probably benign Het
Tub C T 7: 108,620,161 (GRCm39) R102* probably null Het
Ugt3a1 T G 15: 9,306,378 (GRCm39) L176V possibly damaging Het
Vmn2r15 T A 5: 109,442,014 (GRCm39) I140L probably benign Het
Wdr44 T G X: 23,662,298 (GRCm39) C645G probably damaging Het
Wdr87-ps T A 7: 29,230,812 (GRCm39) noncoding transcript Het
Zfp322a C T 13: 23,540,945 (GRCm39) V266I probably benign Het
Zfp663 T C 2: 165,194,492 (GRCm39) R576G probably damaging 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
R1574:Drgx UTSW 14 32,327,281 (GRCm39) splice site probably benign
R2093:Drgx UTSW 14 32,369,112 (GRCm39) intron probably benign
R3700:Drgx UTSW 14 32,350,818 (GRCm39) missense probably damaging 1.00
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 PCR Primer
(F):5'- GCCAGTGAGGAACATCAACTCTCC -3'
(R):5'- GGGCTGCCTCTAAGAAAAGCTCTG -3'

Sequencing Primer
(F):5'- TCAACTCTCCACCCCCAGG -3'
(R):5'- CCTCTAAGAAAAGCTCTGGGTTG -3'
Posted On 2014-03-17