Incidental Mutation 'R0436:Drgx'
ID 39026
Institutional Source Beutler Lab
Gene Symbol Drgx
Ensembl Gene ENSMUSG00000041730
Gene Name dorsal root ganglia homeobox
Synonyms Prrxl1, Drg11
MMRRC Submission 038637-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.519) question?
Stock # R0436 (G1)
Quality Score 171
Status Validated
Chromosome 14
Chromosomal Location 32321364-32371203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32330040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 81 (F81S)
Ref Sequence ENSEMBL: ENSMUSP00000140337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068938] [ENSMUST00000186452] [ENSMUST00000187377] [ENSMUST00000189022] [ENSMUST00000228878]
AlphaFold Q8BYH0
Predicted Effect probably damaging
Transcript: ENSMUST00000068938
AA Change: F81S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064107
Gene: ENSMUSG00000041730
AA Change: F81S

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: F81S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139756
Gene: ENSMUSG00000041730
AA Change: F81S

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 damaging
Transcript: ENSMUST00000187377
AA Change: F81S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140687
Gene: ENSMUSG00000041730
AA Change: F81S

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: F81S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140337
Gene: ENSMUSG00000041730
AA Change: F81S

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 damaging
Transcript: ENSMUST00000228878
AA Change: F81S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.9130 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.4%
Validation Efficiency 100% (66/66)
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
4933430I17Rik T C 4: 62,461,682 (GRCm39) probably benign Het
Abcb10 C T 8: 124,697,740 (GRCm39) G195S probably benign Het
Adrb2 A G 18: 62,312,624 (GRCm39) V67A possibly damaging Het
Alx4 A T 2: 93,498,702 (GRCm39) K145* probably null Het
Arl8a G A 1: 135,074,718 (GRCm39) M1I probably null Het
Btbd16 G A 7: 130,387,783 (GRCm39) S134N probably benign Het
Ccdc136 T A 6: 29,414,933 (GRCm39) L474Q probably damaging Het
Cebpz A G 17: 79,243,079 (GRCm39) Y192H probably benign Het
Cep95 A G 11: 106,709,511 (GRCm39) Q109R probably null Het
Cfap54 G T 10: 92,874,837 (GRCm39) Q520K possibly damaging Het
Cog2 C T 8: 125,275,253 (GRCm39) probably benign Het
Cul1 A G 6: 47,500,707 (GRCm39) N702S probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dmxl2 T C 9: 54,291,034 (GRCm39) D2472G probably damaging Het
Ect2 A G 3: 27,204,244 (GRCm39) F22L probably benign Het
Ehd4 A T 2: 119,932,822 (GRCm39) D201E probably damaging Het
Eif4ebp3 A G 18: 36,797,354 (GRCm39) probably null Het
Exd2 T C 12: 80,537,544 (GRCm39) probably benign Het
Gtf2a1 A C 12: 91,535,047 (GRCm39) probably null Het
H2-DMb1 A G 17: 34,378,630 (GRCm39) Y256C probably damaging Het
Haus6 T C 4: 86,504,044 (GRCm39) R527G probably benign Het
Helb C T 10: 119,930,117 (GRCm39) probably benign Het
Hhatl C T 9: 121,617,828 (GRCm39) A254T probably benign Het
Hk1 A T 10: 62,135,054 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,295,624 (GRCm39) K2611R probably damaging Het
Hrc A G 7: 44,985,557 (GRCm39) H236R possibly damaging Het
Hunk T A 16: 90,261,042 (GRCm39) Y178N probably damaging Het
Iftap T C 2: 101,440,864 (GRCm39) probably benign Het
Jakmip2 G A 18: 43,691,234 (GRCm39) Q616* probably null Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Msantd4 C T 9: 4,385,180 (GRCm39) R302C probably damaging Het
Nae1 T C 8: 105,249,868 (GRCm39) probably benign Het
Nek4 C T 14: 30,692,429 (GRCm39) L293F probably damaging Het
Odf2l C T 3: 144,831,877 (GRCm39) T44I possibly damaging Het
Or52s19 A G 7: 103,007,948 (GRCm39) V151A possibly damaging Het
Otog G A 7: 45,915,360 (GRCm39) probably benign Het
Ppp1r21 C T 17: 88,873,117 (GRCm39) T425I possibly damaging Het
Prrc2b A G 2: 32,120,672 (GRCm39) E2204G probably damaging Het
Prrc2c A C 1: 162,532,883 (GRCm39) probably benign Het
Ptgs2 T C 1: 149,980,028 (GRCm39) probably benign Het
Slc12a8 T A 16: 33,371,455 (GRCm39) V197E probably damaging Het
Syne3 A G 12: 104,913,183 (GRCm39) W593R possibly damaging Het
Tmem63a A T 1: 180,800,298 (GRCm39) T696S probably benign Het
Tnks2 A G 19: 36,826,758 (GRCm39) D165G possibly damaging Het
Trim43a T C 9: 88,470,240 (GRCm39) W349R probably damaging Het
Unc45b T C 11: 82,820,393 (GRCm39) probably benign Het
Vmn1r4 T A 6: 56,933,947 (GRCm39) N150K probably damaging Het
Wdfy4 C A 14: 32,805,769 (GRCm39) probably benign Het
Wdr77 T A 3: 105,867,342 (GRCm39) D63E probably damaging Het
Zan T C 5: 137,463,164 (GRCm39) T672A unknown Het
Zdhhc17 A T 10: 110,817,851 (GRCm39) 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
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
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'- ACGATCCTGCTGGGAAAACTTCAC -3'
(R):5'- AGGTTCAGCCTGTCTACAGAGCTAC -3'

Sequencing Primer
(F):5'- GCAAAGTGGTAGATGCTTTCC -3'
(R):5'- GGAGTCAGCTAATCTTACCTCTG -3'
Posted On 2013-05-23