Incidental Mutation 'R4944:Drgx'
ID 383368
Institutional Source Beutler Lab
Gene Symbol Drgx
Ensembl Gene ENSMUSG00000041730
Gene Name dorsal root ganglia homeobox
Synonyms Prrxl1, Drg11
MMRRC Submission 042541-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.519) question?
Stock # R4944 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 32321364-32371203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 32330206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 136 (Q136H)
Ref Sequence ENSEMBL: ENSMUSP00000154801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068938] [ENSMUST00000186452] [ENSMUST00000187377] [ENSMUST00000189022] [ENSMUST00000228878]
AlphaFold Q8BYH0
Predicted Effect possibly damaging
Transcript: ENSMUST00000068938
AA Change: Q136H

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064107
Gene: ENSMUSG00000041730
AA Change: Q136H

DomainStartEndE-ValueType
HOX 33 95 9.62e-29 SMART
low complexity region 111 122 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000186452
AA Change: Q136H

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139756
Gene: ENSMUSG00000041730
AA Change: Q136H

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 possibly damaging
Transcript: ENSMUST00000187377
AA Change: Q136H

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140687
Gene: ENSMUSG00000041730
AA Change: Q136H

DomainStartEndE-ValueType
HOX 33 95 9.62e-29 SMART
low complexity region 111 122 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000189022
AA Change: Q136H

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140337
Gene: ENSMUSG00000041730
AA Change: Q136H

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: Q136H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.1331 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 G A 5: 8,984,327 (GRCm39) probably null Het
Angptl7 C G 4: 148,584,534 (GRCm39) Q71H probably damaging Het
Arhgap30 A T 1: 171,229,822 (GRCm39) N176Y probably damaging Het
Armc9 T A 1: 86,202,256 (GRCm39) S805T probably damaging Het
Atxn1 T G 13: 45,720,407 (GRCm39) H496P probably damaging Het
Cabin1 C T 10: 75,557,197 (GRCm39) G1147D probably damaging Het
Cabin1 A G 10: 75,575,255 (GRCm39) S597P probably damaging Het
Catsperd T C 17: 56,969,744 (GRCm39) S613P probably damaging Het
Cdh2 A G 18: 16,783,466 (GRCm39) Y88H probably damaging Het
Cntn1 C A 15: 92,126,549 (GRCm39) P47Q probably damaging Het
Col11a2 T C 17: 34,261,164 (GRCm39) L38P possibly damaging Het
Col5a2 T G 1: 45,415,855 (GRCm39) I1431L possibly damaging Het
Csmd1 C T 8: 16,048,772 (GRCm39) G2310D probably damaging Het
Dhcr7 T A 7: 143,391,528 (GRCm39) I39N probably damaging Het
Dnajc13 C T 9: 104,044,586 (GRCm39) probably benign Het
Folr2 T C 7: 101,489,497 (GRCm39) probably null Het
Galnt11 T C 5: 25,470,336 (GRCm39) I595T probably damaging Het
Gp5 G A 16: 30,128,326 (GRCm39) A116V possibly damaging Het
Gpn3 T C 5: 122,520,303 (GRCm39) probably benign Het
Gprin3 T C 6: 59,331,644 (GRCm39) N221S probably benign Het
Hfm1 T C 5: 107,022,079 (GRCm39) E989G possibly damaging Het
Ints1 T C 5: 139,743,847 (GRCm39) probably null Het
Josd2 T C 7: 44,120,592 (GRCm39) S110P probably damaging Het
Kat14 C A 2: 144,217,873 (GRCm39) T123K probably damaging Het
Lamtor1 C T 7: 101,558,971 (GRCm39) T48I probably damaging Het
Lrrc24 A G 15: 76,602,546 (GRCm39) L113P probably damaging Het
Lrrc37 T C 11: 103,504,286 (GRCm39) T2561A possibly damaging Het
Mog T C 17: 37,331,433 (GRCm39) E89G probably damaging Het
Mon2 A G 10: 122,874,364 (GRCm39) probably null Het
Mtx1 T C 3: 89,121,205 (GRCm39) Y143C probably benign Het
Nacad T C 11: 6,548,507 (GRCm39) E1409G possibly damaging Het
Ndst3 T C 3: 123,400,676 (GRCm39) H410R probably damaging Het
Nkx6-2 T C 7: 139,161,486 (GRCm39) E233G possibly damaging Het
Oas1h A G 5: 121,000,846 (GRCm39) E152G probably damaging Het
Or8g22 A G 9: 38,958,158 (GRCm39) S186P probably damaging Het
Ovgp1 T C 3: 105,887,269 (GRCm39) F222L possibly damaging Het
Pkhd1 T C 1: 20,358,429 (GRCm39) S2716G probably null Het
Pla2g4e T C 2: 120,001,718 (GRCm39) T644A probably benign Het
Plxnd1 A G 6: 115,932,726 (GRCm39) I1918T probably damaging Het
Psmg1 A T 16: 95,790,812 (GRCm39) probably benign Het
Ptprd G A 4: 76,047,136 (GRCm39) R364C probably damaging Het
Rgs22 T C 15: 36,026,088 (GRCm39) I945V possibly damaging Het
Rgs7bp T C 13: 105,088,072 (GRCm39) N234S probably benign Het
Rrp7a T C 15: 83,004,010 (GRCm39) probably benign Het
Scg2 T A 1: 79,414,193 (GRCm39) R177* probably null Het
Sema4c C A 1: 36,589,392 (GRCm39) C578F probably damaging Het
Slc1a5 T A 7: 16,531,668 (GRCm39) probably benign Het
Slc5a3 A G 16: 91,875,571 (GRCm39) T543A possibly damaging Het
Slx4ip T A 2: 136,888,687 (GRCm39) F123I probably benign Het
Smtn C T 11: 3,472,916 (GRCm39) R737H probably damaging Het
Stox2 A G 8: 47,866,300 (GRCm39) I14T possibly damaging Het
Stradb T C 1: 59,019,599 (GRCm39) F43L probably benign Het
Szt2 T C 4: 118,245,866 (GRCm39) D1029G probably benign Het
Taar6 T C 10: 23,860,613 (GRCm39) Y311C probably damaging Het
Tcea3 A T 4: 135,995,404 (GRCm39) N249I probably damaging Het
Tecta A G 9: 42,241,573 (GRCm39) M2134T probably benign Het
Tg G A 15: 66,636,186 (GRCm39) G591D probably damaging Het
Tm4sf20 T A 1: 82,746,084 (GRCm39) I19F probably benign Het
Top2a T C 11: 98,888,676 (GRCm39) K1262E probably benign Het
Ube2r2 A G 4: 41,190,742 (GRCm39) probably benign Het
Usp29 T C 7: 6,964,927 (GRCm39) S257P possibly damaging Het
Usp40 T C 1: 87,880,077 (GRCm39) N1038S probably benign Het
Utp25 A T 1: 192,797,262 (GRCm39) M530K probably damaging Het
Vmn1r121 C T 7: 20,831,538 (GRCm39) E301K probably benign Het
Vmn2r49 T A 7: 9,722,959 (GRCm39) H105L probably benign Het
Zgrf1 C T 3: 127,355,517 (GRCm39) Q248* 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
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
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'- GAATCAGGTTTGGTTCCAGAAC -3'
(R):5'- TGCTCAGCAGAGACAACAGG -3'

Sequencing Primer
(F):5'- GTTCCAGAACCGAAGAGCCAAATG -3'
(R):5'- TACCTTTCAGAGATGCCACATGGG -3'
Posted On 2016-04-27