Incidental Mutation 'IGL01868:Drgx'
ID 178592
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Drgx
Ensembl Gene ENSMUSG00000041730
Gene Name dorsal root ganglia homeobox
Synonyms Prrxl1, Drg11
Accession Numbers
Essential gene? Possibly essential (E-score: 0.519) question?
Stock # IGL01868
Quality Score
Status
Chromosome 14
Chromosomal Location 32321364-32371203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 32330334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 150 (F150L)
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: F150L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064107
Gene: ENSMUSG00000041730
AA Change: F150L

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: F150L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139756
Gene: ENSMUSG00000041730
AA Change: F150L

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: F150L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140687
Gene: ENSMUSG00000041730
AA Change: F150L

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: F150L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140337
Gene: ENSMUSG00000041730
AA Change: F150L

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: F150L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,547,218 (GRCm39) T569M possibly damaging Het
Aldh1l1 A T 6: 90,560,212 (GRCm39) K620* probably null Het
Amdhd2 G T 17: 24,376,504 (GRCm39) T346K probably damaging Het
Arhgap44 T C 11: 64,902,904 (GRCm39) D521G probably damaging Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Ccdc187 C A 2: 26,170,960 (GRCm39) R506L probably benign Het
Cd37 T C 7: 44,885,603 (GRCm39) Q128R probably benign Het
Cdh22 T A 2: 164,999,278 (GRCm39) M185L probably damaging Het
Cib2 A T 9: 54,455,759 (GRCm39) N68K probably damaging Het
Ddx46 C T 13: 55,787,683 (GRCm39) R96* probably null Het
Dnajc13 A T 9: 104,039,944 (GRCm39) H2050Q possibly damaging Het
Duox1 A G 2: 122,168,888 (GRCm39) H1172R probably benign Het
Eftud2 C T 11: 102,759,953 (GRCm39) V132I probably benign Het
Fcrl5 G A 3: 87,351,014 (GRCm39) D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Kat6a T C 8: 23,416,471 (GRCm39) F660L probably damaging Het
Lipo2 T C 19: 33,708,238 (GRCm39) M259V probably benign Het
Lrrcc1 T A 3: 14,619,417 (GRCm39) L90* probably null Het
Lsm1 G A 8: 26,283,821 (GRCm39) probably null Het
Luzp1 T C 4: 136,270,048 (GRCm39) I757T probably damaging Het
Micall1 A G 15: 78,999,260 (GRCm39) I76V probably benign Het
Mmp21 A T 7: 133,277,643 (GRCm39) D394E probably damaging Het
Mtfr1l T C 4: 134,258,018 (GRCm39) D68G probably null Het
Necab2 A G 8: 120,189,315 (GRCm39) S162G probably benign Het
Or11a4 A T 17: 37,536,043 (GRCm39) Q9L probably benign Het
Or4c100 T C 2: 88,356,059 (GRCm39) V44A possibly damaging Het
Or51b17 G A 7: 103,542,583 (GRCm39) R120* probably null Het
Or6n1 C T 1: 173,916,936 (GRCm39) T110I possibly damaging Het
Pde7b A T 10: 20,282,911 (GRCm39) C376* probably null Het
Pira12 G A 7: 3,900,174 (GRCm39) Q143* probably null Het
Plcb2 A G 2: 118,540,071 (GRCm39) L1074P probably damaging Het
Plcb2 G T 2: 118,541,868 (GRCm39) T914N probably benign Het
Prph C A 15: 98,954,224 (GRCm39) D207E probably damaging Het
Rbp4 C A 19: 38,112,968 (GRCm39) R37L probably damaging Het
Ryr3 T C 2: 112,633,503 (GRCm39) probably benign Het
Sardh T G 2: 27,117,159 (GRCm39) Q496P probably benign Het
Serpina1f T A 12: 103,659,704 (GRCm39) N193Y probably benign Het
Slc10a7 G A 8: 79,423,965 (GRCm39) probably null Het
Spg7 T C 8: 123,816,975 (GRCm39) probably null Het
Sphkap T C 1: 83,258,120 (GRCm39) probably null Het
Tas2r121 T A 6: 132,677,235 (GRCm39) I246L probably benign Het
Tbc1d9b T C 11: 50,052,460 (GRCm39) F889S probably damaging Het
Tcp10a T C 17: 7,597,263 (GRCm39) M140T possibly damaging Het
Tctn2 G A 5: 124,754,591 (GRCm39) noncoding transcript Het
Tfap2b G T 1: 19,284,506 (GRCm39) R138L probably damaging Het
Tnrc18 T C 5: 142,757,567 (GRCm39) T985A unknown Het
Treml1 G A 17: 48,673,035 (GRCm39) V211I probably benign Het
Ubr4 C T 4: 139,139,989 (GRCm39) Q1191* probably null Het
Vim G A 2: 13,583,249 (GRCm39) R217H possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r77 A G 7: 86,452,224 (GRCm39) D468G probably benign Het
Vmn2r98 G T 17: 19,286,548 (GRCm39) V349F probably benign Het
Vwa7 A T 17: 35,240,235 (GRCm39) E401V probably null Het
Zfp119b C A 17: 56,246,866 (GRCm39) V75L possibly damaging Het
Zfp287 C T 11: 62,606,083 (GRCm39) E275K probably benign Het
Other mutations in Drgx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Drgx APN 14 32,327,171 (GRCm39) splice site probably benign
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
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
Posted On 2014-05-07