Mutagenetix > Incidental Mutation

Incidental Mutation 'R2093:Drgx'

231938

Institutional Source

Beutler Lab

Gene Symbol

Drgx

Ensembl Gene

ENSMUSG00000041730

Gene Name

dorsal root ganglia homeobox

Synonyms

Prrxl1, Drg11

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.601) question?

Stock #

R2093 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32321364-32371203 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 32369112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068938] [ENSMUST00000187377] [ENSMUST00000228878]

AlphaFold

Q8BYH0

Predicted Effect

unknown
Transcript: ENSMUST00000068938
AA Change: A214V

SMART Domains

Protein: ENSMUSP00000064107
Gene: ENSMUSG00000041730
AA Change: A214V

Domain	Start	End	E-Value	Type
HOX	33	95	9.62e-29	SMART
low complexity region	111	122	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000187377
AA Change: A214V

SMART Domains

Protein: ENSMUSP00000140687
Gene: ENSMUSG00000041730
AA Change: A214V

Domain	Start	End	E-Value	Type
HOX	33	95	9.62e-29	SMART
low complexity region	111	122	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000228878

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,671,041 (GRCm39)	D421G	probably benign	Het
Adamts1	T	G	16: 85,599,333 (GRCm39)	Q89P	probably benign	Het
Arhgef10l	T	G	4: 140,297,601 (GRCm39)	N277T	possibly damaging	Het
Atp2c1	G	A	9: 105,295,320 (GRCm39)	R669*	probably null	Het
Brip1	T	C	11: 86,029,971 (GRCm39)	T558A	possibly damaging	Het
Cbr2	G	A	11: 120,621,255 (GRCm39)	T148I	probably benign	Het
Ccdc110	C	A	8: 46,395,114 (GRCm39)	T335K	probably damaging	Het
Cd44	T	G	2: 102,644,629 (GRCm39)	D731A	probably damaging	Het
Cnot1	T	C	8: 96,501,986 (GRCm39)	D44G	probably damaging	Het
Cnrip1	T	C	11: 17,002,237 (GRCm39)	V23A	probably damaging	Het
Cntnap5c	A	T	17: 58,505,995 (GRCm39)	H673L	probably benign	Het
Col3a1	C	T	1: 45,372,150 (GRCm39)	A493V	probably damaging	Het
Crem	A	T	18: 3,299,256 (GRCm39)	V19E	probably damaging	Het
Cyp2g1	A	G	7: 26,518,858 (GRCm39)	D418G	probably benign	Het
Dmrta1	A	T	4: 89,579,742 (GRCm39)	H234L	probably benign	Het
Drc3	C	T	11: 60,261,310 (GRCm39)	R154W	probably damaging	Het
Eef1d	A	G	15: 75,774,550 (GRCm39)	S370P	probably benign	Het
Fdx2	T	C	9: 20,984,720 (GRCm39)	H28R	probably benign	Het
Fmo5	A	G	3: 97,553,194 (GRCm39)	I381V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fras1	T	C	5: 96,929,062 (GRCm39)	L3822P	probably damaging	Het
Gm3604	G	T	13: 62,517,420 (GRCm39)	H313N	possibly damaging	Het
Heatr4	T	C	12: 84,021,855 (GRCm39)	E460G	possibly damaging	Het
Ino80	T	A	2: 119,257,151 (GRCm39)	H834L	possibly damaging	Het
Insr	A	T	8: 3,254,762 (GRCm39)	C331S	probably damaging	Het
Itih4	C	T	14: 30,613,694 (GRCm39)	L304F	probably damaging	Het
Klhdc3	C	T	17: 46,988,879 (GRCm39)	V104I	probably benign	Het
Lrp2	C	T	2: 69,366,365 (GRCm39)	D245N	probably benign	Het
Map1b	T	C	13: 99,566,178 (GRCm39)	E2181G	unknown	Het
Map2	T	C	1: 66,438,599 (GRCm39)	V41A	probably damaging	Het
Mical3	A	T	6: 121,017,347 (GRCm39)	H156Q	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Myo5b	T	A	18: 74,892,263 (GRCm39)	L1669Q	probably damaging	Het
Nme8	G	A	13: 19,835,042 (GRCm39)	S548F	probably damaging	Het
Npas1	A	T	7: 16,193,202 (GRCm39)	N408K	probably benign	Het
Or1j11	A	T	2: 36,311,941 (GRCm39)	Y177F	probably benign	Het
Or8k30	A	C	2: 86,339,587 (GRCm39)	Q261H	probably damaging	Het
Pcnx4	T	C	12: 72,626,216 (GRCm39)	Y1141H	probably damaging	Het
Pmaip1	C	A	18: 66,594,052 (GRCm39)	P64Q	probably damaging	Het
Ranbp3	T	A	17: 57,017,145 (GRCm39)	M387K	probably damaging	Het
Rbm4	A	G	19: 4,837,792 (GRCm39)	Y231H	probably damaging	Het
Rpgrip1l	T	C	8: 91,996,760 (GRCm39)	S105G	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rtn3	A	T	19: 7,434,215 (GRCm39)	D573E	probably damaging	Het
Rxrg	T	C	1: 167,454,893 (GRCm39)	C159R	probably damaging	Het
Sdk2	T	C	11: 113,833,948 (GRCm39)	Y78C	probably damaging	Het
Smu1	A	G	4: 40,738,438 (GRCm39)	V432A	probably benign	Het
Spag1	T	C	15: 36,224,276 (GRCm39)	L609P	probably damaging	Het
Spata21	T	G	4: 140,824,277 (GRCm39)	V180G	probably benign	Het
Spata31e2	G	T	1: 26,721,222 (GRCm39)	Y1319*	probably null	Het
Sptlc3	A	T	2: 139,467,794 (GRCm39)	I451F	possibly damaging	Het
Srl	A	G	16: 4,340,896 (GRCm39)	C8R	unknown	Het
Tmprss13	A	G	9: 45,256,340 (GRCm39)	R485G	probably damaging	Het
Trpv4	C	T	5: 114,773,565 (GRCm39)	A266T	probably damaging	Het
Vmn1r198	A	G	13: 22,538,855 (GRCm39)	T25A	probably benign	Het
Vmn2r77	T	C	7: 86,450,702 (GRCm39)	V196A	probably benign	Het
Vmn2r82	C	T	10: 79,231,813 (GRCm39)	T604I	probably benign	Het
Zfp268	C	A	4: 145,349,139 (GRCm39)	T192N	probably benign	Het
Zfp354a	C	T	11: 50,960,551 (GRCm39)	T254I	probably damaging	Het

Other mutations in Drgx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CTGTGTCTCTATGACCCGTTGG -3'
(R):5'- AGTTTCCAGGGATCTGCATC -3'

Sequencing Primer
(F):5'- CTCACTAGGGTTTGGCTGAATTAAC -3'
(R):5'- ACCCGGAAGACCTCCTG -3'

Posted On

2014-09-18