Mutagenetix > Incidental Mutation

Incidental Mutation 'R6726:Dbx2'

529880

Institutional Source

Beutler Lab

Gene Symbol

Dbx2

Ensembl Gene

ENSMUSG00000045608

Gene Name

developing brain homeobox 2

Synonyms

LOC383001, 9430056A22Rik

MMRRC Submission

044844-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R6726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95521444-95552838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95522741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 322 (V322A)

Ref Sequence

ENSEMBL: ENSMUSP00000060424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054244]

AlphaFold

F8VQH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054244
AA Change: V322A

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000060424
Gene: ENSMUSG00000045608
AA Change: V322A

Domain	Start	End	E-Value	Type
low complexity region	43	56	N/A	INTRINSIC
low complexity region	108	125	N/A	INTRINSIC
HOX	226	288	3.11e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229611

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Arfgef2	T	A	2: 166,735,540 (GRCm39)		probably null	Het
Arsk	T	C	13: 76,222,907 (GRCm39)	Y230C	probably damaging	Het
Atf7ip	G	A	6: 136,559,389 (GRCm39)	V737M	probably damaging	Het
Atp6v1e1	A	T	6: 120,781,011 (GRCm39)		probably null	Het
Bbs9	T	C	9: 22,557,260 (GRCm39)	V3A	probably benign	Het
Brap	T	C	5: 121,813,365 (GRCm39)	S243P	probably damaging	Het
Camkmt	T	A	17: 85,702,037 (GRCm39)	I167N	probably damaging	Het
Ckap2l	C	A	2: 129,111,114 (GRCm39)	E694D	probably damaging	Het
Crmp1	G	A	5: 37,441,408 (GRCm39)	V497I	probably benign	Het
Dll1	C	A	17: 15,590,513 (GRCm39)	C401F	probably damaging	Het
Dock10	T	C	1: 80,490,147 (GRCm39)	T1991A	probably damaging	Het
Dock3	C	T	9: 107,036,651 (GRCm39)	W42*	probably null	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Hdac1-ps	A	G	17: 78,800,287 (GRCm39)	E426G	probably damaging	Het
Insrr	C	T	3: 87,720,873 (GRCm39)	R1044C	probably damaging	Het
Irs2	T	C	8: 11,054,961 (GRCm39)	N1157S	possibly damaging	Het
Kndc1	T	C	7: 139,502,667 (GRCm39)		probably null	Het
Map3k19	T	C	1: 127,748,185 (GRCm39)	N1241S	probably benign	Het
Or9g4b	T	C	2: 85,615,906 (GRCm39)	F17S	possibly damaging	Het
Paqr5	C	T	9: 61,871,065 (GRCm39)	R171Q	probably damaging	Het
Pcdh17	T	A	14: 84,683,657 (GRCm39)	D41E	probably damaging	Het
Plg	T	G	17: 12,597,595 (GRCm39)	L14R	probably damaging	Het
Prkab1	A	G	5: 116,158,092 (GRCm39)	V168A	probably benign	Het
Prr35	G	C	17: 26,166,689 (GRCm39)	P283A	probably benign	Het
Ptdss1	C	T	13: 67,101,595 (GRCm39)	R95*	probably null	Het
Rab3gap2	T	G	1: 184,980,062 (GRCm39)	S327A	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Homo
Sdr42e2	T	C	7: 120,425,332 (GRCm39)	S308P	probably damaging	Het
Senp8	C	A	9: 59,644,473 (GRCm39)	V228L	probably benign	Het
Serpina10	A	T	12: 103,594,628 (GRCm39)	I197K	probably benign	Het
Serpinb6d	A	G	13: 33,854,718 (GRCm39)	N231S	probably benign	Het
Sez6l2	T	C	7: 126,567,177 (GRCm39)	V869A	probably damaging	Het
Sgo2b	T	A	8: 64,380,769 (GRCm39)	K688*	probably null	Het
Sh3kbp1	A	T	X: 158,624,176 (GRCm39)	E39D	probably benign	Homo
Ufsp2	T	C	8: 46,438,504 (GRCm39)	M194T	probably benign	Het
Ush2a	T	C	1: 188,485,881 (GRCm39)	I2997T	possibly damaging	Het
Vmn2r107	G	A	17: 20,595,637 (GRCm39)	G730D	probably damaging	Het
Wdr72	T	C	9: 74,059,822 (GRCm39)	Y411H	possibly damaging	Het
Xirp2	T	C	2: 67,343,212 (GRCm39)	S1818P	possibly damaging	Het

Other mutations in Dbx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02245:Dbx2	APN	15	95,522,628 (GRCm39)	missense	probably damaging	1.00
IGL02747:Dbx2	APN	15	95,530,320 (GRCm39)	missense	probably benign	0.06
R0610:Dbx2	UTSW	15	95,522,778 (GRCm39)	missense	probably benign	0.01
R0646:Dbx2	UTSW	15	95,552,493 (GRCm39)	missense	possibly damaging	0.53
R1411:Dbx2	UTSW	15	95,530,262 (GRCm39)	missense	probably damaging	0.98
R1770:Dbx2	UTSW	15	95,522,615 (GRCm39)	missense	probably benign	0.11
R1978:Dbx2	UTSW	15	95,530,234 (GRCm39)	missense	probably damaging	0.99
R2118:Dbx2	UTSW	15	95,522,681 (GRCm39)	missense	probably damaging	1.00
R2349:Dbx2	UTSW	15	95,522,840 (GRCm39)	missense	probably benign	0.06
R3899:Dbx2	UTSW	15	95,530,313 (GRCm39)	missense	possibly damaging	0.81
R5368:Dbx2	UTSW	15	95,538,522 (GRCm39)	missense	probably benign	0.09
R5734:Dbx2	UTSW	15	95,552,604 (GRCm39)	missense	possibly damaging	0.53
R6843:Dbx2	UTSW	15	95,552,340 (GRCm39)	missense	possibly damaging	0.91
R7962:Dbx2	UTSW	15	95,552,199 (GRCm39)	missense	probably benign	0.36
R8490:Dbx2	UTSW	15	95,552,454 (GRCm39)	missense	possibly damaging	0.59
R8845:Dbx2	UTSW	15	95,552,517 (GRCm39)	missense	probably benign	0.01
R8865:Dbx2	UTSW	15	95,530,281 (GRCm39)	nonsense	probably null
R9069:Dbx2	UTSW	15	95,530,239 (GRCm39)	missense	probably damaging	1.00
R9525:Dbx2	UTSW	15	95,552,304 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TGTACACGGAGTATGTTCCCG -3'
(R):5'- TCAAGTGCTGTATGCGGAATAAGG -3'

Sequencing Primer
(F):5'- CACGGAGTATGTTCCCGTCAAATG -3'
(R):5'- TGCGGAATAAGGACTTCTTTCC -3'

Posted On

2018-08-01