Mutagenetix > Incidental Mutation

Incidental Mutation 'R0294:Dmrt2'

26321

Institutional Source

Beutler Lab

Gene Symbol

Dmrt2

Ensembl Gene

ENSMUSG00000048138

Gene Name

doublesex and mab-3 related transcription factor 2

Synonyms

Terra

MMRRC Submission

038511-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0294 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25649775-25656355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25655435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 345 (P345S)

Ref Sequence

ENSEMBL: ENSMUSP00000059654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053068]

AlphaFold

Q8BG36

Predicted Effect

probably damaging
Transcript: ENSMUST00000053068
AA Change: P345S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059654
Gene: ENSMUSG00000048138
AA Change: P345S

Domain	Start	End	E-Value	Type
low complexity region	38	74	N/A	INTRINSIC
low complexity region	78	115	N/A	INTRINSIC
DM	119	172	5.2e-28	SMART
low complexity region	224	229	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display perinatal lethality due to breathing difficulties, multiple axial skeletal defects including kinked tails and rib and vertebral malformations, and abnormal somite organization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930527J03Rik	ACCC	ACC	1: 178,276,503 (GRCm38)		noncoding transcript	Het
Aadat	A	G	8: 60,987,642 (GRCm39)	E319G	possibly damaging	Het
Abca13	A	G	11: 9,219,122 (GRCm39)		probably null	Het
Actl7b	A	T	4: 56,740,848 (GRCm39)	L170Q	possibly damaging	Het
Adam29	C	A	8: 56,326,311 (GRCm39)	V48L	probably benign	Het
Aknad1	A	G	3: 108,682,508 (GRCm39)	Y528C	probably damaging	Het
Alas1	T	A	9: 106,118,455 (GRCm39)	K222N	probably damaging	Het
Aplf	A	G	6: 87,623,227 (GRCm39)	V284A	probably benign	Het
Atp11a	G	A	8: 12,877,524 (GRCm39)	V317M	probably benign	Het
Bub3	A	G	7: 131,169,953 (GRCm39)	E206G	possibly damaging	Het
Cblb	T	G	16: 51,956,187 (GRCm39)	F263L	probably damaging	Het
Ces2h	T	A	8: 105,743,236 (GRCm39)	M157K	probably benign	Het
Cfh	A	G	1: 140,110,999 (GRCm39)	F6L	probably benign	Het
Chst1	G	T	2: 92,443,987 (GRCm39)	R153L	probably damaging	Het
Cimap2	T	C	4: 106,470,361 (GRCm39)	D232G	probably damaging	Het
Cntnap5a	T	A	1: 115,843,046 (GRCm39)	N121K	probably benign	Het
Crybg1	A	T	10: 43,862,372 (GRCm39)	S1467R	probably damaging	Het
Cyp2d22	A	G	15: 82,258,646 (GRCm39)	F72L	possibly damaging	Het
Dock8	T	C	19: 25,165,714 (GRCm39)	I1866T	probably damaging	Het
Egfem1	A	G	3: 29,744,270 (GRCm39)	N503S	probably damaging	Het
Ehbp1	T	C	11: 22,045,427 (GRCm39)	D774G	probably benign	Het
Foxp2	C	A	6: 15,376,773 (GRCm39)		probably benign	Het
Gins3	T	C	8: 96,364,547 (GRCm39)	V99A	possibly damaging	Het
Grm1	A	T	10: 10,956,143 (GRCm39)	I47N	probably damaging	Het
H2aj	C	G	6: 136,785,602 (GRCm39)	R89G	probably damaging	Het
Hsdl2	T	A	4: 59,601,408 (GRCm39)	S127T	probably benign	Het
Il5ra	A	T	6: 106,689,362 (GRCm39)	M410K	probably benign	Het
Ints7	A	G	1: 191,344,003 (GRCm39)	S548G	possibly damaging	Het
Kcnt1	A	G	2: 25,778,122 (GRCm39)	E80G	probably damaging	Het
Lgr6	T	A	1: 135,032,799 (GRCm39)	Q27L	unknown	Het
Lgr6	A	G	1: 134,915,629 (GRCm39)	V373A	probably damaging	Het
Map3k14	T	C	11: 103,117,963 (GRCm39)	I610V	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Metap1d	T	A	2: 71,352,889 (GRCm39)	H239Q	probably benign	Het
Mgst2	A	G	3: 51,589,251 (GRCm39)	Y88C	probably damaging	Het
Mroh4	T	C	15: 74,477,998 (GRCm39)	N903D	probably benign	Het
Nbeal2	T	G	9: 110,461,927 (GRCm39)	D1476A	probably damaging	Het
Nlgn1	C	A	3: 26,187,625 (GRCm39)	A87S	probably benign	Het
Nln	C	T	13: 104,189,087 (GRCm39)	G295S	probably damaging	Het
Nnt	T	A	13: 119,472,803 (GRCm39)	Y719F	probably benign	Het
Nnt	T	G	13: 119,474,953 (GRCm39)	I659L	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or51b17	A	T	7: 103,542,137 (GRCm39)	H268Q	probably benign	Het
Or52s6	G	A	7: 103,092,291 (GRCm39)	T13I	possibly damaging	Het
Or5p78	A	T	7: 108,212,357 (GRCm39)	Y281F	probably damaging	Het
Or9g4	A	G	2: 85,505,060 (GRCm39)	V145A	probably damaging	Het
Otogl	C	T	10: 107,613,089 (GRCm39)	C2041Y	probably damaging	Het
Patj	G	T	4: 98,385,285 (GRCm39)	D300Y	probably damaging	Het
Pkhd1l1	A	T	15: 44,423,831 (GRCm39)	E3124D	probably benign	Het
Plbd2	A	G	5: 120,625,514 (GRCm39)		probably null	Het
Pphln1	T	C	15: 93,318,171 (GRCm39)	Y57H	probably damaging	Het
Ppp1r16b	C	T	2: 158,588,523 (GRCm39)	T78M	probably damaging	Het
Prss40	T	G	1: 34,595,162 (GRCm39)	D224A	possibly damaging	Het
Senp6	A	G	9: 80,021,007 (GRCm39)		probably null	Het
Shank3	A	G	15: 89,416,301 (GRCm39)	E666G	probably damaging	Het
Slc13a1	T	A	6: 24,090,779 (GRCm39)	I547F	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc22a18	G	A	7: 143,046,578 (GRCm39)		probably null	Het
Slc5a4b	A	G	10: 75,917,161 (GRCm39)	C292R	probably damaging	Het
Spata31e5	T	C	1: 28,817,744 (GRCm39)	Q96R	probably benign	Het
Sphkap	T	A	1: 83,255,966 (GRCm39)	E594D	possibly damaging	Het
Srpra	T	A	9: 35,126,811 (GRCm39)	M61K	probably damaging	Het
Trmt10c	A	T	16: 55,855,240 (GRCm39)	Y132N	possibly damaging	Het

Other mutations in Dmrt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02215:Dmrt2	APN	19	25,655,498 (GRCm39)	missense	probably damaging	1.00
IGL02269:Dmrt2	APN	19	25,655,823 (GRCm39)	missense	probably benign	0.01
IGL02740:Dmrt2	APN	19	25,655,837 (GRCm39)	missense	possibly damaging	0.84
R0141:Dmrt2	UTSW	19	25,655,655 (GRCm39)	missense	possibly damaging	0.52
R0352:Dmrt2	UTSW	19	25,656,026 (GRCm39)	missense	probably damaging	1.00
R0514:Dmrt2	UTSW	19	25,653,019 (GRCm39)	critical splice donor site	probably null
R1016:Dmrt2	UTSW	19	25,652,938 (GRCm39)	missense	probably damaging	0.99
R1104:Dmrt2	UTSW	19	25,655,980 (GRCm39)	missense	probably benign	0.01
R1164:Dmrt2	UTSW	19	25,655,357 (GRCm39)	missense	possibly damaging	0.89
R1467:Dmrt2	UTSW	19	25,650,970 (GRCm39)	missense	possibly damaging	0.72
R1467:Dmrt2	UTSW	19	25,650,970 (GRCm39)	missense	possibly damaging	0.72
R3107:Dmrt2	UTSW	19	25,655,055 (GRCm39)	missense	probably benign	0.01
R3109:Dmrt2	UTSW	19	25,655,055 (GRCm39)	missense	probably benign	0.01
R4029:Dmrt2	UTSW	19	25,655,498 (GRCm39)	missense	probably damaging	0.99
R4841:Dmrt2	UTSW	19	25,655,031 (GRCm39)	missense	probably damaging	1.00
R5317:Dmrt2	UTSW	19	25,650,844 (GRCm39)	missense	probably benign	0.00
R6335:Dmrt2	UTSW	19	25,650,935 (GRCm39)	missense	possibly damaging	0.73
R6554:Dmrt2	UTSW	19	25,655,312 (GRCm39)	missense	probably damaging	1.00
R6752:Dmrt2	UTSW	19	25,655,706 (GRCm39)	missense	probably damaging	0.96
R7414:Dmrt2	UTSW	19	25,650,950 (GRCm39)	missense	probably benign	0.01
R7417:Dmrt2	UTSW	19	25,655,962 (GRCm39)	missense	probably benign	0.19
R8420:Dmrt2	UTSW	19	25,655,379 (GRCm39)	missense	probably damaging	1.00
R8489:Dmrt2	UTSW	19	25,655,831 (GRCm39)	missense	probably damaging	0.97
R8537:Dmrt2	UTSW	19	25,651,300 (GRCm39)	missense	possibly damaging	0.94
R9018:Dmrt2	UTSW	19	25,650,985 (GRCm39)	missense	probably benign	0.01
R9198:Dmrt2	UTSW	19	25,655,477 (GRCm39)	missense	probably benign	0.02
R9218:Dmrt2	UTSW	19	25,651,066 (GRCm39)	missense	possibly damaging	0.96
RF003:Dmrt2	UTSW	19	25,655,498 (GRCm39)	missense	probably damaging	1.00
X0058:Dmrt2	UTSW	19	25,651,194 (GRCm39)	missense	possibly damaging	0.95
X0060:Dmrt2	UTSW	19	25,651,194 (GRCm39)	missense	possibly damaging	0.95
X0063:Dmrt2	UTSW	19	25,651,194 (GRCm39)	missense	possibly damaging	0.95
Z1088:Dmrt2	UTSW	19	25,656,006 (GRCm39)	missense	probably damaging	1.00
Z1176:Dmrt2	UTSW	19	25,655,364 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCGAGCAAGGACTTCTGTAAC -3'
(R):5'- CTGAGCGTCTGCTGGAATACTGAG -3'

Sequencing Primer
(F):5'- GCAAGGACTTCTGTAACTTTTTACC -3'
(R):5'- TTAAGACGTGCCCTTGAGC -3'

Posted On

2013-04-16