Mutagenetix > Incidental Mutation

Incidental Mutation 'R0141:Dmrt2'

22349

Institutional Source

Beutler Lab

Gene Symbol

Dmrt2

Ensembl Gene

ENSMUSG00000048138

Gene Name

doublesex and mab-3 related transcription factor 2

Synonyms

Terra

MMRRC Submission

038426-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0141 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

25649775-25656355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25655655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 418 (Q418L)

Ref Sequence

ENSEMBL: ENSMUSP00000059654 (fasta)

Gene Model

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

AlphaFold

Q8BG36

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053068
AA Change: Q418L

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000059654
Gene: ENSMUSG00000048138
AA Change: Q418L

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

Meta Mutation Damage Score

0.0601

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 89.9%

Validation Efficiency

88% (50/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	C	13: 91,919,947 (GRCm39)	D294A	probably benign	Het
Adamts9	T	C	6: 92,920,066 (GRCm39)	D24G	probably benign	Het
Ahnak	G	A	19: 8,984,044 (GRCm39)	G1776D	probably damaging	Het
Arfgef3	C	A	10: 18,473,155 (GRCm39)	C1636F	probably damaging	Het
AW551984	A	G	9: 39,501,940 (GRCm39)	L722P	probably damaging	Het
Ccndbp1	T	A	2: 120,842,903 (GRCm39)	M188K	probably damaging	Het
Col27a1	A	T	4: 63,183,870 (GRCm39)		probably null	Het
Cpt1c	A	G	7: 44,616,095 (GRCm39)	Y306H	probably damaging	Het
Cyp3a57	A	G	5: 145,298,912 (GRCm39)	I71V	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Ebf1	T	C	11: 44,798,827 (GRCm39)	L284S	probably damaging	Het
Fam131a	G	A	16: 20,517,738 (GRCm39)	A15T	probably benign	Het
Fbxo17	A	G	7: 28,432,916 (GRCm39)	T146A	possibly damaging	Het
Fer1l6	A	G	15: 58,430,251 (GRCm39)	E226G	probably damaging	Het
Galnt18	A	T	7: 111,198,238 (GRCm39)	I174N	probably damaging	Het
Gm44501	T	C	17: 40,889,744 (GRCm39)	I86T	probably benign	Het
Gtsf1l	T	C	2: 162,929,246 (GRCm39)	Q79R	probably benign	Het
Hapln4	T	C	8: 70,540,930 (GRCm39)	L321P	probably damaging	Het
Herc2	A	G	7: 55,771,309 (GRCm39)	T1024A	probably benign	Het
Hps5	A	G	7: 46,438,605 (GRCm39)	S43P	probably damaging	Het
Igsf10	A	G	3: 59,238,253 (GRCm39)	Y643H	probably damaging	Het
Lama4	G	A	10: 38,968,274 (GRCm39)	R1472H	probably benign	Het
Lhx9	A	G	1: 138,767,744 (GRCm39)	Y73H	possibly damaging	Het
Loxl1	T	A	9: 58,219,415 (GRCm39)	Q252L	probably damaging	Het
Lrrc37	A	C	11: 103,504,512 (GRCm39)	I2485M	probably damaging	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nr3c2	T	A	8: 77,635,037 (GRCm39)	V46D	probably damaging	Het
Or11h4	T	C	14: 50,973,840 (GRCm39)	S260G	possibly damaging	Het
Or4k77	T	A	2: 111,199,835 (GRCm39)	I286N	probably damaging	Het
Or5i1	C	G	2: 87,613,049 (GRCm39)	P55R	possibly damaging	Het
Or5p63	A	C	7: 107,811,210 (GRCm39)	N175K	possibly damaging	Het
Or5p70	A	T	7: 107,994,575 (GRCm39)	N83Y	probably benign	Het
Osbp	T	C	19: 11,951,223 (GRCm39)	V256A	possibly damaging	Het
Pclo	A	T	5: 14,841,936 (GRCm39)	D4737V	unknown	Het
Pkdrej	A	G	15: 85,699,831 (GRCm39)	I2035T	probably damaging	Het
Plek2	A	G	12: 78,941,278 (GRCm39)	S185P	probably damaging	Het
Pnpla6	G	T	8: 3,582,117 (GRCm39)		probably null	Het
Pou3f2	T	C	4: 22,487,210 (GRCm39)	T308A	possibly damaging	Het
Pramel22	T	C	4: 143,381,138 (GRCm39)	Y295C	probably benign	Het
Pxmp4	A	G	2: 154,434,215 (GRCm39)	V82A	probably damaging	Het
Rnf6	A	T	5: 146,148,645 (GRCm39)	N135K	possibly damaging	Het
Rtl1	A	G	12: 109,559,382 (GRCm39)	V819A	probably damaging	Het
Scn1a	C	A	2: 66,119,406 (GRCm39)	V1355L	probably damaging	Het
Scn2a	T	A	2: 65,542,160 (GRCm39)	N754K	probably benign	Het
Serpina3b	A	T	12: 104,097,030 (GRCm39)	N104Y	probably damaging	Het
Sh3rf2	T	C	18: 42,289,122 (GRCm39)	S648P	probably benign	Het
Slc17a6	G	A	7: 51,318,815 (GRCm39)	V486I	probably benign	Het
Spata31e2	A	T	1: 26,722,863 (GRCm39)	N772K	probably benign	Het
Syne2	T	G	12: 75,988,072 (GRCm39)	D1743E	probably damaging	Het
Tex14	T	G	11: 87,383,857 (GRCm39)		probably null	Het
Tfb1m	T	C	17: 3,605,232 (GRCm39)	D87G	probably damaging	Het
Tll2	C	T	19: 41,086,351 (GRCm39)	G609S	probably damaging	Het
Tsc22d2	A	T	3: 58,324,577 (GRCm39)		probably benign	Het
Tsen2	A	G	6: 115,545,790 (GRCm39)	D360G	probably damaging	Het
Ugt2b37	G	A	5: 87,388,842 (GRCm39)	P457L	probably damaging	Het
Vmn1r68	T	C	7: 10,261,252 (GRCm39)	N282S	possibly damaging	Het
Vmn2r58	G	A	7: 41,511,309 (GRCm39)	S498F	probably benign	Het
Zfp959	T	C	17: 56,205,139 (GRCm39)	I392T	probably benign	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
R0294:Dmrt2	UTSW	19	25,655,435 (GRCm39)	missense	probably damaging	1.00
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'- AATGCTACCACTTCTGTCCAAGCTC -3'
(R):5'- GGCTTCTTTGACAAATGGTGCGTTC -3'

Sequencing Primer
(F):5'- TGTCCAAGCTCTGAAGCC -3'
(R):5'- GACAAATGGTGCGTTCAACTC -3'

Posted On

2013-04-16