Mutagenetix > Incidental Mutation

Incidental Mutation 'R7414:Dmrt2'

575348

Institutional Source

Beutler Lab

Gene Symbol

Dmrt2

Ensembl Gene

ENSMUSG00000048138

Gene Name

doublesex and mab-3 related transcription factor 2

Synonyms

Terra

MMRRC Submission

045494-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25649775-25656355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25650950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 45 (D45E)

Ref Sequence

ENSEMBL: ENSMUSP00000059654 (fasta)

Gene Model

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

AlphaFold

Q8BG36

Predicted Effect

probably benign
Transcript: ENSMUST00000053068
AA Change: D45E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000059654
Gene: ENSMUSG00000048138
AA Change: D45E

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (98/101)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,349,779 (GRCm39)	T90M	probably damaging	Het
Abca4	T	A	3: 121,896,387 (GRCm39)	S540T	probably benign	Het
Adcy4	G	A	14: 56,019,090 (GRCm39)	L156F	probably benign	Het
Adcyap1	T	A	17: 93,510,256 (GRCm39)	L95M	probably damaging	Het
Ahctf1	T	C	1: 179,611,670 (GRCm39)	T567A	probably benign	Het
Ankrd26	T	C	6: 118,485,741 (GRCm39)	I1378V	possibly damaging	Het
Ankrd44	T	A	1: 54,706,539 (GRCm39)	H639L	probably damaging	Het
Arfrp1	C	T	2: 181,001,307 (GRCm39)	R189Q	possibly damaging	Het
Astn2	T	C	4: 65,459,193 (GRCm39)	D1126G	possibly damaging	Het
Bap1	G	C	14: 30,975,572 (GRCm39)	G139R	probably benign	Het
Bms1	C	T	6: 118,360,706 (GRCm39)	R1254Q	possibly damaging	Het
Ceacam15	A	G	7: 16,407,235 (GRCm39)	V94A	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cip2a	T	C	16: 48,821,998 (GRCm39)	F209L	probably benign	Het
Clec2m	T	C	6: 129,302,596 (GRCm39)	T144A	probably benign	Het
Clock	T	C	5: 76,410,611 (GRCm39)	T87A	probably benign	Het
Cntrl	A	T	2: 35,055,479 (GRCm39)	I1706L	probably benign	Het
Cr2	C	A	1: 194,832,344 (GRCm39)	V981L	probably benign	Het
Cxcr6	G	A	9: 123,639,287 (GRCm39)	W103*	probably null	Het
Dld	A	T	12: 31,385,525 (GRCm39)	F272Y	probably damaging	Het
Eif2a	T	A	3: 58,433,502 (GRCm39)	L8*	probably null	Het
Epg5	G	T	18: 78,026,747 (GRCm39)	R1246L	possibly damaging	Het
Ets1	T	A	9: 32,664,153 (GRCm39)	C350*	probably null	Het
Fam135b	C	T	15: 71,350,105 (GRCm39)	R345Q	probably damaging	Het
Fbn2	C	T	18: 58,229,122 (GRCm39)	R696H	probably damaging	Het
Gbf1	C	A	19: 46,271,797 (GRCm39)	Y159*	probably null	Het
Gcsam	T	C	16: 45,437,301 (GRCm39)		probably null	Het
Gmpr2	G	T	14: 55,910,259 (GRCm39)		probably null	Het
H2-T3	C	A	17: 36,498,275 (GRCm39)	V257L	not run	Het
Hadha	A	G	5: 30,331,610 (GRCm39)	F449L	possibly damaging	Het
Haus3	T	A	5: 34,323,477 (GRCm39)	I378L	probably benign	Het
Hdac7	T	A	15: 97,706,392 (GRCm39)	H272L	probably benign	Het
Icam5	T	C	9: 20,948,889 (GRCm39)	V747A	probably damaging	Het
Ifrd2	G	A	9: 107,467,370 (GRCm39)	V81M	possibly damaging	Het
Insyn2a	G	T	7: 134,519,738 (GRCm39)	A264D	probably benign	Het
Ipcef1	G	T	10: 6,840,673 (GRCm39)	C345*	probably null	Het
Ipmk	T	A	10: 71,217,124 (GRCm39)	F223I	probably damaging	Het
Itpr2	A	T	6: 146,274,706 (GRCm39)	N825K	probably benign	Het
Itprid2	A	G	2: 79,475,072 (GRCm39)	K344E	possibly damaging	Het
Kazn	G	A	4: 141,836,649 (GRCm39)	T530I		Het
Kmt2d	C	T	15: 98,737,737 (GRCm39)	V5120M	unknown	Het
Krt6b	T	G	15: 101,587,449 (GRCm39)	D215A	probably benign	Het
Lgals12	T	C	19: 7,581,335 (GRCm39)	K124R	probably damaging	Het
Lpar6	T	A	14: 73,476,240 (GRCm39)	V67D	probably damaging	Het
Lrch3	T	C	16: 32,818,883 (GRCm39)	Y661H	probably damaging	Het
Lrrc32	A	T	7: 98,149,201 (GRCm39)	Q660H	probably benign	Het
Lurap1l	T	A	4: 80,871,991 (GRCm39)	H161Q	probably benign	Het
Map3k19	A	G	1: 127,766,189 (GRCm39)	I245T	probably damaging	Het
Mcf2l	T	A	8: 13,069,022 (GRCm39)	*1119K	probably null	Het
Mertk	C	A	2: 128,571,313 (GRCm39)	A89E	possibly damaging	Het
Mical3	A	T	6: 121,011,074 (GRCm39)	Y375N	probably damaging	Het
Myo15a	T	A	11: 60,374,309 (GRCm39)	D121E		Het
N4bp2l1	T	A	5: 150,499,758 (GRCm39)	N116I	probably damaging	Het
Nbeal1	T	C	1: 60,233,756 (GRCm39)		probably null	Het
Nlrp12	A	T	7: 3,289,977 (GRCm39)	D178E	probably benign	Het
Nt5c2	C	A	19: 46,878,328 (GRCm39)	G444C	probably damaging	Het
Or10g7	T	A	9: 39,905,349 (GRCm39)	M81K	possibly damaging	Het
Or2f1b	T	A	6: 42,739,762 (GRCm39)	Y259N	probably damaging	Het
Or8b48	T	C	9: 38,492,764 (GRCm39)	F64L	probably benign	Het
Pdcl2	A	C	5: 76,460,359 (GRCm39)	S220A	possibly damaging	Het
Pip5kl1	T	C	2: 32,468,247 (GRCm39)	S138P	possibly damaging	Het
Pkd1l1	A	T	11: 8,866,267 (GRCm39)	N979K		Het
Prkcb	A	T	7: 122,167,450 (GRCm39)	T387S	possibly damaging	Het
Pxdc1	A	G	13: 34,821,135 (GRCm39)		probably benign	Het
Sbf2	C	T	7: 109,913,271 (GRCm39)	E1668K	possibly damaging	Het
Sec16a	T	G	2: 26,313,643 (GRCm39)	T455P		Het
Sec24b	C	A	3: 129,803,514 (GRCm39)	V412F	probably benign	Het
Serpina3b	A	G	12: 104,099,145 (GRCm39)	N220S	probably benign	Het
Sgip1	C	T	4: 102,824,821 (GRCm39)	Q581*	probably null	Het
Shf	A	T	2: 122,190,063 (GRCm39)	I175N	possibly damaging	Het
Slc16a10	G	A	10: 40,017,992 (GRCm39)	T14M	probably benign	Het
Slc22a4	A	T	11: 53,888,254 (GRCm39)	M258K	probably benign	Het
Slfn8	A	T	11: 82,907,618 (GRCm39)	Y308*	probably null	Het
Slfnl1	T	C	4: 120,392,451 (GRCm39)	Y249H	probably damaging	Het
Smchd1	T	C	17: 71,782,074 (GRCm39)	Y29C	probably damaging	Het
Snai1	C	A	2: 167,380,588 (GRCm39)		probably null	Het
Sntg1	T	C	1: 8,518,289 (GRCm39)	Y368C	probably damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Spop	G	A	11: 95,365,334 (GRCm39)	V126M	probably damaging	Het
Taar3	A	T	10: 23,825,715 (GRCm39)	Y87F	probably damaging	Het
Tarm1	C	A	7: 3,545,318 (GRCm39)	M177I	probably benign	Het
Tcerg1l	A	G	7: 137,819,786 (GRCm39)	F485L	probably damaging	Het
Thsd7b	A	T	1: 129,556,717 (GRCm39)	I435F	probably damaging	Het
Tiam2	A	G	17: 3,464,388 (GRCm39)	D39G	possibly damaging	Het
Tigd4	T	C	3: 84,501,128 (GRCm39)	V15A	probably benign	Het
Tll2	T	C	19: 41,092,268 (GRCm39)	D523G	probably damaging	Het
Tmem117	A	G	15: 94,612,776 (GRCm39)	D104G	probably damaging	Het
Tmem132b	T	C	5: 125,864,555 (GRCm39)	L887P	probably damaging	Het
Tnfrsf26	A	T	7: 143,168,642 (GRCm39)	V132D	probably damaging	Het
Tomt	T	A	7: 101,549,715 (GRCm39)	D191V	probably damaging	Het
Ttc39b	T	C	4: 83,160,459 (GRCm39)	M373V	probably damaging	Het
Ttn	G	A	2: 76,568,493 (GRCm39)	P27467S	possibly damaging	Het
Ttn	A	C	2: 76,573,130 (GRCm39)	V25921G	probably damaging	Het
Ubxn2a	A	C	12: 4,941,381 (GRCm39)	V75G	probably damaging	Het
Uchl5	A	T	1: 143,682,433 (GRCm39)	K319N	unknown	Het
Ugt2b1	T	C	5: 87,073,693 (GRCm39)	D222G	probably damaging	Het
Vmn1r213	A	G	13: 23,195,446 (GRCm39)	I10V	unknown	Het
Vps13b	T	C	15: 35,910,973 (GRCm39)	I3579T	probably damaging	Het
Xpo5	T	A	17: 46,532,295 (GRCm39)	H443Q	probably benign	Het
Zfp316	A	G	5: 143,250,407 (GRCm39)	M2T	unknown	Het
Zscan4-ps2	A	G	7: 11,251,359 (GRCm39)	T160A	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
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
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'- AATTGCGACGGGTCTTTAGG -3'
(R):5'- CTTGAGACAGGATACCACGC -3'

Sequencing Primer
(F):5'- CGACGGGTCTTTAGGCCTTTTTC -3'
(R):5'- CTCAGTTTGCGCGGCTCTG -3'

Posted On

2019-10-07