Mutagenetix > Incidental Mutation

Incidental Mutation 'R7156:Dmrta2'

557289

Institutional Source

Beutler Lab

Gene Symbol

Dmrta2

Ensembl Gene

ENSMUSG00000047143

Gene Name

doublesex and mab-3 related transcription factor like family A2

Synonyms

Dmrt5

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109978053-109983687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109981988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 311 (T311A)

Ref Sequence

ENSEMBL: ENSMUSP00000060441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061187]

AlphaFold

A2A9A2

Predicted Effect

probably damaging
Transcript: ENSMUST00000061187
AA Change: T311A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060441
Gene: ENSMUSG00000047143
AA Change: T311A

Domain	Start	End	E-Value	Type
low complexity region	8	60	N/A	INTRINSIC
DM	65	118	3.44e-29	SMART
low complexity region	164	182	N/A	INTRINSIC
low complexity region	202	217	N/A	INTRINSIC
low complexity region	254	288	N/A	INTRINSIC
Pfam:DMA	310	346	1.2e-23	PFAM
low complexity region	352	364	N/A	INTRINSIC
low complexity region	383	395	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (81/81)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit telencephalon hypoplasia, reduced cerebral cortex area, absent hippocampus, small olfactory bulb, disorganized medial cortex and decreased cortical neurons due to reduced proliferation of neuronal precursors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	C	7: 40,993,858	I317T	possibly damaging	Het
4931406P16Rik	G	T	7: 34,245,708	N582K	possibly damaging	Het
4931409K22Rik	C	T	5: 24,552,650	E150K	probably benign	Het
Acsl5	G	A	19: 55,268,828		probably null	Het
Ahrr	G	A	13: 74,229,916	T136I	probably damaging	Het
AI597479	G	A	1: 43,111,101	D124N	probably damaging	Het
Arap2	G	T	5: 62,604,571	A1604D	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Cadps2	T	C	6: 23,688,956	N118S	probably benign	Het
Caskin1	T	A	17: 24,500,683		probably null	Het
Cc2d1a	C	T	8: 84,135,760	V684M	possibly damaging	Het
Ccdc91	T	C	6: 147,534,178	S87P	possibly damaging	Het
Cdr2l	A	G	11: 115,390,966	Q99R	probably benign	Het
Celsr3	T	C	9: 108,838,004	L2066P	possibly damaging	Het
Cep95	A	C	11: 106,809,224	L313F	possibly damaging	Het
Chst10	G	A	1: 38,874,007	T63M	probably damaging	Het
Clrn2	G	A	5: 45,453,916	G36R	probably damaging	Het
Cnn2	T	G	10: 79,994,515	Y273*	probably null	Het
Crtap	T	C	9: 114,378,096	T365A	probably benign	Het
D630045J12Rik	T	C	6: 38,195,029	T735A	possibly damaging	Het
Disp2	C	T	2: 118,791,811	A1008V	probably damaging	Het
Dmrt3	A	G	19: 25,610,953	D52G	probably damaging	Het
Dmrta1	T	G	4: 89,688,463	L52R	probably damaging	Het
Dnm1	T	A	2: 32,340,467	N112Y	probably damaging	Het
Dysf	T	C	6: 84,087,876		probably null	Het
Ep400	A	G	5: 110,685,363	F2034L	unknown	Het
F12	G	A	13: 55,418,497	A494V	probably damaging	Het
Fbp2	A	T	13: 62,841,861	F210L	probably benign	Het
Fbxo31	T	A	8: 121,554,321	Q362L	possibly damaging	Het
Fkbp4	C	T	6: 128,435,824	A95T	probably benign	Het
Frmd6	T	G	12: 70,877,209	C80W	probably damaging	Het
Fsip2	A	G	2: 82,982,741	I3135V	probably benign	Het
Gm597	A	T	1: 28,776,767	M728K	possibly damaging	Het
Guca2b	T	A	4: 119,657,690	E34V	probably damaging	Het
Hdlbp	G	A	1: 93,413,915	T974I	probably damaging	Het
Hsdl2	T	A	4: 59,617,653	M460K	possibly damaging	Het
Ift172	C	T	5: 31,272,075	V581M	probably damaging	Het
Ift74	A	G	4: 94,660,952	K313R	possibly damaging	Het
Ints4	T	A	7: 97,535,286		probably null	Het
Kif21b	A	C	1: 136,147,824	T230P	probably damaging	Het
Kit	A	T	5: 75,615,374	Y272F	probably benign	Het
Krt77	G	A	15: 101,865,496	T241M	probably benign	Het
Lce1j	T	A	3: 92,789,184	S96C	unknown	Het
Marveld3	T	A	8: 109,948,188	D332V	probably damaging	Het
Matr3	G	T	18: 35,572,921	V300F	probably damaging	Het
Mical1	T	A	10: 41,485,257		probably null	Het
Mslnl	T	A	17: 25,743,210	V194E	probably benign	Het
Mug1	C	A	6: 121,880,905	T1119K	probably damaging	Het
Mug1	C	T	6: 121,884,343	P1308S	probably damaging	Het
Neb	C	A	2: 52,305,283		probably null	Het
Neo1	T	A	9: 58,902,923	T1082S	probably damaging	Het
Nkx6-2	C	T	7: 139,582,129		probably null	Het
Olfr1065	T	A	2: 86,445,308	I225L	probably damaging	Het
Olfr981	T	C	9: 40,023,230	I279T	probably benign	Het
Orc1	A	T	4: 108,595,459	E177V	probably benign	Het
Parp1	G	A	1: 180,599,064	V924I	possibly damaging	Het
Pax2	A	T	19: 44,788,859	I165F	probably benign	Het
Pnma2	C	T	14: 66,916,531	P135S	probably benign	Het
Ranbp17	A	G	11: 33,297,420	I718T	probably damaging	Het
Rbm25	T	A	12: 83,664,191	D359E	unknown	Het
Rgs3	T	C	4: 62,617,126	L194P	probably damaging	Het
Serpinb6b	A	G	13: 32,971,615	I104V	probably benign	Het
Smg9	A	G	7: 24,420,861	D420G	probably benign	Het
Smpd1	C	T	7: 105,554,486		probably benign	Het
Snx17	T	A	5: 31,197,348	M318K	probably damaging	Het
Stard10	G	A	7: 101,346,051	D337N	probably damaging	Het
Tex14	A	G	11: 87,484,719	T103A	probably damaging	Het
Tle1	A	G	4: 72,170,716	S97P	probably benign	Het
Tnfrsf8	T	A	4: 145,315,084	M1L	unknown	Het
Traf3ip2	T	C	10: 39,626,177	L107P	possibly damaging	Het
Trpc7	A	T	13: 56,789,766	S626T	possibly damaging	Het
Ubl7	T	A	9: 57,929,756	I350N	probably damaging	Het
Ubr3	T	A	2: 70,021,623	I1878N	probably damaging	Het
Usp24	G	T	4: 106,387,919		probably null	Het
Vcan	A	T	13: 89,689,110	S2772T	possibly damaging	Het
Vmn2r79	T	C	7: 87,037,643	V744A	probably damaging	Het
Wbp2nl	T	C	15: 82,305,702	S32P	probably damaging	Het
Wwc1	A	G	11: 35,897,374		probably null	Het
Zfp629	C	T	7: 127,612,291	W115*	probably null	Het

Other mutations in Dmrta2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1490:Dmrta2	UTSW	4	109979875	missense	unknown
R7259:Dmrta2	UTSW	4	109981907	missense	possibly damaging	0.94
R7476:Dmrta2	UTSW	4	109982025	missense	probably damaging	0.99
R8328:Dmrta2	UTSW	4	109980009	missense	unknown
R9223:Dmrta2	UTSW	4	109982582	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GACGGCGAGTCCTTTTCC -3'
(R):5'- CAGCAAGGGTCTGTGGTGC -3'

Sequencing Primer
(F):5'- CGAGTCCTTTTCCGGGTCG -3'
(R):5'- GTGGGCCCGGTCTGCAG -3'

Posted On

2019-06-26