Mutagenetix > Incidental Mutation

Incidental Mutation 'R1865:Tfap2a'

208653

Institutional Source

Beutler Lab

Gene Symbol

Tfap2a

Ensembl Gene

ENSMUSG00000021359

Gene Name

transcription factor AP-2, alpha

Synonyms

Ap2tf, Ap2, Tcfap2a, Ap-2 (a), AP-2 alpha, AP2alpha

MMRRC Submission

039888-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40868778-40891852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 40881884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 167 (H167Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021787] [ENSMUST00000110193] [ENSMUST00000223869] [ENSMUST00000224665] [ENSMUST00000225180] [ENSMUST00000224999]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000021787
AA Change: H132Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021787
Gene: ENSMUSG00000021359
AA Change: H132Q

Domain	Start	End	E-Value	Type
low complexity region	46	68	N/A	INTRINSIC
low complexity region	82	95	N/A	INTRINSIC
low complexity region	126	142	N/A	INTRINSIC
Pfam:TF_AP-2	201	408	1.6e-103	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110193
AA Change: H138Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105822
Gene: ENSMUSG00000021359
AA Change: H138Q

Domain	Start	End	E-Value	Type
low complexity region	52	74	N/A	INTRINSIC
low complexity region	88	101	N/A	INTRINSIC
low complexity region	132	148	N/A	INTRINSIC
Pfam:TF_AP-2	209	409	7.8e-94	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181176

Predicted Effect

probably damaging
Transcript: ENSMUST00000223869
AA Change: H134Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224319

Predicted Effect

probably damaging
Transcript: ENSMUST00000224665
AA Change: H140Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225180
AA Change: H167Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224999
AA Change: H140Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224700

Meta Mutation Damage Score

0.2121

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (99/101)

MGI Phenotype

FUNCTION: This gene is a member of the activator protein 2 (AP-2) transcription factor family. The protein encoded by this gene can act as both an activator and repressor of gene transcription, and plays an important role in early embryogenesis, specifically in cranial development. This protein forms both homodimers and heterodimers, and binds to a GC-rich consensus sequence found in some promoters and enhancers. Disruption of this gene causes perinatal death, with neural tube, craniofacial, and limb mesenchyme defects. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mutants die perinatally with anencephaly, craniofacial and neural tube defects, thoraco-abdominoschisis and defects in sensory organs, cranial ganglia, skeleton, and heart. On some genetic backgrounds, heterozygotes may exhibit exencephaly. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	A	G	1: 158,797,094 (GRCm39)		noncoding transcript	Het
Aatk	G	A	11: 119,901,048 (GRCm39)	T1059M	probably benign	Het
Adgrg2	G	A	X: 159,265,347 (GRCm39)	M532I	probably benign	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Ahcyl2	G	A	6: 29,908,354 (GRCm39)	V575M	probably damaging	Het
Apobr	A	G	7: 126,185,140 (GRCm39)	D217G	probably benign	Het
Aqp9	A	C	9: 71,019,658 (GRCm39)	N267K	probably benign	Het
Arap2	A	G	5: 62,855,606 (GRCm39)	V610A	probably damaging	Het
Arhgap21	T	C	2: 20,866,015 (GRCm39)	E893G	probably damaging	Het
Atn1	T	C	6: 124,722,259 (GRCm39)		probably benign	Het
Bcl7a	A	T	5: 123,494,032 (GRCm39)	D68V	probably damaging	Het
Cbl	A	C	9: 44,075,462 (GRCm39)	C394W	probably damaging	Het
Ccdc18	T	A	5: 108,341,668 (GRCm39)	D854E	probably benign	Het
Ccdc93	A	T	1: 121,426,956 (GRCm39)	E580V	probably damaging	Het
Cd180	T	A	13: 102,842,517 (GRCm39)	M521K	probably benign	Het
Cd300ld2	T	G	11: 114,903,444 (GRCm39)		probably benign	Het
Cdh10	T	C	15: 18,899,690 (GRCm39)	F6L	probably benign	Het
Cep78	A	G	19: 15,933,368 (GRCm39)	S737P	probably damaging	Het
Ces1f	G	T	8: 94,000,893 (GRCm39)		probably benign	Het
Clcn1	T	A	6: 42,282,475 (GRCm39)	D442E	probably damaging	Het
Col20a1	T	C	2: 180,657,606 (GRCm39)	L1250P	possibly damaging	Het
Crispld2	G	A	8: 120,737,306 (GRCm39)	G19E	probably benign	Het
Ctbp2	C	T	7: 132,592,283 (GRCm39)	A849T	probably benign	Het
Cts6	A	G	13: 61,349,393 (GRCm39)	I105T	probably benign	Het
Cul4a	A	G	8: 13,192,589 (GRCm39)	T617A	possibly damaging	Het
Cyp2c68	G	T	19: 39,722,733 (GRCm39)	R272S	probably benign	Het
Cystm1	A	G	18: 36,499,729 (GRCm39)	Y48C	unknown	Het
Dach1	T	A	14: 98,077,645 (GRCm39)	R579S	possibly damaging	Het
Ddrgk1	A	T	2: 130,496,215 (GRCm39)	I270N	probably damaging	Het
Dhx32	A	T	7: 133,339,025 (GRCm39)	C197S	probably benign	Het
Dnah10	A	C	5: 124,909,590 (GRCm39)		probably null	Het
Ecm2	T	C	13: 49,683,621 (GRCm39)	V533A	probably benign	Het
Eif4g1	A	G	16: 20,497,398 (GRCm39)	T202A	probably damaging	Het
Ephb4	A	T	5: 137,361,572 (GRCm39)	Q525L	possibly damaging	Het
F2	T	C	2: 91,465,539 (GRCm39)	D82G	probably benign	Het
Fam184b	G	T	5: 45,689,231 (GRCm39)	N868K	possibly damaging	Het
Fbxo25	A	G	8: 13,985,248 (GRCm39)	T314A	probably damaging	Het
Folh1	A	G	7: 86,375,114 (GRCm39)	M624T	possibly damaging	Het
Gabra5	G	A	7: 57,138,940 (GRCm39)	R71*	probably null	Het
Gmpr	G	T	13: 45,696,101 (GRCm39)	V278F	probably damaging	Het
Hmcn1	A	T	1: 150,479,563 (GRCm39)	C4634S	probably damaging	Het
Hspa5	T	C	2: 34,664,553 (GRCm39)	F336L	probably damaging	Het
Igfbp4	G	A	11: 98,932,512 (GRCm39)	G64R	probably damaging	Het
Itch	G	A	2: 155,010,666 (GRCm39)	V45I	probably damaging	Het
Itgb1	T	A	8: 129,446,938 (GRCm39)	F484L	probably benign	Het
Itpr3	A	G	17: 27,338,997 (GRCm39)	I2593V	probably benign	Het
Kcnj8	T	A	6: 142,515,966 (GRCm39)	H47L	probably damaging	Het
Lcn2	T	C	2: 32,275,434 (GRCm39)	T194A	possibly damaging	Het
Mast4	A	T	13: 102,930,625 (GRCm39)	V209D	probably damaging	Het
Matn3	T	A	12: 9,002,041 (GRCm39)	D84E	probably damaging	Het
Mcm7	T	A	5: 138,168,637 (GRCm39)	Q18L	possibly damaging	Het
Mctp1	G	A	13: 76,533,267 (GRCm39)	C205Y	possibly damaging	Het
Megf11	A	G	9: 64,587,581 (GRCm39)	T460A	probably benign	Het
Mlh1	A	T	9: 111,086,092 (GRCm39)		probably benign	Het
Mylk	T	A	16: 34,732,600 (GRCm39)	S627T	probably benign	Het
Nat2	A	G	8: 67,954,204 (GRCm39)	M105V	possibly damaging	Het
Nav2	A	G	7: 49,197,943 (GRCm39)	T2A	possibly damaging	Het
Ndst3	A	T	3: 123,465,120 (GRCm39)	I284N	probably damaging	Het
Nfix	A	G	8: 85,498,904 (GRCm39)	V23A	possibly damaging	Het
Nr2f1	T	C	13: 78,338,045 (GRCm39)	Y200C	probably damaging	Het
Or14a258	T	C	7: 86,035,769 (GRCm39)	Y33C	probably damaging	Het
Or2g25	T	C	17: 37,970,754 (GRCm39)	I157V	possibly damaging	Het
Or6b13	G	A	7: 139,782,285 (GRCm39)	R133C	probably damaging	Het
Or8d1b	T	C	9: 38,887,200 (GRCm39)	V76A	probably benign	Het
Or8u8	T	G	2: 86,011,882 (GRCm39)	D191A	probably damaging	Het
Pcdhb21	T	C	18: 37,647,648 (GRCm39)	V259A	possibly damaging	Het
Phip	A	T	9: 82,827,845 (GRCm39)	V127E	probably damaging	Het
Pik3r5	A	G	11: 68,383,318 (GRCm39)	D379G	probably damaging	Het
Pkdrej	A	T	15: 85,704,525 (GRCm39)	C470*	probably null	Het
Plxnd1	A	T	6: 115,946,402 (GRCm39)		probably null	Het
Polr1a	G	A	6: 71,943,508 (GRCm39)	V1248I	probably damaging	Het
Pou3f2	A	T	4: 22,486,917 (GRCm39)	C405*	probably null	Het
Ppp1r3a	A	T	6: 14,718,404 (GRCm39)	S837T	probably damaging	Het
Rest	T	A	5: 77,428,745 (GRCm39)	V388E	probably damaging	Het
Rnft2	A	T	5: 118,370,540 (GRCm39)	W220R	probably damaging	Het
Rnpc3	A	T	3: 113,415,559 (GRCm39)	Y107*	probably null	Het
Senp8	G	A	9: 59,644,835 (GRCm39)	S94F	probably damaging	Het
Ski	A	G	4: 155,306,698 (GRCm39)	S94P	possibly damaging	Het
Skint8	A	G	4: 111,794,192 (GRCm39)	D194G	probably damaging	Het
Slc35c2	C	A	2: 165,120,303 (GRCm39)	R232L	probably benign	Het
Slc43a3	T	A	2: 84,777,245 (GRCm39)	V198D	possibly damaging	Het
Slc8b1	A	T	5: 120,667,717 (GRCm39)	N467I	probably damaging	Het
Srbd1	A	G	17: 86,422,732 (GRCm39)		probably benign	Het
Sstr3	T	C	15: 78,424,168 (GRCm39)	H193R	probably damaging	Het
Sv2c	A	C	13: 96,113,283 (GRCm39)	S555R	probably benign	Het
Tagln3	A	G	16: 45,532,013 (GRCm39)	V173A	possibly damaging	Het
Tctn2	C	A	5: 124,757,143 (GRCm39)		noncoding transcript	Het
Tmem213	A	G	6: 38,086,487 (GRCm39)	T48A	possibly damaging	Het
Tmem30c	A	G	16: 57,090,352 (GRCm39)		probably benign	Het
Tmem37	A	G	1: 119,995,952 (GRCm39)	S42P	probably damaging	Het
Tnxb	C	T	17: 34,922,431 (GRCm39)	Q2415*	probably null	Het
Ttyh1	T	C	7: 4,122,730 (GRCm39)	L26P	probably damaging	Het
Ubn2	T	A	6: 38,417,425 (GRCm39)	D154E	possibly damaging	Het
Vdac3	A	T	8: 23,070,553 (GRCm39)	Y119*	probably null	Het
Vmn2r58	T	C	7: 41,486,682 (GRCm39)	I738V	possibly damaging	Het
Zfp704	A	G	3: 9,539,551 (GRCm39)		probably benign	Het
Znfx1	G	A	2: 166,880,729 (GRCm39)	R352W	probably damaging	Het

Other mutations in Tfap2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4366001:Tfap2a	UTSW	13	40,874,850 (GRCm39)	missense	possibly damaging	0.67
R0124:Tfap2a	UTSW	13	40,870,887 (GRCm39)	splice site	probably benign
R0400:Tfap2a	UTSW	13	40,870,888 (GRCm39)	splice site	probably benign
R0486:Tfap2a	UTSW	13	40,882,170 (GRCm39)	missense	probably damaging	1.00
R1132:Tfap2a	UTSW	13	40,874,867 (GRCm39)	splice site	probably null
R1418:Tfap2a	UTSW	13	40,870,680 (GRCm39)	missense	possibly damaging	0.89
R1751:Tfap2a	UTSW	13	40,878,613 (GRCm39)	missense	probably damaging	1.00
R1767:Tfap2a	UTSW	13	40,878,613 (GRCm39)	missense	probably damaging	1.00
R1802:Tfap2a	UTSW	13	40,878,646 (GRCm39)	missense	probably damaging	1.00
R4913:Tfap2a	UTSW	13	40,870,706 (GRCm39)	missense	probably damaging	1.00
R5764:Tfap2a	UTSW	13	40,881,831 (GRCm39)	missense	possibly damaging	0.64
R6378:Tfap2a	UTSW	13	40,876,717 (GRCm39)	missense	possibly damaging	0.48
R6496:Tfap2a	UTSW	13	40,882,251 (GRCm39)	missense	probably damaging	1.00
R6751:Tfap2a	UTSW	13	40,882,230 (GRCm39)	missense	probably damaging	1.00
R6773:Tfap2a	UTSW	13	40,882,230 (GRCm39)	missense	probably damaging	1.00
R6774:Tfap2a	UTSW	13	40,882,230 (GRCm39)	missense	probably damaging	1.00
R6786:Tfap2a	UTSW	13	40,882,230 (GRCm39)	missense	probably damaging	1.00
R7027:Tfap2a	UTSW	13	40,887,150 (GRCm39)	missense	probably benign	0.02
R7140:Tfap2a	UTSW	13	40,883,523 (GRCm39)	missense	probably benign	0.19
R7268:Tfap2a	UTSW	13	40,882,236 (GRCm39)	missense	possibly damaging	0.91
R7299:Tfap2a	UTSW	13	40,874,784 (GRCm39)	missense	probably damaging	1.00
R7301:Tfap2a	UTSW	13	40,874,784 (GRCm39)	missense	probably damaging	1.00
R7689:Tfap2a	UTSW	13	40,882,051 (GRCm39)	missense	probably damaging	1.00
R7761:Tfap2a	UTSW	13	40,878,656 (GRCm39)	missense	probably benign	0.12
R8005:Tfap2a	UTSW	13	40,872,684 (GRCm39)	missense	possibly damaging	0.61
R8170:Tfap2a	UTSW	13	40,872,744 (GRCm39)	missense	probably benign	0.00
R8423:Tfap2a	UTSW	13	40,872,706 (GRCm39)	missense	possibly damaging	0.58
R8550:Tfap2a	UTSW	13	40,882,225 (GRCm39)	missense	probably damaging	1.00
R8809:Tfap2a	UTSW	13	40,870,829 (GRCm39)	missense	probably damaging	1.00
R8929:Tfap2a	UTSW	13	40,882,308 (GRCm39)	missense	probably benign	0.01
R9213:Tfap2a	UTSW	13	40,870,875 (GRCm39)	missense	possibly damaging	0.94
R9790:Tfap2a	UTSW	13	40,870,658 (GRCm39)	missense	probably damaging	1.00
R9791:Tfap2a	UTSW	13	40,870,658 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTCCAGGATGCATTGTTCTC -3'
(R):5'- ACAGCCTGAATCCTCTGCAC -3'

Sequencing Primer
(F):5'- CCAGGATGCATTGTTCTCAATTAC -3'
(R):5'- TGAATCCTCTGCACGCCCAG -3'

Posted On

2014-06-30