Mutagenetix > Incidental Mutation

Incidental Mutation 'R7140:Tfap2a'

553421

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40868778-40891852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40883523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 7 (S7P)

Ref Sequence

ENSEMBL: ENSMUSP00000021787 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021787
AA Change: S7P

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021787
Gene: ENSMUSG00000021359
AA Change: S7P

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 benign
Transcript: ENSMUST00000110193

SMART Domains

Protein: ENSMUSP00000105822
Gene: ENSMUSG00000021359

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

probably benign
Transcript: ENSMUST00000223869

Predicted Effect

probably benign
Transcript: ENSMUST00000224665

Predicted Effect

probably benign
Transcript: ENSMUST00000224999

Predicted Effect

probably benign
Transcript: ENSMUST00000225180

Meta Mutation Damage Score

0.0794

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	T	C	8: 27,610,929 (GRCm39)		probably null	Het
Ap2a2	G	A	7: 141,178,777 (GRCm39)	A148T	probably benign	Het
Arhgef3	A	T	14: 27,123,664 (GRCm39)	N442Y	probably damaging	Het
B3gat3	A	G	19: 8,903,216 (GRCm39)	Y191C	probably damaging	Het
B430306N03Rik	A	T	17: 48,629,483 (GRCm39)	K203*	probably null	Het
C1qtnf6	T	A	15: 78,409,283 (GRCm39)	Y188F	probably benign	Het
Capn10	T	C	1: 92,872,993 (GRCm39)	V573A	possibly damaging	Het
Cbx4	T	C	11: 118,972,754 (GRCm39)	Y207C	probably damaging	Het
Ccdc43	G	T	11: 102,579,695 (GRCm39)		probably null	Het
Ccng2	C	A	5: 93,416,614 (GRCm39)	P45Q	probably benign	Het
Cd86	T	C	16: 36,441,263 (GRCm39)	H68R	probably benign	Het
Cmtm4	A	G	8: 105,081,827 (GRCm39)	Y187H	probably damaging	Het
Cst11	T	C	2: 148,610,649 (GRCm39)	N134S	probably benign	Het
Cyp3a25	A	T	5: 145,939,855 (GRCm39)	F51I	probably benign	Het
Dnhd1	A	G	7: 105,342,973 (GRCm39)	E1439G	probably benign	Het
Dock4	T	C	12: 40,686,158 (GRCm39)	V131A	probably benign	Het
Dpysl2	A	G	14: 67,099,982 (GRCm39)	S85P	probably benign	Het
Dync1i2	A	G	2: 71,078,283 (GRCm39)	H324R	probably benign	Het
Elf1	A	G	14: 79,804,710 (GRCm39)	D162G	probably benign	Het
Eri3	G	A	4: 117,506,604 (GRCm39)		probably null	Het
Fbxl21	T	C	13: 56,680,145 (GRCm39)	S203P	probably damaging	Het
Foxi1	G	A	11: 34,155,758 (GRCm39)	R291C	probably damaging	Het
Gprin3	C	T	6: 59,332,128 (GRCm39)	A60T	possibly damaging	Het
Hecw1	A	G	13: 14,491,118 (GRCm39)	C212R	probably benign	Het
Hivep3	T	C	4: 119,954,318 (GRCm39)	L878P	probably damaging	Het
Hs6st3	A	T	14: 119,376,514 (GRCm39)	N230Y	probably damaging	Het
Htr3b	A	G	9: 48,848,441 (GRCm39)	V268A	possibly damaging	Het
Ip6k3	T	C	17: 27,363,969 (GRCm39)	T360A	probably damaging	Het
Izumo1	A	G	7: 45,275,536 (GRCm39)	T282A	probably benign	Het
Kidins220	T	A	12: 25,086,623 (GRCm39)	I1019N	probably damaging	Het
Med13l	T	C	5: 118,880,037 (GRCm39)	V1043A	probably benign	Het
Mon2	C	T	10: 122,871,358 (GRCm39)	V420I	probably benign	Het
Naip6	T	A	13: 100,436,708 (GRCm39)	Y605F	possibly damaging	Het
Nek7	A	G	1: 138,414,793 (GRCm39)	I285T	probably benign	Het
Notch3	A	G	17: 32,375,351 (GRCm39)	V357A	possibly damaging	Het
Nrxn1	G	A	17: 91,396,192 (GRCm39)		probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or2w4	C	T	13: 21,795,297 (GRCm39)	V281M	possibly damaging	Het
Or4a67	G	A	2: 88,598,308 (GRCm39)	A117V	probably damaging	Het
Or5g9	T	A	2: 85,551,818 (GRCm39)	L23Q	probably damaging	Het
Or6c74	T	G	10: 129,870,083 (GRCm39)	M196R	possibly damaging	Het
Ostm1	C	T	10: 42,559,268 (GRCm39)	A176V	probably null	Het
Pabpc6	C	A	17: 9,887,357 (GRCm39)	S398I	possibly damaging	Het
Pcdhac2	C	A	18: 37,277,239 (GRCm39)	P73H	possibly damaging	Het
Pcdhga9	A	G	18: 37,872,184 (GRCm39)	D671G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigu	A	C	2: 155,143,160 (GRCm39)	L248R	possibly damaging	Het
Pinx1	C	A	14: 64,097,834 (GRCm39)		probably null	Het
Pon3	T	C	6: 5,221,664 (GRCm39)	N322S	possibly damaging	Het
Pramel23	T	G	4: 143,425,002 (GRCm39)	H147P	probably benign	Het
Rnft1	A	G	11: 86,382,586 (GRCm39)	I270V	probably benign	Het
Scgb2b11	A	G	7: 31,910,006 (GRCm39)	F27L	probably damaging	Het
Slc5a4b	C	T	10: 75,910,943 (GRCm39)	V298I	probably damaging	Het
Slco1a6	T	A	6: 142,048,745 (GRCm39)	H345L	probably benign	Het
Sox1	C	T	8: 12,447,405 (GRCm39)	P349S	possibly damaging	Het
Spata31	A	G	13: 65,068,913 (GRCm39)	N354D	probably benign	Het
Speg	T	C	1: 75,383,414 (GRCm39)		probably null	Het
Stpg1	T	C	4: 135,261,033 (GRCm39)	I281T	probably benign	Het
Sult3a1	T	C	10: 33,753,283 (GRCm39)	L193P	probably damaging	Het
Tenm3	A	T	8: 48,745,271 (GRCm39)	C1097S	probably damaging	Het
Tlr1	T	C	5: 65,083,021 (GRCm39)	I519V	probably benign	Het
Tmem238	A	G	7: 4,792,072 (GRCm39)	V157A	possibly damaging	Het
Tmem45b	A	T	9: 31,345,780 (GRCm39)		probably null	Het
Togaram2	A	T	17: 72,021,761 (GRCm39)	H742L	probably benign	Het
Trpc7	A	T	13: 56,937,487 (GRCm39)	Y656*	probably null	Het
Wdr35	T	A	12: 9,072,785 (GRCm39)	Y920N	probably damaging	Het
Xab2	G	A	8: 3,668,117 (GRCm39)	R154C	possibly damaging	Het
Zfp759	A	T	13: 67,288,177 (GRCm39)	H576L	possibly damaging	Het
Zfp958	G	T	8: 4,678,481 (GRCm39)	A169S	probably benign	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
R1865:Tfap2a	UTSW	13	40,881,884 (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
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'- CTCTGGAGCAAGTAAAGACGC -3'
(R):5'- ACTCGGTGGTACAAGTTCGG -3'

Sequencing Primer
(F):5'- CGAACCCGGCGAGAAACTG -3'
(R):5'- GGTACAAGTTCGGATGGATCC -3'

Posted On

2019-05-15