Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4366001:Tfap2a'

554786

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 #

PIT4366001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40868778-40891852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40874850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 254 (N254D)

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

possibly damaging
Transcript: ENSMUST00000021787
AA Change: N254D

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021787
Gene: ENSMUSG00000021359
AA Change: N254D

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: N260D

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

SMART Domains

Protein: ENSMUSP00000105822
Gene: ENSMUSG00000021359
AA Change: N260D

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 damaging
Transcript: ENSMUST00000223869
AA Change: N256D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224665
AA Change: N262D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224999
AA Change: N262D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000225180
AA Change: N289D

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

Coding Region Coverage

1x: 93.0%
3x: 90.7%
10x: 85.5%
20x: 73.8%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	A	11: 119,901,786 (GRCm39)	S870I	possibly damaging	Het
Abca13	T	C	11: 9,244,962 (GRCm39)	V2275A	probably benign	Het
Abcb5	T	C	12: 118,899,833 (GRCm39)	K278R	probably damaging	Het
Adcy2	TA	TAA	13: 68,858,109 (GRCm39)		probably benign	Het
Add3	C	T	19: 53,205,298 (GRCm39)	P16L	unknown	Het
Akap9	T	A	5: 4,096,221 (GRCm39)	D2365E	probably benign	Het
Asah1	A	G	8: 41,796,783 (GRCm39)	S300P	possibly damaging	Het
Astn1	A	T	1: 158,424,779 (GRCm39)	H655L	probably benign	Het
Astn1	A	T	1: 158,424,781 (GRCm39)	I656F	probably benign	Het
Bmpr1b	T	A	3: 141,586,224 (GRCm39)	T13S	probably benign	Het
Camsap2	A	G	1: 136,208,055 (GRCm39)	F478L		Het
Card10	G	A	15: 78,671,631 (GRCm39)	S611L	probably benign	Het
Cep68	T	C	11: 20,190,007 (GRCm39)	N335S	probably benign	Het
Chac1	T	C	2: 119,181,986 (GRCm39)	W35R	probably damaging	Het
Cntn6	T	C	6: 104,809,498 (GRCm39)	V511A	probably benign	Het
Cpne9	G	T	6: 113,271,707 (GRCm39)	G356W	probably damaging	Het
Dnah10	C	A	5: 124,852,588 (GRCm39)	T1939K	possibly damaging	Het
Dock10	T	C	1: 80,573,438 (GRCm39)	N239D	probably benign	Het
Dock5	T	C	14: 68,062,123 (GRCm39)	K415R	possibly damaging	Het
Dtd2	C	A	12: 52,046,582 (GRCm39)	D86Y	probably damaging	Het
Efcab9	A	G	11: 32,473,608 (GRCm39)	F127S	probably damaging	Het
Ermp1	T	C	19: 29,606,189 (GRCm39)	H375R	probably benign	Het
Frem2	A	T	3: 53,560,622 (GRCm39)	M1295K	probably damaging	Het
Gbp7	T	G	3: 142,248,712 (GRCm39)	I325R	probably benign	Het
Gpr179	T	C	11: 97,227,677 (GRCm39)	K1493E	probably benign	Het
Gucy2g	T	A	19: 55,226,214 (GRCm39)	E234V	probably null	Het
Itpr1	T	A	6: 108,470,718 (GRCm39)	C2215*	probably null	Het
Ltn1	G	A	16: 87,177,728 (GRCm39)	R1634*	probably null	Het
Lynx1	A	T	15: 74,623,258 (GRCm39)	M58K	possibly damaging	Het
Macc1	T	C	12: 119,410,684 (GRCm39)	V484A	probably benign	Het
Map3k9	C	T	12: 81,819,535 (GRCm39)	V240M	possibly damaging	Het
Mars1	A	G	10: 127,135,267 (GRCm39)	M608T	possibly damaging	Het
Mc2r	T	C	18: 68,540,826 (GRCm39)	M156V	probably benign	Het
Mchr1	G	T	15: 81,121,417 (GRCm39)	V56L	probably benign	Het
Mlxip	C	T	5: 123,533,173 (GRCm39)	P61S	probably benign	Het
Mtarc1	A	G	1: 184,539,383 (GRCm39)	F96S	probably benign	Het
Muc4	A	G	16: 32,575,542 (GRCm39)	T1557A	unknown	Het
Myt1	T	C	2: 181,467,731 (GRCm39)	V1135A	probably damaging	Het
Ndufaf6	A	T	4: 11,073,215 (GRCm39)	S76T	probably benign	Het
Ntrk2	A	G	13: 59,208,149 (GRCm39)	Y665C	probably damaging	Het
Oaz3	T	G	3: 94,340,901 (GRCm39)	R215S	unknown	Het
Or10x1	T	C	1: 174,196,656 (GRCm39)	Y58H	probably damaging	Het
Or5m10b	T	C	2: 85,699,226 (GRCm39)	C97R	probably damaging	Het
Or5m8	A	T	2: 85,822,385 (GRCm39)	N75Y	probably damaging	Het
Or5w1b	C	T	2: 87,475,534 (GRCm39)	W311*	probably null	Het
Perm1	G	T	4: 156,303,192 (GRCm39)	V579L	probably benign	Het
Phyhipl	A	G	10: 70,404,788 (GRCm39)	V140A	probably benign	Het
Pip5k1c	T	A	10: 81,144,842 (GRCm39)	S228T	probably damaging	Het
Plekhn1	T	G	4: 156,309,268 (GRCm39)	T213P	probably damaging	Het
Pomt2	A	T	12: 87,163,303 (GRCm39)		probably null	Het
Ptcd1	A	G	5: 145,088,145 (GRCm39)	V622A	probably benign	Het
Ptn	T	A	6: 36,718,284 (GRCm39)	H127L	probably benign	Het
Ptprk	A	T	10: 28,462,015 (GRCm39)	M1193L	probably benign	Het
Ptpru	G	A	4: 131,527,023 (GRCm39)	P650S	probably benign	Het
Pum2	T	A	12: 8,783,390 (GRCm39)	L613Q	probably damaging	Het
Rapgef6	A	G	11: 54,582,446 (GRCm39)	T1458A	probably damaging	Het
Sap130	C	T	18: 31,810,462 (GRCm39)	A470V	probably benign	Het
Sertad2	C	A	11: 20,598,116 (GRCm39)	P104Q	probably benign	Het
Sfrp4	A	T	13: 19,814,414 (GRCm39)	M324L	unknown	Het
Sh3bp4	A	G	1: 89,073,156 (GRCm39)	N668S	probably benign	Het
Snx30	C	A	4: 59,894,653 (GRCm39)	D410E	probably benign	Het
Spata31	C	A	13: 65,069,319 (GRCm39)	S489*	probably null	Het
Taok3	T	A	5: 117,366,050 (GRCm39)	M367K	probably benign	Het
Tgtp1	T	G	11: 48,877,867 (GRCm39)	L279F	possibly damaging	Het
Tmpo	A	G	10: 90,999,172 (GRCm39)	F205S	probably damaging	Het
Tmprss5	A	T	9: 49,023,517 (GRCm39)	I218L	probably benign	Het
Tti2	A	G	8: 31,641,224 (GRCm39)	E116G	probably benign	Het
Vmn2r59	A	T	7: 41,695,205 (GRCm39)	N402K	possibly damaging	Het

Other mutations in Tfap2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- CATGGAAAAGTGAAGCCACC -3'
(R):5'- ACCTGCCACAATAGTTGCAATG -3'

Sequencing Primer
(F):5'- ATCTGGCTACTAAATATTATCCACCC -3'
(R):5'- AGTTGCAATGACAACTATGCC -3'

Posted On

2019-06-07