Mutagenetix > Incidental Mutation

Incidental Mutation 'R1751:Tfap2a'

193539

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

039783-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40868778-40891852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40878613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 204 (I204N)

Ref Sequence

ENSEMBL: ENSMUSP00000153271 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000021787
AA Change: I169N

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

SMART Domains

Protein: ENSMUSP00000021787
Gene: ENSMUSG00000021359
AA Change: I169N

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: I175N

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

SMART Domains

Protein: ENSMUSP00000105822
Gene: ENSMUSG00000021359
AA Change: I175N

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: I171N

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: ENSMUST00000224999
AA Change: I177N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224665
AA Change: I177N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000225180
AA Change: I204N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224700

Meta Mutation Damage Score

0.5284

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

99% (85/86)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
AU040320	G	A	4: 126,734,517 (GRCm39)	G713D	probably damaging	Het
Bank1	G	T	3: 135,940,375 (GRCm39)	R203S	probably benign	Het
Bank1	A	G	3: 135,960,698 (GRCm39)	V53A	probably benign	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Ccdc40	T	A	11: 119,121,522 (GRCm39)		probably null	Het
Cdc5l	A	T	17: 45,718,731 (GRCm39)	D628E	probably benign	Het
Chd3	G	A	11: 69,244,727 (GRCm39)		probably benign	Het
Clstn3	A	T	6: 124,408,958 (GRCm39)	W860R	probably damaging	Het
Cntn4	G	A	6: 106,595,371 (GRCm39)		probably null	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Cyp2b9	T	C	7: 25,886,100 (GRCm39)	V89A	probably benign	Het
Depdc1a	T	C	3: 159,228,924 (GRCm39)	C559R	probably damaging	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Fzd8	C	T	18: 9,213,643 (GRCm39)	R242C	probably damaging	Het
Gart	A	C	16: 91,439,837 (GRCm39)		probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm5519	T	C	19: 33,802,391 (GRCm39)	Y145H	possibly damaging	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gnas	T	A	2: 174,139,687 (GRCm39)		probably benign	Het
Greb1	A	G	12: 16,773,439 (GRCm39)		probably benign	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gucy2c	A	T	6: 136,725,773 (GRCm39)		probably benign	Het
Igf2r	A	C	17: 12,916,328 (GRCm39)	S1677A	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,469 (GRCm39)	L1274P	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrp6	A	G	6: 134,441,531 (GRCm39)	L1145S	probably damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Nol8	A	T	13: 49,820,884 (GRCm39)	T914S	probably benign	Het
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12d17	A	T	17: 37,777,792 (GRCm39)	M232L	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pcp4	A	C	16: 96,326,689 (GRCm39)	Q290P	probably damaging	Het
Pdlim1	C	T	19: 40,240,348 (GRCm39)		probably benign	Het
Pias3	T	C	3: 96,608,719 (GRCm39)	S228P	probably damaging	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Pik3c2a	A	C	7: 115,945,471 (GRCm39)	V1445G	probably damaging	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Plxnc1	A	G	10: 94,685,677 (GRCm39)		probably benign	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rfx2	A	G	17: 57,091,754 (GRCm39)	V313A	probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Sbpl	A	G	17: 24,173,777 (GRCm39)		probably null	Het
Scg3	G	A	9: 75,576,622 (GRCm39)	T251M	probably damaging	Het
Setbp1	T	C	18: 78,900,613 (GRCm39)	D1018G	probably damaging	Het
Slc38a11	T	A	2: 65,180,452 (GRCm39)	I182F	probably benign	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Smarca2	T	C	19: 26,617,780 (GRCm39)		probably benign	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Stox1	T	C	10: 62,495,445 (GRCm39)	T943A	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfip11	T	A	5: 112,482,298 (GRCm39)	W519R	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Trpc7	T	A	13: 56,923,956 (GRCm39)	D743V	probably damaging	Het
Trrap	T	C	5: 144,751,385 (GRCm39)		probably null	Het
Tsc1	A	G	2: 28,566,038 (GRCm39)	I485V	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Tsr3	T	C	17: 25,461,613 (GRCm39)	I317T	possibly damaging	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r108	A	T	17: 20,682,786 (GRCm39)	V806E	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zfp108	C	A	7: 23,961,321 (GRCm39)	H637Q	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
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'- TGAACCCTCATGGCCTTTAACTGC -3'
(R):5'- TGCTGAAAGGTGGCACACTAAAGC -3'

Sequencing Primer
(F):5'- AGCCTGTTGCCATTATCAAGG -3'
(R):5'- GGTGCATTTCTAAAGGTCGAAC -3'

Posted On

2014-05-23