Mutagenetix > Incidental Mutation

Incidental Mutation 'R1767:Tfap2a'

194500

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 #

R1767 (G1)

Quality Score

225

Status

Not 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: 95.4%
20x: 92.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	T	C	4: 124,743,754 (GRCm39)	N128S	possibly damaging	Het
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Adgrf5	A	T	17: 43,761,455 (GRCm39)	Y1050F	possibly damaging	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Alk	T	A	17: 72,207,693 (GRCm39)	H1014L	possibly damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	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
Bmpr1a	A	G	14: 34,169,727 (GRCm39)		probably null	Het
Bpifa6	A	G	2: 153,829,147 (GRCm39)	T225A	possibly damaging	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
Cckbr	A	T	7: 105,083,758 (GRCm39)	I229F	possibly damaging	Het
Cers3	A	G	7: 66,433,151 (GRCm39)	K156R	probably damaging	Het
Chd1	T	A	17: 15,990,565 (GRCm39)	W1706R	probably damaging	Het
Col11a2	T	A	17: 34,282,869 (GRCm39)		probably benign	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
Dis3	A	T	14: 99,321,578 (GRCm39)	Y590N	probably damaging	Het
Dpy19l1	T	C	9: 24,373,880 (GRCm39)	H270R	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Focad	G	T	4: 88,275,705 (GRCm39)	V1105L	unknown	Het
Fzd1	A	G	5: 4,806,812 (GRCm39)	Y257H	probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm11938	G	A	11: 99,494,071 (GRCm39)	S8F	unknown	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
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hook3	A	G	8: 26,561,084 (GRCm39)		probably null	Het
Itpr2	T	C	6: 146,251,566 (GRCm39)	D993G	possibly damaging	Het
Jhy	T	C	9: 40,872,444 (GRCm39)	R22G	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
Krtap27-1	G	A	16: 88,468,199 (GRCm39)	S115L	probably damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	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
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12j3	T	C	7: 139,953,389 (GRCm39)	I45V	possibly damaging	Het
Or52r1	T	A	7: 102,536,833 (GRCm39)	I176F	probably damaging	Het
Or8k3b	A	G	2: 86,520,728 (GRCm39)	M197T	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	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
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Prss22	T	A	17: 24,215,331 (GRCm39)	E148D	probably benign	Het
Psg17	A	G	7: 18,550,727 (GRCm39)	V376A	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rnf26rt	A	T	6: 76,474,588 (GRCm39)	N9K	unknown	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Slco5a1	T	C	1: 13,059,839 (GRCm39)	D294G	probably damaging	Het
Slco6d1	A	G	1: 98,418,274 (GRCm39)	T487A	possibly damaging	Het
Smarcc2	A	T	10: 128,304,951 (GRCm39)	D262V	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	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
Tjp1	A	G	7: 64,962,301 (GRCm39)		probably null	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
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Usp42	A	T	5: 143,700,621 (GRCm39)	V1134E	possibly damaging	Het
Uvrag	A	G	7: 98,748,601 (GRCm39)	I117T	probably damaging	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r110	C	T	17: 20,800,840 (GRCm39)	A531T	possibly damaging	Het
Wdsub1	A	T	2: 59,689,058 (GRCm39)	I388N	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zbtb34	A	C	2: 33,301,348 (GRCm39)	S398A	possibly 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
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