Mutagenetix > Incidental Mutation

Incidental Mutation 'R8170:Tfap2a'

634060

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

067596-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40868778-40891852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40872744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 317 (V317I)

Ref Sequence

ENSEMBL: ENSMUSP00000105822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021787] [ENSMUST00000110193]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021787
AA Change: V311I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021787
Gene: ENSMUSG00000021359
AA Change: V311I

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
AA Change: V317I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000105822
Gene: ENSMUSG00000021359
AA Change: V317I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (76/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,411,713 (GRCm39)	V595A	probably benign	Het
A430033K04Rik	A	G	5: 138,645,315 (GRCm39)	E400G	possibly damaging	Het
Abca16	C	T	7: 120,065,005 (GRCm39)	T554I	probably damaging	Het
Acadm	T	A	3: 153,650,035 (GRCm39)	R10W	possibly damaging	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef25	A	G	10: 127,023,048 (GRCm39)	W120R	probably damaging	Het
Atg7	A	T	6: 114,678,151 (GRCm39)	Q347L	probably benign	Het
Atl2	T	C	17: 80,163,690 (GRCm39)	I316V	possibly damaging	Het
B4galnt3	A	T	6: 120,183,577 (GRCm39)		probably null	Het
Baiap2l1	A	T	5: 144,214,502 (GRCm39)	Y397*	probably null	Het
Cacna1b	A	G	2: 24,568,886 (GRCm39)		probably null	Het
Capn10	T	C	1: 92,862,686 (GRCm39)	S31P	probably damaging	Het
Casp8ap2	C	T	4: 32,615,490 (GRCm39)		probably benign	Het
Ccdc122	A	T	14: 77,329,318 (GRCm39)	I124L	probably benign	Het
Ccdc90b	A	G	7: 92,210,750 (GRCm39)	S3G	probably benign	Het
Cdc14b	A	T	13: 64,363,549 (GRCm39)		probably null	Het
Chd5	T	A	4: 152,461,040 (GRCm39)	M1210K	probably benign	Het
Clec18a	T	G	8: 111,807,551 (GRCm39)	K133T	probably damaging	Het
Cog4	T	A	8: 111,592,663 (GRCm39)	M413K	probably damaging	Het
Cpa5	A	T	6: 30,624,594 (GRCm39)	I145L	probably benign	Het
Ctdspl2	T	G	2: 121,837,423 (GRCm39)	S397A	probably benign	Het
Dnah8	T	A	17: 30,892,797 (GRCm39)	I794N	probably damaging	Het
Ednrb	T	A	14: 104,060,640 (GRCm39)	T218S	possibly damaging	Het
Eif3b	T	A	5: 140,412,530 (GRCm39)		probably null	Het
Fanci	A	C	7: 79,083,305 (GRCm39)		probably null	Het
Fat2	C	T	11: 55,161,281 (GRCm39)	V3150M	probably damaging	Het
Fat3	T	C	9: 15,858,792 (GRCm39)	Y3808C	probably damaging	Het
Gabrr1	T	A	4: 33,162,718 (GRCm39)	L428Q	probably damaging	Het
Garnl3	G	C	2: 32,905,235 (GRCm39)	P488R	possibly damaging	Het
Gli3	T	C	13: 15,894,793 (GRCm39)	S656P	probably benign	Het
Gpr153	T	C	4: 152,364,634 (GRCm39)	I230T	probably damaging	Het
Hoxc6	A	G	15: 102,918,293 (GRCm39)	N86D	probably benign	Het
Iqch	T	G	9: 63,336,312 (GRCm39)	R985S	probably damaging	Het
Jun	T	A	4: 94,938,559 (GRCm39)	N317I	probably damaging	Het
Kif26a	T	G	12: 112,141,752 (GRCm39)		probably null	Het
Map4k3	T	C	17: 80,913,289 (GRCm39)	H627R	possibly damaging	Het
Misp	T	A	10: 79,662,300 (GRCm39)	I239N	probably benign	Het
Mpzl2	T	A	9: 44,955,019 (GRCm39)	V27E	probably damaging	Het
Mta3	T	C	17: 84,099,090 (GRCm39)	S385P	probably damaging	Het
Muc5b	G	A	7: 141,414,737 (GRCm39)	S2561N	unknown	Het
Myh8	A	G	11: 67,179,092 (GRCm39)	H495R	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrp5	A	T	7: 23,133,135 (GRCm39)	T927S	probably benign	Het
Nr5a2	T	A	1: 136,868,385 (GRCm39)	D310V	probably benign	Het
Nrbp1	A	G	5: 31,403,147 (GRCm39)	T207A	probably damaging	Het
Nxf1	G	T	19: 8,748,414 (GRCm39)	L14F	probably benign	Het
Or2a25	G	A	6: 42,889,125 (GRCm39)	A223T	possibly damaging	Het
Or6c207	T	A	10: 129,104,917 (GRCm39)	N92Y	possibly damaging	Het
Pcdhb15	A	G	18: 37,608,637 (GRCm39)	E623G	probably damaging	Het
Pid1	T	C	1: 84,262,721 (GRCm39)		probably null	Het
Plcb2	C	A	2: 118,541,934 (GRCm39)	R892L	possibly damaging	Het
Polr1a	C	G	6: 71,897,733 (GRCm39)	P243A	probably benign	Het
Pot1a	A	G	6: 25,758,802 (GRCm39)	*326Q	probably null	Het
Ppp5c	G	T	7: 16,741,071 (GRCm39)	F335L	probably damaging	Het
Prl8a2	T	C	13: 27,536,794 (GRCm39)	Y139H	probably benign	Het
Rogdi	G	T	16: 4,829,601 (GRCm39)	R93S	probably benign	Het
Rsph6a	C	A	7: 18,791,505 (GRCm39)	R225S	probably damaging	Het
Septin8	T	C	11: 53,428,684 (GRCm39)	S408P	possibly damaging	Het
Sf3a2	T	A	10: 80,639,131 (GRCm39)		probably null	Het
Shank3	T	C	15: 89,433,043 (GRCm39)	S1263P	possibly damaging	Het
Speer4f2	A	C	5: 17,579,459 (GRCm39)	D86A		Het
Spmip8	A	T	8: 96,046,686 (GRCm39)	I120F	probably damaging	Het
Stard9	T	C	2: 120,530,529 (GRCm39)	F2262S	possibly damaging	Het
Svep1	T	A	4: 58,069,378 (GRCm39)	I2803F	probably benign	Het
Taf1c	C	T	8: 120,329,565 (GRCm39)		probably null	Het
Tasor2	G	A	13: 3,624,881 (GRCm39)	Q1690*	probably null	Het
Thnsl2	T	C	6: 71,106,317 (GRCm39)	T370A	probably benign	Het
Tmem201	C	T	4: 149,803,177 (GRCm39)	G564S	probably benign	Het
Ttc41	A	C	10: 86,612,030 (GRCm39)	E1101A	probably damaging	Het
Ugcg	T	A	4: 59,211,974 (GRCm39)	F113L	possibly damaging	Het
Unc80	G	T	1: 66,690,692 (GRCm39)	V2456L	probably benign	Het
Vav3	A	T	3: 109,331,323 (GRCm39)	N74I	probably damaging	Het
Vmn2r25	T	A	6: 123,829,976 (GRCm39)	R58S	probably benign	Het
Wdr97	C	A	15: 76,247,819 (GRCm39)	F1614L		Het
Ylpm1	T	A	12: 85,080,801 (GRCm39)	M1499K	probably benign	Het
Zfp647	A	G	15: 76,795,571 (GRCm39)	V363A	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
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
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'- CAGTATTCACAGCAAAGCCG -3'
(R):5'- TTGCTCTCTGGATCGCACAG -3'

Sequencing Primer
(F):5'- GTATTCACAGCAAAGCCGATCAAC -3'
(R):5'- CTCTCTGGATCGCACAGAGAAG -3'

Posted On

2020-07-13