Mutagenetix > Incidental Mutation

Incidental Mutation 'R7824:Tfap2b'

602046

Institutional Source

Beutler Lab

Gene Symbol

Tfap2b

Ensembl Gene

ENSMUSG00000025927

Gene Name

transcription factor AP-2 beta

Synonyms

Tcfap2b, E130018K07Rik, AP-2(beta)

MMRRC Submission

045878-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19279138-19308800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19304531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 447 (G447D)

Ref Sequence

ENSEMBL: ENSMUSP00000027059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027059] [ENSMUST00000064976] [ENSMUST00000187754]

AlphaFold

Q61313

Predicted Effect

probably damaging
Transcript: ENSMUST00000027059
AA Change: G447D

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027059
Gene: ENSMUSG00000025927
AA Change: G447D

Domain	Start	End	E-Value	Type
low complexity region	61	83	N/A	INTRINSIC
low complexity region	121	132	N/A	INTRINSIC
low complexity region	196	210	N/A	INTRINSIC
Pfam:TF_AP-2	228	428	7.1e-94	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000064976
AA Change: G429D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064488
Gene: ENSMUSG00000025927
AA Change: G429D

Domain	Start	End	E-Value	Type
low complexity region	43	65	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
low complexity region	178	192	N/A	INTRINSIC
Pfam:TF_AP-2	208	415	2.2e-100	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000187754

SMART Domains

Protein: ENSMUSP00000140213
Gene: ENSMUSG00000025927

Domain	Start	End	E-Value	Type
low complexity region	61	83	N/A	INTRINSIC
low complexity region	121	132	N/A	INTRINSIC
low complexity region	196	210	N/A	INTRINSIC
Pfam:TF_AP-2	226	433	2.2e-101	PFAM

Meta Mutation Damage Score

0.0612

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes have kidney cysts and show neonatal or postnatal lethality, depending on strain background. On a congenic 129P2 background, mice have tremors, polydactyly, defective tubular secretory function and ion homeostasis, hypocalcemia, hyperphosphatemia, hyperuremia, and terminal renal failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7a	T	C	15: 77,273,275 (GRCm39)	R396G	probably damaging	Het
Arhgap40	A	T	2: 158,376,666 (GRCm39)	R267S	probably damaging	Het
Asb5	A	C	8: 55,037,827 (GRCm39)	H173P		Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Bub1b	T	G	2: 118,457,448 (GRCm39)		probably null	Het
Capn7	A	G	14: 31,074,367 (GRCm39)	T257A	probably benign	Het
Chrna6	T	C	8: 27,897,392 (GRCm39)	I162V	probably damaging	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Ddx11	T	C	17: 66,437,543 (GRCm39)		probably null	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Farsb	T	C	1: 78,445,936 (GRCm39)	N148D	probably benign	Het
Fmnl2	C	T	2: 52,963,692 (GRCm39)	L275F	unknown	Het
Gfpt2	T	G	11: 49,715,268 (GRCm39)	I421R	probably damaging	Het
Gm8297	A	G	14: 16,167,939 (GRCm39)	N193S	possibly damaging	Het
Hic1	C	T	11: 75,057,042 (GRCm39)	V616M	possibly damaging	Het
Ica1l	T	G	1: 60,047,029 (GRCm39)	M241L	probably benign	Het
Ighg3	A	T	12: 113,323,426 (GRCm39)	D283E		Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Ism2	A	C	12: 87,326,634 (GRCm39)	V435G	probably damaging	Het
Klhdc2	A	G	12: 69,354,002 (GRCm39)	H271R	probably damaging	Het
Lama1	T	A	17: 68,111,468 (GRCm39)	S2240T		Het
Lrp2	T	A	2: 69,331,883 (GRCm39)	E1624V	possibly damaging	Het
Map3k21	C	G	8: 126,637,702 (GRCm39)	P96R	probably benign	Het
Mfge8	G	T	7: 78,795,135 (GRCm39)		probably null	Het
Mical2	T	A	7: 112,006,844 (GRCm39)	Y588N	probably damaging	Het
Mrps15	A	T	4: 125,945,170 (GRCm39)	N119I	probably damaging	Het
Mybpc2	G	A	7: 44,154,284 (GRCm39)		probably null	Het
Myo9a	T	A	9: 59,767,392 (GRCm39)	H865Q	probably damaging	Het
Odf4	A	T	11: 68,812,898 (GRCm39)	S253R	probably benign	Het
Or6c5c	A	G	10: 129,298,665 (GRCm39)	N40S	probably damaging	Het
Ovch2	A	G	7: 107,388,295 (GRCm39)		probably null	Het
Pax8	A	G	2: 24,325,913 (GRCm39)	S324P	possibly damaging	Het
Plau	A	G	14: 20,892,393 (GRCm39)	S393G	probably benign	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Rapgefl1	A	G	11: 98,741,980 (GRCm39)	N648S	probably damaging	Het
Rin2	T	A	2: 145,703,037 (GRCm39)	S533T	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Setd6	A	T	8: 96,442,866 (GRCm39)	H101L	probably benign	Het
Sez6	T	C	11: 77,865,375 (GRCm39)	S671P	probably damaging	Het
Slc22a3	G	T	17: 12,683,350 (GRCm39)	A171E	probably damaging	Het
Son	T	C	16: 91,453,416 (GRCm39)	L721S	probably damaging	Het
Spata31d1b	A	T	13: 59,865,047 (GRCm39)	R732W	possibly damaging	Het
Speg	T	A	1: 75,360,661 (GRCm39)		probably null	Het
Srd5a3	T	A	5: 76,302,618 (GRCm39)	F328I	probably damaging	Het
Tbc1d2	C	T	4: 46,637,746 (GRCm39)		probably null	Het
Thoc3	A	C	13: 54,611,591 (GRCm39)	F232C	probably damaging	Het
Togaram2	T	A	17: 72,011,746 (GRCm39)	M476K	probably benign	Het
Tpgs2	G	T	18: 25,262,922 (GRCm39)	F232L	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Tube1	A	G	10: 39,018,294 (GRCm39)	I124V	probably benign	Het
Ubr5	A	T	15: 37,991,566 (GRCm39)	H1992Q	probably damaging	Het
Utrn	G	A	10: 12,362,354 (GRCm39)	R2660C	probably damaging	Het
Vcan	T	C	13: 89,836,773 (GRCm39)	T2924A	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Vwf	A	G	6: 125,635,778 (GRCm39)	K270E		Het
Zfp874b	A	G	13: 67,622,093 (GRCm39)	F402L	probably benign	Het

Other mutations in Tfap2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Tfap2b	APN	1	19,284,250 (GRCm39)	missense	possibly damaging	0.94
IGL01868:Tfap2b	APN	1	19,284,506 (GRCm39)	missense	probably damaging	0.98
IGL02408:Tfap2b	APN	1	19,304,485 (GRCm39)	missense	probably damaging	0.99
IGL02412:Tfap2b	APN	1	19,289,427 (GRCm39)	missense	probably damaging	0.99
R0243:Tfap2b	UTSW	1	19,304,347 (GRCm39)	missense	probably damaging	1.00
R0552:Tfap2b	UTSW	1	19,304,449 (GRCm39)	missense	probably damaging	1.00
R1077:Tfap2b	UTSW	1	19,304,373 (GRCm39)	nonsense	probably null
R1541:Tfap2b	UTSW	1	19,304,294 (GRCm39)	missense	probably damaging	1.00
R1816:Tfap2b	UTSW	1	19,279,436 (GRCm39)	missense	probably damaging	0.98
R2474:Tfap2b	UTSW	1	19,284,599 (GRCm39)	missense	possibly damaging	0.49
R5019:Tfap2b	UTSW	1	19,296,666 (GRCm39)	missense	probably benign	0.31
R5300:Tfap2b	UTSW	1	19,298,677 (GRCm39)	missense	probably damaging	1.00
R5331:Tfap2b	UTSW	1	19,296,722 (GRCm39)	missense	probably benign
R5383:Tfap2b	UTSW	1	19,296,722 (GRCm39)	missense	probably benign
R5541:Tfap2b	UTSW	1	19,284,250 (GRCm39)	missense	possibly damaging	0.94
R5744:Tfap2b	UTSW	1	19,289,445 (GRCm39)	missense	probably benign	0.15
R7239:Tfap2b	UTSW	1	19,304,404 (GRCm39)	missense	probably damaging	1.00
R7684:Tfap2b	UTSW	1	19,284,511 (GRCm39)	missense	probably damaging	1.00
R7686:Tfap2b	UTSW	1	19,284,511 (GRCm39)	missense	probably damaging	1.00
R7775:Tfap2b	UTSW	1	19,304,531 (GRCm39)	missense	probably damaging	0.98
R7778:Tfap2b	UTSW	1	19,304,531 (GRCm39)	missense	probably damaging	0.98
R8305:Tfap2b	UTSW	1	19,296,660 (GRCm39)	missense	possibly damaging	0.80
R8816:Tfap2b	UTSW	1	19,284,337 (GRCm39)	missense	probably benign	0.00
R9040:Tfap2b	UTSW	1	19,304,314 (GRCm39)	missense	probably damaging	1.00
R9223:Tfap2b	UTSW	1	19,282,649 (GRCm39)	critical splice donor site	probably null
R9629:Tfap2b	UTSW	1	19,289,468 (GRCm39)	missense	probably damaging	1.00
R9715:Tfap2b	UTSW	1	19,284,373 (GRCm39)	missense	probably damaging	0.96
X0026:Tfap2b	UTSW	1	19,296,774 (GRCm39)	missense	probably damaging	1.00
Z1176:Tfap2b	UTSW	1	19,304,357 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GCATCCAAAGCTGTCTCACG -3'
(R):5'- GTTGCTCCGTTGTATGCCTCAG -3'

Sequencing Primer
(F):5'- AAGCTGTCTCACGCACTTCAG -3'
(R):5'- GCCAATCCAATATGTTAAAGCTA -3'

Posted On

2019-12-03