Mutagenetix > Incidental Mutation

Incidental Mutation 'R8816:Tfap2b'

672709

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

068726-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8816 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19279138-19308800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19284337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 82 (S82G)

Ref Sequence

ENSEMBL: ENSMUSP00000027059 (fasta)

Gene Model

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

AlphaFold

Q61313

Predicted Effect

probably benign
Transcript: ENSMUST00000027059
AA Change: S82G

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

SMART Domains

Protein: ENSMUSP00000027059
Gene: ENSMUSG00000025927
AA Change: S82G

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 benign
Transcript: ENSMUST00000064976
AA Change: S64G

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000064488
Gene: ENSMUSG00000025927
AA Change: S64G

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

possibly damaging
Transcript: ENSMUST00000187754
AA Change: S82G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140213
Gene: ENSMUSG00000025927
AA Change: S82G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,127,513 (GRCm39)	H348L	probably benign	Het
Alpk1	A	T	3: 127,478,024 (GRCm39)	Y74*	probably null	Het
Ass1	T	C	2: 31,383,189 (GRCm39)		probably benign	Het
Atp8b4	C	T	2: 126,214,084 (GRCm39)		probably benign	Het
Atrn	C	A	2: 130,748,798 (GRCm39)	N106K	probably damaging	Het
Atrn	T	C	2: 130,846,494 (GRCm39)	V1256A	probably damaging	Het
Bicdl1	T	A	5: 115,862,804 (GRCm39)	Q150H	probably damaging	Het
Bltp3b	T	C	10: 89,626,597 (GRCm39)		probably benign	Het
Cdhr4	T	C	9: 107,872,791 (GRCm39)	V280A	possibly damaging	Het
Cfap54	C	T	10: 92,714,454 (GRCm39)	V2642I	unknown	Het
Chd2	T	C	7: 73,140,245 (GRCm39)	H661R	probably damaging	Het
Cntnap2	A	G	6: 46,833,076 (GRCm39)	D763G	possibly damaging	Het
Csnk1g2	T	C	10: 80,474,093 (GRCm39)	C160R	probably damaging	Het
Cyb5r4	T	C	9: 86,904,286 (GRCm39)	S19P	probably benign	Het
Cyp4a30b	G	A	4: 115,309,834 (GRCm39)	V12M	probably benign	Het
Dpp6	C	T	5: 27,930,711 (GRCm39)	P848S	probably benign	Het
Dzip1	T	C	14: 119,159,785 (GRCm39)	Y141C	probably benign	Het
Eif2b3	C	A	4: 116,928,052 (GRCm39)	Q424K	probably benign	Het
Fbxw14	G	A	9: 109,105,305 (GRCm39)	R287*	probably null	Het
Fcgbp	T	G	7: 27,784,412 (GRCm39)	S157R	probably benign	Het
Fmnl2	T	G	2: 53,004,214 (GRCm39)	V642G	unknown	Het
Gpr119	C	T	X: 47,762,276 (GRCm39)	R287Q	possibly damaging	Het
Grm7	C	T	6: 111,230,966 (GRCm39)	T463I	possibly damaging	Het
Haus4	G	A	14: 54,779,710 (GRCm39)	R305C	probably benign	Het
Htr1f	A	G	16: 64,746,537 (GRCm39)	S252P	probably benign	Het
Ino80b	T	C	6: 83,098,861 (GRCm39)	Q359R	probably damaging	Het
Itgad	C	A	7: 127,797,542 (GRCm39)	Y924*	probably null	Het
Itpr2	A	G	6: 146,142,710 (GRCm39)	Y1703H	probably damaging	Het
Kif5c	T	A	2: 49,584,799 (GRCm39)	V174E	probably damaging	Het
Kifc2	A	G	15: 76,548,371 (GRCm39)	E405G	probably damaging	Het
Klk1b3	T	C	7: 43,851,668 (GRCm39)	V242A	possibly damaging	Het
Kndc1	T	C	7: 139,517,909 (GRCm39)	F1615S	probably damaging	Het
Lmtk2	T	A	5: 144,112,793 (GRCm39)	L1171*	probably null	Het
Myh10	A	G	11: 68,693,778 (GRCm39)	E1530G	probably damaging	Het
Nav3	T	A	10: 109,699,721 (GRCm39)	S258C	possibly damaging	Het
Nudcd3	C	T	11: 6,100,587 (GRCm39)	G186S	probably damaging	Het
Or9s15	T	A	1: 92,524,768 (GRCm39)	C176S	probably damaging	Het
Otog	C	T	7: 45,950,905 (GRCm39)	S374F	possibly damaging	Het
P2ry2	T	A	7: 100,647,763 (GRCm39)	I181F	possibly damaging	Het
Pde11a	T	C	2: 76,121,577 (GRCm39)	I335V	probably benign	Het
Phyhip	A	C	14: 70,704,375 (GRCm39)	D198A	probably damaging	Het
Pik3r5	A	T	11: 68,385,060 (GRCm39)	Y655F	probably damaging	Het
Rab6a	T	C	7: 100,279,145 (GRCm39)	I95T	possibly damaging	Het
Sgsm1	T	C	5: 113,435,097 (GRCm39)	E99G	probably damaging	Het
Skint10	A	T	4: 112,603,892 (GRCm39)	F98L	probably benign	Het
Slc35c2	A	G	2: 165,119,378 (GRCm39)	S321P	probably benign	Het
Smyd1	T	A	6: 71,192,868 (GRCm39)	E447V	probably damaging	Het
Smyd4	T	C	11: 75,281,232 (GRCm39)	V235A	probably benign	Het
Sod2	A	G	17: 13,227,253 (GRCm39)	Y69C	probably benign	Het
Spns1	G	A	7: 125,971,593 (GRCm39)	S319F	possibly damaging	Het
Tln2	C	A	9: 67,128,693 (GRCm39)	E1465D	possibly damaging	Het
Tln2	A	G	9: 67,128,799 (GRCm39)	I1430T	probably damaging	Het
Trio	G	T	15: 27,741,357 (GRCm39)	N2680K	probably damaging	Het
Trmt10c	A	T	16: 55,854,522 (GRCm39)	V371D	probably damaging	Het
Trpm3	T	C	19: 22,965,580 (GRCm39)	S1692P	probably damaging	Het
Usb1	G	T	8: 96,071,984 (GRCm39)	C228F	probably benign	Het
Veph1	G	T	3: 66,065,646 (GRCm39)	H474N	probably benign	Het
Wls	A	G	3: 159,639,928 (GRCm39)	T520A	possibly damaging	Het
Ywhae	T	C	11: 75,623,878 (GRCm39)	Y9H	probably damaging	Het
Zranb3	C	T	1: 127,964,347 (GRCm39)	V127M	possibly damaging	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
R7824: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
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'- CTCTCTCGCCTCCCAGGA -3'
(R):5'- CCGGTTCTAAAGATGACAACTCC -3'

Sequencing Primer
(F):5'- CCTCCCAGGACCGGCAC -3'
(R):5'- ACAGAGTGGTAGTCCCTTCG -3'

Posted On

2021-04-30