Mutagenetix > Incidental Mutation

Incidental Mutation 'R8305:Tfap2b'

640972

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

067716-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19279138-19308800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19296660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 201 (V201A)

Ref Sequence

ENSEMBL: ENSMUSP00000027059 (fasta)

Gene Model

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

AlphaFold

Q61313

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027059
AA Change: V201A

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027059
Gene: ENSMUSG00000025927
AA Change: V201A

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: V183A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000064488
Gene: ENSMUSG00000025927
AA Change: V183A

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 benign
Transcript: ENSMUST00000187754
AA Change: V201A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140213
Gene: ENSMUSG00000025927
AA Change: V201A

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: 99.6%
20x: 98.9%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,208,844 (GRCm39)	E243K	possibly damaging	Het
Accsl	A	T	2: 93,696,423 (GRCm39)	H58Q	probably benign	Het
Actl7a	T	A	4: 56,743,744 (GRCm39)	F90L	probably benign	Het
Adam5	G	A	8: 25,300,719 (GRCm39)	A270V	possibly damaging	Het
Angptl3	A	G	4: 98,919,548 (GRCm39)	T103A	probably damaging	Het
Ankhd1	T	C	18: 36,780,219 (GRCm39)	L1757P	possibly damaging	Het
Apoa4	T	A	9: 46,152,453 (GRCm39)	M1K	probably null	Het
Arih1	T	A	9: 59,303,770 (GRCm39)	Q445L	probably benign	Het
Asb14	A	T	14: 26,634,054 (GRCm39)	I420L	probably benign	Het
Bbs2	A	C	8: 94,800,953 (GRCm39)	V626G	probably damaging	Het
Cep290	C	A	10: 100,380,796 (GRCm39)	A1678D	probably benign	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Clca3a1	C	T	3: 144,464,927 (GRCm39)		probably benign	Het
Clca3b	T	A	3: 144,531,698 (GRCm39)	N702I	probably damaging	Het
Col24a1	T	C	3: 145,179,937 (GRCm39)	V1143A	probably benign	Het
Cux1	T	C	5: 136,388,863 (GRCm39)	T223A	probably benign	Het
Defa30	A	T	8: 21,625,475 (GRCm39)	T80S	probably benign	Het
Dennd1a	G	A	2: 37,748,093 (GRCm39)	L375F	probably damaging	Het
Dnajc6	C	T	4: 101,480,984 (GRCm39)	T675I	probably damaging	Het
Emc9	A	G	14: 55,822,556 (GRCm39)	V4A	probably damaging	Het
Enpp3	C	G	10: 24,700,827 (GRCm39)		probably null	Het
Fam117b	A	G	1: 59,952,782 (GRCm39)	T154A	probably benign	Het
Filip1	G	T	9: 79,727,757 (GRCm39)	Y287*	probably null	Het
Flt3	T	C	5: 147,284,864 (GRCm39)	D751G	probably damaging	Het
Frem1	T	A	4: 82,918,226 (GRCm39)	Q572L	probably benign	Het
Gja10	G	A	4: 32,602,441 (GRCm39)		probably benign	Het
Gm39115	A	G	7: 141,689,360 (GRCm39)	C138R	unknown	Het
Gm7356	T	A	17: 14,221,699 (GRCm39)	Y110F	probably benign	Het
Igf2r	T	C	17: 12,952,747 (GRCm39)	K233R	probably benign	Het
Igkv9-129	A	T	6: 67,817,206 (GRCm39)	E103D	probably benign	Het
Igsf11	C	A	16: 38,827,586 (GRCm39)	T48N	probably damaging	Het
Itpkc	A	T	7: 26,913,944 (GRCm39)	Y506N	probably damaging	Het
Kat2a	A	C	11: 100,600,304 (GRCm39)	M357R	possibly damaging	Het
Kbtbd12	T	C	6: 88,595,132 (GRCm39)	R233G	possibly damaging	Het
Kcnd2	T	A	6: 21,726,197 (GRCm39)	C563*	probably null	Het
Kcnu1	T	C	8: 26,382,018 (GRCm39)	V456A	probably benign	Het
Kif24	A	G	4: 41,428,825 (GRCm39)	V45A	probably damaging	Het
Macf1	A	T	4: 123,289,414 (GRCm39)		probably benign	Het
Map3k19	T	A	1: 127,745,007 (GRCm39)	E1177D		Het
Mdn1	G	T	4: 32,725,107 (GRCm39)	L2575F	probably benign	Het
Mga	T	A	2: 119,776,800 (GRCm39)	M1569K	possibly damaging	Het
Mvk	T	C	5: 114,588,840 (GRCm39)	Y161H	probably damaging	Het
Or10al3	T	A	17: 38,012,389 (GRCm39)	M276K	probably benign	Het
Or14c44	G	T	7: 86,061,987 (GRCm39)	C139F	probably damaging	Het
Or2n1	C	A	17: 38,486,464 (GRCm39)	T163K	probably damaging	Het
Pcdhb14	T	A	18: 37,583,075 (GRCm39)	V727E	possibly damaging	Het
Pcsk7	T	G	9: 45,821,707 (GRCm39)	V167G	probably damaging	Het
Plin5	T	C	17: 56,422,221 (GRCm39)	D146G	probably benign	Het
Plxna4	C	T	6: 32,188,000 (GRCm39)	G879R	possibly damaging	Het
Prss58	C	T	6: 40,872,594 (GRCm39)	A171T	probably benign	Het
Pum1	A	G	4: 130,499,231 (GRCm39)	I1016V	probably benign	Het
Rbm43	A	G	2: 51,816,712 (GRCm39)	V85A	probably damaging	Het
Rdh16f2	T	A	10: 127,712,864 (GRCm39)	D287E	probably damaging	Het
Rptor	T	A	11: 119,702,812 (GRCm39)	L393Q	probably damaging	Het
Sbf2	T	G	7: 109,970,825 (GRCm39)	H857P	possibly damaging	Het
Scn8a	A	C	15: 100,938,387 (GRCm39)	T1919P	probably benign	Het
Sema6b	C	T	17: 56,434,084 (GRCm39)	G377E	probably damaging	Het
Senp7	T	A	16: 55,975,603 (GRCm39)	D436E	probably damaging	Het
Slc6a17	T	A	3: 107,380,901 (GRCm39)	I535F	probably benign	Het
Sptbn2	T	A	19: 4,779,158 (GRCm39)	S281T	possibly damaging	Het
Stt3b	T	C	9: 115,083,999 (GRCm39)	I392M	probably damaging	Het
Timm10b	T	C	7: 105,289,876 (GRCm39)		probably benign	Het
Ttc23	A	C	7: 67,312,135 (GRCm39)	D14A	probably damaging	Het
Usp32	A	T	11: 84,923,011 (GRCm39)	L636I	possibly damaging	Het
Vgll4	G	T	6: 114,867,613 (GRCm39)	H79Q	probably damaging	Het
Vps13d	A	G	4: 144,818,858 (GRCm39)	I3047T		Het
Zan	T	C	5: 137,448,813 (GRCm39)	E1680G	unknown	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
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'- TGACATTTGGGTCAGTTCACAGC -3'
(R):5'- GAGCCTTCTCTGAACTTCGC -3'

Sequencing Primer
(F):5'- AAGTACTGGATTAGCTGCTCGC -3'
(R):5'- GCCCACAGTGACTTTGTACTTTGAAG -3'

Posted On

2020-07-28