Mutagenetix > Incidental Mutation

Incidental Mutation 'R7192:Ccndbp1'

559635

Institutional Source

Beutler Lab

Gene Symbol

Ccndbp1

Ensembl Gene

ENSMUSG00000023572

Gene Name

cyclin D-type binding-protein 1

Synonyms

SSEC-8, GCIP, Maid, stage specific embryonic cDNA-8, DIP1

MMRRC Submission

045333-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R7192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120838884-120847385 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120843424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 272 (D272G)

Ref Sequence

ENSEMBL: ENSMUSP00000062496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060455] [ENSMUST00000099488] [ENSMUST00000099489] [ENSMUST00000102490] [ENSMUST00000171260]

AlphaFold

Q3TVC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000060455
AA Change: D272G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062496
Gene: ENSMUSG00000023572
AA Change: D272G

Domain	Start	End	E-Value	Type
Pfam:GCIP	50	318	4.2e-93	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099488
AA Change: D272G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097087
Gene: ENSMUSG00000023572
AA Change: D272G

Domain	Start	End	E-Value	Type
Pfam:GCIP	50	311	4.8e-90	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099489
AA Change: D225G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097088
Gene: ENSMUSG00000023572
AA Change: D225G

Domain	Start	End	E-Value	Type
Pfam:GCIP	3	271	3.7e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102490

SMART Domains

Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216

Domain	Start	End	E-Value	Type
Pfam:Transglut_N	6	124	5.8e-34	PFAM
TGc	260	353	3.52e-27	SMART
low complexity region	442	458	N/A	INTRINSIC
Pfam:Transglut_C	475	580	8e-23	PFAM
Pfam:Transglut_C	588	686	8.8e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171260
AA Change: D272G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125961
Gene: ENSMUSG00000023572
AA Change: D272G

Domain	Start	End	E-Value	Type
Pfam:GCIP	52	309	4.7e-74	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a targeted null allele exhibit a delay in G1/S-phase progression of hepatocytes after partial hepatectomy and develop hepatocellular carcinomas at an advanced age. [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
1700001O22Rik	G	A	2: 30,686,188 (GRCm39)	T329I	probably damaging	Het
Actl6a	C	A	3: 32,774,373 (GRCm39)	P290H	probably damaging	Het
Akap9	T	A	5: 4,055,723 (GRCm39)		probably null	Het
Anxa2r2	T	A	13: 120,488,241 (GRCm39)	K103*	probably null	Het
Bach1	C	T	16: 87,526,551 (GRCm39)	S671L	possibly damaging	Het
Cacna1c	T	C	6: 118,633,210 (GRCm39)	I1099V		Het
Cage1	G	T	13: 38,203,220 (GRCm39)	P615T	probably benign	Het
Caskin2	C	A	11: 115,692,202 (GRCm39)	R861L	probably damaging	Het
Cc2d2b	A	G	19: 40,762,881 (GRCm39)	T386A	unknown	Het
Cep192	T	A	18: 67,983,599 (GRCm39)	V1553E	probably damaging	Het
Cfhr4	T	A	1: 139,667,033 (GRCm39)	H414L	probably damaging	Het
Chrm5	C	T	2: 112,310,672 (GRCm39)	G148D	probably damaging	Het
Cntnap4	T	C	8: 113,608,432 (GRCm39)	V1284A	probably benign	Het
Cpd	T	C	11: 76,705,667 (GRCm39)	Y355C	probably damaging	Het
Csmd3	C	T	15: 47,567,633 (GRCm39)	V1266I		Het
Cyfip2	T	C	11: 46,145,493 (GRCm39)	E609G	probably benign	Het
Dbr1	T	C	9: 99,458,755 (GRCm39)		probably null	Het
Dmxl1	T	C	18: 50,088,920 (GRCm39)	Y2800H	probably damaging	Het
Dnajc6	G	T	4: 101,455,000 (GRCm39)	A64S	probably benign	Het
Dpp8	A	T	9: 64,953,068 (GRCm39)	N248I	possibly damaging	Het
Dsp	A	T	13: 38,379,569 (GRCm39)	I2105F	probably benign	Het
Edem1	G	A	6: 108,805,965 (GRCm39)	V89M	probably benign	Het
Eml4	A	G	17: 83,761,890 (GRCm39)	Q528R	probably benign	Het
Epb42	A	T	2: 120,854,578 (GRCm39)	V669D	unknown	Het
Fat4	A	T	3: 39,034,613 (GRCm39)	Q2755L	probably benign	Het
Gata6	A	G	18: 11,054,475 (GRCm39)	K135E	possibly damaging	Het
Gmeb1	A	T	4: 131,955,201 (GRCm39)	F325I	probably benign	Het
H2-M10.3	C	T	17: 36,677,451 (GRCm39)	E276K	probably damaging	Het
H4c17	A	T	13: 21,996,227 (GRCm39)	K92*	probably null	Het
Ifi207	T	C	1: 173,556,584 (GRCm39)	N718S	not run	Het
Il6st	A	G	13: 112,631,741 (GRCm39)	N427D	probably benign	Het
Kat7	T	A	11: 95,166,656 (GRCm39)	M509L	probably benign	Het
Klk1b4	T	C	7: 43,859,045 (GRCm39)	V21A	probably benign	Het
Malt1	T	A	18: 65,570,898 (GRCm39)	L78Q	probably benign	Het
Mertk	A	G	2: 128,635,028 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,796,376 (GRCm39)	L1016P	probably damaging	Het
Neu4	A	G	1: 93,952,863 (GRCm39)	I411V	probably benign	Het
Nutm2	A	T	13: 50,627,105 (GRCm39)	D420V	probably damaging	Het
Or10j3b	T	A	1: 173,043,575 (GRCm39)	M119K	probably damaging	Het
Or2w2	A	G	13: 21,758,539 (GRCm39)	L29P	probably damaging	Het
Or4k1	T	C	14: 50,377,577 (GRCm39)	E173G	possibly damaging	Het
Or5ac24	T	C	16: 59,165,542 (GRCm39)	D174G	probably benign	Het
Pcdha12	C	T	18: 37,153,316 (GRCm39)	R12W	probably benign	Het
Pdgfra	G	T	5: 75,343,767 (GRCm39)	D763Y	probably damaging	Het
Pkd2	T	C	5: 104,634,523 (GRCm39)	V518A	probably benign	Het
Prb1a	G	T	6: 132,184,335 (GRCm39)	P433T	unknown	Het
Ptrh2	A	G	11: 86,580,835 (GRCm39)	T151A	probably damaging	Het
Qars1	T	A	9: 108,388,760 (GRCm39)	N273K	probably damaging	Het
Robo2	T	C	16: 73,717,638 (GRCm39)	Y1154C	probably benign	Het
Rps6kc1	T	A	1: 190,532,556 (GRCm39)	D482V	probably damaging	Het
Sec16b	T	C	1: 157,357,013 (GRCm39)	S74P	probably benign	Het
Serpinb2	A	T	1: 107,452,306 (GRCm39)	I295F	probably damaging	Het
Sh3pxd2b	T	A	11: 32,364,318 (GRCm39)	D301E	probably damaging	Het
Sipa1l2	G	A	8: 126,149,348 (GRCm39)	T1637I	probably benign	Het
Slc27a4	A	T	2: 29,695,941 (GRCm39)	N159Y	probably damaging	Het
Stat1	A	C	1: 52,174,780 (GRCm39)	K161Q	possibly damaging	Het
Stc2	T	C	11: 31,319,872 (GRCm39)		probably benign	Het
Strip1	A	G	3: 107,522,651 (GRCm39)	W681R	possibly damaging	Het
Sv2a	G	A	3: 96,101,062 (GRCm39)	G687S	probably damaging	Het
Thnsl2	C	T	6: 71,116,739 (GRCm39)	V138I	probably benign	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tnfrsf1a	T	C	6: 125,338,559 (GRCm39)	S235P	unknown	Het
Tpbg	T	A	9: 85,726,085 (GRCm39)	L18*	probably null	Het
Trabd2b	A	T	4: 114,467,217 (GRCm39)	Q482L	possibly damaging	Het
Trim35	T	A	14: 66,534,895 (GRCm39)	F126Y	probably damaging	Het
Ttn	A	T	2: 76,658,288 (GRCm39)	V12364D	unknown	Het
Ubac2	A	G	14: 122,211,128 (GRCm39)	Y166C	probably damaging	Het
Unc13b	T	A	4: 43,258,519 (GRCm39)	V1320D	probably damaging	Het
Usp34	T	A	11: 23,410,571 (GRCm39)	Y2693N		Het
Utp20	A	T	10: 88,608,321 (GRCm39)	M1572K	probably benign	Het
Vmn1r7	C	T	6: 57,001,452 (GRCm39)	M269I	probably benign	Het
Vmn2r3	C	T	3: 64,167,364 (GRCm39)	G589D	probably benign	Het
Vrtn	A	T	12: 84,695,636 (GRCm39)	M129L	probably damaging	Het
Zfp273	A	T	13: 67,973,183 (GRCm39)	T104S	possibly damaging	Het
Zfp384	T	A	6: 125,010,275 (GRCm39)	N390K	probably damaging	Het
Znfx1	A	G	2: 166,884,110 (GRCm39)	M933T	probably benign	Het

Other mutations in Ccndbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02305:Ccndbp1	APN	2	120,841,933 (GRCm39)	missense	probably damaging	1.00
R0141:Ccndbp1	UTSW	2	120,842,903 (GRCm39)	missense	probably damaging	1.00
R3774:Ccndbp1	UTSW	2	120,839,581 (GRCm39)	missense	possibly damaging	0.80
R4490:Ccndbp1	UTSW	2	120,842,876 (GRCm39)	missense	probably damaging	0.97
R4695:Ccndbp1	UTSW	2	120,845,208 (GRCm39)	unclassified	probably benign
R4783:Ccndbp1	UTSW	2	120,839,003 (GRCm39)	missense	probably benign	0.00
R4784:Ccndbp1	UTSW	2	120,839,003 (GRCm39)	missense	probably benign	0.00
R4785:Ccndbp1	UTSW	2	120,839,003 (GRCm39)	missense	probably benign	0.00
R4878:Ccndbp1	UTSW	2	120,845,172 (GRCm39)	nonsense	probably null
R5637:Ccndbp1	UTSW	2	120,842,165 (GRCm39)	missense	probably benign	0.08
R5687:Ccndbp1	UTSW	2	120,845,183 (GRCm39)	unclassified	probably benign
R6363:Ccndbp1	UTSW	2	120,843,454 (GRCm39)	missense	probably damaging	1.00
R6913:Ccndbp1	UTSW	2	120,840,347 (GRCm39)	missense	probably benign	0.01
R7601:Ccndbp1	UTSW	2	120,846,627 (GRCm39)	missense	probably damaging	0.99
R8071:Ccndbp1	UTSW	2	120,845,046 (GRCm39)	missense	unknown
R8283:Ccndbp1	UTSW	2	120,839,065 (GRCm39)	unclassified	probably benign
R9442:Ccndbp1	UTSW	2	120,839,013 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCCTCTTGAATGATTCTGAAGAC -3'
(R):5'- AGGATGTACGGCTACTGACTC -3'

Sequencing Primer
(F):5'- GAATGATTCTGAAGACAACTCCG -3'
(R):5'- AAGGGCATCAGCTCAGAT -3'

Posted On

2019-06-26