Mutagenetix > Incidental Mutation

Incidental Mutation 'R4952:Gpbp1'

382091

Institutional Source

Beutler Lab

Gene Symbol

Gpbp1

Ensembl Gene

ENSMUSG00000032745

Gene Name

GC-rich promoter binding protein 1

Synonyms

1700034P14Rik, D230035M11Rik

MMRRC Submission

042549-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4952 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111425680-111490111 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111440750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 202 (D202G)

Ref Sequence

ENSEMBL: ENSMUSP00000155119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047627] [ENSMUST00000091236] [ENSMUST00000136471] [ENSMUST00000231096]

AlphaFold

Q6NXH3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047627
AA Change: D202G

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048240
Gene: ENSMUSG00000032745
AA Change: D202G

Domain	Start	End	E-Value	Type
low complexity region	232	243	N/A	INTRINSIC
Pfam:Vasculin	395	491	1.9e-45	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091236
AA Change: D182G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088777
Gene: ENSMUSG00000032745
AA Change: D182G

Domain	Start	End	E-Value	Type
low complexity region	212	223	N/A	INTRINSIC
Pfam:Vasculin	374	471	1.3e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129638

Predicted Effect

probably benign
Transcript: ENSMUST00000136471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156221

Predicted Effect

probably damaging
Transcript: ENSMUST00000231096
AA Change: D202G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.1773

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.0%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiquitously expressed. This protein is suggested to play a role in the development of atherosclerosis. Studies in mice suggest that it may also function as a GC-rich promoter-specific trans-activating transcription factor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,739,197		probably null	Het
4933421I07Rik	T	C	7: 42,447,659	Y76C	possibly damaging	Het
Adcy4	C	T	14: 55,779,029	D322N	probably damaging	Het
Ak9	A	G	10: 41,420,589	M1444V	probably benign	Het
Amfr	A	G	8: 93,973,159		probably benign	Het
Ankef1	A	G	2: 136,550,529	E546G	probably damaging	Het
Ankrd24	A	G	10: 81,647,148	M977V	probably benign	Het
Ap3m1	A	T	14: 21,040,066	S5T	probably benign	Het
Aqr	C	A	2: 114,109,937	D1243Y	probably damaging	Het
Arhgef2	T	C	3: 88,642,462	L591P	probably damaging	Het
Arid4a	C	A	12: 71,023,525	T70K	possibly damaging	Het
Asphd1	C	T	7: 126,948,685	A149T	probably benign	Het
Avpr1a	T	A	10: 122,449,754	M317K	probably damaging	Het
Birc2	T	C	9: 7,836,740	I109V	probably damaging	Het
Catsperd	A	G	17: 56,632,303	Y44C	probably damaging	Het
Ccdc114	A	C	7: 45,942,191	E293A	probably damaging	Het
Crygb	T	G	1: 65,082,109	S20R	probably benign	Het
Cyp3a25	T	C	5: 145,991,524	N237S	probably benign	Het
Dkk3	C	T	7: 112,118,351	A304T	probably benign	Het
Dst	T	C	1: 34,271,422	L4101S	probably damaging	Het
Dysf	A	G	6: 84,149,986	N1407S	possibly damaging	Het
Epb41	A	G	4: 132,000,270	V265A	probably damaging	Het
Faim2	C	T	15: 99,521,228	E75K	possibly damaging	Het
Fbn1	T	A	2: 125,317,534	D2208V	probably damaging	Het
Fbxo28	A	G	1: 182,326,385	S129P	probably damaging	Het
Fbxw14	T	A	9: 109,276,201	I299L	probably benign	Het
Fras1	C	T	5: 96,647,498	A1050V	probably benign	Het
Fyb	C	A	15: 6,638,811	T495K	probably damaging	Het
Ghdc	A	T	11: 100,769,151	W257R	probably damaging	Het
Gm10719	T	C	9: 3,018,962	L69S	probably benign	Het
Gm11492	A	G	11: 87,567,772	N324S	probably benign	Het
Gm12250	G	T	11: 58,188,384		noncoding transcript	Het
Gm4846	A	T	1: 166,483,934	F452Y	probably damaging	Het
Gm8773	T	A	5: 5,575,387	F28I	probably benign	Het
Gm884	T	C	11: 103,614,207	T2312A	possibly damaging	Het
Gpd2	C	A	2: 57,307,013	Y193*	probably null	Het
Grhl2	G	T	15: 37,287,249	R229L	probably benign	Het
Gtf2a1	A	G	12: 91,575,749	F59L	possibly damaging	Het
Heatr1	G	T	13: 12,410,599	W640L	probably benign	Het
Kalrn	A	T	16: 34,357,415		probably null	Het
Keap1	T	C	9: 21,237,286	T142A	probably damaging	Het
Kpna2	G	A	11: 106,991,235	T255M	probably damaging	Het
Kpna3	A	G	14: 61,370,389	C456R	probably damaging	Het
Lama1	G	A	17: 67,767,566		probably null	Het
Mag	C	A	7: 30,909,156	E178*	probably null	Het
Map3k13	A	G	16: 21,911,019	I467V	probably benign	Het
Mga	A	G	2: 119,903,301	E210G	probably damaging	Het
Msi2	C	T	11: 88,366,784		probably null	Het
Naa16	A	T	14: 79,345,085	D521E	probably damaging	Het
Nav2	C	T	7: 49,304,540		probably benign	Het
Nek10	T	A	14: 14,860,986	L513M	possibly damaging	Het
Nek5	T	C	8: 22,096,799	K332R	probably benign	Het
Nek5	T	A	8: 22,079,088	I573L	probably benign	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,213,026		probably benign	Het
Olfr111	A	T	17: 37,530,750	T258S	possibly damaging	Het
Olfr263	G	A	13: 21,133,344	V190I	probably benign	Het
Olfr773	T	A	10: 129,186,597	T275S	probably benign	Het
Olfr875	T	A	9: 37,773,064	M135K	probably damaging	Het
Orai1	T	G	5: 123,029,250	V162G	probably damaging	Het
P2rx6	T	C	16: 17,567,444	S134P	probably damaging	Het
Pappa2	G	A	1: 158,857,136	T811I	probably null	Het
Pcdhga10	T	C	18: 37,747,160		probably benign	Het
Pex16	C	T	2: 92,379,060	R241*	probably null	Het
Plxnb1	T	C	9: 109,114,836	F1969L	probably damaging	Het
Postn	A	G	3: 54,390,315		probably benign	Het
Prdm15	A	T	16: 97,806,077	I752N	probably damaging	Het
Rasgef1c	A	T	11: 49,979,512	K468M	probably damaging	Het
Rbfox1	A	G	16: 7,277,088	S111G	probably benign	Het
Rbm28	T	C	6: 29,138,598	D405G	probably damaging	Het
Rell1	A	G	5: 63,939,667		probably benign	Het
Rfx3	A	G	19: 27,830,672	S224P	probably damaging	Het
Scarb2	A	T	5: 92,454,777	I260K	probably damaging	Het
Slc15a4	A	G	5: 127,603,837	F72L	probably damaging	Het
Spg7	C	A	8: 123,090,171	R534S	probably damaging	Het
Stoml2	T	C	4: 43,029,589	T164A	probably benign	Het
Syt11	C	T	3: 88,762,283	G101S	possibly damaging	Het
Traj12	A	G	14: 54,206,556		probably benign	Het
Traj7	A	T	14: 54,211,524		probably benign	Het
Tysnd1	C	T	10: 61,702,076	T175I	possibly damaging	Het
Usp48	T	G	4: 137,606,693	Y139*	probably null	Het
Vmn2r72	A	G	7: 85,751,109	L244P	probably benign	Het
Wasf1	C	A	10: 40,936,190	P325Q	unknown	Het
Zc3h18	T	A	8: 122,410,900		probably benign	Het
Zfp712	A	G	13: 67,040,841	S541P	possibly damaging	Het

Other mutations in Gpbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Gpbp1	APN	13	111440750	missense	probably damaging	0.96
IGL01360:Gpbp1	APN	13	111426541	utr 3 prime	probably benign
IGL01609:Gpbp1	APN	13	111439202	missense	possibly damaging	0.62
IGL01747:Gpbp1	APN	13	111453050	missense	probably damaging	0.99
IGL02614:Gpbp1	APN	13	111436473	missense	probably benign	0.01
IGL03329:Gpbp1	APN	13	111453253	splice site	probably benign
R0315:Gpbp1	UTSW	13	111436538	missense	possibly damaging	0.50
R0510:Gpbp1	UTSW	13	111440745	missense	possibly damaging	0.58
R1549:Gpbp1	UTSW	13	111436579	missense	probably benign	0.00
R1582:Gpbp1	UTSW	13	111436532	splice site	probably null
R1762:Gpbp1	UTSW	13	111440774	missense	probably benign	0.02
R2074:Gpbp1	UTSW	13	111453407	missense	probably benign	0.18
R2276:Gpbp1	UTSW	13	111466978	splice site	probably null
R3685:Gpbp1	UTSW	13	111466871	missense	probably benign	0.06
R4307:Gpbp1	UTSW	13	111448983	makesense	probably null
R4408:Gpbp1	UTSW	13	111448964	missense	possibly damaging	0.63
R4840:Gpbp1	UTSW	13	111440630	critical splice donor site	probably null
R5152:Gpbp1	UTSW	13	111453281	intron	probably benign
R5376:Gpbp1	UTSW	13	111426642	missense	probably damaging	1.00
R6143:Gpbp1	UTSW	13	111466855	missense	probably damaging	0.98
R6378:Gpbp1	UTSW	13	111433612	missense	probably damaging	1.00
R6516:Gpbp1	UTSW	13	111453102	missense	probably benign	0.05
R6687:Gpbp1	UTSW	13	111438085	missense	possibly damaging	0.78
R6745:Gpbp1	UTSW	13	111453385	missense	probably benign	0.05
R7186:Gpbp1	UTSW	13	111440699	missense	possibly damaging	0.89
R7310:Gpbp1	UTSW	13	111453390	missense	probably benign	0.02
R7669:Gpbp1	UTSW	13	111439124	missense	probably benign	0.16
R7881:Gpbp1	UTSW	13	111439199	missense	possibly damaging	0.45
R8994:Gpbp1	UTSW	13	111466850	critical splice donor site	probably null
R9142:Gpbp1	UTSW	13	111426499	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCAGAATAATTCAGTGTAGTGTGAC -3'
(R):5'- CCCTGCAGTTATCTGTATTAGTAAGC -3'

Sequencing Primer
(F):5'- TGACAATTCACAAACAGGACATC -3'
(R):5'- TTATTTCAATCCCAAACCAGCTGAG -3'

Posted On

2016-04-27