Mutagenetix > Incidental Mutation

Incidental Mutation 'R7186:Gpbp1'

559319

Institutional Source

Beutler Lab

Gene Symbol

Gpbp1

Ensembl Gene

ENSMUSG00000032745

Gene Name

GC-rich promoter binding protein 1

Synonyms

D230035M11Rik, 1700034P14Rik

MMRRC Submission

045271-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7186 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111562214-111626645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111577233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 219 (V219A)

Ref Sequence

ENSEMBL: ENSMUSP00000048240 (fasta)

Gene Model

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

AlphaFold

Q6NXH3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047627
AA Change: V219A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048240
Gene: ENSMUSG00000032745
AA Change: V219A

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: V199A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088777
Gene: ENSMUSG00000032745
AA Change: V199A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136471

Predicted Effect

probably damaging
Transcript: ENSMUST00000231096
AA Change: V219A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.0596

Coding Region Coverage

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

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	A	11: 48,910,100 (GRCm39)	I778F	possibly damaging	Het
Adam39	A	T	8: 41,279,349 (GRCm39)	N580I	probably damaging	Het
Adamts20	A	G	15: 94,220,689 (GRCm39)	S1415P	possibly damaging	Het
Adcy2	A	G	13: 68,816,758 (GRCm39)	Y743H	probably damaging	Het
Aldh1a3	A	G	7: 66,055,831 (GRCm39)	V320A	probably damaging	Het
Arid1a	TGCCGCCGCCGCCGCCGCCGCCG	TGCCGCCGCCGCCGCCGCCG	4: 133,480,544 (GRCm39)			Het
Art5	G	T	7: 101,746,536 (GRCm39)	R268S	probably benign	Het
Bfar	T	C	16: 13,510,371 (GRCm39)	V238A	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cdc23	G	A	18: 34,770,175 (GRCm39)	T408I	probably damaging	Het
Cdh24	G	C	14: 54,870,949 (GRCm39)	P522A	probably benign	Het
Clk4	T	C	11: 51,159,607 (GRCm39)	V61A	probably benign	Het
Clrn2	T	C	5: 45,611,115 (GRCm39)		probably benign	Het
Cyp2j8	T	C	4: 96,363,787 (GRCm39)	D292G	probably benign	Het
Deaf1	T	C	7: 140,907,383 (GRCm39)	E34G	probably benign	Het
Elovl7	A	G	13: 108,408,382 (GRCm39)	E127G	probably damaging	Het
Flg	A	T	3: 93,187,252 (GRCm39)	R235*	probably null	Het
Gbp3	G	A	3: 142,269,923 (GRCm39)	V77M	probably damaging	Het
Gda	A	T	19: 21,372,569 (GRCm39)	F450I	probably benign	Het
Gipc1	A	G	8: 84,390,762 (GRCm39)	E289G	possibly damaging	Het
Gm4924	T	C	10: 82,214,778 (GRCm39)	Y859H	unknown	Het
Gpatch1	A	T	7: 34,994,738 (GRCm39)	D509E	possibly damaging	Het
Gpr107	A	T	2: 31,042,371 (GRCm39)	M1L	possibly damaging	Het
Heg1	T	C	16: 33,552,034 (GRCm39)	F1003L	probably damaging	Het
Hivep1	A	G	13: 42,309,814 (GRCm39)	T685A	probably benign	Het
Hpse	T	A	5: 100,843,395 (GRCm39)	D259V	probably damaging	Het
Ido2	A	T	8: 25,040,826 (GRCm39)		probably null	Het
Ighv14-1	T	C	12: 113,895,649 (GRCm39)	D92G	probably damaging	Het
Krt87	A	T	15: 101,385,083 (GRCm39)		probably null	Het
Lsp1	T	C	7: 142,044,089 (GRCm39)	V278A	probably damaging	Het
Lurap1l	C	A	4: 80,829,747 (GRCm39)	S52R	possibly damaging	Het
Luzp2	A	G	7: 54,485,577 (GRCm39)		probably benign	Het
Micall1	A	G	15: 79,009,575 (GRCm39)	E399G	unknown	Het
Ncapd2	A	G	6: 125,163,119 (GRCm39)	S130P	possibly damaging	Het
Nrg2	A	G	18: 36,178,973 (GRCm39)	V321A	probably benign	Het
Nuf2	T	C	1: 169,352,954 (GRCm39)	H17R	probably damaging	Het
Numb	A	G	12: 83,842,920 (GRCm39)	W419R	probably damaging	Het
Or4d2b	G	A	11: 87,780,591 (GRCm39)	L44F	possibly damaging	Het
Or4f62	T	A	2: 111,986,507 (GRCm39)	D70E	probably damaging	Het
Or56a3b	A	G	7: 104,771,473 (GRCm39)	R270G	probably benign	Het
Pde6a	T	A	18: 61,353,678 (GRCm39)	M1K	probably null	Het
Pknox1	C	T	17: 31,822,172 (GRCm39)	A313V	probably damaging	Het
Ppp2ca	T	A	11: 52,010,080 (GRCm39)	N229K	possibly damaging	Het
Ptgdr	A	T	14: 45,096,401 (GRCm39)	C104S	probably damaging	Het
Ralgapa2	C	A	2: 146,230,406 (GRCm39)		probably null	Het
Rfx5	G	T	3: 94,865,659 (GRCm39)	K319N	probably benign	Het
Rnase10	A	T	14: 51,247,242 (GRCm39)	T207S	probably damaging	Het
Rreb1	A	G	13: 38,125,608 (GRCm39)	T1305A	probably benign	Het
Rrp12	C	A	19: 41,859,744 (GRCm39)		probably null	Het
Rubcnl	A	C	14: 75,269,453 (GRCm39)	D37A	possibly damaging	Het
Saxo5	T	C	8: 3,529,049 (GRCm39)	F208S	probably damaging	Het
Scn9a	T	C	2: 66,364,567 (GRCm39)	Y802C	probably damaging	Het
Sec16a	A	T	2: 26,330,715 (GRCm39)	Y433*	probably null	Het
Sgk3	T	A	1: 9,956,227 (GRCm39)	V331D	probably benign	Het
Sirt7	C	T	11: 120,511,311 (GRCm39)	R280H	probably benign	Het
Snx13	G	C	12: 35,142,912 (GRCm39)	R252S	probably damaging	Het
Stk32b	G	T	5: 37,624,125 (GRCm39)	D207E	probably damaging	Het
Sult2a7	C	T	7: 14,203,978 (GRCm39)	V262I	not run	Het
Tcstv7b	C	T	13: 120,702,587 (GRCm39)	L128F	probably damaging	Het
Tent5b	T	A	4: 133,213,518 (GRCm39)	F130I	probably damaging	Het
Tmem33	G	C	5: 67,421,130 (GRCm39)	V35L	possibly damaging	Het
Uba1y	A	G	Y: 825,537 (GRCm39)	I300V	probably benign	Het
Usp32	A	T	11: 84,942,060 (GRCm39)	V344E	probably benign	Het
Usp50	C	T	2: 126,625,218 (GRCm39)		probably benign	Het
Vmn1r238	A	C	18: 3,122,661 (GRCm39)	F251C	probably damaging	Het
Vmn2r74	A	T	7: 85,601,150 (GRCm39)	Y829*	probably null	Het
Wars1	A	G	12: 108,846,982 (GRCm39)	F141L	probably damaging	Het
Zfp879	A	G	11: 50,724,621 (GRCm39)	V145A	probably benign	Het
Zfp934	A	T	13: 62,640,204 (GRCm39)	V56D	probably benign	Het

Other mutations in Gpbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Gpbp1	APN	13	111,577,284 (GRCm39)	missense	probably damaging	0.96
IGL01360:Gpbp1	APN	13	111,563,075 (GRCm39)	utr 3 prime	probably benign
IGL01609:Gpbp1	APN	13	111,575,736 (GRCm39)	missense	possibly damaging	0.62
IGL01747:Gpbp1	APN	13	111,589,584 (GRCm39)	missense	probably damaging	0.99
IGL02614:Gpbp1	APN	13	111,573,007 (GRCm39)	missense	probably benign	0.01
IGL03329:Gpbp1	APN	13	111,589,787 (GRCm39)	splice site	probably benign
R0315:Gpbp1	UTSW	13	111,573,072 (GRCm39)	missense	possibly damaging	0.50
R0510:Gpbp1	UTSW	13	111,577,279 (GRCm39)	missense	possibly damaging	0.58
R1549:Gpbp1	UTSW	13	111,573,113 (GRCm39)	missense	probably benign	0.00
R1582:Gpbp1	UTSW	13	111,573,066 (GRCm39)	splice site	probably null
R1762:Gpbp1	UTSW	13	111,577,308 (GRCm39)	missense	probably benign	0.02
R2074:Gpbp1	UTSW	13	111,589,941 (GRCm39)	missense	probably benign	0.18
R2276:Gpbp1	UTSW	13	111,603,512 (GRCm39)	splice site	probably null
R3685:Gpbp1	UTSW	13	111,603,405 (GRCm39)	missense	probably benign	0.06
R4307:Gpbp1	UTSW	13	111,585,517 (GRCm39)	makesense	probably null
R4408:Gpbp1	UTSW	13	111,585,498 (GRCm39)	missense	possibly damaging	0.63
R4840:Gpbp1	UTSW	13	111,577,164 (GRCm39)	critical splice donor site	probably null
R4952:Gpbp1	UTSW	13	111,577,284 (GRCm39)	missense	probably damaging	0.96
R5152:Gpbp1	UTSW	13	111,589,815 (GRCm39)	intron	probably benign
R5376:Gpbp1	UTSW	13	111,563,176 (GRCm39)	missense	probably damaging	1.00
R6143:Gpbp1	UTSW	13	111,603,389 (GRCm39)	missense	probably damaging	0.98
R6378:Gpbp1	UTSW	13	111,570,146 (GRCm39)	missense	probably damaging	1.00
R6516:Gpbp1	UTSW	13	111,589,636 (GRCm39)	missense	probably benign	0.05
R6687:Gpbp1	UTSW	13	111,574,619 (GRCm39)	missense	possibly damaging	0.78
R6745:Gpbp1	UTSW	13	111,589,919 (GRCm39)	missense	probably benign	0.05
R7310:Gpbp1	UTSW	13	111,589,924 (GRCm39)	missense	probably benign	0.02
R7669:Gpbp1	UTSW	13	111,575,658 (GRCm39)	missense	probably benign	0.16
R7881:Gpbp1	UTSW	13	111,575,733 (GRCm39)	missense	possibly damaging	0.45
R8994:Gpbp1	UTSW	13	111,603,384 (GRCm39)	critical splice donor site	probably null
R9142:Gpbp1	UTSW	13	111,563,033 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTAACTTAGCACCAAGTAAATACTGC -3'
(R):5'- TATTTCAATCCCAAACCAGCTGAG -3'

Sequencing Primer
(F):5'- CTAGTTTAGAAGTTCCAGGACAGCC -3'
(R):5'- AAAATGCTGTAAGGTTTGGTAGG -3'

Posted On

2019-06-26