Mutagenetix > Incidental Mutation

Incidental Mutation 'R7752:Gpr4'

597296

Institutional Source

Beutler Lab

Gene Symbol

Gpr4

Ensembl Gene

ENSMUSG00000044317

Gene Name

G protein-coupled receptor 4

Synonyms

MMRRC Submission

045808-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7752 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18946463-18958099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 18956340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 87 (H87Q)

Ref Sequence

ENSEMBL: ENSMUSP00000061243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060225]

AlphaFold

Q8BUD0

Predicted Effect

probably damaging
Transcript: ENSMUST00000060225
AA Change: H87Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061243
Gene: ENSMUSG00000044317
AA Change: H87Q

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	27	302	2.8e-6	PFAM
Pfam:7tm_1	36	288	2.9e-39	PFAM
low complexity region	330	341	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display partial neonatal and postnatal lethality, hemorrhages, impaired association of vascular smooth muscle cells with capillaries and small arteries and veins, and impaired contact between mesangial cells and renal glomerular capillaries. [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
Agfg2	A	T	5: 137,665,966 (GRCm39)	F98I	probably damaging	Het
Akap13	T	A	7: 75,327,006 (GRCm39)	N668K	possibly damaging	Het
Aox4	G	A	1: 58,293,107 (GRCm39)	V868I	not run	Het
Ccdc39	T	C	3: 33,886,766 (GRCm39)	R281G	possibly damaging	Het
Ccnt1	A	T	15: 98,441,797 (GRCm39)	D490E	probably benign	Het
Cfhr2	T	A	1: 139,741,322 (GRCm39)	I218F	probably damaging	Het
Clcn4	T	C	7: 7,296,936 (GRCm39)	K234R	probably benign	Het
Col4a2	A	T	8: 11,479,358 (GRCm39)	D747V	probably benign	Het
Cplane1	A	G	15: 8,299,190 (GRCm39)	E3126G	unknown	Het
Csf1r	T	A	18: 61,243,368 (GRCm39)	L128Q	probably damaging	Het
Dcp1b	G	T	6: 119,152,318 (GRCm39)	R22L	possibly damaging	Het
Ddx6	T	G	9: 44,538,960 (GRCm39)	F256C	probably damaging	Het
Diras1	C	T	10: 80,857,895 (GRCm39)	V119M	probably damaging	Het
Ect2l	T	A	10: 18,017,712 (GRCm39)	D681V	possibly damaging	Het
Eme1	G	T	11: 94,541,645 (GRCm39)	P59Q	probably damaging	Het
Farp1	G	C	14: 121,495,359 (GRCm39)	E605Q	probably damaging	Het
Frem1	G	T	4: 82,877,614 (GRCm39)	T1321K	probably benign	Het
Gcn1	T	A	5: 115,753,627 (GRCm39)	L2326Q	probably damaging	Het
Gpld1	T	A	13: 25,146,758 (GRCm39)	V240E	probably damaging	Het
Ifi213	A	T	1: 173,394,784 (GRCm39)	S584T	probably benign	Het
Il36b	C	T	2: 24,048,826 (GRCm39)	T77M	possibly damaging	Het
Inf2	A	G	12: 112,576,118 (GRCm39)	E865G	unknown	Het
Klk1b1	T	C	7: 43,620,669 (GRCm39)	I253T	probably damaging	Het
Lcmt1	G	T	7: 122,969,030 (GRCm39)	M8I	unknown	Het
Mrs2	T	A	13: 25,202,549 (GRCm39)	D64V	possibly damaging	Het
Ms4a20	A	G	19: 11,079,224 (GRCm39)	I148T	probably benign	Het
Muc4	A	G	16: 32,589,108 (GRCm39)	Y755C		Het
Ncoa3	T	A	2: 165,907,688 (GRCm39)	L1099*	probably null	Het
Nlrp6	T	C	7: 140,507,353 (GRCm39)	V873A	possibly damaging	Het
Nup155	C	T	15: 8,145,926 (GRCm39)	P159L	possibly damaging	Het
Or10v1	A	T	19: 11,873,898 (GRCm39)	H171L	probably benign	Het
Or1ak2	A	T	2: 36,827,630 (GRCm39)	L166F	probably damaging	Het
Or4m1	A	T	14: 50,557,573 (GRCm39)	S240T	probably damaging	Het
Pex5	A	G	6: 124,380,860 (GRCm39)	S255P	probably damaging	Het
Pex5	T	C	6: 124,390,977 (GRCm39)	T58A	probably benign	Het
Phip	T	G	9: 82,772,203 (GRCm39)	M1115L	probably benign	Het
Ppl	T	G	16: 4,920,166 (GRCm39)	S410R	probably benign	Het
Ppp1r17	G	A	6: 55,999,441 (GRCm39)	D25N	probably damaging	Het
Pramel51	T	C	12: 88,142,769 (GRCm39)	E478G	probably damaging	Het
Prox2	T	A	12: 85,134,815 (GRCm39)	I489F	probably damaging	Het
Ptprb	C	G	10: 116,205,333 (GRCm39)	P1896A	probably benign	Het
Rgl2	T	C	17: 34,154,799 (GRCm39)	L601P	possibly damaging	Het
Sash1	C	T	10: 8,656,328 (GRCm39)	W221*	probably null	Het
Skint1	A	C	4: 111,876,399 (GRCm39)	T107P	probably damaging	Het
Slc41a2	A	G	10: 83,091,905 (GRCm39)	S453P	possibly damaging	Het
Sox11	A	T	12: 27,391,439 (GRCm39)	N323K	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Thbd	C	A	2: 148,248,894 (GRCm39)	V325L	probably damaging	Het
Tmco5	T	C	2: 116,722,743 (GRCm39)	F288S	probably damaging	Het
Traj16	T	C	14: 54,440,645 (GRCm39)	Y19H	unknown	Het
Trip11	A	G	12: 101,853,233 (GRCm39)	V454A	probably benign	Het
Tsg101	G	T	7: 46,563,183 (GRCm39)	Q24K	probably benign	Het
Ttn	T	C	2: 76,555,370 (GRCm39)	E30545G	probably damaging	Het
Unkl	T	C	17: 25,437,627 (GRCm39)	S200P	probably damaging	Het
Vwa2	T	A	19: 56,897,672 (GRCm39)	I659N	probably damaging	Het
Wipf3	A	G	6: 54,458,896 (GRCm39)	I84V	probably benign	Het
Zfp592	T	G	7: 80,674,469 (GRCm39)	S478A	probably benign	Het
Zfp664	A	T	5: 124,962,839 (GRCm39)	K78*	probably null	Het
Zfp738	A	T	13: 67,821,110 (GRCm39)	L79*	probably null	Het
Zfyve28	C	T	5: 34,382,326 (GRCm39)	R258Q	probably damaging	Het

Other mutations in Gpr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1628:Gpr4	UTSW	7	18,957,124 (GRCm39)	missense	probably benign
R1878:Gpr4	UTSW	7	18,957,049 (GRCm39)	missense	probably damaging	1.00
R2094:Gpr4	UTSW	7	18,956,503 (GRCm39)	missense	possibly damaging	0.58
R2117:Gpr4	UTSW	7	18,957,070 (GRCm39)	missense	probably damaging	0.98
R4448:Gpr4	UTSW	7	18,956,926 (GRCm39)	missense	probably damaging	1.00
R4705:Gpr4	UTSW	7	18,956,819 (GRCm39)	missense	probably damaging	1.00
R6815:Gpr4	UTSW	7	18,956,560 (GRCm39)	missense	probably damaging	0.98
R7191:Gpr4	UTSW	7	18,957,155 (GRCm39)	missense	probably benign
R7196:Gpr4	UTSW	7	18,957,089 (GRCm39)	missense	probably benign	0.10
R7733:Gpr4	UTSW	7	18,956,635 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACATCTTCGTCATCGGGGTG -3'
(R):5'- TCATCATGGAAGAGCGGTG -3'

Sequencing Primer
(F):5'- TCATCGGGGTGGGGCTG -3'
(R):5'- TGCTGAATTGGCGCCCAG -3'

Posted On

2019-11-26