Mutagenetix > Incidental Mutation

Incidental Mutation 'R8478:Prokr1'

657369

Institutional Source

Beutler Lab

Gene Symbol

Prokr1

Ensembl Gene

ENSMUSG00000049409

Gene Name

prokineticin receptor 1

Synonyms

Pkr1, Gpr73, EG-VEGFR1

MMRRC Submission

067922-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87555573-87567725 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87558330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 352 (Y352H)

Ref Sequence

ENSEMBL: ENSMUSP00000144999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050887] [ENSMUST00000204682]

AlphaFold

Q9JKL1

Predicted Effect

probably benign
Transcript: ENSMUST00000050887
AA Change: Y352H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000059034
Gene: ENSMUSG00000049409
AA Change: Y352H

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	73	360	8.8e-8	PFAM
Pfam:7tm_1	79	342	7.2e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204682
AA Change: Y352H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000144999
Gene: ENSMUSG00000049409
AA Change: Y352H

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	73	360	8.8e-8	PFAM
Pfam:7tm_1	79	342	7.2e-47	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (66/66)

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 G-protein-coupled receptor family. The encoded protein binds to prokineticins (1 and 2), leading to the activation of MAPK and STAT signaling pathways. Prokineticins are protein ligands involved in angiogenesis and inflammation. The encoded protein is expressed in peripheral tissues such as those comprising the circulatory system, lungs, reproductive system, endocrine system and the gastrointestinal system. The protein may be involved in signaling in human fetal ovary during initiation of primordial follicle formation. Sequence variants in this gene may be associated with recurrent miscarriage. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for one null allele exhibit abnormal nociceptions and hypoalgesia. Mice homozygous for another null allele exhibit decreased capillary density in the heart. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	T	9: 107,805,844 (GRCm39)	I56F	possibly damaging	Het
Adgrl3	G	T	5: 81,942,348 (GRCm39)	R1357L	possibly damaging	Het
Alpk1	T	A	3: 127,522,961 (GRCm39)	D27V	probably damaging	Het
Als2	T	C	1: 59,225,175 (GRCm39)	E986G	probably damaging	Het
Ankle2	T	A	5: 110,400,818 (GRCm39)	L717Q	possibly damaging	Het
Arl8b	A	G	6: 108,760,285 (GRCm39)	T24A	possibly damaging	Het
Atp2a1	A	G	7: 126,047,502 (GRCm39)	I718T	probably damaging	Het
Atp6v0e2	T	A	6: 48,517,031 (GRCm39)	N70K	probably benign	Het
Bcl11a	A	G	11: 24,115,086 (GRCm39)	S810G	probably damaging	Het
Bcl2a1d	T	G	9: 88,605,488 (GRCm39)	*173S	probably null	Het
Bltp1	A	T	3: 37,087,426 (GRCm39)	D511V	possibly damaging	Het
Cacna1g	A	G	11: 94,317,278 (GRCm39)	Y1494H	probably damaging	Het
Ccdc7a	T	C	8: 129,487,850 (GRCm39)	K186E	possibly damaging	Het
Cfap43	T	C	19: 47,764,515 (GRCm39)	I817V	probably benign	Het
Chd5	C	T	4: 152,441,147 (GRCm39)	R196*	probably null	Het
Chsy1	C	T	7: 65,820,748 (GRCm39)	H328Y	probably benign	Het
Clcn3	A	T	8: 61,372,522 (GRCm39)	S713T	probably benign	Het
Csrnp3	A	T	2: 65,708,400 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,332,001 (GRCm39)	N86S	probably benign	Het
Epha3	T	C	16: 63,593,444 (GRCm39)	T215A	probably damaging	Het
Fgf1	T	C	18: 38,987,944 (GRCm39)		probably null	Het
Fosl1	T	C	19: 5,504,947 (GRCm39)	S145P	probably damaging	Het
Frem3	T	A	8: 81,338,187 (GRCm39)	V160E	probably damaging	Het
Galk2	A	T	2: 125,771,505 (GRCm39)	K177*	probably null	Het
Gria1	T	C	11: 57,200,668 (GRCm39)	Y782H	probably damaging	Het
Gria4	C	T	9: 4,793,882 (GRCm39)	E59K	probably damaging	Het
Ighv1-11	A	G	12: 114,575,919 (GRCm39)	Y99H	possibly damaging	Het
Insm2	A	T	12: 55,647,330 (GRCm39)	Y358F	probably damaging	Het
Marveld3	C	T	8: 110,688,600 (GRCm39)	G47D	probably damaging	Het
Mthfd1l	A	G	10: 4,098,064 (GRCm39)	D967G	probably damaging	Het
Nav2	G	T	7: 49,111,733 (GRCm39)	M746I	probably damaging	Het
Niban1	C	A	1: 151,512,263 (GRCm39)	T55K	possibly damaging	Het
Nmnat1	A	G	4: 149,557,841 (GRCm39)	I67T	possibly damaging	Het
Nub1	G	T	5: 24,906,422 (GRCm39)	R316L	probably benign	Het
Nxn	A	G	11: 76,164,869 (GRCm39)	V214A	probably damaging	Het
Or52n5	C	A	7: 104,588,477 (GRCm39)	S248Y	probably benign	Het
Pelp1	A	T	11: 70,285,146 (GRCm39)	D907E	unknown	Het
Pik3c2a	A	T	7: 116,017,584 (GRCm39)	S58T	probably damaging	Het
Pik3ca	A	G	3: 32,505,997 (GRCm39)	N703S	probably benign	Het
Polr3c	G	A	3: 96,624,066 (GRCm39)		probably benign	Het
Pon1	C	T	6: 5,185,318 (GRCm39)	G61R	probably damaging	Het
Pou2f1	A	T	1: 165,759,287 (GRCm39)	M1K	probably null	Het
Prkdc	T	A	16: 15,466,788 (GRCm39)	C90S	probably benign	Het
Rhod	C	T	19: 4,476,719 (GRCm39)	R134H	probably damaging	Het
Rufy3	C	T	5: 88,762,895 (GRCm39)	R110W	probably damaging	Het
Sema4c	A	T	1: 36,590,871 (GRCm39)	M460K	probably benign	Het
Slc46a3	T	C	5: 147,815,963 (GRCm39)	S455G	probably benign	Het
Smyd1	A	T	6: 71,193,811 (GRCm39)	H371Q	probably damaging	Het
Steap1	A	G	5: 5,786,432 (GRCm39)	M335T	probably benign	Het
Suox	A	G	10: 128,506,921 (GRCm39)	V369A	probably damaging	Het
Thbs2	T	C	17: 14,900,666 (GRCm39)	I514V	probably benign	Het
Tie1	A	T	4: 118,341,979 (GRCm39)		probably null	Het
Tmem131l	T	C	3: 83,805,769 (GRCm39)	E1558G	probably damaging	Het
Tpcn1	G	T	5: 120,698,386 (GRCm39)	H45Q	probably benign	Het
Ush1c	A	G	7: 45,870,857 (GRCm39)	S327P	probably damaging	Het
Ush2a	G	A	1: 188,175,429 (GRCm39)	V1176M	possibly damaging	Het
Utrn	A	G	10: 12,524,892 (GRCm39)	M2197T	probably benign	Het
Vmn1r50	G	T	6: 90,085,071 (GRCm39)	C272F	probably benign	Het
Vmn2r10	A	T	5: 109,143,636 (GRCm39)	N771K	probably damaging	Het
Vmn2r2	A	T	3: 64,024,257 (GRCm39)	F691I	possibly damaging	Het
Vmn2r53	T	C	7: 12,340,281 (GRCm39)	Q64R	probably benign	Het
Vmn2r95	G	T	17: 18,672,544 (GRCm39)	L760F	probably damaging	Het
Wdr97	T	C	15: 76,247,629 (GRCm39)		probably null	Het
Xdh	C	A	17: 74,213,053 (GRCm39)	E863D	probably benign	Het
Ykt6	A	G	11: 5,912,407 (GRCm39)	Y120C	possibly damaging	Het
Zranb2	A	G	3: 157,251,745 (GRCm39)	*321W	probably null	Het

Other mutations in Prokr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Prokr1	APN	6	87,565,593 (GRCm39)	missense	probably damaging	1.00
IGL00838:Prokr1	APN	6	87,565,675 (GRCm39)	missense	possibly damaging	0.94
IGL01083:Prokr1	APN	6	87,565,766 (GRCm39)	missense	probably benign	0.41
IGL02677:Prokr1	APN	6	87,565,350 (GRCm39)	splice site	probably benign
IGL03344:Prokr1	APN	6	87,565,482 (GRCm39)	missense	possibly damaging	0.95
R1953:Prokr1	UTSW	6	87,565,575 (GRCm39)	missense	probably benign	0.18
R2065:Prokr1	UTSW	6	87,565,695 (GRCm39)	missense	probably damaging	0.98
R3161:Prokr1	UTSW	6	87,565,413 (GRCm39)	missense	probably damaging	1.00
R4777:Prokr1	UTSW	6	87,565,842 (GRCm39)	start codon destroyed	probably null	0.98
R4828:Prokr1	UTSW	6	87,558,224 (GRCm39)	missense	probably benign	0.07
R4890:Prokr1	UTSW	6	87,565,678 (GRCm39)	missense	probably benign	0.00
R4943:Prokr1	UTSW	6	87,558,806 (GRCm39)	missense	possibly damaging	0.90
R6134:Prokr1	UTSW	6	87,565,837 (GRCm39)	missense	possibly damaging	0.54
R6183:Prokr1	UTSW	6	87,565,834 (GRCm39)	missense	possibly damaging	0.94
R6329:Prokr1	UTSW	6	87,558,774 (GRCm39)	missense	possibly damaging	0.94
R6794:Prokr1	UTSW	6	87,565,675 (GRCm39)	missense	possibly damaging	0.94
R6922:Prokr1	UTSW	6	87,565,455 (GRCm39)	missense	probably damaging	1.00
R8428:Prokr1	UTSW	6	87,565,756 (GRCm39)	missense	probably benign
R9369:Prokr1	UTSW	6	87,558,407 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACAAGTTCATGGCTGCTGTGTG -3'
(R):5'- CTTCCAGACAGAGCAGATCC -3'

Sequencing Primer
(F):5'- GCTTATTTCAGTCGGATGC -3'
(R):5'- CTCTGCCTATGTGCTGTGCTG -3'

Posted On

2021-01-18