Mutagenetix > Incidental Mutation

Incidental Mutation 'R3161:Prokr1'

258159

Institutional Source

Beutler Lab

Gene Symbol

Prokr1

Ensembl Gene

ENSMUSG00000049409

Gene Name

prokineticin receptor 1

Synonyms

Pkr1, Gpr73, EG-VEGFR1

MMRRC Submission

040612-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3161 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87555573-87567725 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87565413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 144 (R144H)

Ref Sequence

ENSEMBL: ENSMUSP00000144999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050887] [ENSMUST00000203636] [ENSMUST00000204682]

AlphaFold

Q9JKL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000050887
AA Change: R144H

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

SMART Domains

Protein: ENSMUSP00000059034
Gene: ENSMUSG00000049409
AA Change: R144H

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

unknown
Transcript: ENSMUST00000203636
AA Change: V106I

SMART Domains

Protein: ENSMUSP00000145476
Gene: ENSMUSG00000049409
AA Change: V106I

Domain	Start	End	E-Value	Type
low complexity region	100	113	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000204682
AA Change: R144H

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

SMART Domains

Protein: ENSMUSP00000144999
Gene: ENSMUSG00000049409
AA Change: R144H

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

Meta Mutation Damage Score

0.1516

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (54/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,053,833 (GRCm39)		probably benign	Het
1700066M21Rik	T	A	1: 57,422,234 (GRCm39)	N203K	probably benign	Het
Adcy9	A	G	16: 4,129,452 (GRCm39)	L715P	probably damaging	Het
Adgrl2	G	A	3: 148,523,187 (GRCm39)	L1354F	probably damaging	Het
Amer2	A	G	14: 60,616,000 (GRCm39)	D65G	probably damaging	Het
Aox1	G	T	1: 58,343,597 (GRCm39)	V427L	possibly damaging	Het
Atad2b	C	A	12: 4,989,689 (GRCm39)	N133K	possibly damaging	Het
Bptf	A	T	11: 106,965,302 (GRCm39)	D1182E	probably damaging	Het
Camk1g	T	C	1: 193,042,115 (GRCm39)	T45A	possibly damaging	Het
Caps2	C	A	10: 112,018,391 (GRCm39)	Y180*	probably null	Het
Cfap54	T	A	10: 92,881,140 (GRCm39)	K349N	probably damaging	Het
Chct1	A	G	11: 85,064,110 (GRCm39)	S84G	probably damaging	Het
Ciz1	A	G	2: 32,260,075 (GRCm39)	D207G	probably benign	Het
Copa	T	A	1: 171,918,800 (GRCm39)	C127S	probably damaging	Het
Crabp2	A	T	3: 87,859,484 (GRCm39)	K45*	probably null	Het
Daam1	C	A	12: 71,993,872 (GRCm39)	T425K	unknown	Het
Dapk2	T	G	9: 66,161,893 (GRCm39)	V267G	probably damaging	Het
Disp1	T	C	1: 182,868,806 (GRCm39)	K1205E	probably benign	Het
Dlg4	G	C	11: 69,908,051 (GRCm39)	R4T	probably damaging	Het
Fbf1	A	G	11: 116,039,046 (GRCm39)	I743T	probably damaging	Het
Fen1	A	G	19: 10,177,655 (GRCm39)	L263P	probably damaging	Het
G6pc2	A	G	2: 69,050,456 (GRCm39)	N27S	probably damaging	Het
Garnl3	A	T	2: 32,924,723 (GRCm39)	N246K	probably damaging	Het
Gm7337	A	C	5: 87,999,416 (GRCm39)		noncoding transcript	Het
Gpr152	A	G	19: 4,192,713 (GRCm39)	T85A	probably benign	Het
Hnrnpu	T	C	1: 178,158,690 (GRCm39)		probably benign	Het
Ighv1-81	C	G	12: 115,883,949 (GRCm39)	E101Q	probably benign	Het
Ipo9	T	C	1: 135,337,214 (GRCm39)	T174A	probably benign	Het
Myo9a	C	T	9: 59,739,598 (GRCm39)		probably benign	Het
Nup155	G	T	15: 8,177,867 (GRCm39)	R1083S	possibly damaging	Het
Or11g24	T	A	14: 50,662,488 (GRCm39)	C171S	probably damaging	Het
Or5an1c	T	C	19: 12,218,860 (GRCm39)	H55R	probably benign	Het
Or6d13	C	T	6: 116,517,807 (GRCm39)	A131V	probably damaging	Het
Or7a35	C	A	10: 78,853,438 (GRCm39)	T94N	probably benign	Het
Phyh	T	A	2: 4,942,482 (GRCm39)		probably benign	Het
Pkp4	G	T	2: 59,138,449 (GRCm39)	R233M	probably damaging	Het
Plcb1	A	T	2: 135,177,402 (GRCm39)	Q578L	probably benign	Het
Ppil3	A	T	1: 58,473,573 (GRCm39)	N92K	probably benign	Het
Psap	T	C	10: 60,113,575 (GRCm39)	L4P	possibly damaging	Het
Rai14	T	C	15: 10,633,250 (GRCm39)	T47A	possibly damaging	Het
Rps2	G	T	17: 24,939,952 (GRCm39)	A129S	probably benign	Het
Sult2a4	T	C	7: 13,723,396 (GRCm39)	T40A	probably benign	Het
Tacr2	A	G	10: 62,101,024 (GRCm39)	D378G	probably benign	Het
Topaz1	T	C	9: 122,578,446 (GRCm39)	I452T	probably benign	Het
Ttn	A	G	2: 76,663,581 (GRCm39)		probably benign	Het
Vmn2r115	T	A	17: 23,575,998 (GRCm39)	M532K	possibly damaging	Het
Vmn2r117	A	G	17: 23,679,352 (GRCm39)	L624P	probably damaging	Het
Vstm5	T	G	9: 15,168,594 (GRCm39)	S53A	probably benign	Het
Wipf1	C	T	2: 73,265,293 (GRCm39)	E437K	probably damaging	Het
Wls	G	T	3: 159,603,073 (GRCm39)	C162F	probably damaging	Het
Yeats2	T	C	16: 20,012,395 (GRCm39)	V531A	probably damaging	Het
Zfp868	A	G	8: 70,064,736 (GRCm39)	S200P	probably benign	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
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
R8478:Prokr1	UTSW	6	87,558,330 (GRCm39)	missense	probably benign	0.01
R9369:Prokr1	UTSW	6	87,558,407 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGATGTCCAGTCAGTAGGCTTTTG -3'
(R):5'- GTGGCATCGGCAACTTCATC -3'

Sequencing Primer
(F):5'- CAGTCAGTAGGCTTTTGAGTCCC -3'
(R):5'- GTGGCATCGGCAACTTCATCTTTATC -3'

Posted On

2015-01-23