Mutagenetix > Incidental Mutation

Incidental Mutation 'R5997:Prokr2'

480597

Institutional Source

Beutler Lab

Gene Symbol

Prokr2

Ensembl Gene

ENSMUSG00000050558

Gene Name

prokineticin receptor 2

Synonyms

Gpcr73l1, EG-VEGRF2, B830005M06Rik, PKR2, Gpr73l1

MMRRC Submission

044176-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R5997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132211625-132227413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 132223362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 60 (I60S)

Ref Sequence

ENSEMBL: ENSMUSP00000105785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049997] [ENSMUST00000110156] [ENSMUST00000110157] [ENSMUST00000142766] [ENSMUST00000145995]

AlphaFold

Q8K458

Predicted Effect

probably damaging
Transcript: ENSMUST00000049997
AA Change: I60S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056659
Gene: ENSMUSG00000050558
AA Change: I60S

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	61	349	3.3e-7	PFAM
Pfam:7tm_1	67	330	8.2e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110156
AA Change: I60S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105784
Gene: ENSMUSG00000050558
AA Change: I60S

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	61	349	3.3e-7	PFAM
Pfam:7tm_1	67	330	1.7e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110157
AA Change: I60S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105785
Gene: ENSMUSG00000050558
AA Change: I60S

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	61	153	5.2e-7	PFAM
Pfam:7tm_1	67	155	1.7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142766

SMART Domains

Protein: ENSMUSP00000124526
Gene: ENSMUSG00000050558

Domain	Start	End	E-Value	Type
Pfam:7tm_1	1	169	4.9e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145995

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.5%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show 50% neonatal lethality, olfactory bulb malformation, and reproductive system atrophy related to a lack of hypothalamic gonadotropin-releasing hormone synthesizing neurons. Homozygotes for another null allele show impaired circadian behavior and thermoregulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	T	5: 124,227,878 (GRCm39)	V121E	possibly damaging	Het
Acsbg3	A	T	17: 57,183,373 (GRCm39)	D38V	probably benign	Het
Adamts20	T	A	15: 94,277,628 (GRCm39)	Y278F	probably damaging	Het
Adcy7	A	T	8: 89,053,020 (GRCm39)	D972V	probably benign	Het
Adgrf3	C	A	5: 30,403,360 (GRCm39)		probably null	Het
Ahdc1	G	T	4: 132,791,206 (GRCm39)	G816C	probably benign	Het
Aifm3	A	G	16: 17,319,994 (GRCm39)	K283E	probably benign	Het
Akap6	T	C	12: 52,984,016 (GRCm39)		probably null	Het
Ank1	T	C	8: 23,589,678 (GRCm39)	L593P	probably damaging	Het
Apol11b	T	A	15: 77,519,697 (GRCm39)	T128S	probably benign	Het
C1qtnf7	C	A	5: 43,773,427 (GRCm39)	T235K	probably damaging	Het
Camk2a	A	T	18: 61,111,029 (GRCm39)	I73F	probably damaging	Het
Ccdc121rt3	C	T	5: 112,502,874 (GRCm39)	V277M	possibly damaging	Het
Cd109	G	T	9: 78,612,344 (GRCm39)	V1244F	possibly damaging	Het
Cep164	A	G	9: 45,680,761 (GRCm39)	L1240S	possibly damaging	Het
Cnga1	T	A	5: 72,761,918 (GRCm39)	D532V	probably damaging	Het
Cyp4a14	A	T	4: 115,353,297 (GRCm39)	L5*	probably null	Het
Cyp4a30b	A	T	4: 115,316,588 (GRCm39)	K405*	probably null	Het
Dchs1	T	C	7: 105,403,302 (GRCm39)	D3080G	probably benign	Het
Ddx1	T	C	12: 13,287,800 (GRCm39)	D168G	probably damaging	Het
Dhx57	T	G	17: 80,553,235 (GRCm39)	K1231Q	probably damaging	Het
Dnah14	A	G	1: 181,597,670 (GRCm39)	N3640D	probably benign	Het
Dock4	T	A	12: 40,805,833 (GRCm39)	L935Q	probably damaging	Het
Dus2	A	T	8: 106,772,698 (GRCm39)	R269S	probably benign	Het
E230025N22Rik	G	A	18: 36,822,161 (GRCm39)	R201C	possibly damaging	Het
Erbb3	G	A	10: 128,419,054 (GRCm39)	T269M	probably damaging	Het
Fbxo43	T	C	15: 36,162,239 (GRCm39)	R323G	probably damaging	Het
Fktn	A	G	4: 53,735,061 (GRCm39)	H233R	probably benign	Het
Ftsj3	A	T	11: 106,143,077 (GRCm39)	D412E	probably damaging	Het
Fzd7	A	T	1: 59,523,703 (GRCm39)	M529L	probably benign	Het
Fzr1	T	A	10: 81,206,660 (GRCm39)		probably null	Het
Ganc	T	G	2: 120,261,086 (GRCm39)	V257G	possibly damaging	Het
Garin1a	T	A	6: 29,290,423 (GRCm39)	L267*	probably null	Het
Gm4131	T	C	14: 62,702,207 (GRCm39)	K254E	probably damaging	Het
Gm7347	G	T	5: 26,262,247 (GRCm39)	Y91*	probably null	Het
Gm9857	G	A	3: 108,847,481 (GRCm39)		probably benign	Het
Grpel1	T	C	5: 36,622,592 (GRCm39)	S19P	probably benign	Het
Gtf3c4	T	C	2: 28,723,723 (GRCm39)	K670E	possibly damaging	Het
H2bc7	G	A	13: 23,758,277 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,579,924 (GRCm39)	Q1938K	possibly damaging	Het
Hnrnpk	T	C	13: 58,546,971 (GRCm39)	D71G	probably damaging	Het
Hspa4l	G	A	3: 40,722,411 (GRCm39)	R311H	probably damaging	Het
Igkv3-5	T	A	6: 70,640,688 (GRCm39)	F56L	probably benign	Het
Igkv6-20	T	A	6: 70,312,898 (GRCm39)	T92S	possibly damaging	Het
Krt8	C	T	15: 101,909,029 (GRCm39)	V200I	possibly damaging	Het
Lamb2	A	T	9: 108,357,587 (GRCm39)	T66S	possibly damaging	Het
Lamp3	A	G	16: 19,519,778 (GRCm39)	L135S	probably benign	Het
Lrguk	A	G	6: 34,106,078 (GRCm39)	Y701C	probably damaging	Het
Mcc	G	T	18: 44,582,388 (GRCm39)	L588M	probably damaging	Het
Mcidas	T	A	13: 113,135,120 (GRCm39)	L234Q	probably damaging	Het
Mtmr14	T	A	6: 113,257,575 (GRCm39)	L208Q	probably damaging	Het
Myof	A	G	19: 37,893,747 (GRCm39)	F1139L	possibly damaging	Het
Nlrp14	C	A	7: 106,781,703 (GRCm39)	T300K	probably benign	Het
Or2d36	A	T	7: 106,746,535 (GRCm39)	E4V	possibly damaging	Het
Or2m13	T	A	16: 19,226,694 (GRCm39)	H24L	probably benign	Het
Or5b118	A	G	19: 13,448,870 (GRCm39)	I179V	probably benign	Het
Or8b41	A	T	9: 38,055,097 (GRCm39)	Y217F	probably damaging	Het
Orc2	A	G	1: 58,511,547 (GRCm39)	I354T	probably damaging	Het
Pard3b	G	T	1: 62,115,568 (GRCm39)	S140I	probably damaging	Het
Pcgf5	A	G	19: 36,412,003 (GRCm39)	D49G	probably benign	Het
Pcsk6	T	C	7: 65,609,041 (GRCm39)	F388S	probably damaging	Het
Rab33b	A	G	3: 51,391,900 (GRCm39)	T50A	possibly damaging	Het
Rbms3	T	C	9: 116,548,457 (GRCm39)	D61G	probably damaging	Het
Rhcg	T	A	7: 79,250,262 (GRCm39)	K274*	probably null	Het
Rnf112	C	T	11: 61,341,848 (GRCm39)	V319M	possibly damaging	Het
Rnf44	A	T	13: 54,830,613 (GRCm39)	S265T	possibly damaging	Het
Sf3a3	A	G	4: 124,615,851 (GRCm39)	D168G	probably damaging	Het
Sik2	A	G	9: 50,806,642 (GRCm39)		probably null	Het
Slco1a5	T	A	6: 142,198,839 (GRCm39)	L275F	probably benign	Het
Smtnl1	T	C	2: 84,645,722 (GRCm39)	H383R	probably damaging	Het
Spns3	T	G	11: 72,429,904 (GRCm39)	T175P	probably damaging	Het
Togaram1	A	G	12: 65,042,312 (GRCm39)	T1174A	probably benign	Het
Tradd	C	T	8: 105,987,277 (GRCm39)	E10K	possibly damaging	Het
Ttc7b	A	T	12: 100,339,819 (GRCm39)	Y579N	probably damaging	Het
Uncx	G	A	5: 139,533,344 (GRCm39)	G470R	probably damaging	Het
Vav3	T	A	3: 109,408,777 (GRCm39)	M177K	probably damaging	Het
Wfs1	A	T	5: 37,125,094 (GRCm39)	I599N	probably damaging	Het
Zfp454	G	A	11: 50,764,449 (GRCm39)	H217Y	probably damaging	Het

Other mutations in Prokr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Prokr2	APN	2	132,223,424 (GRCm39)	missense	probably benign	0.28
IGL01948:Prokr2	APN	2	132,215,603 (GRCm39)	missense	probably damaging	0.97
IGL02930:Prokr2	APN	2	132,215,394 (GRCm39)	missense	probably benign	0.00
R0092:Prokr2	UTSW	2	132,215,517 (GRCm39)	missense	probably damaging	1.00
R0717:Prokr2	UTSW	2	132,223,254 (GRCm39)	missense	probably damaging	1.00
R1547:Prokr2	UTSW	2	132,215,522 (GRCm39)	missense	probably damaging	1.00
R1573:Prokr2	UTSW	2	132,215,684 (GRCm39)	missense	probably damaging	0.99
R2302:Prokr2	UTSW	2	132,223,104 (GRCm39)	missense	probably damaging	1.00
R2336:Prokr2	UTSW	2	132,223,359 (GRCm39)	missense	probably damaging	0.99
R2483:Prokr2	UTSW	2	132,223,095 (GRCm39)	missense	probably damaging	1.00
R4049:Prokr2	UTSW	2	132,223,414 (GRCm39)	missense	probably benign	0.16
R4518:Prokr2	UTSW	2	132,216,012 (GRCm39)	critical splice acceptor site	probably null
R4947:Prokr2	UTSW	2	132,215,573 (GRCm39)	missense	probably damaging	1.00
R5961:Prokr2	UTSW	2	132,215,595 (GRCm39)	missense	possibly damaging	0.95
R6333:Prokr2	UTSW	2	132,215,898 (GRCm39)	missense	probably damaging	0.98
R6543:Prokr2	UTSW	2	132,215,819 (GRCm39)	missense	probably benign	0.13
R6599:Prokr2	UTSW	2	132,215,469 (GRCm39)	missense	possibly damaging	0.92
R6623:Prokr2	UTSW	2	132,215,494 (GRCm39)	missense	probably damaging	1.00
R7092:Prokr2	UTSW	2	132,223,236 (GRCm39)	missense	possibly damaging	0.88
R7252:Prokr2	UTSW	2	132,223,360 (GRCm39)	missense	probably benign	0.03
R7736:Prokr2	UTSW	2	132,223,500 (GRCm39)	nonsense	probably null
R7767:Prokr2	UTSW	2	132,215,996 (GRCm39)	missense	probably damaging	1.00
R8209:Prokr2	UTSW	2	132,215,961 (GRCm39)	missense	probably damaging	0.98
R8226:Prokr2	UTSW	2	132,215,961 (GRCm39)	missense	probably damaging	0.98
R8511:Prokr2	UTSW	2	132,223,422 (GRCm39)	missense	probably benign	0.00
R8909:Prokr2	UTSW	2	132,215,723 (GRCm39)	missense	probably damaging	0.99
R8931:Prokr2	UTSW	2	132,215,996 (GRCm39)	missense	possibly damaging	0.66
R9240:Prokr2	UTSW	2	132,223,377 (GRCm39)	missense	possibly damaging	0.77
R9342:Prokr2	UTSW	2	132,182,790 (GRCm39)	missense	possibly damaging	0.56
Z1177:Prokr2	UTSW	2	132,215,585 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CGTACGAAGGTAGTTGACGG -3'
(R):5'- TAGCATCATCAACATGGGACC -3'

Sequencing Primer
(F):5'- AAGCACGTGACCATGCG -3'
(R):5'- CCCAGAACAGAAACACTAGCTTTG -3'

Posted On

2017-06-26