Mutagenetix > Incidental Mutation

Incidental Mutation 'R7736:Prokr2'

596232

Institutional Source

Beutler Lab

Gene Symbol

Prokr2

Ensembl Gene

ENSMUSG00000050558

Gene Name

prokineticin receptor 2

Synonyms

Gpcr73l1, EG-VEGRF2, B830005M06Rik, PKR2, Gpr73l1

MMRRC Submission

045792-MU

Accession Numbers

Essential gene?

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

Stock #

R7736 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132211625-132227413 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 132223500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 14 (L14*)

Ref Sequence

ENSEMBL: ENSMUSP00000056659 (fasta)

Gene Model

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

AlphaFold

Q8K458

Predicted Effect

probably null
Transcript: ENSMUST00000049997
AA Change: L14*

SMART Domains

Protein: ENSMUSP00000056659
Gene: ENSMUSG00000050558
AA Change: L14*

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 null
Transcript: ENSMUST00000110156
AA Change: L14*

SMART Domains

Protein: ENSMUSP00000105784
Gene: ENSMUSG00000050558
AA Change: L14*

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 null
Transcript: ENSMUST00000110157
AA Change: L14*

SMART Domains

Protein: ENSMUSP00000105785
Gene: ENSMUSG00000050558
AA Change: L14*

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 null
Transcript: ENSMUST00000145995
AA Change: L14*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,359,123 (GRCm39)	D561A	probably benign	Het
Adgrg1	T	C	8: 95,731,965 (GRCm39)	F204S	probably benign	Het
Apoa2	T	C	1: 171,053,741 (GRCm39)	L72P	probably damaging	Het
Arhgef10	A	T	8: 15,030,583 (GRCm39)	K987*	probably null	Het
Arrb1	A	G	7: 99,188,981 (GRCm39)	D9G	unknown	Het
Asph	A	G	4: 9,621,930 (GRCm39)	S192P	possibly damaging	Het
Bcas1	G	A	2: 170,229,084 (GRCm39)	T309M	possibly damaging	Het
Bcat2	C	T	7: 45,234,617 (GRCm39)	T166M	possibly damaging	Het
Bmp5	A	T	9: 75,801,072 (GRCm39)	I401L	probably damaging	Het
Bpifb9b	G	A	2: 154,154,025 (GRCm39)	G261R	probably benign	Het
Cd53	T	A	3: 106,675,252 (GRCm39)	Y106F	probably benign	Het
Cdhr3	T	A	12: 33,103,519 (GRCm39)	D366V	probably benign	Het
Ceacam10	G	C	7: 24,480,636 (GRCm39)	V256L	unknown	Het
Cilp2	A	G	8: 70,334,071 (GRCm39)	Y976H	probably damaging	Het
Cklf	A	G	8: 104,988,187 (GRCm39)	T107A	possibly damaging	Het
Dhx16	T	A	17: 36,192,568 (GRCm39)	W167R	possibly damaging	Het
Dkk2	T	G	3: 131,883,775 (GRCm39)	L225R	probably damaging	Het
Dmbt1	A	T	7: 130,718,625 (GRCm39)	D1782V	unknown	Het
Ebag9	A	T	15: 44,491,800 (GRCm39)	D64V	probably damaging	Het
Eif3j2	T	C	18: 43,610,382 (GRCm39)	N144D	possibly damaging	Het
Elp1	T	C	4: 56,776,920 (GRCm39)	T626A	possibly damaging	Het
Foxk2	A	T	11: 121,190,473 (GRCm39)	Q538L	possibly damaging	Het
Fpgt	T	G	3: 154,792,747 (GRCm39)	I427L	probably benign	Het
Ganc	A	T	2: 120,264,295 (GRCm39)	N416I	possibly damaging	Het
Gata6	A	G	18: 11,084,379 (GRCm39)	Y556C	probably damaging	Het
Gga2	A	T	7: 121,589,747 (GRCm39)	V534E	probably damaging	Het
Gm7324	T	A	14: 43,952,256 (GRCm39)	S300T	possibly damaging	Het
Gprc6a	A	C	10: 51,491,549 (GRCm39)	N733K	possibly damaging	Het
Hivep3	C	T	4: 119,952,740 (GRCm39)	T352I	possibly damaging	Het
Ift88	T	G	14: 57,683,121 (GRCm39)	V266G	probably benign	Het
Ip6k1	G	T	9: 107,922,891 (GRCm39)	G341V	probably damaging	Het
Itga3	G	T	11: 94,967,029 (GRCm39)	A45E	probably damaging	Het
Kctd14	T	A	7: 97,107,147 (GRCm39)	L134Q	probably damaging	Het
Lats1	C	A	10: 7,578,128 (GRCm39)	N417K	probably damaging	Het
Lrrc37a	T	C	11: 103,388,285 (GRCm39)	H2380R	unknown	Het
Lrrc4c	A	G	2: 97,460,705 (GRCm39)	T444A	probably benign	Het
M1ap	T	C	6: 82,982,565 (GRCm39)	I283T	probably benign	Het
Mapre2	T	C	18: 24,011,012 (GRCm39)	S207P	probably benign	Het
Moxd1	T	C	10: 24,158,608 (GRCm39)	F421L	probably damaging	Het
Nos2	T	A	11: 78,813,192 (GRCm39)	C33*	probably null	Het
Or14j4	A	T	17: 37,921,303 (GRCm39)	L113H	probably damaging	Het
Or1j16	A	T	2: 36,530,197 (GRCm39)	I49F	probably damaging	Het
Or5g26	T	C	2: 85,494,758 (GRCm39)	T7A	probably damaging	Het
Otud4	T	C	8: 80,382,394 (GRCm39)	I201T	possibly damaging	Het
Pank4	T	C	4: 155,054,204 (GRCm39)	Y128H	probably benign	Het
Phf11	C	T	14: 59,488,594 (GRCm39)	D68N	probably benign	Het
Pitpnm2	A	G	5: 124,261,093 (GRCm39)	V1027A	possibly damaging	Het
Plcb3	A	G	19: 6,946,991 (GRCm39)	V8A	probably benign	Het
Por	A	G	5: 135,759,976 (GRCm39)	E221G	probably damaging	Het
Ptgis	A	G	2: 167,033,891 (GRCm39)	F459S	unknown	Het
Ptpru	T	C	4: 131,515,693 (GRCm39)	E887G	probably damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Slc18a1	A	G	8: 69,518,206 (GRCm39)		probably null	Het
Slc27a3	A	G	3: 90,296,740 (GRCm39)	S120P	probably benign	Het
Slc2a12	T	A	10: 22,540,717 (GRCm39)	Y191N	probably damaging	Het
Snx29	T	A	16: 11,185,588 (GRCm39)	M57K	probably benign	Het
Syncrip	A	G	9: 88,343,721 (GRCm39)		probably null	Het
Taar4	T	A	10: 23,836,897 (GRCm39)	V169E	probably damaging	Het
Tas1r1	C	T	4: 152,116,923 (GRCm39)	G237D	probably benign	Het
Tle1	T	C	4: 72,117,571 (GRCm39)	K30E	probably damaging	Het
Tmem131l	A	T	3: 83,847,875 (GRCm39)	L330Q	probably damaging	Het
Tmem67	A	G	4: 12,053,455 (GRCm39)	F698L	probably benign	Het
Ttn	T	A	2: 76,739,574 (GRCm39)	Q3701L	unknown	Het
Vmn2r17	G	A	5: 109,600,757 (GRCm39)	R685K	probably benign	Het
Ylpm1	C	A	12: 85,059,757 (GRCm39)	A321E	unknown	Het
Zdbf2	T	A	1: 63,347,166 (GRCm39)	Y1848*	probably null	Het
Zfand2b	T	A	1: 75,146,176 (GRCm39)	N61K	probably null	Het
Zfp867	C	T	11: 59,354,016 (GRCm39)	A438T	probably damaging	Het
Zkscan14	G	A	5: 145,132,319 (GRCm39)	T404I	probably benign	Het
Zrsr2-ps1	C	T	11: 22,923,510 (GRCm39)	Q95*	probably null	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
R5997:Prokr2	UTSW	2	132,223,362 (GRCm39)	missense	probably damaging	0.99
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
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'- AAAGTTGCCAATGCCGCAG -3'
(R):5'- TGTACCTAGCTAACTCTTGGGG -3'

Sequencing Primer
(F):5'- AGACCAGCATGATGCCTG -3'
(R):5'- CCAGATCTGATGTTTGCTGACCAG -3'

Posted On

2019-11-26