Mutagenetix > Incidental Mutation

Incidental Mutation 'R0135:Vipr2'

21904

Institutional Source

Beutler Lab

Gene Symbol

Vipr2

Ensembl Gene

ENSMUSG00000011171

Gene Name

vasoactive intestinal peptide receptor 2

Synonyms

VPAC2R, VPAC2, VIP receptor subtype 2, Vip2

MMRRC Submission

038420-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0135 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

116041346-116109881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116106447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 348 (I348V)

Ref Sequence

ENSEMBL: ENSMUSP00000011315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011315]

AlphaFold

P41588

Predicted Effect

probably benign
Transcript: ENSMUST00000011315
AA Change: I348V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000011315
Gene: ENSMUSG00000011171
AA Change: I348V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
HormR	47	117	8.35e-25	SMART
Pfam:7tm_2	122	370	1.5e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176078

Predicted Effect

unknown
Transcript: ENSMUST00000176433
AA Change: I88V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177059

Meta Mutation Damage Score

0.1087

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.6%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit enhanced delayed-type hypersensitivity (type IV) and reduced immediate-type hypersensitivity (type I). [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
4932438H23Rik	A	G	16: 90,852,515 (GRCm39)	F207S	probably damaging	Het
Abhd8	T	A	8: 71,910,718 (GRCm39)	K363N	probably benign	Het
Adam11	T	A	11: 102,667,399 (GRCm39)	V653E	probably damaging	Het
Adam18	T	C	8: 25,155,558 (GRCm39)	S154G	possibly damaging	Het
Adamts1	T	C	16: 85,595,591 (GRCm39)		probably benign	Het
Afm	G	T	5: 90,698,181 (GRCm39)	V528L	probably benign	Het
Alox12b	C	T	11: 69,053,574 (GRCm39)	H145Y	probably benign	Het
Ankmy2	C	A	12: 36,220,434 (GRCm39)		probably benign	Het
Aox3	G	A	1: 58,164,247 (GRCm39)		probably benign	Het
Arhgap28	T	C	17: 68,171,583 (GRCm39)	D396G	probably damaging	Het
B430203G13Rik	T	C	12: 17,974,489 (GRCm39)		noncoding transcript	Het
Bean1	C	T	8: 104,943,807 (GRCm39)	P121S	probably damaging	Het
Bok	T	C	1: 93,614,229 (GRCm39)	S21P	probably damaging	Het
Brwd1	A	C	16: 95,848,304 (GRCm39)	N572K	probably damaging	Het
C5ar1	A	T	7: 15,982,864 (GRCm39)	V52E	probably damaging	Het
Cblif	G	T	19: 11,735,118 (GRCm39)	C246F	probably damaging	Het
Cdr2l	C	A	11: 115,284,497 (GRCm39)	P278T	probably damaging	Het
Cnga4	T	A	7: 105,056,055 (GRCm39)	I219N	probably damaging	Het
Cpne2	C	T	8: 95,281,553 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,085,379 (GRCm39)	S1057P	possibly damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dgcr2	A	G	16: 17,676,306 (GRCm39)	S152P	probably damaging	Het
Dstyk	A	T	1: 132,390,672 (GRCm39)	D828V	probably damaging	Het
Eml2	T	C	7: 18,937,877 (GRCm39)	S582P	probably damaging	Het
Engase	T	C	11: 118,375,304 (GRCm39)	Y359H	possibly damaging	Het
Fat3	T	C	9: 15,918,073 (GRCm39)	D1450G	probably damaging	Het
Fbxw8	A	T	5: 118,208,552 (GRCm39)	I467N	probably damaging	Het
Fhdc1	A	T	3: 84,352,925 (GRCm39)	Y767N	probably damaging	Het
Flii	T	C	11: 60,614,204 (GRCm39)	D105G	probably damaging	Het
Gaa	C	T	11: 119,169,716 (GRCm39)	T590I	probably benign	Het
Gabrr1	T	A	4: 33,160,224 (GRCm39)	S303T	probably damaging	Het
Garre1	T	C	7: 33,945,382 (GRCm39)	I499M	probably damaging	Het
Glp1r	A	G	17: 31,143,551 (GRCm39)	I196V	probably benign	Het
Grm6	G	A	11: 50,744,050 (GRCm39)	E174K	probably damaging	Het
Helz2	A	C	2: 180,874,062 (GRCm39)	L2144R	probably damaging	Het
Itpr1	A	T	6: 108,465,443 (GRCm39)		probably benign	Het
Kcns1	A	T	2: 164,006,875 (GRCm39)	S363T	possibly damaging	Het
Kif13a	A	T	13: 46,947,419 (GRCm39)	V855E	probably damaging	Het
Krt42	T	C	11: 100,153,985 (GRCm39)	T424A	possibly damaging	Het
Lct	A	T	1: 128,212,860 (GRCm39)	F1931Y	probably damaging	Het
Lrp1b	A	T	2: 41,159,251 (GRCm39)	V1563E	probably damaging	Het
Lrrc37	C	A	11: 103,508,873 (GRCm39)		probably benign	Het
Lzts2	T	C	19: 45,014,626 (GRCm39)		probably benign	Het
Mamdc4	C	T	2: 25,456,932 (GRCm39)	R615Q	possibly damaging	Het
Mei1	C	T	15: 81,956,170 (GRCm39)	Q133*	probably null	Het
Mif4gd	T	C	11: 115,499,291 (GRCm39)	E197G	probably damaging	Het
Ncdn	A	T	4: 126,640,462 (GRCm39)	S544T	probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Or52a5	T	A	7: 103,426,970 (GRCm39)	D194V	probably damaging	Het
Padi6	T	C	4: 140,464,663 (GRCm39)	T114A	probably benign	Het
Pigk	G	T	3: 152,450,343 (GRCm39)		probably benign	Het
Pkd1	T	A	17: 24,784,045 (GRCm39)	F197Y	possibly damaging	Het
Pld5	A	T	1: 175,798,155 (GRCm39)	F415I	probably damaging	Het
Pnpla5	A	G	15: 83,998,150 (GRCm39)	L364P	probably damaging	Het
Prrc2c	G	A	1: 162,543,052 (GRCm39)		probably benign	Het
Rab32	C	T	10: 10,426,584 (GRCm39)	D121N	probably damaging	Het
Rab44	A	T	17: 29,357,106 (GRCm39)	T79S	probably benign	Het
Reln	G	T	5: 22,333,647 (GRCm39)	N258K	probably damaging	Het
Retsat	A	G	6: 72,579,755 (GRCm39)	T177A	probably damaging	Het
Serpinf2	T	A	11: 75,327,219 (GRCm39)	H236L	probably damaging	Het
Slc26a6	A	T	9: 108,737,794 (GRCm39)		probably benign	Het
Slitrk1	T	A	14: 109,149,061 (GRCm39)	E550V	probably benign	Het
Smarcd3	A	T	5: 24,800,497 (GRCm39)		probably benign	Het
Spdye4a	A	C	5: 143,210,857 (GRCm39)		probably null	Het
Susd2	C	T	10: 75,474,348 (GRCm39)	G572D	probably damaging	Het
Tcaf3	C	T	6: 42,566,692 (GRCm39)	R799K	probably benign	Het
Tg	A	G	15: 66,566,719 (GRCm39)	S1256G	probably benign	Het
Them4	A	T	3: 94,230,877 (GRCm39)		probably benign	Het
Tmem210	C	T	2: 25,178,480 (GRCm39)	A47V	probably damaging	Het
Tnfrsf1b	A	G	4: 144,955,616 (GRCm39)	Y47H	probably benign	Het
Tnik	T	G	3: 28,661,394 (GRCm39)	N598K	possibly damaging	Het
Ttc3	A	G	16: 94,263,127 (GRCm39)	N1498D	possibly damaging	Het
Ttll4	C	A	1: 74,719,087 (GRCm39)	H313N	possibly damaging	Het
Vps13a	A	G	19: 16,758,129 (GRCm39)	V2A	probably damaging	Het
Vps72	G	A	3: 95,026,508 (GRCm39)	R151K	probably damaging	Het
Zfp106	A	G	2: 120,350,968 (GRCm39)	V1561A	probably damaging	Het
Zfp658	C	A	7: 43,223,019 (GRCm39)	Y431*	probably null	Het
Zkscan2	T	C	7: 123,079,864 (GRCm39)	K698E	possibly damaging	Het

Other mutations in Vipr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00691:Vipr2	APN	12	116,102,368 (GRCm39)	splice site	probably null
IGL02233:Vipr2	APN	12	116,058,356 (GRCm39)	missense	probably damaging	0.99
IGL02691:Vipr2	APN	12	116,099,849 (GRCm39)	missense	probably benign	0.11
PIT4377001:Vipr2	UTSW	12	116,058,418 (GRCm39)	missense	probably benign	0.01
R0207:Vipr2	UTSW	12	116,106,502 (GRCm39)	missense	probably damaging	1.00
R1389:Vipr2	UTSW	12	116,100,950 (GRCm39)	missense	probably benign	0.01
R1560:Vipr2	UTSW	12	116,058,401 (GRCm39)	missense	probably benign	0.18
R1575:Vipr2	UTSW	12	116,107,892 (GRCm39)	missense	probably benign
R1696:Vipr2	UTSW	12	116,102,777 (GRCm39)	missense	probably benign	0.13
R1970:Vipr2	UTSW	12	116,099,826 (GRCm39)	missense	probably benign	0.01
R2010:Vipr2	UTSW	12	116,086,430 (GRCm39)	critical splice donor site	probably null
R3873:Vipr2	UTSW	12	116,099,724 (GRCm39)	unclassified	probably benign
R4713:Vipr2	UTSW	12	116,043,751 (GRCm39)	missense	probably benign	0.00
R4953:Vipr2	UTSW	12	116,107,876 (GRCm39)	missense	probably benign	0.07
R6041:Vipr2	UTSW	12	116,106,604 (GRCm39)	missense	probably damaging	1.00
R6337:Vipr2	UTSW	12	116,086,363 (GRCm39)	nonsense	probably null
R6902:Vipr2	UTSW	12	116,102,819 (GRCm39)	missense	possibly damaging	0.46
R6946:Vipr2	UTSW	12	116,102,819 (GRCm39)	missense	possibly damaging	0.46
R7763:Vipr2	UTSW	12	116,086,338 (GRCm39)	missense	probably damaging	1.00
R9339:Vipr2	UTSW	12	116,058,344 (GRCm39)	missense	probably damaging	0.96
R9523:Vipr2	UTSW	12	116,093,788 (GRCm39)	missense	probably damaging	1.00
X0066:Vipr2	UTSW	12	116,106,565 (GRCm39)	splice site	probably null
X0067:Vipr2	UTSW	12	116,102,792 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATTCTGCCCAAGCGTGCAAAG -3'
(R):5'- TGACCCAACGTCAGTGCCAAATTC -3'

Sequencing Primer
(F):5'- AAGCGGGTTCACAGGCAC -3'
(R):5'- AGCTGACAAAGGACTTACCTC -3'

Posted On

2013-04-12