Mutagenetix > Incidental Mutation

Incidental Mutation 'R6902:Vipr2'

538610

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

045032-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6902 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116041346-116109881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116102819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 310 (T310S)

Ref Sequence

ENSEMBL: ENSMUSP00000011315 (fasta)

Gene Model

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

AlphaFold

P41588

Predicted Effect

possibly damaging
Transcript: ENSMUST00000011315
AA Change: T310S

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000011315
Gene: ENSMUSG00000011171
AA Change: T310S

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

Meta Mutation Damage Score

0.0799

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

98% (50/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	G	13: 119,624,680 (GRCm39)		probably benign	Het
Abcc9	T	A	6: 142,624,953 (GRCm39)	S481C	probably damaging	Het
Adgrl3	C	A	5: 81,837,434 (GRCm39)	S773R	probably damaging	Het
Alkbh5	G	A	11: 60,429,381 (GRCm39)	A45T	probably benign	Het
Ankrd6	C	A	4: 32,806,419 (GRCm39)	Q576H	probably damaging	Het
Ankrd6	T	A	4: 32,806,420 (GRCm39)	Q576L	probably damaging	Het
Carmil1	T	C	13: 24,299,528 (GRCm39)	N332S	possibly damaging	Het
Cc2d2b	A	G	19: 40,804,733 (GRCm39)	Q1250R	possibly damaging	Het
Chd9	A	C	8: 91,769,579 (GRCm39)	N2539T	probably damaging	Het
Clec4b2	C	T	6: 123,177,987 (GRCm39)	Q101*	probably null	Het
Clstn2	A	T	9: 97,351,875 (GRCm39)	F517I	probably damaging	Het
Cog2	A	G	8: 125,273,430 (GRCm39)	K590E	probably damaging	Het
Coq9	G	A	8: 95,577,180 (GRCm39)	E182K	probably benign	Het
Fcgbpl1	C	T	7: 27,836,638 (GRCm39)	R186C	probably damaging	Het
Focad	C	T	4: 88,148,713 (GRCm39)	R477C	unknown	Het
Gja10	G	T	4: 32,601,905 (GRCm39)	H160N	probably damaging	Het
Gpr132	T	A	12: 112,815,830 (GRCm39)	Y332F	probably benign	Het
Herc2	A	G	7: 55,785,234 (GRCm39)	T1495A	probably benign	Het
Hivep3	T	A	4: 119,953,192 (GRCm39)	S503T	possibly damaging	Het
Ifi44	A	T	3: 151,451,536 (GRCm39)	I190N	possibly damaging	Het
Igf1r	T	A	7: 67,653,911 (GRCm39)	C150S	probably damaging	Het
Ighv1-42	T	A	12: 114,901,155 (GRCm39)	N4Y	possibly damaging	Het
Klra9	T	A	6: 130,156,003 (GRCm39)	I251F	probably benign	Het
Krt79	T	C	15: 101,840,314 (GRCm39)	N294S	probably benign	Het
Lama2	T	G	10: 26,857,625 (GRCm39)	T3075P	probably damaging	Het
Lrfn1	T	G	7: 28,159,238 (GRCm39)	C386G	probably benign	Het
Lrp2	T	C	2: 69,289,847 (GRCm39)	D3664G	probably damaging	Het
Mfsd3	T	A	15: 76,587,349 (GRCm39)	M344K	probably damaging	Het
Mier2	C	A	10: 79,376,673 (GRCm39)		probably benign	Het
Mmp2	G	A	8: 93,563,545 (GRCm39)	V340M	probably damaging	Het
Mrgprb3	T	A	7: 48,293,447 (GRCm39)	I35F	probably benign	Het
Myo5b	A	T	18: 74,809,756 (GRCm39)	I613F	possibly damaging	Het
Nicol1	G	A	5: 34,140,923 (GRCm39)		probably benign	Het
Or14c43	T	A	7: 86,114,995 (GRCm39)	C125*	probably null	Het
Or51f1e	A	T	7: 102,747,562 (GRCm39)	I205F	probably benign	Het
Or7d11	A	T	9: 19,966,670 (GRCm39)	L30M	possibly damaging	Het
Or8g30	C	A	9: 39,230,315 (GRCm39)	L198F	probably damaging	Het
Pan2	A	G	10: 128,151,506 (GRCm39)	T867A	probably benign	Het
Papolb	T	A	5: 142,513,906 (GRCm39)	H579L	probably benign	Het
Pcf11	C	A	7: 92,307,507 (GRCm39)	G887V	probably damaging	Het
Pdzd8	A	G	19: 59,289,829 (GRCm39)	S524P	possibly damaging	Het
Pole3	T	C	4: 62,442,300 (GRCm39)		probably benign	Het
Prdm14	C	T	1: 13,192,645 (GRCm39)	V365I	probably benign	Het
Shank1	T	A	7: 44,006,239 (GRCm39)	F1985L	probably benign	Het
Slc13a1	T	C	6: 24,097,665 (GRCm39)	I421V	possibly damaging	Het
Slc2a6	C	T	2: 26,913,172 (GRCm39)	V374M	probably benign	Het
Spata1	A	T	3: 146,181,078 (GRCm39)	N293K	possibly damaging	Het
Stk40	T	A	4: 126,031,605 (GRCm39)	D366E	probably benign	Het
Tas2r117	T	C	6: 132,780,288 (GRCm39)	L142S	probably damaging	Het
Tomm70a	T	C	16: 56,958,444 (GRCm39)	S266P	probably damaging	Het
Trgv1	T	C	13: 19,524,190 (GRCm39)	L2P	probably benign	Het
Vti1a	A	T	19: 55,487,673 (GRCm39)		probably null	Het
Zfp961	A	G	8: 72,722,522 (GRCm39)	K345R	probably 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
R0135:Vipr2	UTSW	12	116,106,447 (GRCm39)	missense	probably benign	0.00
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
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'- CACAACTTTATGCAGTAGTACCCTC -3'
(R):5'- AGACTCCAGTGTCAGTGCAC -3'

Sequencing Primer
(F):5'- TATGCAGTAGTACCCTCAATGC -3'
(R):5'- CAGTGCACGTTGAGCCTTAGAG -3'

Posted On

2018-11-06