Mutagenetix > Incidental Mutation

Incidental Mutation 'R0517:Adcyap1r1'

48225

Institutional Source

Beutler Lab

Gene Symbol

Adcyap1r1

Ensembl Gene

ENSMUSG00000029778

Gene Name

adenylate cyclase activating polypeptide 1 receptor 1

Synonyms

2900024I10Rik, PAC1, PAC1R, PACAP1-R

MMRRC Submission

038710-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

R0517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55428963-55478436 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55468282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 373 (S373T)

Ref Sequence

ENSEMBL: ENSMUSP00000063784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070736] [ENSMUST00000070756] [ENSMUST00000165786] [ENSMUST00000165857] [ENSMUST00000167234] [ENSMUST00000172084]

AlphaFold

P70205

Predicted Effect

probably damaging
Transcript: ENSMUST00000070736
AA Change: S373T

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

SMART Domains

Protein: ENSMUSP00000063784
Gene: ENSMUSG00000029778
AA Change: S373T

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
HormR	50	143	7.2e-29	SMART
Pfam:7tm_2	150	424	3.6e-92	PFAM
low complexity region	474	489	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070756

SMART Domains

Protein: ENSMUSP00000066902
Gene: ENSMUSG00000029778

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
HormR	50	143	7.2e-29	SMART
Pfam:7tm_2	150	396	2.6e-93	PFAM
low complexity region	446	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165786
AA Change: S372T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130923
Gene: ENSMUSG00000029778
AA Change: S372T

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
HormR	50	143	7.2e-29	SMART
Pfam:7tm_2	150	423	2.6e-92	PFAM
low complexity region	473	488	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165857

SMART Domains

Protein: ENSMUSP00000129614
Gene: ENSMUSG00000029778

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
HormR	50	143	7.2e-29	SMART
Pfam:7tm_2	150	424	1.4e-94	PFAM
low complexity region	474	489	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167234
AA Change: S401T

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126994
Gene: ENSMUSG00000029778
AA Change: S401T

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
HormR	50	143	7.2e-29	SMART
Pfam:7tm_2	150	452	1.4e-91	PFAM
low complexity region	502	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172084

SMART Domains

Protein: ENSMUSP00000127319
Gene: ENSMUSG00000029778

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
HormR	50	122	2.15e-27	SMART
Pfam:7tm_2	129	375	9e-94	PFAM
low complexity region	425	440	N/A	INTRINSIC

Meta Mutation Damage Score

0.2075

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of adenylate cyclase activating polypeptide 1 and is positively coupled to adenylate cyclase. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygotes for targeted mutations affect contextual fear conditioning, elevated locomotor activity, anxiety-like behavior, susceptibility to endotoxic shock, circadian responses to a photic stimulus, and glucose tolerance. Some alleles affect female fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	A	17: 37,292,024 (GRCm39)		probably benign	Het
Acer1	T	C	17: 57,262,569 (GRCm39)	T194A	probably benign	Het
Adamts1	C	A	16: 85,597,241 (GRCm39)	D10Y	possibly damaging	Het
Adamts7	T	C	9: 90,081,911 (GRCm39)	V1612A	probably benign	Het
Asic5	A	T	3: 81,916,833 (GRCm39)	I266F	probably benign	Het
Cacna1d	A	T	14: 29,901,232 (GRCm39)	I274K	probably damaging	Het
Camsap2	G	T	1: 136,221,126 (GRCm39)	Q238K	possibly damaging	Het
Ceacam15	A	C	7: 16,407,445 (GRCm39)	L24*	probably null	Het
Cerk	G	A	15: 86,040,849 (GRCm39)	T170I	probably damaging	Het
Cyp27b1	T	C	10: 126,885,985 (GRCm39)		probably null	Het
Cyp2c65	T	C	19: 39,070,792 (GRCm39)		probably benign	Het
Dennd5a	A	G	7: 109,533,968 (GRCm39)	S75P	probably damaging	Het
Dhx9	C	T	1: 153,354,662 (GRCm39)	A146T	possibly damaging	Het
Dpysl5	A	G	5: 30,935,410 (GRCm39)	D171G	probably damaging	Het
Dsg3	A	G	18: 20,662,082 (GRCm39)	N449S	probably benign	Het
Eps8l3	T	C	3: 107,790,776 (GRCm39)	S189P	probably benign	Het
Exph5	A	G	9: 53,284,062 (GRCm39)	E381G	probably benign	Het
Fbxo46	A	G	7: 18,870,799 (GRCm39)	M473V	possibly damaging	Het
Fgf14	G	A	14: 124,221,196 (GRCm39)	P203S	probably damaging	Het
Foxf2	C	T	13: 31,810,226 (GRCm39)	A55V	unknown	Het
Galnt5	T	G	2: 57,925,385 (GRCm39)		probably benign	Het
Glis2	T	C	16: 4,429,416 (GRCm39)	L181P	probably damaging	Het
Gm10000	T	G	12: 104,442,667 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,869,563 (GRCm39)	S2959P	probably benign	Het
Hyal6	A	G	6: 24,734,852 (GRCm39)	N262D	probably benign	Het
Lgr4	T	C	2: 109,841,665 (GRCm39)	L526P	probably damaging	Het
Mapk1	A	T	16: 16,833,910 (GRCm39)	I88F	probably benign	Het
Mpg	A	T	11: 32,181,853 (GRCm39)	H287L	probably benign	Het
Mpp4	A	T	1: 59,163,886 (GRCm39)	Y489*	probably null	Het
Mpzl1	T	C	1: 165,429,359 (GRCm39)	E224G	probably damaging	Het
Myh10	A	G	11: 68,702,425 (GRCm39)		probably null	Het
Odad2	A	C	18: 7,223,621 (GRCm39)	L474R	probably damaging	Het
Or13p8	T	A	4: 118,583,831 (GRCm39)	I129K	probably damaging	Het
Or5m9	T	C	2: 85,877,548 (GRCm39)	S241P	probably damaging	Het
Paip1	T	A	13: 119,584,326 (GRCm39)	F196I	probably damaging	Het
Pde3a	A	T	6: 141,444,383 (GRCm39)	K1064*	probably null	Het
Pira2	A	T	7: 3,847,196 (GRCm39)		probably benign	Het
Pros1	A	G	16: 62,723,881 (GRCm39)	S210G	probably benign	Het
Rbm15	A	T	3: 107,238,685 (GRCm39)	L571Q	probably damaging	Het
Scn1a	T	A	2: 66,132,751 (GRCm39)	T1194S	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Serpina1e	G	A	12: 103,915,486 (GRCm39)	T240I	probably benign	Het
Setx	T	G	2: 29,047,145 (GRCm39)	S1874R	probably benign	Het
Sgsm2	G	T	11: 74,758,477 (GRCm39)	T256K	possibly damaging	Het
Slc44a1	T	C	4: 53,542,366 (GRCm39)	V300A	probably damaging	Het
Spata46	A	G	1: 170,139,178 (GRCm39)	Y59C	probably damaging	Het
Supt3	T	C	17: 45,430,158 (GRCm39)	F404L	probably benign	Het
Tars1	T	A	15: 11,394,452 (GRCm39)	K62*	probably null	Het
Tas2r139	A	C	6: 42,118,425 (GRCm39)	T186P	probably damaging	Het
Tasor2	T	A	13: 3,616,964 (GRCm39)	T2367S	possibly damaging	Het
Tc2n	C	T	12: 101,615,454 (GRCm39)	S457N	probably damaging	Het
Tox4	A	T	14: 52,530,085 (GRCm39)	S582C	probably benign	Het
Trappc12	T	C	12: 28,747,133 (GRCm39)		probably benign	Het
Ubqlnl	G	T	7: 103,797,845 (GRCm39)	Q551K	probably damaging	Het
Ubr4	A	G	4: 139,119,435 (GRCm39)	T205A	probably benign	Het
Urb1	G	A	16: 90,574,310 (GRCm39)	Q924*	probably null	Het
Vmn1r49	A	G	6: 90,049,720 (GRCm39)	L94P	probably damaging	Het
Vmn2r120	T	C	17: 57,815,949 (GRCm39)	Y802C	probably damaging	Het
Xrcc1	C	T	7: 24,269,744 (GRCm39)		probably benign	Het

Other mutations in Adcyap1r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Adcyap1r1	APN	6	55,449,264 (GRCm39)	missense	probably damaging	1.00
IGL00837:Adcyap1r1	APN	6	55,438,605 (GRCm39)	splice site	probably benign
IGL02686:Adcyap1r1	APN	6	55,458,110 (GRCm39)	missense	probably benign	0.37
IGL03229:Adcyap1r1	APN	6	55,455,108 (GRCm39)	missense	probably damaging	1.00
PIT4458001:Adcyap1r1	UTSW	6	55,455,067 (GRCm39)	missense	probably benign	0.00
R0360:Adcyap1r1	UTSW	6	55,452,508 (GRCm39)	intron	probably benign
R1169:Adcyap1r1	UTSW	6	55,471,101 (GRCm39)	missense	probably damaging	1.00
R1897:Adcyap1r1	UTSW	6	55,456,179 (GRCm39)	missense	probably damaging	1.00
R2113:Adcyap1r1	UTSW	6	55,458,100 (GRCm39)	missense	probably damaging	0.99
R4462:Adcyap1r1	UTSW	6	55,457,084 (GRCm39)	missense	possibly damaging	0.90
R4871:Adcyap1r1	UTSW	6	55,457,078 (GRCm39)	missense	probably null	0.34
R5146:Adcyap1r1	UTSW	6	55,461,957 (GRCm39)	missense	probably benign	0.00
R5341:Adcyap1r1	UTSW	6	55,455,054 (GRCm39)	missense	probably benign	0.00
R6426:Adcyap1r1	UTSW	6	55,471,172 (GRCm39)	missense	probably damaging	1.00
R6599:Adcyap1r1	UTSW	6	55,456,979 (GRCm39)	missense	probably damaging	1.00
R6928:Adcyap1r1	UTSW	6	55,456,257 (GRCm39)	missense	possibly damaging	0.92
R7059:Adcyap1r1	UTSW	6	55,468,295 (GRCm39)	missense	probably damaging	0.98
R8383:Adcyap1r1	UTSW	6	55,456,985 (GRCm39)	missense	probably damaging	1.00
R8784:Adcyap1r1	UTSW	6	55,458,100 (GRCm39)	missense	probably damaging	0.99
R8882:Adcyap1r1	UTSW	6	55,468,219 (GRCm39)	missense	possibly damaging	0.81
R8919:Adcyap1r1	UTSW	6	55,474,080 (GRCm39)	missense	probably damaging	0.96
R9026:Adcyap1r1	UTSW	6	55,458,107 (GRCm39)	missense	probably benign	0.07
R9625:Adcyap1r1	UTSW	6	55,457,055 (GRCm39)	missense	probably damaging	0.98
R9699:Adcyap1r1	UTSW	6	55,474,140 (GRCm39)	missense	probably damaging	0.96
R9786:Adcyap1r1	UTSW	6	55,456,182 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCTGTGAATTGAGTCTTGCC -3'
(R):5'- AGTAGCAGCCAGGTCAAGATGTCC -3'

Sequencing Primer
(F):5'- GAATTGAGTCTTGCCAAGTCC -3'
(R):5'- GTCAAGATGTCCCTGCGAG -3'

Posted On

2013-06-12