Mutagenetix > Incidental Mutation

Incidental Mutation 'R8784:Adcyap1r1'

670476

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

068606-MU

Accession Numbers

Essential gene?

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

Stock #

R8784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55428963-55478436 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55458100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 300 (N300K)

Ref Sequence

ENSEMBL: ENSMUSP00000129614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070736] [ENSMUST00000070756] [ENSMUST00000165786] [ENSMUST00000165857] [ENSMUST00000166962] [ENSMUST00000167234] [ENSMUST00000172084]

AlphaFold

P70205

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070736
AA Change: N300K

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063784
Gene: ENSMUSG00000029778
AA Change: N300K

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

possibly damaging
Transcript: ENSMUST00000070756
AA Change: N300K

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066902
Gene: ENSMUSG00000029778
AA Change: N300K

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

possibly damaging
Transcript: ENSMUST00000165786
AA Change: N300K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130923
Gene: ENSMUSG00000029778
AA Change: N300K

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 damaging
Transcript: ENSMUST00000165857
AA Change: N300K

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

SMART Domains

Protein: ENSMUSP00000129614
Gene: ENSMUSG00000029778
AA Change: N300K

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: ENSMUST00000166962

SMART Domains

Protein: ENSMUSP00000130742
Gene: ENSMUSG00000029778

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
Pfam:HRM	51	131	2.3e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167234
AA Change: N300K

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126994
Gene: ENSMUSG00000029778
AA Change: N300K

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
AA Change: N279K

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127319
Gene: ENSMUSG00000029778
AA Change: N279K

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

0.6159

Coding Region Coverage

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

Validation Efficiency

100% (87/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 45,652,025 (GRCm39)	M614K	probably benign	Het
Adamts7	G	T	9: 90,075,918 (GRCm39)	V1217L	probably null	Het
Atf7ip	A	G	6: 136,576,648 (GRCm39)	D1017G	probably damaging	Het
Atg2b	A	C	12: 105,605,500 (GRCm39)	D1488E	probably damaging	Het
Atxn2	A	G	5: 121,933,091 (GRCm39)	T805A	probably benign	Het
Azi2	A	T	9: 117,884,960 (GRCm39)	H223L	probably benign	Het
Banp	T	A	8: 122,727,852 (GRCm39)	S349T	probably damaging	Het
Bicra	A	T	7: 15,705,875 (GRCm39)	I1522N	probably damaging	Het
Brca2	A	T	5: 150,472,126 (GRCm39)	R2342*	probably null	Het
C6	T	C	15: 4,822,622 (GRCm39)	C623R	probably damaging	Het
Cc2d2a	T	C	5: 43,860,645 (GRCm39)	Y574H	possibly damaging	Het
Cdk5rap3	C	T	11: 96,803,212 (GRCm39)	C115Y	probably benign	Het
Chrm4	T	A	2: 91,758,033 (GRCm39)	M147K	probably benign	Het
Cit	A	T	5: 115,984,442 (GRCm39)	K5*	probably null	Het
Ciz1	T	A	2: 32,260,262 (GRCm39)	S231T	probably benign	Het
Crebrf	A	G	17: 26,961,520 (GRCm39)	I206V	probably benign	Het
Cyc1	T	C	15: 76,227,863 (GRCm39)	S34P	probably benign	Het
Dnah5	A	G	15: 28,388,097 (GRCm39)	I3185M	probably benign	Het
Dtnbp1	T	C	13: 45,075,702 (GRCm39)	D347G	unknown	Het
Dzip3	A	T	16: 48,751,628 (GRCm39)	V767E	probably damaging	Het
Gdf3	A	T	6: 122,583,279 (GRCm39)	C363S	probably damaging	Het
Glb1l	T	C	1: 75,176,975 (GRCm39)	K487R	probably damaging	Het
Gm9747	T	C	1: 82,212,002 (GRCm39)	V67A	unknown	Het
Hoxb2	A	G	11: 96,242,736 (GRCm39)	T34A	possibly damaging	Het
Ifnk	C	T	4: 35,152,383 (GRCm39)	R104C	probably damaging	Het
Igfbp1	A	T	11: 7,151,952 (GRCm39)	I252F	probably damaging	Het
Ighv1-74	T	C	12: 115,766,480 (GRCm39)	T47A	probably benign	Het
Igkv4-62	A	T	6: 69,376,946 (GRCm39)	W68R	probably damaging	Het
Il23r	A	G	6: 67,443,401 (GRCm39)	I234T	probably damaging	Het
Ints2	T	A	11: 86,112,963 (GRCm39)	I852F	probably damaging	Het
Ints2	G	A	11: 86,115,941 (GRCm39)	Q763*	probably null	Het
Jhy	T	G	9: 40,872,182 (GRCm39)	H109P	probably benign	Het
Katna1	T	A	10: 7,614,579 (GRCm39)	V29D	possibly damaging	Het
Kcng4	T	A	8: 120,352,970 (GRCm39)	E313D	probably benign	Het
Klf14	T	A	6: 30,935,049 (GRCm39)	H195L	probably damaging	Het
Lama3	A	G	18: 12,554,212 (GRCm39)	N472S	probably benign	Het
Layn	A	T	9: 50,970,781 (GRCm39)	V254E	possibly damaging	Het
Lrba	A	T	3: 86,283,235 (GRCm39)	S1850C	probably damaging	Het
Map1s	A	G	8: 71,358,909 (GRCm39)	I2V	unknown	Het
Map3k12	T	A	15: 102,413,797 (GRCm39)	Q58L	possibly damaging	Het
Minpp1	T	C	19: 32,491,396 (GRCm39)	V358A	probably benign	Het
Mymk	C	G	2: 26,961,947 (GRCm39)	K27N	possibly damaging	Het
Nek8	T	C	11: 78,063,375 (GRCm39)	K130E	probably damaging	Het
Ngef	T	A	1: 87,405,293 (GRCm39)	S706C	probably damaging	Het
Nsun6	G	A	2: 15,001,306 (GRCm39)	Q417*	probably null	Het
Ntsr2	G	T	12: 16,706,852 (GRCm39)	Q293H	probably damaging	Het
Ocln	T	A	13: 100,676,050 (GRCm39)	I148F	probably damaging	Het
Or12d12	A	G	17: 37,610,701 (GRCm39)	I204T	probably benign	Het
Or4p19	A	T	2: 88,242,091 (GRCm39)	Y304N	probably benign	Het
Or8g30	T	A	9: 39,229,989 (GRCm39)	Q307L	probably benign	Het
Pank3	T	G	11: 35,672,412 (GRCm39)	F272V	probably damaging	Het
Piezo1	A	T	8: 123,223,328 (GRCm39)		probably benign	Het
Plppr4	G	A	3: 117,116,190 (GRCm39)	R556*	probably null	Het
Polr1a	G	T	6: 71,927,612 (GRCm39)	R821L	probably benign	Het
Ppp1r36	C	T	12: 76,485,967 (GRCm39)	T375I	probably benign	Het
Ptprj	T	A	2: 90,290,856 (GRCm39)	I628F	possibly damaging	Het
Puf60	C	A	15: 75,949,525 (GRCm39)	V29F	unknown	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rassf1	A	G	9: 107,435,041 (GRCm39)	S179G	probably benign	Het
Rbm6	A	G	9: 107,665,337 (GRCm39)	S772P	possibly damaging	Het
Rnf103	T	G	6: 71,486,982 (GRCm39)	S538A	probably benign	Het
Scoc	C	A	8: 84,164,245 (GRCm39)	V58L	probably benign	Het
Secisbp2l	G	A	2: 125,602,263 (GRCm39)	Q366*	probably null	Het
Slc16a14	T	C	1: 84,890,784 (GRCm39)	T174A	probably benign	Het
Slc25a22	A	C	7: 141,011,020 (GRCm39)	*324G	probably null	Het
Smarca2	C	T	19: 26,753,558 (GRCm39)	T197I	probably benign	Het
Speg	T	C	1: 75,381,793 (GRCm39)		probably benign	Het
Srgap2	T	A	1: 131,223,212 (GRCm39)	N858I	unknown	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Tbc1d22b	T	C	17: 29,818,918 (GRCm39)	I424T	probably damaging	Het
Tcaf1	T	G	6: 42,656,221 (GRCm39)	T252P	probably benign	Het
Thbs1	A	G	2: 117,943,613 (GRCm39)	D77G	probably damaging	Het
Tlcd3a	T	C	11: 76,098,941 (GRCm39)	F237S	probably damaging	Het
Trim21	T	C	7: 102,208,675 (GRCm39)	E348G	probably benign	Het
Trpm3	A	G	19: 22,896,040 (GRCm39)	D959G	probably benign	Het
Ttc24	A	T	3: 87,980,033 (GRCm39)	C182*	probably null	Het
Tti1	T	C	2: 157,850,514 (GRCm39)	T242A	probably benign	Het
Ube2q2l	G	A	6: 136,378,729 (GRCm39)	Q34*	probably null	Het
Ube3b	G	T	5: 114,526,800 (GRCm39)	C100F	probably damaging	Het
Vmn1r26	T	A	6: 57,985,440 (GRCm39)	T250S	possibly damaging	Het
Vnn1	A	G	10: 23,780,526 (GRCm39)	T505A	probably benign	Het
Vps13a	C	A	19: 16,642,153 (GRCm39)	W2158L	probably damaging	Het
Vwa1	A	T	4: 155,857,345 (GRCm39)	V151E	probably damaging	Het
Zfp14	A	G	7: 29,742,961 (GRCm39)	S46P	probably damaging	Het
Zfp773	C	A	7: 7,135,570 (GRCm39)	C342F	probably benign	Het
Zscan12	T	A	13: 21,547,991 (GRCm39)	S58T	possibly damaging	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
R0517:Adcyap1r1	UTSW	6	55,468,282 (GRCm39)	missense	probably damaging	0.99
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
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'- CTGCCATGACAGGAACAGAG -3'
(R):5'- AAGGATTGCACCTTCCATGAGG -3'

Sequencing Primer
(F):5'- GAAAAAGCAGGCCTTGGGTG -3'
(R):5'- GGCTTATCCAACACTAGAGTAACTG -3'

Posted On

2021-04-30