Mutagenetix > Incidental Mutation

Incidental Mutation 'R1169:Adcyap1r1'

101467

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

039242-MU

Accession Numbers

Essential gene?

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

Stock #

R1169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55428963-55478436 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55471101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 418 (F418L)

Ref Sequence

ENSEMBL: ENSMUSP00000126994 (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: F390L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063784
Gene: ENSMUSG00000029778
AA Change: F390L

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 damaging
Transcript: ENSMUST00000070756
AA Change: F362L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066902
Gene: ENSMUSG00000029778
AA Change: F362L

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 damaging
Transcript: ENSMUST00000165786
AA Change: F389L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130923
Gene: ENSMUSG00000029778
AA Change: F389L

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: F390L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129614
Gene: ENSMUSG00000029778
AA Change: F390L

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 damaging
Transcript: ENSMUST00000167234
AA Change: F418L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126994
Gene: ENSMUSG00000029778
AA Change: F418L

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 damaging
Transcript: ENSMUST00000172084
AA Change: F341L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127319
Gene: ENSMUSG00000029778
AA Change: F341L

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	T	C	10: 80,419,781 (GRCm39)	E275G	probably damaging	Het
Adam10	T	A	9: 70,653,574 (GRCm39)	I123N	probably damaging	Het
Adam8	A	T	7: 139,563,842 (GRCm39)	L715Q	probably benign	Het
Ankrd50	A	T	3: 38,508,401 (GRCm39)	I1322K	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Atxn7	T	C	14: 14,095,468 (GRCm38)	S389P	possibly damaging	Het
C4b	A	T	17: 34,961,946 (GRCm39)	L100Q	probably benign	Het
Cacul1	G	A	19: 60,568,846 (GRCm39)	A104V	probably damaging	Het
Camsap3	T	C	8: 3,653,866 (GRCm39)	F512S	probably damaging	Het
Casp1	T	C	9: 5,299,454 (GRCm39)	V61A	possibly damaging	Het
Cfap251	GGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGA	5: 123,392,673 (GRCm39)		probably benign	Het
Chd1	T	A	17: 15,955,994 (GRCm39)	F531Y	probably damaging	Het
Clec2h	C	T	6: 128,651,758 (GRCm39)	Q156*	probably null	Het
Clip2	T	A	5: 134,521,104 (GRCm39)	E978V	probably benign	Het
Cnpy2	T	G	10: 128,159,465 (GRCm39)	L34R	probably damaging	Het
Cog6	A	T	3: 52,921,265 (GRCm39)	C114S	probably benign	Het
Col6a3	A	T	1: 90,749,736 (GRCm39)	V366E	possibly damaging	Het
Col6a5	A	G	9: 105,774,173 (GRCm39)		probably null	Het
Cplx3	T	C	9: 57,517,278 (GRCm39)	T369A	probably damaging	Het
Dmbt1	G	A	7: 130,676,254 (GRCm39)		probably null	Het
Dok1	A	G	6: 83,009,029 (GRCm39)	F218L	possibly damaging	Het
Dph7	T	A	2: 24,856,583 (GRCm39)	N178K	probably benign	Het
Enam	A	T	5: 88,651,117 (GRCm39)	E800D	probably damaging	Het
Fads3	A	T	19: 10,031,463 (GRCm39)	Q205L	possibly damaging	Het
Fbxo44	T	C	4: 148,240,433 (GRCm39)	H265R	probably benign	Het
Gli1	T	A	10: 127,174,320 (GRCm39)	S24C	probably damaging	Het
Gm4894	T	A	9: 49,185,526 (GRCm39)	C43*	probably null	Het
Gpbp1l1	C	T	4: 116,431,563 (GRCm39)	H74Y	possibly damaging	Het
H2-Eb2	T	A	17: 34,552,331 (GRCm39)	F59I	possibly damaging	Het
Hspa14	T	C	2: 3,499,161 (GRCm39)	N211S	possibly damaging	Het
Ifnlr1	T	G	4: 135,432,419 (GRCm39)	F285C	probably benign	Het
Igf1r	G	T	7: 67,814,875 (GRCm39)	V259L	probably benign	Het
Igf2bp2	A	T	16: 21,897,480 (GRCm39)	Y244*	probably null	Het
Ighg2c	A	T	12: 113,249,572 (GRCm39)		probably benign	Het
Ighv8-14	A	T	12: 115,772,075 (GRCm39)		probably null	Het
Iqsec2	A	G	X: 150,927,727 (GRCm39)	S87G	probably benign	Het
Itsn2	A	G	12: 4,689,694 (GRCm39)	K589R	probably damaging	Het
Khdc1a	A	C	1: 21,420,495 (GRCm39)	E38D	possibly damaging	Het
Krt42	T	G	11: 100,154,171 (GRCm39)		probably null	Het
Lpo	T	C	11: 87,708,143 (GRCm39)	N183S	possibly damaging	Het
Lrrc3	T	A	10: 77,736,764 (GRCm39)	Y224F	probably damaging	Het
Ly6g6f	T	A	17: 35,302,240 (GRCm39)	D99V	probably damaging	Het
Lyplal1	T	C	1: 185,846,531 (GRCm39)	I42V	probably benign	Het
Mis18bp1	G	A	12: 65,190,057 (GRCm39)	Q793*	probably null	Het
Myh10	T	G	11: 68,653,667 (GRCm39)	M346R	probably damaging	Het
Nav1	G	T	1: 135,382,943 (GRCm39)	H1256Q	probably damaging	Het
Nbea	A	G	3: 55,875,744 (GRCm39)	V1642A	probably benign	Het
Or4d6	C	T	19: 12,086,853 (GRCm39)	R19H	probably benign	Het
Or8b12i	T	C	9: 20,082,354 (GRCm39)	N171S	probably benign	Het
Or8i2	A	G	2: 86,852,061 (GRCm39)	F276L	probably damaging	Het
Or8k28	A	G	2: 86,285,931 (GRCm39)	I228T	possibly damaging	Het
Orm3	G	A	4: 63,276,085 (GRCm39)	V166M	probably damaging	Het
Oxct1	T	A	15: 4,120,708 (GRCm39)	I264N	probably damaging	Het
Paox	G	A	7: 139,706,244 (GRCm39)	V55I	probably benign	Het
Pde4d	C	A	13: 110,087,462 (GRCm39)		probably null	Het
Pnliprp1	A	G	19: 58,723,383 (GRCm39)	N258S	probably damaging	Het
Potegl	A	G	2: 23,146,994 (GRCm39)	K275E	possibly damaging	Het
Prl7b1	C	A	13: 27,790,887 (GRCm39)	R66L	possibly damaging	Het
Ptpre	G	T	7: 135,269,341 (GRCm39)	C261F	probably benign	Het
Rho	C	G	6: 115,909,199 (GRCm39)	N78K	probably damaging	Het
Rnf17	A	G	14: 56,751,622 (GRCm39)	N1487D	possibly damaging	Het
Ryr3	G	A	2: 112,563,359 (GRCm39)	T2922I	probably benign	Het
Saxo2	A	C	7: 82,284,379 (GRCm39)	F160V	possibly damaging	Het
Sbf2	A	T	7: 109,909,391 (GRCm39)	Y1786N	probably benign	Het
Sdad1	A	T	5: 92,446,092 (GRCm39)	V280E	probably benign	Het
Sgsm1	T	C	5: 113,427,351 (GRCm39)	D90G	probably damaging	Het
Siglec1	A	T	2: 130,916,747 (GRCm39)	D1169E	probably damaging	Het
Sim1	T	A	10: 50,857,618 (GRCm39)	V456E	probably benign	Het
Skint8	T	A	4: 111,785,710 (GRCm39)	I52N	possibly damaging	Het
Slc27a1	C	A	8: 72,033,297 (GRCm39)	R280S	probably benign	Het
Slc9a3	G	A	13: 74,298,862 (GRCm39)	V94I	probably damaging	Het
Sorcs2	C	A	5: 36,185,269 (GRCm39)	V936L	possibly damaging	Het
Syce1	A	G	7: 140,358,120 (GRCm39)	F255S	probably benign	Het
Tmc7	G	A	7: 118,150,483 (GRCm39)	S350L	probably benign	Het
Tmem200a	T	A	10: 25,870,246 (GRCm39)	I8F	probably damaging	Het
Trip6	T	C	5: 137,310,182 (GRCm39)	H322R	probably benign	Het
Vmn2r72	A	T	7: 85,400,517 (GRCm39)	N177K	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
R0517:Adcyap1r1	UTSW	6	55,468,282 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2014-01-15