Mutagenetix > Incidental Mutation

Incidental Mutation 'R4409:Adgrf5'

327834

Institutional Source

Beutler Lab

Gene Symbol

Adgrf5

Ensembl Gene

ENSMUSG00000056492

Gene Name

adhesion G protein-coupled receptor F5

Synonyms

8430401C09Rik, Gpr116

MMRRC Submission

041691-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4409 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43671342-43770448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43752738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 560 (V560A)

Ref Sequence

ENSEMBL: ENSMUSP00000153049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113599] [ENSMUST00000225004] [ENSMUST00000225962] [ENSMUST00000226087]

AlphaFold

G5E8Q8

Predicted Effect

probably damaging
Transcript: ENSMUST00000113599
AA Change: V560A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109229
Gene: ENSMUSG00000056492
AA Change: V560A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Blast:EGF	118	161	8e-14	BLAST
Pfam:SEA	165	263	9.2e-14	PFAM
IG	276	366	1.54e-4	SMART
Blast:IG_like	374	464	2e-31	BLAST
IG	475	561	1.04e-1	SMART
low complexity region	815	823	N/A	INTRINSIC
GPS	949	1004	6.49e-16	SMART
Pfam:7tm_2	1011	1264	1.2e-35	PFAM
low complexity region	1328	1347	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000225004

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225962
AA Change: V355A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226087
AA Change: V560A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death, decreased body weight and respiratory distress associated with pulmonary alveolar proteinosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	T	4: 144,447,872 (GRCm39)	S35T	possibly damaging	Het
Abcb5	A	C	12: 118,836,657 (GRCm39)	L1085V	probably damaging	Het
Ambp	C	A	4: 63,070,884 (GRCm39)	S65I	probably damaging	Het
Ash1l	A	G	3: 88,914,506 (GRCm39)	D1712G	probably damaging	Het
Capn7	T	C	14: 31,077,296 (GRCm39)	L338P	probably damaging	Het
Car2	T	A	3: 14,960,162 (GRCm39)	S105T	probably damaging	Het
Casr	A	G	16: 36,320,703 (GRCm39)	C482R	probably benign	Het
Ccdc18	C	T	5: 108,368,708 (GRCm39)	Q1277*	probably null	Het
Clca3a1	A	G	3: 144,711,788 (GRCm39)	F736L	probably damaging	Het
Col6a1	T	C	10: 76,557,334 (GRCm39)	H206R	probably benign	Het
Crybg1	C	T	10: 43,874,754 (GRCm39)	A785T	possibly damaging	Het
Cyp2c68	T	A	19: 39,727,896 (GRCm39)	E85D	probably damaging	Het
Dnah9	T	C	11: 65,976,303 (GRCm39)	S1249G	possibly damaging	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fbxw24	A	T	9: 109,437,256 (GRCm39)	D210E	probably damaging	Het
Fcgr1	T	C	3: 96,191,893 (GRCm39)	Y305C	probably benign	Het
Gm10226	G	T	17: 21,910,876 (GRCm39)	C37F	possibly damaging	Het
Greb1l	A	G	18: 10,503,182 (GRCm39)	Y411C	possibly damaging	Het
Grin1	T	C	2: 25,200,451 (GRCm39)	N224D	possibly damaging	Het
H2-T5	T	A	17: 36,476,742 (GRCm39)	H244L	possibly damaging	Het
Ighmbp2	C	T	19: 3,321,536 (GRCm39)	V408I	probably benign	Het
Il1rap	G	A	16: 26,531,015 (GRCm39)		probably null	Het
Iqcg	A	G	16: 32,865,888 (GRCm39)		probably null	Het
Klhdc3	C	T	17: 46,987,944 (GRCm39)	G249E	probably damaging	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Macrod2	T	G	2: 140,260,777 (GRCm39)	H68Q	possibly damaging	Het
Morn4	T	C	19: 42,066,986 (GRCm39)	T2A	possibly damaging	Het
Msc	G	C	1: 14,825,902 (GRCm39)	P24R	probably damaging	Het
Msh5	T	C	17: 35,258,226 (GRCm39)	D300G	probably damaging	Het
Myo10	A	G	15: 25,807,955 (GRCm39)	Y1859C	probably damaging	Het
Nacc1	A	G	8: 85,399,673 (GRCm39)	*515Q	probably null	Het
Or1ad6	T	A	11: 50,860,223 (GRCm39)	I126N	probably damaging	Het
Or4n5	T	A	14: 50,133,230 (GRCm39)	T10S	probably benign	Het
Or5g29	T	C	2: 85,421,274 (GRCm39)	L130S	probably damaging	Het
Oxgr1	C	T	14: 120,259,572 (GRCm39)	V212M	possibly damaging	Het
P3h2	G	C	16: 25,924,040 (GRCm39)	R132G	possibly damaging	Het
Pcdha9	T	A	18: 37,132,198 (GRCm39)	H422Q	probably benign	Het
Pcdhga12	A	G	18: 37,901,138 (GRCm39)	T657A	probably damaging	Het
Pcx	A	G	19: 4,660,031 (GRCm39)	K442R	possibly damaging	Het
Pkd2	T	C	5: 104,614,750 (GRCm39)		silent	Het
Plg	T	G	17: 12,609,150 (GRCm39)	C152G	probably damaging	Het
Plk4	A	G	3: 40,760,984 (GRCm39)	E438G	probably damaging	Het
Ryr3	A	G	2: 112,560,653 (GRCm39)	L3016P	probably damaging	Het
Sdccag8	T	G	1: 176,695,932 (GRCm39)		probably null	Het
Slc24a1	A	T	9: 64,855,506 (GRCm39)	M467K	probably benign	Het
Sorl1	T	G	9: 41,946,744 (GRCm39)	I856L	probably damaging	Het
Spag7	T	C	11: 70,555,688 (GRCm39)	D83G	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmprss11b	T	C	5: 86,812,137 (GRCm39)	N170S	probably benign	Het
Tnfrsf1b	G	A	4: 144,950,855 (GRCm39)	Q253*	probably null	Het
Trim12a	G	A	7: 103,956,201 (GRCm39)	A113V	probably benign	Het
Ttn	A	G	2: 76,727,987 (GRCm39)		probably benign	Het
Vmn1r213	A	C	13: 23,195,593 (GRCm39)		probably benign	Het
Vmn1r54	C	A	6: 90,246,864 (GRCm39)	Y259*	probably null	Het
Vmn1r55	A	G	7: 5,150,075 (GRCm39)	V116A	probably benign	Het
Vmn2r120	T	C	17: 57,816,477 (GRCm39)	N626S	probably damaging	Het
Vmn2r58	A	G	7: 41,522,051 (GRCm39)	F15S	possibly damaging	Het
Vmn2r73	A	T	7: 85,520,768 (GRCm39)	V400E	probably damaging	Het
Zbtb39	A	G	10: 127,578,696 (GRCm39)	I423M	possibly damaging	Het
Zfp352	A	G	4: 90,113,401 (GRCm39)	N514D	probably benign	Het
Zfp451	A	T	1: 33,816,494 (GRCm39)	H485Q	probably damaging	Het

Other mutations in Adgrf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Adgrf5	APN	17	43,760,806 (GRCm39)	missense	possibly damaging	0.79
IGL00590:Adgrf5	APN	17	43,764,038 (GRCm39)	missense	probably damaging	1.00
IGL01128:Adgrf5	APN	17	43,733,400 (GRCm39)	missense	possibly damaging	0.95
IGL01131:Adgrf5	APN	17	43,733,400 (GRCm39)	missense	possibly damaging	0.95
IGL01132:Adgrf5	APN	17	43,733,400 (GRCm39)	missense	possibly damaging	0.95
IGL01392:Adgrf5	APN	17	43,760,903 (GRCm39)	missense	probably benign	0.00
IGL01475:Adgrf5	APN	17	43,761,245 (GRCm39)	missense	probably benign	0.00
IGL01614:Adgrf5	APN	17	43,735,362 (GRCm39)	missense	possibly damaging	0.53
IGL01654:Adgrf5	APN	17	43,762,061 (GRCm39)	missense	possibly damaging	0.89
IGL02053:Adgrf5	APN	17	43,761,058 (GRCm39)	missense	possibly damaging	0.47
IGL02175:Adgrf5	APN	17	43,761,901 (GRCm39)	missense	probably damaging	1.00
IGL02416:Adgrf5	APN	17	43,755,871 (GRCm39)	splice site	probably null
IGL02525:Adgrf5	APN	17	43,760,854 (GRCm39)	missense	probably damaging	1.00
IGL03035:Adgrf5	APN	17	43,741,518 (GRCm39)	missense	possibly damaging	0.80
duct_tape	UTSW	17	43,756,006 (GRCm39)	missense	probably benign	0.04
Flypaper	UTSW	17	43,733,552 (GRCm39)	splice site	probably benign
goop	UTSW	17	43,752,860 (GRCm39)	missense	probably damaging	0.99
Heaped	UTSW	17	43,757,927 (GRCm39)	missense	possibly damaging	0.93
la_brea	UTSW	17	43,763,214 (GRCm39)	critical splice donor site	probably null
Motel	UTSW	17	43,761,271 (GRCm39)	missense	probably damaging	1.00
noel	UTSW	17	43,741,503 (GRCm39)	missense	probably damaging	1.00
Schmutzfinger	UTSW	17	43,735,709 (GRCm39)	nonsense	probably null
sticky	UTSW	17	43,748,462 (GRCm39)	missense	probably damaging	0.98
sweetie	UTSW	17	43,761,874 (GRCm39)	missense	probably damaging	0.96
PIT4812001:Adgrf5	UTSW	17	43,761,260 (GRCm39)	missense	probably damaging	1.00
R0699:Adgrf5	UTSW	17	43,733,552 (GRCm39)	splice site	probably null
R0972:Adgrf5	UTSW	17	43,761,874 (GRCm39)	missense	probably damaging	0.96
R1521:Adgrf5	UTSW	17	43,741,443 (GRCm39)	missense	probably benign	0.03
R1523:Adgrf5	UTSW	17	43,761,044 (GRCm39)	missense	probably benign	0.00
R1758:Adgrf5	UTSW	17	43,735,484 (GRCm39)	critical splice donor site	probably null
R1767:Adgrf5	UTSW	17	43,761,455 (GRCm39)	missense	possibly damaging	0.87
R1799:Adgrf5	UTSW	17	43,750,958 (GRCm39)	missense	probably damaging	0.98
R1800:Adgrf5	UTSW	17	43,761,973 (GRCm39)	missense	probably damaging	1.00
R1888:Adgrf5	UTSW	17	43,737,896 (GRCm39)	splice site	probably null
R1888:Adgrf5	UTSW	17	43,737,896 (GRCm39)	splice site	probably null
R2057:Adgrf5	UTSW	17	43,739,477 (GRCm39)	missense	possibly damaging	0.88
R2058:Adgrf5	UTSW	17	43,739,477 (GRCm39)	missense	possibly damaging	0.88
R2059:Adgrf5	UTSW	17	43,739,477 (GRCm39)	missense	possibly damaging	0.88
R2410:Adgrf5	UTSW	17	43,766,157 (GRCm39)	missense	probably benign	0.11
R2568:Adgrf5	UTSW	17	43,748,562 (GRCm39)	missense	probably damaging	1.00
R2847:Adgrf5	UTSW	17	43,733,531 (GRCm39)	missense	possibly damaging	0.69
R2848:Adgrf5	UTSW	17	43,733,531 (GRCm39)	missense	possibly damaging	0.69
R3800:Adgrf5	UTSW	17	43,757,951 (GRCm39)	splice site	probably benign
R3856:Adgrf5	UTSW	17	43,757,927 (GRCm39)	missense	possibly damaging	0.93
R4021:Adgrf5	UTSW	17	43,741,605 (GRCm39)	splice site	probably benign
R4075:Adgrf5	UTSW	17	43,761,086 (GRCm39)	missense	probably damaging	1.00
R4366:Adgrf5	UTSW	17	43,752,860 (GRCm39)	missense	probably damaging	0.99
R4570:Adgrf5	UTSW	17	43,756,006 (GRCm39)	missense	probably benign	0.04
R4616:Adgrf5	UTSW	17	43,763,331 (GRCm39)	missense	probably benign	0.38
R4623:Adgrf5	UTSW	17	43,761,874 (GRCm39)	missense	probably benign	0.16
R4645:Adgrf5	UTSW	17	43,748,416 (GRCm39)	missense	probably damaging	1.00
R5211:Adgrf5	UTSW	17	43,733,511 (GRCm39)	missense	probably benign	0.32
R5268:Adgrf5	UTSW	17	43,761,890 (GRCm39)	missense	probably damaging	1.00
R5280:Adgrf5	UTSW	17	43,737,225 (GRCm39)	missense	probably damaging	1.00
R5326:Adgrf5	UTSW	17	43,750,965 (GRCm39)	missense	probably damaging	0.98
R5762:Adgrf5	UTSW	17	43,741,586 (GRCm39)	missense	probably null	0.16
R5856:Adgrf5	UTSW	17	43,757,011 (GRCm39)	missense	probably benign	0.09
R6007:Adgrf5	UTSW	17	43,748,462 (GRCm39)	missense	probably damaging	0.98
R6153:Adgrf5	UTSW	17	43,761,974 (GRCm39)	missense	possibly damaging	0.96
R6451:Adgrf5	UTSW	17	43,735,709 (GRCm39)	nonsense	probably null
R6535:Adgrf5	UTSW	17	43,750,920 (GRCm39)	missense	probably benign	0.05
R6536:Adgrf5	UTSW	17	43,733,552 (GRCm39)	splice site	probably benign
R6602:Adgrf5	UTSW	17	43,761,195 (GRCm39)	missense	probably benign	0.32
R6882:Adgrf5	UTSW	17	43,761,271 (GRCm39)	missense	probably damaging	1.00
R6992:Adgrf5	UTSW	17	43,763,214 (GRCm39)	critical splice donor site	probably null
R7137:Adgrf5	UTSW	17	43,761,788 (GRCm39)	missense	probably damaging	1.00
R7170:Adgrf5	UTSW	17	43,757,029 (GRCm39)	missense	possibly damaging	0.92
R7313:Adgrf5	UTSW	17	43,763,368 (GRCm39)	critical splice donor site	probably null
R7313:Adgrf5	UTSW	17	43,755,974 (GRCm39)	missense	probably benign	0.01
R7331:Adgrf5	UTSW	17	43,748,484 (GRCm39)	missense	probably damaging	0.99
R7346:Adgrf5	UTSW	17	43,762,070 (GRCm39)	missense	probably damaging	1.00
R7350:Adgrf5	UTSW	17	43,739,335 (GRCm39)	critical splice acceptor site	probably null
R7667:Adgrf5	UTSW	17	43,756,930 (GRCm39)	missense	probably benign	0.01
R7717:Adgrf5	UTSW	17	43,761,644 (GRCm39)	missense	probably damaging	1.00
R7731:Adgrf5	UTSW	17	43,761,451 (GRCm39)	missense	probably damaging	1.00
R7877:Adgrf5	UTSW	17	43,752,729 (GRCm39)	missense	possibly damaging	0.63
R7950:Adgrf5	UTSW	17	43,762,048 (GRCm39)	missense	probably damaging	0.99
R7988:Adgrf5	UTSW	17	43,750,704 (GRCm39)	intron	probably benign
R8188:Adgrf5	UTSW	17	43,741,503 (GRCm39)	missense	probably damaging	1.00
R8219:Adgrf5	UTSW	17	43,760,750 (GRCm39)	missense	probably benign	0.13
R8284:Adgrf5	UTSW	17	43,766,161 (GRCm39)	missense	unknown
R8460:Adgrf5	UTSW	17	43,750,699 (GRCm39)	intron	probably benign
R8504:Adgrf5	UTSW	17	43,757,840 (GRCm39)	missense	probably benign	0.01
R8751:Adgrf5	UTSW	17	43,748,574 (GRCm39)	missense	possibly damaging	0.80
R8852:Adgrf5	UTSW	17	43,763,989 (GRCm39)	missense	possibly damaging	0.82
R9196:Adgrf5	UTSW	17	43,755,995 (GRCm39)	missense	possibly damaging	0.94
R9418:Adgrf5	UTSW	17	43,737,864 (GRCm39)	missense	probably benign	0.00
R9671:Adgrf5	UTSW	17	43,760,795 (GRCm39)	missense	probably damaging	1.00
R9734:Adgrf5	UTSW	17	43,763,199 (GRCm39)	missense	probably damaging	1.00
R9756:Adgrf5	UTSW	17	43,761,137 (GRCm39)	missense	probably benign	0.01
R9765:Adgrf5	UTSW	17	43,748,491 (GRCm39)	missense	probably damaging	1.00
X0017:Adgrf5	UTSW	17	43,737,936 (GRCm39)	missense	probably damaging	1.00
Z1177:Adgrf5	UTSW	17	43,755,944 (GRCm39)	missense	probably benign	0.00
Z1191:Adgrf5	UTSW	17	43,755,926 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AGGTCTGTACACAAATTGAGGAAAC -3'
(R):5'- ACACCTATGGGCTAATGCAGG -3'

Sequencing Primer
(F):5'- CAAAGCTAAGACTCCTCTTATTGC -3'
(R):5'- TAATGCAGGCCTAGCAGC -3'

Posted On

2015-07-07