Mutagenetix > Incidental Mutation

Incidental Mutation 'R4075:Adgrf5'

316539

Institutional Source

Beutler Lab

Gene Symbol

Adgrf5

Ensembl Gene

ENSMUSG00000056492

Gene Name

adhesion G protein-coupled receptor F5

Synonyms

8430401C09Rik, Gpr116

MMRRC Submission

040974-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4075 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43671342-43770448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 43761086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 927 (V927G)

Ref Sequence

ENSEMBL: ENSMUSP00000153049 (fasta)

Gene Model

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

AlphaFold

G5E8Q8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082648

Predicted Effect

probably damaging
Transcript: ENSMUST00000113599
AA Change: V927G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109229
Gene: ENSMUSG00000056492
AA Change: V927G

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 damaging
Transcript: ENSMUST00000225962
AA Change: V722G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226087
AA Change: V927G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	A	7: 119,297,981 (GRCm39)	L206H	probably benign	Het
Adam34l	A	T	8: 44,079,387 (GRCm39)	F279Y	probably damaging	Het
Agtr1a	A	G	13: 30,565,817 (GRCm39)	N294S	probably damaging	Het
Aspm	T	C	1: 139,402,023 (GRCm39)	L1229S	probably damaging	Het
Chmp7	A	T	14: 69,969,730 (GRCm39)	V70E	probably damaging	Het
Cnot10	A	G	9: 114,452,015 (GRCm39)	F254L	possibly damaging	Het
Cubn	A	G	2: 13,318,810 (GRCm39)	V2963A	possibly damaging	Het
Depp1	A	G	6: 116,629,029 (GRCm39)	N124S	possibly damaging	Het
Dnah5	T	A	15: 28,293,937 (GRCm39)	D1347E	probably benign	Het
Dsg1a	T	G	18: 20,473,127 (GRCm39)	N733K	possibly damaging	Het
Dst	A	G	1: 34,231,350 (GRCm39)	E2656G	probably benign	Het
Egf	C	T	3: 129,529,618 (GRCm39)	R264Q	probably benign	Het
Eqtn	A	G	4: 94,808,199 (GRCm39)	I201T	possibly damaging	Het
Ercc4	G	A	16: 12,948,549 (GRCm39)	V499I	probably damaging	Het
Fsip2	C	T	2: 82,813,245 (GRCm39)	S3188L	probably benign	Het
Herc1	A	G	9: 66,325,774 (GRCm39)	D1416G	probably benign	Het
Hormad1	T	C	3: 95,485,514 (GRCm39)	M234T	possibly damaging	Het
Ifi44	A	T	3: 151,451,613 (GRCm39)	N164K	probably benign	Het
Ikzf3	G	T	11: 98,358,469 (GRCm39)	Y289*	probably null	Het
Il17rc	A	G	6: 113,458,158 (GRCm39)	D327G	possibly damaging	Het
Lamp3	A	G	16: 19,519,466 (GRCm39)	L239P	possibly damaging	Het
Lce1l	C	T	3: 92,757,540 (GRCm39)	S106N	unknown	Het
Lrig3	C	T	10: 125,849,277 (GRCm39)	T999I	probably benign	Het
Map4k4	T	C	1: 40,062,622 (GRCm39)	Y1196H	probably damaging	Het
Mtr	C	A	13: 12,230,298 (GRCm39)		probably null	Het
Nlrp4c	A	G	7: 6,075,709 (GRCm39)	K667E	probably benign	Het
Nxt1	A	G	2: 148,517,652 (GRCm39)	D131G	probably damaging	Het
Obox3	G	T	7: 15,359,724 (GRCm39)	T315N	possibly damaging	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Or5bw2	T	C	7: 6,573,142 (GRCm39)	S51P	probably benign	Het
Pcdh7	A	G	5: 57,879,150 (GRCm39)	R902G	probably damaging	Het
Pidd1	A	G	7: 141,020,739 (GRCm39)	F453L	probably damaging	Het
Ptpn1	T	A	2: 167,818,433 (GRCm39)		probably null	Het
Rev1	T	G	1: 38,093,319 (GRCm39)	K1075T	possibly damaging	Het
Slc28a2b	T	G	2: 122,344,892 (GRCm39)	V166G	probably benign	Het
Slco1a5	A	T	6: 142,213,950 (GRCm39)	I57K	possibly damaging	Het
Ssrp1	A	C	2: 84,875,912 (GRCm39)	K590N	possibly damaging	Het
Svs5	T	C	2: 164,079,238 (GRCm39)	E223G	probably benign	Het
Tab3	G	T	X: 84,658,063 (GRCm39)	V197F	probably damaging	Het
Tm2d3	T	A	7: 65,347,498 (GRCm39)	L49*	probably null	Het
Usp31	A	G	7: 121,267,005 (GRCm39)		probably null	Het
Vmn2r24	A	T	6: 123,764,374 (GRCm39)	H417L	possibly damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zbtb11	C	T	16: 55,818,427 (GRCm39)	T617I	possibly damaging	Het
Zfp677	T	C	17: 21,618,421 (GRCm39)	Y493H	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
R4366:Adgrf5	UTSW	17	43,752,860 (GRCm39)	missense	probably damaging	0.99
R4409:Adgrf5	UTSW	17	43,752,738 (GRCm39)	missense	probably damaging	1.00
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'- TGATAAAACGTGGCCACCCC -3'
(R):5'- TGGTTACACTTGCAGAAGACTC -3'

Sequencing Primer
(F):5'- CAGCAGTTTATCTTCAAAGACTCTG -3'
(R):5'- AGAAGACTCTGTCCCTATTGTCC -3'

Posted On

2015-05-15