Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00590:Adgrf5'

332726

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adgrf5

Ensembl Gene

ENSMUSG00000056492

Gene Name

adhesion G protein-coupled receptor F5

Synonyms

8430401C09Rik, Gpr116

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00590

Quality Score

Status

Chromosome

Chromosomal Location

43671342-43770448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 43764038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 1320 (G1320V)

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: G1320V

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

SMART Domains

Protein: ENSMUSP00000109229
Gene: ENSMUSG00000056492
AA Change: G1320V

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: G1115V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000226087
AA Change: G1320V

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

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,023,038 (GRCm39)	F58C	probably damaging	Het
Akap13	A	G	7: 75,260,417 (GRCm39)	K211E	probably benign	Het
Akap8l	T	C	17: 32,552,071 (GRCm39)	D402G	possibly damaging	Het
Akna	T	C	4: 63,290,115 (GRCm39)	I1198V	probably benign	Het
Apaf1	T	A	10: 90,859,650 (GRCm39)	I832F	probably damaging	Het
Cbl	A	C	9: 44,112,495 (GRCm39)	L67V	probably damaging	Het
Chl1	T	C	6: 103,670,022 (GRCm39)	Y471H	probably benign	Het
Cystm1	T	A	18: 36,499,728 (GRCm39)	Y48N	unknown	Het
Dennd5b	T	C	6: 148,969,806 (GRCm39)	T216A	probably benign	Het
Dpep2	A	T	8: 106,715,453 (GRCm39)	M356K	probably damaging	Het
Dtymk	A	G	1: 93,722,446 (GRCm39)		probably null	Het
Fam91a1	A	G	15: 58,287,565 (GRCm39)	D4G	possibly damaging	Het
Fbxl20	A	G	11: 97,983,955 (GRCm39)	L306P	probably damaging	Het
Fchsd1	C	T	18: 38,098,946 (GRCm39)		probably benign	Het
Fndc1	G	A	17: 7,983,933 (GRCm39)	T1331I	unknown	Het
Gpatch8	T	C	11: 102,371,375 (GRCm39)	D721G	unknown	Het
Gsg1	A	T	6: 135,221,348 (GRCm39)	I17N	possibly damaging	Het
Heyl	A	G	4: 123,140,423 (GRCm39)	*327W	probably null	Het
Kif13b	G	T	14: 65,016,911 (GRCm39)	R1359L	probably damaging	Het
Map3k14	C	T	11: 103,128,380 (GRCm39)	G414S	probably damaging	Het
Meis2	C	T	2: 115,699,274 (GRCm39)	A330T	probably damaging	Het
Mrpl9	T	C	3: 94,351,003 (GRCm39)	L61P	probably damaging	Het
Mrps6	A	G	16: 91,896,548 (GRCm39)	N38D	probably benign	Het
Muc4	C	T	16: 32,575,465 (GRCm39)	T1407I	probably benign	Het
Nup107	A	G	10: 117,599,708 (GRCm39)	Y604H	probably damaging	Het
Pgm2l1	T	C	7: 99,904,826 (GRCm39)		probably null	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Rb1cc1	T	C	1: 6,308,520 (GRCm39)	F52S	probably damaging	Het
Rnft1	T	A	11: 86,386,740 (GRCm39)	W383R	probably damaging	Het
Tas2r104	A	T	6: 131,662,530 (GRCm39)	W60R	probably damaging	Het
Tlr11	A	G	14: 50,598,373 (GRCm39)	T120A	probably benign	Het
Tmem150b	T	G	7: 4,726,896 (GRCm39)	I71L	probably benign	Het
Zfp296	A	G	7: 19,311,760 (GRCm39)	D89G	possibly 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
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
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

Posted On

2015-08-05