Mutagenetix > Incidental Mutation

Incidental Mutation 'R4366:Adgrf5'

325778

Institutional Source

Beutler Lab

Gene Symbol

Adgrf5

Ensembl Gene

ENSMUSG00000056492

Gene Name

adhesion G protein-coupled receptor F5

Synonyms

8430401C09Rik, Gpr116

MMRRC Submission

041114-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43671342-43770448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 43752860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 396 (T396P)

Ref Sequence

ENSEMBL: ENSMUSP00000153373 (fasta)

Gene Model

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

AlphaFold

G5E8Q8

Predicted Effect

probably damaging
Transcript: ENSMUST00000113599
AA Change: T601P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109229
Gene: ENSMUSG00000056492
AA Change: T601P

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

probably damaging
Transcript: ENSMUST00000225962
AA Change: T396P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000226087
AA Change: T601P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.0925

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

95% (57/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	A	T	12: 8,066,083 (GRCm39)	I4318F	possibly damaging	Het
Apol7c	T	G	15: 77,410,589 (GRCm39)	D119A	probably benign	Het
App	G	T	16: 84,853,321 (GRCm39)	D252E	unknown	Het
C4a	T	A	17: 35,033,885 (GRCm39)		noncoding transcript	Het
Cacna1b	T	C	2: 24,592,632 (GRCm39)	Y515C	probably damaging	Het
Cacna1f	G	T	X: 7,476,213 (GRCm39)	A123S	probably damaging	Het
Cldn6	G	C	17: 23,900,494 (GRCm39)	A153P	probably benign	Het
Cmya5	T	C	13: 93,228,464 (GRCm39)	N2208S	probably benign	Het
Csnk1g1	A	G	9: 65,927,135 (GRCm39)	T101A	probably benign	Het
Ddx46	T	A	13: 55,811,049 (GRCm39)	D544E	probably benign	Het
Dmxl1	T	A	18: 50,011,084 (GRCm39)	C1080*	probably null	Het
Dst	T	C	1: 34,290,959 (GRCm39)	S3335P	probably damaging	Het
Efnb3	T	C	11: 69,446,771 (GRCm39)	K313R	probably damaging	Het
Elf2	G	A	3: 51,215,570 (GRCm39)	Q47*	probably null	Het
Epc2	A	G	2: 49,437,566 (GRCm39)	K657E	possibly damaging	Het
Ephx4	A	G	5: 107,551,679 (GRCm39)		probably benign	Het
Ereg	T	C	5: 91,234,659 (GRCm39)	I24T	probably benign	Het
Evc2	C	A	5: 37,496,013 (GRCm39)	A41D	possibly damaging	Het
Fkbp15	A	G	4: 62,254,651 (GRCm39)	V283A	probably benign	Het
Flrt3	T	C	2: 140,502,327 (GRCm39)	T434A	probably damaging	Het
Gm572	A	G	4: 148,739,322 (GRCm39)	D50G	possibly damaging	Het
Hecw1	C	T	13: 14,490,749 (GRCm39)	D748N	probably damaging	Het
Hivep3	A	C	4: 119,953,286 (GRCm39)	H534P	possibly damaging	Het
Hspa4l	C	A	3: 40,721,241 (GRCm39)		probably null	Het
Ipo7	T	C	7: 109,628,919 (GRCm39)	M63T	possibly damaging	Het
Ipo7	A	T	7: 109,647,423 (GRCm39)	T614S	possibly damaging	Het
Krt87	T	G	15: 101,385,395 (GRCm39)	M326L	probably benign	Het
Mbd5	T	A	2: 49,162,978 (GRCm39)	N261K	probably damaging	Het
Mcam	T	A	9: 44,045,994 (GRCm39)	L3Q	probably damaging	Het
Mcoln3	C	A	3: 145,846,247 (GRCm39)	T519K	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mrgprx1	C	A	7: 47,670,941 (GRCm39)	A269S	probably damaging	Het
Mypn	T	C	10: 63,028,487 (GRCm39)	E192G	probably benign	Het
Nup205	C	A	6: 35,168,962 (GRCm39)	P397Q	probably benign	Het
Obsl1	A	C	1: 75,464,693 (GRCm39)	L1576R	possibly damaging	Het
Ofcc1	A	G	13: 40,168,937 (GRCm39)	S817P	probably benign	Het
Or6c210	A	T	10: 129,496,400 (GRCm39)	M242L	probably benign	Het
Or8b12c	A	T	9: 37,715,486 (GRCm39)	H93L	probably benign	Het
Pcdhgb7	A	G	18: 37,887,125 (GRCm39)	Y765C	possibly damaging	Het
Pde7a	A	G	3: 19,365,026 (GRCm39)		probably null	Het
Phip	C	T	9: 82,782,922 (GRCm39)		probably benign	Het
Rhbdl2	T	A	4: 123,703,728 (GRCm39)	M1K	probably null	Het
Ripor2	C	T	13: 24,905,694 (GRCm39)	P947S	probably benign	Het
Sf3a3	A	G	4: 124,618,932 (GRCm39)	T298A	probably benign	Het
Slc25a29	C	T	12: 108,797,097 (GRCm39)		probably benign	Het
Spinkl	T	G	18: 44,307,650 (GRCm39)	T4P	possibly damaging	Het
Stk33	G	A	7: 108,879,002 (GRCm39)	S449L	probably benign	Het
Suz12	T	A	11: 79,892,988 (GRCm39)		probably benign	Het
Timp2	T	A	11: 118,201,497 (GRCm39)	I124F	probably damaging	Het
Tlr1	C	T	5: 65,083,180 (GRCm39)	D466N	probably benign	Het
Tmem200b	A	G	4: 131,649,781 (GRCm39)	I234V	possibly damaging	Het
Ubr1	C	A	2: 120,801,084 (GRCm39)		probably benign	Het
Usp33	C	A	3: 152,074,149 (GRCm39)	Q332K	probably benign	Het
Zfr	A	G	15: 12,156,416 (GRCm39)	E634G	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
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'- AGGAACCTACCACTGCATATTTAG -3'
(R):5'- AAATGGATCCCATGGGCCTC -3'

Sequencing Primer
(F):5'- TTTGGAAGCCAGTGGTCT -3'
(R):5'- GAATCCCCTATGATAGCTTAGGCCG -3'

Posted On

2015-07-06