Mutagenetix > Incidental Mutation

Incidental Mutation 'R6602:Adgrf5'

525390

Institutional Source

Beutler Lab

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 #

R6602 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43671342-43770448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43761195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 963 (N963K)

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 benign
Transcript: ENSMUST00000113599
AA Change: N963K

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109229
Gene: ENSMUSG00000056492
AA Change: N963K

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: ENSMUST00000225962
AA Change: N758K

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000226087
AA Change: N963K

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (43/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 125,365,993 (GRCm39)	L250P	probably damaging	Het
4921539E11Rik	T	C	4: 103,112,769 (GRCm39)	H12R	probably benign	Het
Abca4	A	C	3: 121,932,150 (GRCm39)	Q268P	probably benign	Het
Arl10	A	G	13: 54,726,750 (GRCm39)	D176G	probably damaging	Het
Btnl1	T	A	17: 34,604,722 (GRCm39)	M501K	probably damaging	Het
Ccdc162	G	T	10: 41,491,976 (GRCm39)	T1079K	probably benign	Het
Cd163	T	A	6: 124,288,594 (GRCm39)	W342R	probably damaging	Het
Cd70	T	C	17: 57,456,562 (GRCm39)	S14G	probably benign	Het
Chil4	C	A	3: 106,117,906 (GRCm39)	K121N	probably benign	Het
Csf1r	A	G	18: 61,243,497 (GRCm39)	D171G	possibly damaging	Het
Cyp4a31	A	T	4: 115,426,904 (GRCm39)		probably null	Het
Dapk1	A	T	13: 60,897,018 (GRCm39)	I746F	probably benign	Het
Erbb4	A	G	1: 68,409,662 (GRCm39)	S192P	probably damaging	Het
Exoc8	C	A	8: 125,623,150 (GRCm39)	V406L	probably damaging	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Greb1	A	T	12: 16,759,441 (GRCm39)	V652E	probably benign	Het
Ift88	A	G	14: 57,744,716 (GRCm39)	S745G	probably benign	Het
Il18bp	T	C	7: 101,665,237 (GRCm39)		probably benign	Het
Il6st	A	G	13: 112,640,947 (GRCm39)	T908A	probably damaging	Het
Klk1b11	A	G	7: 43,424,198 (GRCm39)	S6G	probably benign	Het
Mastl	T	C	2: 23,022,689 (GRCm39)	Y678C	probably benign	Het
Msra	A	T	14: 64,360,788 (GRCm39)	H184Q	probably benign	Het
Muc16	A	C	9: 18,520,772 (GRCm39)		probably null	Het
Myo3a	T	G	2: 22,467,799 (GRCm39)	L351R	probably damaging	Het
Npy5r	GCTGTGAAACACTG	GCTG	8: 67,134,192 (GRCm39)		probably null	Het
Or4d2	T	C	11: 87,784,478 (GRCm39)	T91A	probably benign	Het
Or7d11	C	T	9: 19,966,342 (GRCm39)	R139Q	probably benign	Het
Or7g18	A	G	9: 18,787,145 (GRCm39)	D174G	possibly damaging	Het
Pcdhb18	A	T	18: 37,623,533 (GRCm39)	I288F	probably damaging	Het
Pitpna	T	G	11: 75,511,141 (GRCm39)	V238G	possibly damaging	Het
Ppfibp1	T	A	6: 146,879,719 (GRCm39)	V81E	possibly damaging	Het
Rab11fip2	T	A	19: 59,931,288 (GRCm39)	T49S	probably damaging	Het
Rsl24d1	T	A	9: 73,020,792 (GRCm39)	I3N	possibly damaging	Het
Rtn1	T	C	12: 72,266,092 (GRCm39)	N161S	probably damaging	Het
Shank1	A	G	7: 44,001,760 (GRCm39)	I1151V	probably benign	Het
Slc34a3	A	G	2: 25,119,221 (GRCm39)	S550P	probably damaging	Het
Slc4a1ap	A	G	5: 31,684,985 (GRCm39)	H207R	probably damaging	Het
Sphkap	T	A	1: 83,253,479 (GRCm39)	K1423N	possibly damaging	Het
Ttn	A	G	2: 76,712,097 (GRCm39)		probably benign	Het
Ubqln5	T	A	7: 103,778,696 (GRCm39)	S43C	probably benign	Het
Vps13d	G	A	4: 144,830,234 (GRCm39)		probably benign	Het
Wwp1	A	T	4: 19,641,816 (GRCm39)	V413D	probably damaging	Het
Zfp267	G	T	3: 36,219,004 (GRCm39)	L341F	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
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
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
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'- TCAAAGCCATCCTTGCCCAG -3'
(R):5'- GCTTCCACAACTAGACAGGC -3'

Sequencing Primer
(F):5'- CTTGCCCAGGATGTACAGAG -3'
(R):5'- GCTAAGCTGACTATGGAAAACC -3'

Posted On

2018-06-22