Mutagenetix > Incidental Mutation

Incidental Mutation 'R0042:Adgrf3'

15656

Institutional Source

Beutler Lab

Gene Symbol

Adgrf3

Ensembl Gene

ENSMUSG00000067642

Gene Name

adhesion G protein-coupled receptor F3

Synonyms

Gpr113, LOC381628, PGR23

MMRRC Submission

038336-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0042 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

30193431-30205722 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30197428 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 534 (L534P)

Ref Sequence

ENSEMBL: ENSMUSP00000085440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088117] [ENSMUST00000125367]

AlphaFold

Q58Y75

Predicted Effect

probably damaging
Transcript: ENSMUST00000088117
AA Change: L534P

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

SMART Domains

Protein: ENSMUSP00000085440
Gene: ENSMUSG00000067642
AA Change: L534P

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	85	97	N/A	INTRINSIC
Blast:IG	163	252	2e-20	BLAST
Blast:CCP	341	399	1e-6	BLAST
low complexity region	403	415	N/A	INTRINSIC
low complexity region	471	483	N/A	INTRINSIC
GPS	632	684	2.68e-17	SMART
Pfam:7tm_2	687	935	1e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125367

SMART Domains

Protein: ENSMUSP00000120958
Gene: ENSMUSG00000067642

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135322

Meta Mutation Damage Score

0.5735

Coding Region Coverage

1x: 81.9%
3x: 73.7%
10x: 53.7%
20x: 34.5%

Validation Efficiency

94% (58/62)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	C	A	17: 25,947,982	E194*	probably null	Het
Abca1	C	T	4: 53,059,245		probably benign	Het
Ank2	T	C	3: 126,936,631	D3568G	probably damaging	Het
Atr	T	A	9: 95,927,356		probably benign	Het
Ccnb2	A	G	9: 70,419,053	V34A	probably benign	Het
Dmxl1	C	A	18: 49,864,035	T466K	probably benign	Het
Eya1	T	C	1: 14,184,489	D373G	probably damaging	Het
Fam120a	A	G	13: 48,934,014	V290A	probably damaging	Het
Gpr179	C	T	11: 97,334,931	V2133I	probably benign	Het
Grb10	G	T	11: 11,936,798	H435Q	probably damaging	Het
Gzmm	T	C	10: 79,694,565	I190T	probably benign	Het
H2-Q3	A	G	17: 35,359,847		noncoding transcript	Het
Hspb7	A	G	4: 141,423,934	E129G	probably damaging	Het
Il17ra	T	C	6: 120,472,125		probably benign	Het
Itgb3	A	G	11: 104,667,140	T787A	possibly damaging	Het
Krt4	T	G	15: 101,922,752		probably benign	Het
Lgsn	C	T	1: 31,190,453	T85I	probably benign	Het
Metap1	C	T	3: 138,472,157	V217I	probably benign	Het
Mib2	A	T	4: 155,659,440	C48*	probably null	Het
Mroh4	T	A	15: 74,610,305	I768F	probably damaging	Het
Npas3	T	A	12: 54,048,841	D361E	probably damaging	Het
P4hb	G	A	11: 120,568,266	R134C	probably damaging	Het
Rbl1	A	G	2: 157,175,704		probably benign	Het
Rdh10	T	A	1: 16,108,036		probably benign	Het
Spata31	A	T	13: 64,922,563	I842L	probably benign	Het
Stk32b	A	C	5: 37,716,748	D13E	probably benign	Het
Svep1	T	C	4: 58,123,192	D708G	possibly damaging	Het
Taar6	T	C	10: 23,985,123	D175G	probably benign	Het
Tmod4	T	C	3: 95,129,788	D164G	possibly damaging	Het
Ttc23l	A	C	15: 10,551,541	L33W	probably damaging	Het
Ttc39d	T	C	17: 80,215,950	Y13H	probably benign	Het
Utp18	G	T	11: 93,875,858	T309K	probably damaging	Het
Vps11	G	T	9: 44,356,291	Y341*	probably null	Het
Vsig8	T	C	1: 172,560,358	V5A	possibly damaging	Het

Other mutations in Adgrf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03080:Adgrf3	APN	5	30196829	missense	probably benign	0.02
IGL03171:Adgrf3	APN	5	30196294	missense	probably damaging	1.00
R0010:Adgrf3	UTSW	5	30205609	splice site	probably benign
R0140:Adgrf3	UTSW	5	30196381	missense	probably benign	0.19
R0617:Adgrf3	UTSW	5	30195080	missense	probably benign	0.25
R0748:Adgrf3	UTSW	5	30196876	missense	probably damaging	1.00
R1291:Adgrf3	UTSW	5	30199534	missense	probably damaging	0.99
R1330:Adgrf3	UTSW	5	30195095	missense	probably benign	0.24
R1468:Adgrf3	UTSW	5	30202229	splice site	probably benign
R1695:Adgrf3	UTSW	5	30203555	missense	probably benign	0.05
R1716:Adgrf3	UTSW	5	30197551	missense	probably benign	0.03
R1844:Adgrf3	UTSW	5	30199213	missense	probably damaging	0.96
R1935:Adgrf3	UTSW	5	30202306	missense	probably benign	0.00
R1936:Adgrf3	UTSW	5	30202306	missense	probably benign	0.00
R2059:Adgrf3	UTSW	5	30199491	missense	possibly damaging	0.91
R2656:Adgrf3	UTSW	5	30196438	missense	possibly damaging	0.96
R2913:Adgrf3	UTSW	5	30196994	missense	probably damaging	1.00
R2914:Adgrf3	UTSW	5	30196994	missense	probably damaging	1.00
R2987:Adgrf3	UTSW	5	30197360	missense	probably damaging	1.00
R3797:Adgrf3	UTSW	5	30196823	missense	possibly damaging	0.49
R3798:Adgrf3	UTSW	5	30196823	missense	possibly damaging	0.49
R3799:Adgrf3	UTSW	5	30196823	missense	possibly damaging	0.49
R3934:Adgrf3	UTSW	5	30200434	unclassified	probably benign
R4043:Adgrf3	UTSW	5	30204362	missense	probably benign	0.00
R4080:Adgrf3	UTSW	5	30197369	nonsense	probably null
R4575:Adgrf3	UTSW	5	30202257	missense	probably benign	0.00
R4754:Adgrf3	UTSW	5	30197617	critical splice acceptor site	probably null
R4819:Adgrf3	UTSW	5	30198444	missense	possibly damaging	0.66
R4893:Adgrf3	UTSW	5	30200478	missense	probably benign	0.00
R4991:Adgrf3	UTSW	5	30199148	missense	probably benign	0.26
R5686:Adgrf3	UTSW	5	30197306	missense	probably damaging	1.00
R5965:Adgrf3	UTSW	5	30205639	missense	probably benign	0.00
R5997:Adgrf3	UTSW	5	30198362	critical splice donor site	probably null
R6103:Adgrf3	UTSW	5	30196267	missense	probably damaging	1.00
R6244:Adgrf3	UTSW	5	30197533	missense	probably benign	0.17
R6409:Adgrf3	UTSW	5	30197314	missense	probably damaging	0.96
R6575:Adgrf3	UTSW	5	30196524	missense	possibly damaging	0.72
R6745:Adgrf3	UTSW	5	30203603	missense	probably benign	0.31
R6790:Adgrf3	UTSW	5	30196387	missense	probably benign	0.00
R6813:Adgrf3	UTSW	5	30197521	missense	probably damaging	0.96
R7202:Adgrf3	UTSW	5	30204380	nonsense	probably null
R7250:Adgrf3	UTSW	5	30195682	missense	probably damaging	1.00
R7353:Adgrf3	UTSW	5	30198497	missense	probably damaging	0.98
R7634:Adgrf3	UTSW	5	30202247	missense	probably benign	0.01
R7658:Adgrf3	UTSW	5	30197206	missense	probably benign	0.41
R8037:Adgrf3	UTSW	5	30199512	missense	probably damaging	1.00
R8281:Adgrf3	UTSW	5	30197303	missense	possibly damaging	0.46
R8717:Adgrf3	UTSW	5	30198581	unclassified	probably benign
R8857:Adgrf3	UTSW	5	30197067	nonsense	probably null
R8926:Adgrf3	UTSW	5	30200448	missense	possibly damaging	0.46
R9391:Adgrf3	UTSW	5	30195073	missense	possibly damaging	0.94
R9446:Adgrf3	UTSW	5	30196959	missense	probably benign	0.01
R9522:Adgrf3	UTSW	5	30199484	missense	possibly damaging	0.90
Z1088:Adgrf3	UTSW	5	30199120	missense	possibly damaging	0.90

Posted On

2012-12-21