Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01844:Rxfp3'

178156

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rxfp3

Ensembl Gene

ENSMUSG00000060735

Gene Name

relaxin family peptide receptor 3

Synonyms

Rln3r1, Salpr

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01844

Quality Score

Status

Chromosome

Chromosomal Location

11033803-11038054 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11037132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 80 (V80E)

Ref Sequence

ENSEMBL: ENSMUSP00000062741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058007]

AlphaFold

Q8BGE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000058007
AA Change: V80E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062741
Gene: ENSMUSG00000060735
AA Change: V80E

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
low complexity region	59	71	N/A	INTRINSIC
Pfam:7tm_1	98	392	1.7e-48	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display a subtle decrease in anxiety related behaviors and hypoactivity in their home cages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	G	17: 84,989,453 (GRCm39)	I85T	probably damaging	Het
Amer2	A	G	14: 60,617,356 (GRCm39)	D391G	possibly damaging	Het
Atp13a3	A	T	16: 30,180,781 (GRCm39)	C83S	probably benign	Het
Bdh2	A	T	3: 134,994,080 (GRCm39)	Q54L	probably benign	Het
Cep128	A	G	12: 90,975,628 (GRCm39)	S1051P	probably benign	Het
Dop1a	A	G	9: 86,396,138 (GRCm39)	T865A	probably damaging	Het
Epha8	C	A	4: 136,658,360 (GRCm39)	*1005L	probably null	Het
Etl4	T	C	2: 20,811,493 (GRCm39)	V1509A	probably benign	Het
Gucy1b1	T	C	3: 81,953,833 (GRCm39)	E161G	possibly damaging	Het
Hepacam	T	A	9: 37,291,912 (GRCm39)	V80E	probably damaging	Het
Ireb2	A	G	9: 54,772,641 (GRCm39)	K24E	probably benign	Het
Itch	T	A	2: 155,014,467 (GRCm39)	D101E	possibly damaging	Het
Itch	T	A	2: 155,014,406 (GRCm39)	F81Y	possibly damaging	Het
Kctd16	A	G	18: 40,390,373 (GRCm39)	I115M	probably damaging	Het
Klf7	C	A	1: 64,117,933 (GRCm39)	Q221H	probably benign	Het
Kptn	A	G	7: 15,857,897 (GRCm39)	T242A	probably benign	Het
Macf1	A	G	4: 123,334,485 (GRCm39)	F4420S	probably benign	Het
Mthfd2	A	G	6: 83,288,792 (GRCm39)		probably null	Het
Mtrf1l	A	C	10: 5,764,112 (GRCm39)	L284V	probably null	Het
Neb	C	T	2: 52,060,561 (GRCm39)	V2259I	probably benign	Het
Or4c111	A	T	2: 88,843,814 (GRCm39)	V198E	possibly damaging	Het
Or9i14	A	T	19: 13,792,180 (GRCm39)	M258K	possibly damaging	Het
Padi1	A	T	4: 140,556,746 (GRCm39)	C154S	probably damaging	Het
Paxip1	T	C	5: 27,956,036 (GRCm39)	T903A	probably benign	Het
Phactr2	T	A	10: 13,129,181 (GRCm39)	L292F	probably benign	Het
Pkhd1l1	G	A	15: 44,362,796 (GRCm39)		probably benign	Het
Pnpla7	T	C	2: 24,940,985 (GRCm39)		probably null	Het
Rif1	T	A	2: 52,002,555 (GRCm39)	I2003K	probably benign	Het
Sart3	T	A	5: 113,883,709 (GRCm39)	K768*	probably null	Het
Slc35f5	C	T	1: 125,517,612 (GRCm39)	T470I	probably damaging	Het
Smg8	A	T	11: 86,971,102 (GRCm39)	Y890N	probably damaging	Het
Spata31	T	C	13: 65,068,968 (GRCm39)	V372A	possibly damaging	Het
Tbc1d30	A	T	10: 121,103,084 (GRCm39)	D649E	probably benign	Het
Tctn3	G	A	19: 40,600,581 (GRCm39)	T3I	probably damaging	Het
Tns3	G	A	11: 8,387,177 (GRCm39)	P1337S	possibly damaging	Het
Vmn2r15	T	A	5: 109,434,135 (GRCm39)	*856C	probably null	Het
Vmn2r61	A	T	7: 41,909,639 (GRCm39)	I55F	probably benign	Het
Zbtb41	C	T	1: 139,375,065 (GRCm39)	P842S	probably benign	Het
Zc3h13	A	G	14: 75,581,209 (GRCm39)		probably benign	Het

Other mutations in Rxfp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00870:Rxfp3	APN	15	11,036,391 (GRCm39)	missense	probably damaging	0.98
IGL00870:Rxfp3	APN	15	11,036,301 (GRCm39)	missense	probably damaging	0.99
IGL02998:Rxfp3	APN	15	11,037,054 (GRCm39)	missense	probably damaging	0.98
IGL03079:Rxfp3	APN	15	11,036,909 (GRCm39)	missense	possibly damaging	0.91
R0462:Rxfp3	UTSW	15	11,037,063 (GRCm39)	missense	probably damaging	1.00
R1567:Rxfp3	UTSW	15	11,036,187 (GRCm39)	missense	probably benign	0.00
R1616:Rxfp3	UTSW	15	11,036,389 (GRCm39)	missense	probably damaging	0.96
R2389:Rxfp3	UTSW	15	11,036,770 (GRCm39)	missense	probably damaging	0.97
R2432:Rxfp3	UTSW	15	11,036,226 (GRCm39)	missense	probably damaging	1.00
R3081:Rxfp3	UTSW	15	11,037,303 (GRCm39)	missense	probably benign	0.00
R4936:Rxfp3	UTSW	15	11,036,866 (GRCm39)	missense	probably damaging	1.00
R4963:Rxfp3	UTSW	15	11,036,367 (GRCm39)	missense	probably damaging	1.00
R5788:Rxfp3	UTSW	15	11,036,250 (GRCm39)	missense	possibly damaging	0.58
R6679:Rxfp3	UTSW	15	11,035,956 (GRCm39)	missense	probably damaging	1.00
R7148:Rxfp3	UTSW	15	11,036,863 (GRCm39)	missense	possibly damaging	0.66
R7252:Rxfp3	UTSW	15	11,036,025 (GRCm39)	missense	probably benign	0.40
R7495:Rxfp3	UTSW	15	11,036,011 (GRCm39)	missense	probably damaging	1.00
R7555:Rxfp3	UTSW	15	11,036,362 (GRCm39)	missense	probably damaging	1.00
R7743:Rxfp3	UTSW	15	11,037,216 (GRCm39)	missense	probably damaging	0.99
R8361:Rxfp3	UTSW	15	11,036,784 (GRCm39)	missense	probably benign	0.05
R9717:Rxfp3	UTSW	15	11,037,111 (GRCm39)	missense	possibly damaging	0.90
X0065:Rxfp3	UTSW	15	11,036,515 (GRCm39)	missense	probably benign	0.45

Posted On

2014-05-07