Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03405:Rtp2'

421583

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rtp2

Ensembl Gene

ENSMUSG00000047531

Gene Name

receptor transporter protein 2

Synonyms

LOC224055

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03405

Quality Score

Status

Chromosome

Chromosomal Location

23744298-23749544 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 23746326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 122 (S122A)

Ref Sequence

ENSEMBL: ENSMUSP00000155556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061030] [ENSMUST00000231038]

AlphaFold

Q80ZI2

Predicted Effect

probably benign
Transcript: ENSMUST00000061030
AA Change: S102A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062178
Gene: ENSMUSG00000047531
AA Change: S102A

Domain	Start	End	E-Value	Type
zf-3CxxC	51	161	1.12e-46	SMART
transmembrane domain	194	216	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231038
AA Change: S122A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,907,229 (GRCm39)	V101A	probably benign	Het
Btbd3	G	A	2: 138,121,681 (GRCm39)	M121I	probably damaging	Het
Caprin1	G	A	2: 103,609,850 (GRCm39)	R143C	probably damaging	Het
Cfap206	A	G	4: 34,716,445 (GRCm39)	I340T	possibly damaging	Het
Chmp6	A	G	11: 119,806,273 (GRCm39)	Y33C	probably damaging	Het
Clstn3	T	C	6: 124,415,327 (GRCm39)	D679G	possibly damaging	Het
Col24a1	G	A	3: 145,020,918 (GRCm39)	A430T	possibly damaging	Het
Commd6	A	T	14: 101,874,508 (GRCm39)	V28E	probably damaging	Het
Eno2	T	A	6: 124,740,848 (GRCm39)	Y236F	probably benign	Het
Erbb4	T	C	1: 68,369,397 (GRCm39)	S415G	probably benign	Het
Evpl	A	G	11: 116,118,753 (GRCm39)	I648T	possibly damaging	Het
Fat1	T	A	8: 45,478,278 (GRCm39)	D2441E	probably damaging	Het
Fat4	T	C	3: 39,012,599 (GRCm39)	V2298A	probably benign	Het
Fbxl8	C	A	8: 105,994,752 (GRCm39)	T88K	probably benign	Het
Ganc	A	G	2: 120,264,247 (GRCm39)	H400R	probably damaging	Het
Helb	G	A	10: 119,925,701 (GRCm39)	T892I	probably damaging	Het
Jaml	A	T	9: 45,005,107 (GRCm39)	K124N	possibly damaging	Het
Llgl2	G	T	11: 115,741,668 (GRCm39)	E599D	probably benign	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nr2e1	G	A	10: 42,444,377 (GRCm39)	A244V	probably damaging	Het
Obscn	T	C	11: 58,890,950 (GRCm39)	K7194R	unknown	Het
Or2o1	A	G	11: 49,051,713 (GRCm39)		probably null	Het
Or5m8	A	G	2: 85,822,230 (GRCm39)	Q23R	possibly damaging	Het
Rasgrf2	A	T	13: 92,044,170 (GRCm39)	I961N	probably damaging	Het
Retreg3	T	C	11: 100,991,795 (GRCm39)	D46G	probably damaging	Het
Sbf2	T	A	7: 110,062,139 (GRCm39)	D146V	probably damaging	Het
Slc39a13	A	G	2: 90,893,448 (GRCm39)	V324A	probably damaging	Het
Sptan1	A	G	2: 29,915,593 (GRCm39)	T2013A	probably damaging	Het
Tnni3k	A	G	3: 154,498,404 (GRCm39)		probably benign	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Trpm2	G	A	10: 77,801,906 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,539,276 (GRCm39)	L34570P	possibly damaging	Het
Vmn2r100	T	C	17: 19,752,186 (GRCm39)	V806A	probably damaging	Het
Wdr70	A	G	15: 8,065,352 (GRCm39)	S237P	possibly damaging	Het
Wnk1	T	C	6: 119,930,856 (GRCm39)	N896S	probably benign	Het
Zan	T	A	5: 137,422,859 (GRCm39)	D2718V	unknown	Het

Other mutations in Rtp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1434:Rtp2	UTSW	16	23,746,193 (GRCm39)	missense	probably benign	0.01
R1468:Rtp2	UTSW	16	23,746,220 (GRCm39)	missense	probably damaging	1.00
R1468:Rtp2	UTSW	16	23,746,220 (GRCm39)	missense	probably damaging	1.00
R1619:Rtp2	UTSW	16	23,749,421 (GRCm39)	missense	probably damaging	1.00
R1738:Rtp2	UTSW	16	23,746,423 (GRCm39)	missense	probably benign	0.01
R1944:Rtp2	UTSW	16	23,746,316 (GRCm39)	missense	possibly damaging	0.95
R2129:Rtp2	UTSW	16	23,746,457 (GRCm39)	missense	probably damaging	1.00
R2909:Rtp2	UTSW	16	23,746,235 (GRCm39)	missense	probably damaging	1.00
R8724:Rtp2	UTSW	16	23,746,064 (GRCm39)	missense	possibly damaging	0.83

Posted On

2016-08-02