Mutagenetix > Incidental Mutation

Incidental Mutation 'R2909:Rtp2'

261158

Institutional Source

Beutler Lab

Gene Symbol

Rtp2

Ensembl Gene

ENSMUSG00000047531

Gene Name

receptor transporter protein 2

Synonyms

LOC224055

MMRRC Submission

040496-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23744298-23749544 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23746235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 132 (E132G)

Ref Sequence

ENSEMBL: ENSMUSP00000062178 (fasta)

Gene Model

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

AlphaFold

Q80ZI2

Predicted Effect

probably damaging
Transcript: ENSMUST00000061030
AA Change: E132G

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

SMART Domains

Protein: ENSMUSP00000062178
Gene: ENSMUSG00000047531
AA Change: E132G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231038
AA Change: E152G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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
Actr5	G	A	2: 158,467,140 (GRCm39)	G27R	possibly damaging	Het
Bltp1	A	G	3: 37,002,102 (GRCm39)	D1349G	probably damaging	Het
Chrm3	G	T	13: 9,928,033 (GRCm39)	D334E	probably benign	Het
Clic5	A	C	17: 44,586,146 (GRCm39)	T212P	probably benign	Het
Dapk1	G	A	13: 60,864,631 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,049,114 (GRCm39)	L3262H	probably damaging	Het
Epg5	G	C	18: 78,026,691 (GRCm39)	W1227C	probably damaging	Het
Fancm	T	C	12: 65,171,630 (GRCm39)	S1757P	probably damaging	Het
Gm3604	G	C	13: 62,516,832 (GRCm39)	H509D	probably benign	Het
Gramd4	G	T	15: 86,006,384 (GRCm39)	E163*	probably null	Het
Hip1r	T	A	5: 124,138,656 (GRCm39)		probably null	Het
Ice1	G	T	13: 70,744,292 (GRCm39)	T2097K	probably damaging	Het
Il12a	TCAC	TC	3: 68,605,320 (GRCm39)		probably null	Het
Kbtbd7	A	G	14: 79,665,922 (GRCm39)	T585A	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnq3	T	C	15: 65,897,085 (GRCm39)	T272A	possibly damaging	Het
Ly6l	T	G	15: 75,321,481 (GRCm39)		probably null	Het
Minar1	T	C	9: 89,473,331 (GRCm39)	N860S	probably damaging	Het
Mrps11	C	A	7: 78,438,497 (GRCm39)	A83E	probably damaging	Het
Or1af1	C	T	2: 37,110,188 (GRCm39)	P229L	probably damaging	Het
Pax7	T	C	4: 139,556,007 (GRCm39)	I156V	possibly damaging	Het
Plbd1	A	T	6: 136,611,572 (GRCm39)	V235D	probably damaging	Het
Pml	T	C	9: 58,154,526 (GRCm39)	S76G	possibly damaging	Het
Ppp1r42	T	A	1: 10,073,637 (GRCm39)		probably benign	Het
Rsl24d1	T	C	9: 73,029,585 (GRCm39)	L61S	probably damaging	Het
Sgk1	A	G	10: 21,870,715 (GRCm39)	I23V	probably benign	Het
Sharpin	A	G	15: 76,234,811 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,404,105 (GRCm39)	Y533N	probably benign	Het
Slc12a9	T	C	5: 137,330,463 (GRCm39)	I81V	probably benign	Het
Stxbp5l	G	A	16: 37,028,548 (GRCm39)	T505M	possibly damaging	Het
Tmem40	A	G	6: 115,713,342 (GRCm39)		probably null	Het
Tnfrsf18	A	T	4: 156,112,727 (GRCm39)	N138Y	probably damaging	Het
Vmn2r87	A	T	10: 130,314,865 (GRCm39)	N240K	probably damaging	Het
Vmn2r91	A	G	17: 18,356,661 (GRCm39)	E776G	probably damaging	Het
Vmn2r92	T	A	17: 18,405,377 (GRCm39)	N840K	possibly damaging	Het
Vmn2r98	T	C	17: 19,287,664 (GRCm39)	I499T	probably damaging	Het

Other mutations in Rtp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03405:Rtp2	APN	16	23,746,326 (GRCm39)	missense	probably benign
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
R8724:Rtp2	UTSW	16	23,746,064 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TAAAACCAGCCTGGCCCTTC -3'
(R):5'- AGGTTCCACTGTTCCTGGTG -3'

Sequencing Primer
(F):5'- CCTTCTTCTTGGAGGCATCGGTATAG -3'
(R):5'- GCAATCTGCCAATGTCGTC -3'

Posted On

2015-01-23