Mutagenetix > Incidental Mutation

Incidental Mutation 'R5614:Rtp1'

438162

Institutional Source

Beutler Lab

Gene Symbol

Rtp1

Ensembl Gene

ENSMUSG00000033383

Gene Name

receptor transporter protein 1

Synonyms

LOC239766, LOC385871

MMRRC Submission

043275-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R5614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23247883-23252710 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23249940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 102 (Q102K)

Ref Sequence

ENSEMBL: ENSMUSP00000043416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038730]

AlphaFold

Q8C8C1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038730
AA Change: Q102K

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043416
Gene: ENSMUSG00000033383
AA Change: Q102K

Domain	Start	End	E-Value	Type
zf-3CxxC	87	197	3.5e-39	SMART
transmembrane domain	235	257	N/A	INTRINSIC

Meta Mutation Damage Score

0.0765

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (62/62)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit infertility and abnormal olfactory bulb development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,132 (GRCm39)	V1712A	probably damaging	Het
Ankmy2	T	C	12: 36,243,783 (GRCm39)	S333P	probably damaging	Het
Arfrp1	A	G	2: 181,001,236 (GRCm39)		probably benign	Het
Atp13a2	A	G	4: 140,719,493 (GRCm39)	T21A	probably benign	Het
Bud23	C	A	5: 135,087,966 (GRCm39)	A152S	probably benign	Het
Cant1	T	C	11: 118,299,569 (GRCm39)	D260G	probably benign	Het
Ces1b	T	C	8: 93,794,836 (GRCm39)	I254M	probably benign	Het
Ces1d	T	C	8: 93,902,832 (GRCm39)	T375A	probably benign	Het
Cfap54	A	G	10: 92,880,911 (GRCm39)	L384P	probably damaging	Het
Chrne	C	T	11: 70,505,879 (GRCm39)	V469I	possibly damaging	Het
Clspn	A	G	4: 126,474,755 (GRCm39)	E968G	probably damaging	Het
Col5a3	A	G	9: 20,694,772 (GRCm39)		probably benign	Het
Dtx4	T	C	19: 12,459,547 (GRCm39)	Y419C	probably damaging	Het
Fam171b	T	A	2: 83,643,217 (GRCm39)	I42N	probably damaging	Het
Fam43a	T	C	16: 30,420,490 (GRCm39)	I358T	possibly damaging	Het
Fasn	T	C	11: 120,704,154 (GRCm39)	S1422G	probably benign	Het
Fig4	A	T	10: 41,148,981 (GRCm39)	V157E	probably damaging	Het
Fus	T	C	7: 127,573,543 (GRCm39)		probably benign	Het
Hmcn2	G	T	2: 31,318,315 (GRCm39)	V3887F	probably damaging	Het
Hmgcll1	A	G	9: 75,988,675 (GRCm39)	Y182C	probably damaging	Het
Hook2	T	A	8: 85,729,137 (GRCm39)	I585N	probably damaging	Het
Iars2	T	C	1: 185,021,705 (GRCm39)	T866A	probably benign	Het
Iqca1l	G	A	5: 24,755,140 (GRCm39)	A330V	probably benign	Het
Lrit1	T	A	14: 36,783,911 (GRCm39)	M413K	probably benign	Het
Myl9	G	A	2: 156,623,083 (GRCm39)		probably benign	Het
Nelfa	A	T	5: 34,077,844 (GRCm39)	L179Q	probably damaging	Het
Nod2	A	T	8: 89,390,824 (GRCm39)	D355V	probably damaging	Het
Npbwr1	A	T	1: 5,987,030 (GRCm39)	S161R	probably damaging	Het
Nxpe2	A	T	9: 48,234,401 (GRCm39)	F289I	probably benign	Het
Odf2	A	G	2: 29,810,879 (GRCm39)	I538M	probably damaging	Het
Osbpl6	T	A	2: 76,398,453 (GRCm39)	V379E	probably damaging	Het
Pkhd1	A	G	1: 20,143,750 (GRCm39)	C3859R	possibly damaging	Het
Rgs1	G	T	1: 144,121,995 (GRCm39)	T99N	probably benign	Het
Rnf6	T	C	5: 146,154,910 (GRCm39)		probably null	Het
Sec24c	T	A	14: 20,732,806 (GRCm39)	V123E	possibly damaging	Het
Serpini2	T	C	3: 75,165,014 (GRCm39)		probably benign	Het
Stxbp5	A	T	10: 9,636,638 (GRCm39)		probably benign	Het
Tecta	A	G	9: 42,250,351 (GRCm39)	S1809P	probably damaging	Het
Tgfb2	T	A	1: 186,357,710 (GRCm39)	I394F	probably benign	Het
Thg1l	T	C	11: 45,841,054 (GRCm39)	Y175C	possibly damaging	Het
Tmem67	C	A	4: 12,061,755 (GRCm39)	K572N	possibly damaging	Het
Tollip	T	C	7: 141,445,825 (GRCm39)	T19A	probably damaging	Het
Ttn	A	G	2: 76,542,451 (GRCm39)	Y25185H	probably damaging	Het
Vgll2	A	T	10: 51,901,318 (GRCm39)	R83*	probably null	Het
Wfdc8	G	T	2: 164,445,123 (GRCm39)	A164E	probably damaging	Het
Ylpm1	T	C	12: 85,111,718 (GRCm39)		probably benign	Het
Zfp326	T	A	5: 106,036,361 (GRCm39)	S91T	probably damaging	Het
Zfp638	T	C	6: 83,906,623 (GRCm39)	F263L	probably damaging	Het
Zfp800	G	A	6: 28,243,135 (GRCm39)	T610I	probably damaging	Het
Zmym4	A	G	4: 126,804,729 (GRCm39)	F475L	possibly damaging	Het

Other mutations in Rtp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02276:Rtp1	APN	16	23,250,063 (GRCm39)	missense	probably benign	0.07
IGL02329:Rtp1	APN	16	23,249,943 (GRCm39)	missense	probably damaging	1.00
IGL02432:Rtp1	APN	16	23,250,154 (GRCm39)	missense	probably damaging	1.00
IGL02690:Rtp1	APN	16	23,250,132 (GRCm39)	missense	probably damaging	1.00
IGL03046:Rtp1	UTSW	16	23,248,044 (GRCm39)	missense	probably benign	0.30
P0028:Rtp1	UTSW	16	23,248,116 (GRCm39)	missense	probably damaging	1.00
R0319:Rtp1	UTSW	16	23,250,210 (GRCm39)	missense	probably damaging	1.00
R0377:Rtp1	UTSW	16	23,250,034 (GRCm39)	missense	probably damaging	0.98
R0972:Rtp1	UTSW	16	23,250,058 (GRCm39)	missense	probably damaging	0.99
R1498:Rtp1	UTSW	16	23,249,970 (GRCm39)	missense	probably benign	0.00
R1751:Rtp1	UTSW	16	23,250,124 (GRCm39)	missense	probably damaging	0.98
R1767:Rtp1	UTSW	16	23,250,124 (GRCm39)	missense	probably damaging	0.98
R1900:Rtp1	UTSW	16	23,248,049 (GRCm39)	missense	probably benign
R1921:Rtp1	UTSW	16	23,250,160 (GRCm39)	missense	probably damaging	1.00
R1922:Rtp1	UTSW	16	23,250,160 (GRCm39)	missense	probably damaging	1.00
R1927:Rtp1	UTSW	16	23,249,959 (GRCm39)	missense	probably damaging	1.00
R2102:Rtp1	UTSW	16	23,250,108 (GRCm39)	missense	probably benign	0.04
R5118:Rtp1	UTSW	16	23,250,285 (GRCm39)	missense	probably benign	0.00
R5484:Rtp1	UTSW	16	23,248,025 (GRCm39)	missense	probably benign
R8509:Rtp1	UTSW	16	23,248,064 (GRCm39)	missense	probably damaging	1.00
R8699:Rtp1	UTSW	16	23,250,133 (GRCm39)	missense	probably damaging	1.00
R9573:Rtp1	UTSW	16	23,250,159 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCCCTTGGGCACTCACATAG -3'
(R):5'- TCTCGCAAACTGGTGATGAGG -3'

Sequencing Primer
(F):5'- TCCTGGGGAAACTAATGGACCC -3'
(R):5'- CAAACTGGTGATGAGGTTGTCCAC -3'

Posted On

2016-10-26