Mutagenetix > Incidental Mutation

Incidental Mutation 'R0972:Rtp1'

82901

Institutional Source

Beutler Lab

Gene Symbol

Rtp1

Ensembl Gene

ENSMUSG00000033383

Gene Name

receptor transporter protein 1

Synonyms

LOC239766, LOC385871

MMRRC Submission

039101-MU

Accession Numbers

Essential gene?

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

Stock #

R0972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23247883-23252710 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23250058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 141 (D141V)

Ref Sequence

ENSEMBL: ENSMUSP00000043416 (fasta)

Gene Model

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

AlphaFold

Q8C8C1

Predicted Effect

probably damaging
Transcript: ENSMUST00000038730
AA Change: D141V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043416
Gene: ENSMUSG00000033383
AA Change: D141V

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

0.2203

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,168 (GRCm39)	R478Q	probably damaging	Het
Adgrf5	A	T	17: 43,761,874 (GRCm39)	S1190C	probably damaging	Het
Akr1a1	T	C	4: 116,497,204 (GRCm39)		probably null	Het
Bco2	A	T	9: 50,447,615 (GRCm39)	D369E	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Brsk2	C	G	7: 141,547,441 (GRCm39)		probably benign	Het
Cct8	A	G	16: 87,283,508 (GRCm39)	V269A	possibly damaging	Het
Cdh12	A	T	15: 21,237,850 (GRCm39)	Q28H	probably benign	Het
Cep290	A	G	10: 100,354,624 (GRCm39)	T896A	probably benign	Het
Chrm2	T	A	6: 36,501,401 (GRCm39)	N419K	possibly damaging	Het
Clasp2	A	T	9: 113,676,773 (GRCm39)	H168L	possibly damaging	Het
Cog3	A	T	14: 75,954,610 (GRCm39)	M643K	probably benign	Het
Col6a5	A	G	9: 105,817,484 (GRCm39)	S276P	unknown	Het
Colgalt2	T	C	1: 152,347,495 (GRCm39)	V143A	probably damaging	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Ddx56	A	T	11: 6,217,718 (GRCm39)	M1K	probably null	Het
Dnah3	C	T	7: 119,634,563 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,136,176 (GRCm39)	T988A	possibly damaging	Het
Esp15	T	A	17: 39,953,557 (GRCm39)	F15I	possibly damaging	Het
Fam237b	T	A	5: 5,625,512 (GRCm39)	D69E	probably benign	Het
Fbh1	C	T	2: 11,768,899 (GRCm39)		probably benign	Het
Gucy1b2	A	T	14: 62,646,127 (GRCm39)	I572N	possibly damaging	Het
Gucy1b2	T	C	14: 62,651,818 (GRCm39)	I393V	possibly damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Herc1	C	A	9: 66,279,427 (GRCm39)	R112S	probably damaging	Het
Itga7	G	A	10: 128,778,746 (GRCm39)	R291H	probably damaging	Het
Jag1	A	G	2: 136,925,371 (GRCm39)	L1077S	possibly damaging	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klrc2	T	C	6: 129,635,726 (GRCm39)	Y134C	probably damaging	Het
Map2k2	C	A	10: 80,955,482 (GRCm39)	D67E	probably benign	Het
Mest	G	A	6: 30,740,683 (GRCm39)	W14*	probably null	Het
Mier2	A	G	10: 79,380,455 (GRCm39)		probably benign	Het
Mog	A	G	17: 37,328,424 (GRCm39)	V169A	probably benign	Het
Mov10l1	T	C	15: 88,905,482 (GRCm39)	V879A	probably damaging	Het
Mrgpra9	A	G	7: 46,885,203 (GRCm39)	S155P	probably damaging	Het
Mtmr10	A	G	7: 63,976,457 (GRCm39)	D418G	probably damaging	Het
Mtpn	T	C	6: 35,498,911 (GRCm39)	D58G	probably null	Het
Myh8	A	G	11: 67,188,585 (GRCm39)	R1056G	probably damaging	Het
Nek1	T	A	8: 61,542,465 (GRCm39)		probably null	Het
Or4k38	T	C	2: 111,165,763 (GRCm39)	Y220C	probably benign	Het
Or5al7	A	C	2: 85,992,648 (GRCm39)	L215R	possibly damaging	Het
Or8b36	T	A	9: 37,937,856 (GRCm39)	F251L	possibly damaging	Het
Pcnx1	G	A	12: 81,960,186 (GRCm39)	D181N	probably damaging	Het
Pdzrn4	A	G	15: 92,655,592 (GRCm39)	D495G	probably benign	Het
Plppr3	A	G	10: 79,700,920 (GRCm39)	S641P	probably damaging	Het
Pramel11	T	A	4: 143,623,533 (GRCm39)	T214S	probably benign	Het
Prelp	A	T	1: 133,842,414 (GRCm39)	Y244N	probably damaging	Het
Prg2	C	A	2: 84,812,393 (GRCm39)	N34K	probably benign	Het
Ptp4a1	A	G	1: 30,984,080 (GRCm39)	V46A	possibly damaging	Het
Rpl6	A	G	5: 121,346,565 (GRCm39)	D222G	possibly damaging	Het
Sacs	T	A	14: 61,449,412 (GRCm39)	Y3819*	probably null	Het
Serinc5	A	G	13: 92,825,128 (GRCm39)	T186A	probably benign	Het
Slc15a2	A	G	16: 36,577,501 (GRCm39)	S422P	probably benign	Het
Slc2a8	A	T	2: 32,865,379 (GRCm39)	V366D	probably benign	Het
Smarca1	T	C	X: 46,938,864 (GRCm39)	R715G	possibly damaging	Het
Spdef	C	T	17: 27,933,997 (GRCm39)	A275T	probably damaging	Het
Tcf21	T	C	10: 22,695,621 (GRCm39)	K61R	probably benign	Het
Tep1	A	G	14: 51,061,753 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,736,490 (GRCm39)		probably benign	Het
Thap11	T	A	8: 106,582,810 (GRCm39)	I273N	probably damaging	Het
Tmem129	T	A	5: 33,812,112 (GRCm39)	E262V	possibly damaging	Het
Tnxb	A	G	17: 34,904,117 (GRCm39)	Y1086C	probably damaging	Het
Togaram2	A	G	17: 72,014,309 (GRCm39)	Y619C	probably damaging	Het
Top1	C	T	2: 160,562,945 (GRCm39)	A717V	probably damaging	Het
Trpm7	G	A	2: 126,646,969 (GRCm39)	P1507S	probably benign	Het
Ubr2	A	T	17: 47,245,187 (GRCm39)		probably null	Het
Usp30	T	C	5: 114,249,925 (GRCm39)		probably benign	Het
Vmn1r3	T	A	4: 3,185,125 (GRCm39)	I61F	probably damaging	Het
Zbtb22	C	T	17: 34,136,326 (GRCm39)	T157I	possibly damaging	Het
Zfp677	A	T	17: 21,618,572 (GRCm39)	H543L	probably damaging	Het
Zranb3	G	T	1: 127,884,383 (GRCm39)	P1001Q	probably 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
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
R5614:Rtp1	UTSW	16	23,249,940 (GRCm39)	missense	possibly damaging	0.71
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'- CTTGGGCACTCACATAGAGCAAGG -3'
(R):5'- GATGATGAGCATCAAAACCGTGGC -3'

Sequencing Primer
(F):5'- CTGGGGACTGTCAACACAC -3'
(R):5'- AGCCTGAGCCTGTTTCAGC -3'

Posted On

2013-11-08