Mutagenetix > Incidental Mutations

Incidental Mutation 'R7113:Rtp3'

551633

Institutional Source

Beutler Lab

Gene Symbol

Rtp3

Ensembl Gene

ENSMUSG00000066319

Gene Name

receptor transporter protein 3

Synonyms

Tmem7

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R7113 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110984935-110990583 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 110986699 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 199 (C199W)

Ref Sequence

ENSEMBL: ENSMUSP00000081985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035076] [ENSMUST00000084922] [ENSMUST00000198702] [ENSMUST00000199891]

Predicted Effect

probably benign
Transcript: ENSMUST00000035076

SMART Domains

Protein: ENSMUSP00000035076
Gene: ENSMUSG00000032495

Domain	Start	End	E-Value	Type
Blast:LRR	143	165	5e-7	BLAST
LRR_TYP	166	189	4.87e-4	SMART
LRR	236	258	1.41e1	SMART
LRR	259	282	2.27e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000084922
AA Change: C199W

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081985
Gene: ENSMUSG00000066319
AA Change: C199W

Domain	Start	End	E-Value	Type
zf-3CxxC	52	164	2.13e-52	SMART
low complexity region	356	404	N/A	INTRINSIC
low complexity region	458	474	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198702

SMART Domains

Protein: ENSMUSP00000143100
Gene: ENSMUSG00000066319

Domain	Start	End	E-Value	Type
Pfam:zf-3CxxC	52	81	2.5e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199891

SMART Domains

Protein: ENSMUSP00000143305
Gene: ENSMUSG00000066319

Domain	Start	End	E-Value	Type
zf-3CxxC	52	164	2.13e-52	SMART
low complexity region	356	404	N/A	INTRINSIC
low complexity region	458	474	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

95% (53/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,312,759	S226P	probably benign	Het
Adarb2	T	C	13: 8,731,845	Y586H	probably damaging	Het
Ano7	A	T	1: 93,385,620	E160V	probably benign	Het
Apob	G	C	12: 7,995,539	A895P	probably damaging	Het
Ccdc157	T	C	11: 4,148,889	T206A	possibly damaging	Het
Ceacam18	A	G	7: 43,641,976	N281D	probably benign	Het
Chil4	T	C	3: 106,202,767	D337G	probably damaging	Het
Chil4	T	G	3: 106,214,348	K62Q	probably benign	Het
Cic	A	T	7: 25,273,444	I867F	probably benign	Het
Cntln	A	G	4: 85,049,827	E761G	probably damaging	Het
Cyp2d26	T	A	15: 82,790,202	Y493F	probably benign	Het
Dync2h1	A	T	9: 7,075,788	F3026L	probably benign	Het
Ehd3	T	A	17: 73,830,184	D449E	probably benign	Het
Gm5152	G	A	5: 10,243,010	P189S		Het
Gm884	A	G	11: 103,618,799	I781T	unknown	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Herc2	T	G	7: 56,203,849	D3696E	probably damaging	Het
Hivep3	T	A	4: 120,098,369	I1294N	probably damaging	Het
Il19	T	C	1: 130,934,995	I139V	probably benign	Het
Jmjd1c	T	A	10: 67,158,001	I87N	probably damaging	Het
Kcnma1	A	G	14: 23,463,156	Y392H	probably damaging	Het
Kcnv2	T	C	19: 27,324,048	L433P	probably damaging	Het
Kif9	A	T	9: 110,506,664	N378Y	probably damaging	Het
Lonrf1	A	T	8: 36,230,510	V440E	probably benign	Het
Manea	A	T	4: 26,336,718	L186Q	probably damaging	Het
Mas1	A	G	17: 12,842,437	I33T	probably benign	Het
Med13l	A	G	5: 118,726,265	S389G	probably benign	Het
Nxph3	T	C	11: 95,511,066	N174S	possibly damaging	Het
Olfr365	T	A	2: 37,201,556	F105Y	possibly damaging	Het
Olfr965	G	C	9: 39,719,677	C150S	probably benign	Het
Pcdha5	A	G	18: 36,961,704	D422G	probably benign	Het
Pias4	A	C	10: 81,154,453	V416G	possibly damaging	Het
Pik3cg	T	A	12: 32,205,667	Y107F	probably damaging	Het
Plcg1	T	A	2: 160,748,283	W156R	possibly damaging	Het
Plcl2	A	G	17: 50,606,464	D167G	probably damaging	Het
Podxl	T	A	6: 31,524,733		probably null	Het
Ppp1r2	T	C	16: 31,254,718	D197G	probably benign	Het
Ptprs	C	G	17: 56,451,697	V175L	probably benign	Het
Rad17	A	T	13: 100,629,517	S368T	probably benign	Het
Rdh8	G	T	9: 20,825,327	R230L	probably benign	Het
Rpl35	A	C	2: 39,004,156	L58R	probably damaging	Het
S100pbp	G	A	4: 129,182,103	T143I	probably damaging	Het
Scarf1	A	G	11: 75,526,078	E782G	probably damaging	Het
Slc30a9	T	C	5: 67,326,862	V114A	probably benign	Het
Stpg2	G	A	3: 139,701,774		probably null	Het
Tdpoz1	T	C	3: 93,670,806	S224G	possibly damaging	Het
Triml2	T	A	8: 43,183,333	Y52N	probably benign	Het
Trpm2	A	T	10: 77,947,931	I236N	probably damaging	Het
Unc5c	A	G	3: 141,801,293	D602G	probably benign	Het
Upk1a	A	G	7: 30,609,811	S29P	probably damaging	Het
Vmn2r54	A	G	7: 12,616,074	L527P	probably damaging	Het
Vmn2r72	A	T	7: 85,749,803		probably null	Het
Vstm2l	G	T	2: 157,914,729		probably benign	Het
Vwf	G	T	6: 125,655,044	G1952V		Het
Zfand6	A	C	7: 84,615,869	I208S	probably damaging	Het
Zfp236	A	G	18: 82,620,337	I1386T	possibly damaging	Het

Other mutations in Rtp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Rtp3	APN	9	110986598	missense	probably benign	0.03
IGL02212:Rtp3	APN	9	110987321	splice site	probably benign
IGL03033:Rtp3	APN	9	110986094	unclassified	probably benign
R0392:Rtp3	UTSW	9	110989553	missense	probably damaging	0.98
R0529:Rtp3	UTSW	9	110987084	missense	possibly damaging	0.93
R0645:Rtp3	UTSW	9	110987100	missense	probably damaging	0.97
R1282:Rtp3	UTSW	9	110986920	missense	probably benign	0.01
R1609:Rtp3	UTSW	9	110986017	unclassified	probably benign
R1649:Rtp3	UTSW	9	110986704	missense	probably benign	0.00
R1662:Rtp3	UTSW	9	110986683	missense	probably benign	0.23
R2011:Rtp3	UTSW	9	110986034	unclassified	probably benign
R3697:Rtp3	UTSW	9	110987194	missense	possibly damaging	0.86
R4661:Rtp3	UTSW	9	110986451	splice site	probably null
R4707:Rtp3	UTSW	9	110986211	unclassified	probably benign
R4764:Rtp3	UTSW	9	110987350	intron	probably benign
R4796:Rtp3	UTSW	9	110986454	missense	probably benign	0.00
R4839:Rtp3	UTSW	9	110989476	missense	probably damaging	1.00
R5262:Rtp3	UTSW	9	110986127	unclassified	probably benign
R5886:Rtp3	UTSW	9	110987136	missense	probably damaging	1.00
R5932:Rtp3	UTSW	9	110986692	missense	probably benign	0.04
R6089:Rtp3	UTSW	9	110986973	missense	probably benign	0.00
R6545:Rtp3	UTSW	9	110986826	missense	possibly damaging	0.83
R6812:Rtp3	UTSW	9	110987112	missense	probably benign	0.14
R6895:Rtp3	UTSW	9	110987196	missense	possibly damaging	0.72
R7023:Rtp3	UTSW	9	110986646	missense	probably benign	0.00
R7167:Rtp3	UTSW	9	110986704	missense	probably benign	0.01
R7171:Rtp3	UTSW	9	110985941	missense	unknown
R7359:Rtp3	UTSW	9	110986296	missense	probably benign	0.33
R7721:Rtp3	UTSW	9	110985880	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGGCATCTGTACTTTAGAGGAG -3'
(R):5'- ACGGCCCTCCTCTAAAGTAC -3'

Sequencing Primer
(F):5'- TTGCTACAGGTGACAGTGACC -3'
(R):5'- GGCCCTCCTCTAAAGTACAGATG -3'

Posted On

2019-05-15