Mutagenetix > Incidental Mutation

Incidental Mutation 'R0529:Rtp3'

49062

Institutional Source

Beutler Lab

Gene Symbol

Rtp3

Ensembl Gene

ENSMUSG00000066319

Gene Name

receptor transporter protein 3

Synonyms

Tmem7

MMRRC Submission

038721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R0529 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110814003-110818781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110816152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 133 (E133G)

Ref Sequence

ENSEMBL: ENSMUSP00000143305 (fasta)

Gene Model

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

AlphaFold

Q5QGU6

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

possibly damaging
Transcript: ENSMUST00000084922
AA Change: E133G

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081985
Gene: ENSMUSG00000066319
AA Change: E133G

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

noncoding transcript
Transcript: ENSMUST00000185439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197321

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

possibly damaging
Transcript: ENSMUST00000199891
AA Change: E133G

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143305
Gene: ENSMUSG00000066319
AA Change: E133G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,211,228 (GRCm39)	V126I	probably benign	Het
Aasdh	A	C	5: 77,024,114 (GRCm39)	Y179*	probably null	Het
Afp	A	G	5: 90,652,254 (GRCm39)	Y415C	probably damaging	Het
Aldh5a1	G	T	13: 25,097,856 (GRCm39)	T393K	probably benign	Het
Arhgef26	T	C	3: 62,247,146 (GRCm39)	S77P	probably benign	Het
Axl	A	G	7: 25,486,712 (GRCm39)		probably benign	Het
Card10	A	G	15: 78,664,675 (GRCm39)		probably null	Het
Ccdc71l	G	A	12: 32,429,251 (GRCm39)	S90N	probably damaging	Het
Cebpa	A	T	7: 34,819,624 (GRCm39)	T261S	probably benign	Het
Cnmd	T	C	14: 79,879,481 (GRCm39)	E219G	probably benign	Het
Cntln	T	A	4: 84,986,062 (GRCm39)	L1010H	probably damaging	Het
Cul9	A	G	17: 46,831,394 (GRCm39)		probably benign	Het
Cyld	A	G	8: 89,456,387 (GRCm39)	E479G	probably benign	Het
Dmp1	A	G	5: 104,360,092 (GRCm39)	E256G	probably benign	Het
Dnmt1	T	C	9: 20,822,846 (GRCm39)	D1140G	probably damaging	Het
Drd2	A	C	9: 49,318,374 (GRCm39)	M439L	probably benign	Het
Drd3	G	A	16: 43,643,077 (GRCm39)	V438M	probably damaging	Het
Dyrk3	A	G	1: 131,057,858 (GRCm39)	I70T	probably benign	Het
Fbxo38	T	C	18: 62,639,057 (GRCm39)	K1082E	probably damaging	Het
Fbxw10	A	C	11: 62,750,671 (GRCm39)	D428A	probably damaging	Het
Fmn1	T	A	2: 113,538,198 (GRCm39)		probably benign	Het
Fmnl2	A	T	2: 52,932,377 (GRCm39)	I119F	probably damaging	Het
Frmd4a	A	G	2: 4,610,834 (GRCm39)	T995A	probably damaging	Het
Gda	T	A	19: 21,402,901 (GRCm39)	I82F	probably damaging	Het
Gpatch4	T	A	3: 87,958,583 (GRCm39)	H22Q	probably damaging	Het
Gpr55	A	G	1: 85,869,225 (GRCm39)	F119L	probably benign	Het
Gtf2i	A	T	5: 134,290,723 (GRCm39)	L425*	probably null	Het
Knstrn	T	A	2: 118,661,461 (GRCm39)		probably benign	Het
Lipo2	T	A	19: 33,724,335 (GRCm39)	I144L	probably benign	Het
Lrp1	T	C	10: 127,377,463 (GRCm39)		probably null	Het
Mtmr14	T	C	6: 113,243,213 (GRCm39)		probably benign	Het
Nsmce4a	A	T	7: 130,135,536 (GRCm39)	S345R	probably benign	Het
Oacyl	T	A	18: 65,875,290 (GRCm39)	V385D	probably damaging	Het
Or6k8-ps1	G	A	1: 173,979,696 (GRCm39)	A205T	probably benign	Het
Or8b52	A	T	9: 38,576,808 (GRCm39)	C111S	probably benign	Het
Phlpp2	T	C	8: 110,603,603 (GRCm39)	S55P	probably benign	Het
Pkhd1l1	T	A	15: 44,390,150 (GRCm39)	V1422E	possibly damaging	Het
Plcd3	T	G	11: 102,971,013 (GRCm39)	H181P	probably benign	Het
Psmc5	G	A	11: 106,151,990 (GRCm39)		probably null	Het
Psmd11	T	C	11: 80,361,515 (GRCm39)		probably benign	Het
Rab39	T	C	9: 53,598,016 (GRCm39)	Y83C	probably damaging	Het
Ric8a	A	G	7: 140,440,806 (GRCm39)	E93G	probably damaging	Het
Serpina1e	A	C	12: 103,915,363 (GRCm39)	L281R	probably damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Tent5c	A	G	3: 100,379,686 (GRCm39)	Y357H	probably benign	Het
Tmem63a	A	T	1: 180,788,659 (GRCm39)	E332V	probably benign	Het
Tnk1	T	C	11: 69,745,990 (GRCm39)	T312A	probably damaging	Het
Traf3ip3	G	T	1: 192,877,119 (GRCm39)		probably benign	Het
Trappc11	A	G	8: 47,980,014 (GRCm39)	V174A	possibly damaging	Het
Vmn1r174	G	A	7: 23,453,622 (GRCm39)	R96H	probably benign	Het
Vmn1r7	T	A	6: 57,001,450 (GRCm39)	Y270F	possibly damaging	Het
Vmn2r12	A	G	5: 109,240,714 (GRCm39)	V133A	probably benign	Het
Vmn2r18	T	A	5: 151,485,988 (GRCm39)	E502V	probably damaging	Het
Wipf3	C	A	6: 54,462,348 (GRCm39)	P186Q	probably damaging	Het
Yipf5	A	T	18: 40,345,215 (GRCm39)	M55K	probably benign	Het
Zbtb7a	G	A	10: 80,979,820 (GRCm39)	V5M	probably damaging	Het
Zfy1	G	T	Y: 726,040 (GRCm39)	S575Y	probably damaging	Het

Other mutations in Rtp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Rtp3	APN	9	110,815,666 (GRCm39)	missense	probably benign	0.03
IGL02212:Rtp3	APN	9	110,816,389 (GRCm39)	splice site	probably benign
IGL03033:Rtp3	APN	9	110,815,162 (GRCm39)	unclassified	probably benign
R0392:Rtp3	UTSW	9	110,818,621 (GRCm39)	missense	probably damaging	0.98
R0645:Rtp3	UTSW	9	110,816,168 (GRCm39)	missense	probably damaging	0.97
R1282:Rtp3	UTSW	9	110,815,988 (GRCm39)	missense	probably benign	0.01
R1609:Rtp3	UTSW	9	110,815,085 (GRCm39)	unclassified	probably benign
R1649:Rtp3	UTSW	9	110,815,772 (GRCm39)	missense	probably benign	0.00
R1662:Rtp3	UTSW	9	110,815,751 (GRCm39)	missense	probably benign	0.23
R2011:Rtp3	UTSW	9	110,815,102 (GRCm39)	unclassified	probably benign
R3697:Rtp3	UTSW	9	110,816,262 (GRCm39)	missense	possibly damaging	0.86
R4661:Rtp3	UTSW	9	110,815,519 (GRCm39)	splice site	probably null
R4707:Rtp3	UTSW	9	110,815,279 (GRCm39)	unclassified	probably benign
R4764:Rtp3	UTSW	9	110,816,418 (GRCm39)	intron	probably benign
R4796:Rtp3	UTSW	9	110,815,522 (GRCm39)	missense	probably benign	0.00
R4839:Rtp3	UTSW	9	110,818,544 (GRCm39)	missense	probably damaging	1.00
R5262:Rtp3	UTSW	9	110,815,195 (GRCm39)	unclassified	probably benign
R5886:Rtp3	UTSW	9	110,816,204 (GRCm39)	missense	probably damaging	1.00
R5932:Rtp3	UTSW	9	110,815,760 (GRCm39)	missense	probably benign	0.04
R6089:Rtp3	UTSW	9	110,816,041 (GRCm39)	missense	probably benign	0.00
R6545:Rtp3	UTSW	9	110,815,894 (GRCm39)	missense	possibly damaging	0.83
R6812:Rtp3	UTSW	9	110,816,180 (GRCm39)	missense	probably benign	0.14
R6895:Rtp3	UTSW	9	110,816,264 (GRCm39)	missense	possibly damaging	0.72
R7023:Rtp3	UTSW	9	110,815,714 (GRCm39)	missense	probably benign	0.00
R7113:Rtp3	UTSW	9	110,815,767 (GRCm39)	missense	probably damaging	0.98
R7167:Rtp3	UTSW	9	110,815,772 (GRCm39)	missense	probably benign	0.01
R7171:Rtp3	UTSW	9	110,815,009 (GRCm39)	missense	unknown
R7359:Rtp3	UTSW	9	110,815,364 (GRCm39)	missense	probably benign	0.33
R7721:Rtp3	UTSW	9	110,814,948 (GRCm39)	nonsense	probably null
R9402:Rtp3	UTSW	9	110,815,031 (GRCm39)	missense	unknown
R9600:Rtp3	UTSW	9	110,815,198 (GRCm39)	missense	unknown
R9623:Rtp3	UTSW	9	110,818,600 (GRCm39)	missense	probably damaging	1.00
R9648:Rtp3	UTSW	9	110,815,586 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCGTGAGGAGGAAATGTTGCTAC -3'
(R):5'- TGCTCTCGAAGTTGGGCATCTG -3'

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

Posted On

2013-06-12