Mutagenetix > Incidental Mutation

Incidental Mutation 'R9600:Rtp3'

723683

Institutional Source

Beutler Lab

Gene Symbol

Rtp3

Ensembl Gene

ENSMUSG00000066319

Gene Name

receptor transporter protein 3

Synonyms

Tmem7

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9600 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110814003-110818781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110815198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 389 (Y389C)

Ref Sequence

ENSEMBL: ENSMUSP00000081985 (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

unknown
Transcript: ENSMUST00000084922
AA Change: Y389C

SMART Domains

Protein: ENSMUSP00000081985
Gene: ENSMUSG00000066319
AA Change: Y389C

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

unknown
Transcript: ENSMUST00000199891
AA Change: Y389C

SMART Domains

Protein: ENSMUSP00000143305
Gene: ENSMUSG00000066319
AA Change: Y389C

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	G	11: 80,261,197 (GRCm39)	V210A	probably damaging	Het
Abcc9	G	A	6: 142,536,102 (GRCm39)	A1544V	possibly damaging	Het
Akap6	A	G	12: 52,933,341 (GRCm39)	T278A	probably benign	Het
Arfgef1	T	A	1: 10,233,977 (GRCm39)	I1106F	probably benign	Het
Armc7	T	C	11: 115,367,038 (GRCm39)	L61S	probably damaging	Het
Atp1a3	G	A	7: 24,700,027 (GRCm39)	T111M	probably benign	Het
Bltp1	A	T	3: 37,095,565 (GRCm39)	K1103*	probably null	Het
Cacna2d4	T	A	6: 119,322,023 (GRCm39)	S962R	probably benign	Het
Camsap2	T	C	1: 136,204,936 (GRCm39)	T526A		Het
Casq2	A	T	3: 102,052,622 (GRCm39)	D378V	unknown	Het
Chst8	C	T	7: 34,374,646 (GRCm39)	D398N	possibly damaging	Het
Cmya5	C	T	13: 93,226,604 (GRCm39)	G2828D	probably damaging	Het
Cntnap2	T	A	6: 45,969,009 (GRCm39)	N250K	probably damaging	Het
Cpne5	T	C	17: 29,380,520 (GRCm39)	N401D	probably damaging	Het
Cse1l	A	G	2: 166,757,119 (GRCm39)	N7S	probably damaging	Het
Cyp4f39	G	A	17: 32,705,920 (GRCm39)	G337D	probably damaging	Het
Dera	C	T	6: 137,814,135 (GRCm39)	R308C	probably benign	Het
Drd5	T	A	5: 38,478,174 (GRCm39)	I389N	possibly damaging	Het
F830016B08Rik	A	G	18: 60,433,237 (GRCm39)	T107A	probably damaging	Het
Fbxw22	C	A	9: 109,212,986 (GRCm39)	L320F	probably damaging	Het
Fndc3b	G	T	3: 27,552,941 (GRCm39)	T352K	probably damaging	Het
Gm36864	T	A	7: 43,886,275 (GRCm39)	I169K	unknown	Het
Hdac4	A	T	1: 91,889,277 (GRCm39)	D749E	probably damaging	Het
Herc1	C	T	9: 66,304,594 (GRCm39)	A805V	possibly damaging	Het
Hrh1	A	G	6: 114,457,453 (GRCm39)	K245E	probably benign	Het
Khdc1a	A	G	1: 21,421,204 (GRCm39)	T130A	probably benign	Het
Lrp5	C	G	19: 3,641,712 (GRCm39)	A1417P	probably benign	Het
Macf1	T	C	4: 123,365,002 (GRCm39)	Q3253R	possibly damaging	Het
Mdn1	T	A	4: 32,684,723 (GRCm39)	L811*	probably null	Het
Mettl8	T	C	2: 70,812,383 (GRCm39)	D84G	possibly damaging	Het
Miga1	T	G	3: 151,993,186 (GRCm39)	T412P	probably benign	Het
Mtor	G	T	4: 148,632,092 (GRCm39)	R2322L	possibly damaging	Het
Muc16	T	C	9: 18,567,147 (GRCm39)	N1791D	unknown	Het
Myo9b	C	G	8: 71,743,075 (GRCm39)	S45R	possibly damaging	Het
Nup50l	A	T	6: 96,142,156 (GRCm39)	L296Q	possibly damaging	Het
Olfm4	T	C	14: 80,243,747 (GRCm39)	F105S	probably damaging	Het
Or5af2	A	T	11: 58,708,370 (GRCm39)	I179F	possibly damaging	Het
Osbpl1a	T	C	18: 13,015,277 (GRCm39)	I384V	probably benign	Het
Pcnx1	T	C	12: 82,030,435 (GRCm39)	L1131P		Het
Pex6	T	A	17: 47,035,322 (GRCm39)	V827E	probably damaging	Het
Plek	A	C	11: 16,940,119 (GRCm39)	S197A	probably benign	Het
Pmpca	T	C	2: 26,282,598 (GRCm39)	Y269H	probably benign	Het
Pop1	T	C	15: 34,512,881 (GRCm39)	I493T	probably benign	Het
Rap1gap2	T	C	11: 74,283,954 (GRCm39)	N615D	probably benign	Het
Rusf1	T	A	7: 127,875,676 (GRCm39)	D253V	possibly damaging	Het
Sardh	T	C	2: 27,120,513 (GRCm39)	Q423R	probably benign	Het
Slc11a1	T	C	1: 74,422,688 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,896,239 (GRCm39)	D572G	probably damaging	Het
Slco1a8	T	G	6: 141,949,234 (GRCm39)		probably null	Het
Slfn14	A	G	11: 83,170,048 (GRCm39)	V532A	probably benign	Het
Spmip10	T	C	18: 56,725,450 (GRCm39)	W37R	probably benign	Het
Stxbp1	T	C	2: 32,701,120 (GRCm39)	Y264C	possibly damaging	Het
Syce1l	T	C	8: 114,381,750 (GRCm39)	I230T	unknown	Het
Taf5l	T	C	8: 124,730,173 (GRCm39)	Y172C		Het
Trpc4	A	T	3: 54,102,248 (GRCm39)	K49*	probably null	Het
Ttc13	A	G	8: 125,415,284 (GRCm39)	V285A	probably benign	Het
Ttc17	A	T	2: 94,204,890 (GRCm39)	L344Q	probably damaging	Het
Unc79	A	G	12: 103,135,972 (GRCm39)	H2469R	probably benign	Het
Xkr7	A	G	2: 152,896,393 (GRCm39)	I416V	probably benign	Het
Zeb2	C	A	2: 44,987,180 (GRCm39)	D35Y	unknown	Het
Zfp28	A	G	7: 6,397,917 (GRCm39)	H784R	probably benign	Het
Zfp644	A	C	5: 106,783,909 (GRCm39)	S848R	probably benign	Het
Zfp809	G	A	9: 22,150,384 (GRCm39)	E294K	possibly damaging	Het
Zfp820	A	G	17: 22,038,861 (GRCm39)	Y156H	probably benign	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
R0529:Rtp3	UTSW	9	110,816,152 (GRCm39)	missense	possibly damaging	0.93
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
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'- TCACAGCATGAGTACCTGAAGATC -3'
(R):5'- TCAGTAGTAAGCCCACCTGC -3'

Sequencing Primer
(F):5'- GCATGAGTACCTGAAGATCTCACAC -3'
(R):5'- ATGTGTCATTCAAATGCCTTCTC -3'

Posted On

2022-09-12