Mutagenetix > Incidental Mutation

Incidental Mutation 'R8743:Rtp4'

663379

Institutional Source

Beutler Lab

Gene Symbol

Rtp4

Ensembl Gene

ENSMUSG00000033355

Gene Name

receptor transporter protein 4

Synonyms

5830458K16Rik

MMRRC Submission

068588-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R8743 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23339041-23432972 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 23431866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 133 (K133Q)

Ref Sequence

ENSEMBL: ENSMUSP00000041091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038423] [ENSMUST00000209422] [ENSMUST00000210901] [ENSMUST00000211349] [ENSMUST00000211569]

AlphaFold

Q9ER80

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038423
AA Change: K133Q

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041091
Gene: ENSMUSG00000033355
AA Change: K133Q

Domain	Start	End	E-Value	Type
zf-3CxxC	50	163	8.52e-52	SMART
low complexity region	175	197	N/A	INTRINSIC
transmembrane domain	231	248	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209422
AA Change: K133Q

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210901
AA Change: K133Q

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

silent
Transcript: ENSMUST00000211349

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211569
AA Change: K133Q

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,276,264 (GRCm39)	C468S	probably damaging	Het
Adamts7	G	A	9: 90,077,296 (GRCm39)	R1321H	probably damaging	Het
Adra2c	T	C	5: 35,437,792 (GRCm39)	V188A	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ap1g1	A	G	8: 110,564,423 (GRCm39)	N323D	probably damaging	Het
Arhgap15	A	T	2: 43,638,876 (GRCm39)		probably benign	Het
Arhgef33	T	C	17: 80,667,882 (GRCm39)		probably null	Het
Armc1	C	T	3: 19,211,700 (GRCm39)	C40Y	probably benign	Het
Arsk	C	A	13: 76,214,928 (GRCm39)	V309F	probably damaging	Het
Atp4b	A	T	8: 13,443,489 (GRCm39)	M63K	probably damaging	Het
Cacna1s	T	C	1: 136,033,286 (GRCm39)	L1237P	probably damaging	Het
Ccnt2	A	G	1: 127,702,020 (GRCm39)	E19G	probably damaging	Het
Ccr2	A	C	9: 123,906,131 (GRCm39)	Y137S	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Cfh	A	T	1: 140,046,323 (GRCm39)		probably null	Het
Chd5	T	A	4: 152,450,862 (GRCm39)	V662E	probably benign	Het
Cnga4	A	G	7: 105,057,220 (GRCm39)	D544G	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Coro6	T	A	11: 77,357,265 (GRCm39)	I158N	probably damaging	Het
Cpa1	A	G	6: 30,642,992 (GRCm39)	S307G	probably damaging	Het
Depdc5	T	A	5: 33,081,587 (GRCm39)	M583K	probably benign	Het
Dock2	G	T	11: 34,223,252 (GRCm39)	S1170*	probably null	Het
Dusp16	A	T	6: 134,694,933 (GRCm39)	S633T	probably benign	Het
Esco1	T	C	18: 10,572,123 (GRCm39)	E739G	probably damaging	Het
Fam193a	T	A	5: 34,577,501 (GRCm39)		probably null	Het
Fat4	G	A	3: 38,942,592 (GRCm39)	S495N	probably benign	Het
Galnt10	A	G	11: 57,675,409 (GRCm39)	Y556C	probably damaging	Het
Garin5b	T	A	7: 4,760,814 (GRCm39)	T633S		Het
Gc	A	T	5: 89,591,311 (GRCm39)	D142E	probably benign	Het
Gda	A	T	19: 21,377,952 (GRCm39)	F369Y	probably damaging	Het
Glce	A	T	9: 61,968,103 (GRCm39)	S349R	probably benign	Het
Glp2r	A	G	11: 67,612,901 (GRCm39)	L351P	probably damaging	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Gxylt2	A	T	6: 100,764,284 (GRCm39)	Y323F	probably benign	Het
Hmmr	T	C	11: 40,598,858 (GRCm39)	N589D	probably damaging	Het
Hsd17b3	A	C	13: 64,210,712 (GRCm39)	D214E	probably benign	Het
Kat6a	A	G	8: 23,429,022 (GRCm39)	D1459G	possibly damaging	Het
Lad1	G	A	1: 135,758,933 (GRCm39)	R465H	probably benign	Het
Lcmt1	T	A	7: 122,999,691 (GRCm39)	D46E	probably damaging	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Mylk	G	T	16: 34,741,427 (GRCm39)	R796L	probably benign	Het
Nat8l	T	A	5: 34,154,510 (GRCm39)	L108Q	probably damaging	Het
Nlrp5	T	C	7: 23,118,172 (GRCm39)	V632A	probably benign	Het
Nr3c2	A	G	8: 77,636,387 (GRCm39)	E496G	probably damaging	Het
Nucb2	A	G	7: 116,128,065 (GRCm39)	D258G	probably damaging	Het
Or8b12	G	T	9: 37,658,174 (GRCm39)	C248F	probably benign	Het
Or8b56	A	T	9: 38,738,995 (GRCm39)	I3F	probably benign	Het
Papln	A	G	12: 83,829,764 (GRCm39)	K962E	probably damaging	Het
Pcdha8	T	A	18: 37,127,372 (GRCm39)	M618K	probably benign	Het
Pclo	A	G	5: 14,764,580 (GRCm39)	D1066G		Het
Phip	A	T	9: 82,809,140 (GRCm39)	M446K	probably benign	Het
Pkn3	A	G	2: 29,973,318 (GRCm39)	K380R	probably benign	Het
Potefam1	T	C	2: 111,000,017 (GRCm39)	T198A	unknown	Het
Ppa1	C	A	10: 61,496,758 (GRCm39)	A82E	possibly damaging	Het
Prune2	A	C	19: 17,096,920 (GRCm39)	D808A	probably benign	Het
Psme4	T	G	11: 30,828,467 (GRCm39)	L1829R	probably damaging	Het
Scaf11	C	T	15: 96,313,669 (GRCm39)	A1371T	probably benign	Het
Serpinb9g	A	T	13: 33,678,931 (GRCm39)	H267L	probably benign	Het
Slc47a2	T	G	11: 61,233,588 (GRCm39)	D6A	probably benign	Het
Slco1a4	A	T	6: 141,765,255 (GRCm39)	V329D	possibly damaging	Het
Smg6	T	C	11: 74,820,859 (GRCm39)	S377P	probably benign	Het
Spata31g1	A	G	4: 42,971,030 (GRCm39)	H121R	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Taar2	A	T	10: 23,817,369 (GRCm39)	Y303F	probably damaging	Het
Tgm6	A	G	2: 129,985,418 (GRCm39)	D407G	probably damaging	Het
Twf2	A	G	9: 106,090,010 (GRCm39)	E153G	possibly damaging	Het
Upb1	A	G	10: 75,275,710 (GRCm39)	Y365C	probably damaging	Het
Vmn2r4	A	T	3: 64,317,247 (GRCm39)	S164T	possibly damaging	Het
Wtip	C	T	7: 33,824,979 (GRCm39)	G202R	possibly damaging	Het
Zfhx4	G	A	3: 5,309,084 (GRCm39)	C770Y	probably damaging	Het

Other mutations in Rtp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01606:Rtp4	APN	16	23,432,004 (GRCm39)	missense	probably benign	0.18
IGL02942:Rtp4	APN	16	23,431,704 (GRCm39)	missense	probably benign	0.01
PIT4696001:Rtp4	UTSW	16	23,432,204 (GRCm39)	missense	probably benign	0.23
R0049:Rtp4	UTSW	16	23,431,679 (GRCm39)	missense	probably benign	0.04
R0049:Rtp4	UTSW	16	23,431,679 (GRCm39)	missense	probably benign	0.04
R1694:Rtp4	UTSW	16	23,431,870 (GRCm39)	makesense	probably null
R2060:Rtp4	UTSW	16	23,431,690 (GRCm39)	missense	probably damaging	1.00
R2088:Rtp4	UTSW	16	23,431,963 (GRCm39)	missense	possibly damaging	0.86
R4232:Rtp4	UTSW	16	23,431,833 (GRCm39)	missense	possibly damaging	0.58
R4493:Rtp4	UTSW	16	23,428,827 (GRCm39)	missense	probably benign	0.23
R4646:Rtp4	UTSW	16	23,428,790 (GRCm39)	missense	probably benign	0.20
R8315:Rtp4	UTSW	16	23,431,998 (GRCm39)	missense	possibly damaging	0.93
R8399:Rtp4	UTSW	16	23,339,164 (GRCm39)	intron	probably benign
R8470:Rtp4	UTSW	16	23,428,827 (GRCm39)	missense	probably benign	0.23
R9444:Rtp4	UTSW	16	23,431,836 (GRCm39)	missense	probably benign	0.18
R9607:Rtp4	UTSW	16	23,339,226 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGCTGCAGAAGTTGGACC -3'
(R):5'- AGCTCTTTGATGGGGAGGAAC -3'

Sequencing Primer
(F):5'- AGAAGTTGGACCTCTGCTCAG -3'
(R):5'- ACTCTTTGGTAATGGAGATGGAGATC -3'

Posted On

2021-03-08