Mutagenetix > Incidental Mutation

Incidental Mutation 'R9402:Rtp3'

711298

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: 0.058) question?

Stock #

R9402 (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 G at 110985963 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 445 (C445R)

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: C445R

SMART Domains

Protein: ENSMUSP00000081985
Gene: ENSMUSG00000066319
AA Change: C445R

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: C445R

SMART Domains

Protein: ENSMUSP00000143305
Gene: ENSMUSG00000066319
AA Change: C445R

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: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	G	1: 136,227,610	S86R	probably benign	Het
Abca9	T	A	11: 110,158,328	Q218L	probably benign	Het
Atg2b	A	G	12: 105,648,423	F1083S	probably damaging	Het
Bche	T	C	3: 73,701,323	N257D	probably benign	Het
Cfap221	T	A	1: 119,932,821	M692L	probably benign	Het
Cfap46	G	T	7: 139,635,949	P1530Q	unknown	Het
Crim1	CCGC	CC	17: 78,350,865		probably null	Het
Cyp4f39	T	C	17: 32,491,209		probably null	Het
Daam1	A	G	12: 71,959,830	T674A	probably benign	Het
Elp2	A	T	18: 24,626,163	I526L	probably benign	Het
Exoc4	T	A	6: 33,476,143	*523K	probably null	Het
Fbxl7	G	A	15: 26,552,503	S226L	probably damaging	Het
Fry	G	A	5: 150,433,696	E1903K	possibly damaging	Het
Fry	G	A	5: 150,436,853	R1988K	probably damaging	Het
Gas1	A	T	13: 60,176,202	M206K	probably damaging	Het
Gbp10	T	A	5: 105,233,997	T96S	possibly damaging	Het
Gm14569	G	A	X: 36,430,896	P1387S	probably damaging	Het
Gpaa1	A	G	15: 76,332,218	T105A	probably benign	Het
Hoxc13	C	A	15: 102,921,616	C143*	probably null	Het
Htt	T	C	5: 34,848,980	I1411T	probably damaging	Het
Jmy	C	T	13: 93,499,170	C46Y	probably damaging	Het
Klhl40	A	G	9: 121,780,416	Y453C	possibly damaging	Het
Krit1	T	A	5: 3,822,210	Y460N	possibly damaging	Het
Lamb3	C	A	1: 193,331,396	T526K		Het
Lrrc29	T	A	8: 105,323,356	Y12F	probably benign	Het
Luzp1	T	A	4: 136,543,182	H905Q	probably damaging	Het
Lyst	T	A	13: 13,637,878	H958Q	probably benign	Het
Magi1	T	C	6: 94,283,297	N9S	probably benign	Het
Mmadhc	A	T	2: 50,281,107	V231E	probably benign	Het
Muc5b	T	A	7: 141,845,414	M364K	unknown	Het
Nae1	A	G	8: 104,528,185		probably null	Het
Ndst4	C	T	3: 125,724,736	S354L	probably benign	Het
Nlgn2	A	G	11: 69,828,107	F252S		Het
Nlrp9a	A	T	7: 26,570,605	N874I	possibly damaging	Het
Nodal	T	C	10: 61,423,600	I272T	probably damaging	Het
Olfr1234	C	A	2: 89,362,779	G217*	probably null	Het
Olfr1259	A	T	2: 89,943,940	Y58*	probably null	Het
Olfr599	T	C	7: 103,338,989	S312P	probably benign	Het
Olfr645	G	A	7: 104,084,403	R226*	probably null	Het
Orm1	C	A	4: 63,345,132	Q61K	possibly damaging	Het
Pcdh17	T	C	14: 84,447,206	V371A	probably damaging	Het
Pcdhb19	C	T	18: 37,499,479	Q776*	probably null	Het
Phf14	A	G	6: 11,933,780	R214G	possibly damaging	Het
Phf3	G	A	1: 30,811,847	T1142M	probably damaging	Het
Pigz	A	G	16: 31,945,369	E415G	probably damaging	Het
Pramel5	T	C	4: 144,271,456	T406A	probably benign	Het
Prtg	A	G	9: 72,911,971	E1082G	probably benign	Het
Scn3b	A	T	9: 40,282,556	E193V	probably damaging	Het
Scn7a	A	T	2: 66,680,112	N1315K	probably damaging	Het
Snx14	C	T	9: 88,407,437	G254D	probably damaging	Het
Srbd1	T	C	17: 86,099,277	D560G	probably benign	Het
Srp72	T	A	5: 76,976,482	L65*	probably null	Het
Steap1	T	A	5: 5,740,664	I95F		Het
Taf3	A	G	2: 9,951,112		probably null	Het
Taok2	T	C	7: 126,870,228	N1143D		Het
Tas2r114	C	T	6: 131,689,931	G45S	possibly damaging	Het
Tcerg1l	T	C	7: 138,209,822	K548E	probably damaging	Het
Tcp1	T	A	17: 12,922,618	L328Q	probably benign	Het
Tns2	A	G	15: 102,113,188	H1096R	probably damaging	Het
Trps1	A	T	15: 50,846,256	Y233N	probably damaging	Het
Tubgcp6	A	G	15: 89,102,861	V1303A	probably benign	Het
Ugt1a2	T	C	1: 88,200,962	F109S	possibly damaging	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Zfp748	A	G	13: 67,545,392	V54A	probably benign	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
R7113:Rtp3	UTSW	9	110986699	missense	probably damaging	0.98
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
R9600:Rtp3	UTSW	9	110986130	missense	unknown
R9623:Rtp3	UTSW	9	110989532	missense	probably damaging	1.00
R9648:Rtp3	UTSW	9	110986518	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGGGATTACGCAATGTGTG -3'
(R):5'- AAGGCATTGCTCTCATCCCC -3'

Sequencing Primer
(F):5'- ACGCAATGTGTGACTTTTTGG -3'
(R):5'- AGGCATTGCTCTCATCCCCTTTATAC -3'

Posted On

2022-05-16