Mutagenetix > Incidental Mutation

Incidental Mutation 'R1481:Ripor3'

164352

Institutional Source

Beutler Lab

Gene Symbol

Ripor3

Ensembl Gene

ENSMUSG00000074577

Gene Name

RIPOR family member 3

Synonyms

2310033K02Rik, Fam65c

MMRRC Submission

039534-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

167980164-168010618 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 168000377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 61 (R61S)

Ref Sequence

ENSEMBL: ENSMUSP00000096672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099073]

AlphaFold

A1L3T7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099073
AA Change: R61S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096672
Gene: ENSMUSG00000074577
AA Change: R61S

Domain	Start	End	E-Value	Type
Pfam:PL48	19	363	3.5e-169	PFAM
low complexity region	414	423	N/A	INTRINSIC
low complexity region	445	455	N/A	INTRINSIC
low complexity region	496	513	N/A	INTRINSIC
low complexity region	582	602	N/A	INTRINSIC
SCOP:d1gw5a_	794	909	6e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123782

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,008,434 (GRCm38)	V3365A	probably damaging	Het
Arhgef5	A	G	6: 43,274,634 (GRCm38)	H773R	probably damaging	Het
Bmp3	G	A	5: 98,872,470 (GRCm38)	V251M	probably damaging	Het
Ccdc175	C	A	12: 72,101,948 (GRCm38)		probably benign	Het
Ccdc178	C	T	18: 22,105,621 (GRCm38)	G313D	probably benign	Het
Cd300ld2	T	A	11: 115,012,633 (GRCm38)	I129F	probably benign	Het
Cep170	T	C	1: 176,782,385 (GRCm38)	Q120R	possibly damaging	Het
Ckb	T	C	12: 111,671,262 (GRCm38)	H145R	probably benign	Het
Cntnap5a	T	A	1: 116,117,663 (GRCm38)	N336K	probably damaging	Het
Coil	T	A	11: 88,974,060 (GRCm38)	C38S	possibly damaging	Het
Cps1	T	C	1: 67,143,882 (GRCm38)	V133A	probably damaging	Het
Cspg4	A	G	9: 56,887,810 (GRCm38)	E943G	probably damaging	Het
Cyp2c54	C	T	19: 40,047,588 (GRCm38)	D293N	probably benign	Het
Cyp2f2	T	C	7: 27,121,877 (GRCm38)	S72P	probably benign	Het
Dip2c	G	A	13: 9,551,866 (GRCm38)		probably null	Het
Dock6	T	C	9: 21,820,622 (GRCm38)	T1158A	probably benign	Het
Dscaml1	G	A	9: 45,672,643 (GRCm38)	V469I	probably benign	Het
Efcab14	A	G	4: 115,756,517 (GRCm38)	T221A	probably benign	Het
Ehbp1	T	C	11: 22,006,782 (GRCm38)	*1207W	probably null	Het
Eln	T	C	5: 134,706,572 (GRCm38)	K786E	probably damaging	Het
Fyb	C	T	15: 6,619,647 (GRCm38)	P385S	probably benign	Het
Galr1	A	G	18: 82,405,741 (GRCm38)	I137T	possibly damaging	Het
Gcm1	A	T	9: 78,059,717 (GRCm38)	K73*	probably null	Het
Gemin5	T	C	11: 58,141,654 (GRCm38)	N775D	probably damaging	Het
Gli3	C	T	13: 15,613,850 (GRCm38)	H147Y	probably damaging	Het
Gm10754	G	T	10: 97,682,227 (GRCm38)		probably benign	Het
Gpr37	T	C	6: 25,669,138 (GRCm38)	D569G	probably damaging	Het
Grina	T	A	15: 76,249,089 (GRCm38)	Y286N	probably damaging	Het
Gtf3c1	C	A	7: 125,693,138 (GRCm38)		probably null	Het
Kcnc4	C	T	3: 107,448,218 (GRCm38)	V305M	probably benign	Het
Kntc1	T	C	5: 123,778,275 (GRCm38)	F724L	probably benign	Het
Kpnb1	T	C	11: 97,178,310 (GRCm38)	Y249C	probably damaging	Het
Krt6b	T	C	15: 101,678,374 (GRCm38)	T269A	probably benign	Het
Lamc1	T	C	1: 153,221,634 (GRCm38)	K1555E	probably damaging	Het
Maneal	T	C	4: 124,861,857 (GRCm38)	Y104C	probably damaging	Het
Map1b	T	C	13: 99,431,171 (GRCm38)	T1681A	unknown	Het
Mettl17	T	C	14: 51,890,703 (GRCm38)	L272P	probably benign	Het
Mib2	T	A	4: 155,656,999 (GRCm38)	S357C	probably benign	Het
Mmp19	C	A	10: 128,798,178 (GRCm38)	T316K	possibly damaging	Het
Mroh9	C	T	1: 163,026,509 (GRCm38)	G774E	probably damaging	Het
Myh1	T	C	11: 67,205,499 (GRCm38)		probably benign	Het
Ncor2	C	A	5: 125,027,138 (GRCm38)	E963*	probably null	Het
Nol6	T	A	4: 41,123,596 (GRCm38)	T51S	probably benign	Het
Nsun3	A	T	16: 62,735,369 (GRCm38)	C265S	probably damaging	Het
Nup214	C	T	2: 32,034,466 (GRCm38)	S1669F	probably damaging	Het
Nutm2	T	A	13: 50,469,481 (GRCm38)	N71K	probably damaging	Het
Olfr498	C	T	7: 108,465,960 (GRCm38)	T212I	probably benign	Het
Olfr713	T	G	7: 107,036,149 (GRCm38)	L5R	probably benign	Het
Orc3	T	A	4: 34,607,228 (GRCm38)	E34V	possibly damaging	Het
Pcdhb13	T	A	18: 37,442,836 (GRCm38)	L89Q	probably damaging	Het
Polr3a	A	T	14: 24,452,548 (GRCm38)	V1241E	probably null	Het
Prpf39	C	T	12: 65,053,314 (GRCm38)	P135S	probably damaging	Het
Psrc1	T	C	3: 108,384,993 (GRCm38)	V34A	probably benign	Het
Rab27a	G	A	9: 73,082,402 (GRCm38)	V52M	probably benign	Het
Rassf9	A	G	10: 102,546,034 (GRCm38)	T424A	probably benign	Het
Ryr3	C	T	2: 112,636,522 (GRCm38)		probably benign	Het
Samd4b	C	T	7: 28,414,010 (GRCm38)	G177R	probably damaging	Het
Setbp1	C	T	18: 78,783,301 (GRCm38)	V1366M	probably benign	Het
Smad1	G	A	8: 79,343,730 (GRCm38)	A393V	probably benign	Het
Tctn2	T	C	5: 124,607,763 (GRCm38)		noncoding transcript	Het
Tmem45a	A	T	16: 56,811,602 (GRCm38)	F218I	possibly damaging	Het
Tpte	A	T	8: 22,355,471 (GRCm38)	R512S	probably damaging	Het
Trim37	T	A	11: 87,129,759 (GRCm38)	L22*	probably null	Het
Ttc6	A	G	12: 57,737,130 (GRCm38)	N1792D	probably damaging	Het
Ttn	A	G	2: 76,945,616 (GRCm38)	M1694T	probably damaging	Het
Vmn1r181	T	A	7: 23,984,712 (GRCm38)	W201R	probably damaging	Het
Wdr74	C	T	19: 8,738,228 (GRCm38)	L198F	possibly damaging	Het
Zfp560	T	C	9: 20,348,790 (GRCm38)	T259A	probably benign	Het

Other mutations in Ripor3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Ripor3	APN	2	167,993,575 (GRCm38)	missense	probably benign	0.05
IGL01621:Ripor3	APN	2	167,997,252 (GRCm38)	missense	probably damaging	0.97
IGL01819:Ripor3	APN	2	167,980,843 (GRCm38)	missense	probably damaging	0.99
IGL01891:Ripor3	APN	2	167,983,151 (GRCm38)	missense	possibly damaging	0.95
IGL02110:Ripor3	APN	2	167,994,706 (GRCm38)	missense	possibly damaging	0.95
IGL02270:Ripor3	APN	2	167,993,496 (GRCm38)	missense	probably damaging	0.97
IGL02403:Ripor3	APN	2	167,989,330 (GRCm38)	missense	probably damaging	1.00
IGL02445:Ripor3	APN	2	167,992,762 (GRCm38)	splice site	probably benign
IGL02447:Ripor3	APN	2	167,992,830 (GRCm38)	missense	probably damaging	0.99
IGL02711:Ripor3	APN	2	168,006,280 (GRCm38)	utr 5 prime	probably benign
IGL03187:Ripor3	APN	2	167,985,668 (GRCm38)	missense	possibly damaging	0.64
IGL03304:Ripor3	APN	2	167,980,928 (GRCm38)	splice site	probably benign
R0062:Ripor3	UTSW	2	167,984,438 (GRCm38)	splice site	probably benign
R0062:Ripor3	UTSW	2	167,984,438 (GRCm38)	splice site	probably benign
R0233:Ripor3	UTSW	2	167,992,598 (GRCm38)	missense	probably damaging	1.00
R0233:Ripor3	UTSW	2	167,992,598 (GRCm38)	missense	probably damaging	1.00
R0387:Ripor3	UTSW	2	167,983,772 (GRCm38)	nonsense	probably null
R1457:Ripor3	UTSW	2	167,992,653 (GRCm38)	missense	probably damaging	1.00
R1619:Ripor3	UTSW	2	167,980,845 (GRCm38)	missense	probably damaging	0.96
R2358:Ripor3	UTSW	2	167,983,865 (GRCm38)	splice site	probably benign
R2431:Ripor3	UTSW	2	167,989,795 (GRCm38)	missense	probably benign	0.06
R2943:Ripor3	UTSW	2	167,983,761 (GRCm38)	missense	possibly damaging	0.46
R3000:Ripor3	UTSW	2	167,991,180 (GRCm38)	missense	probably damaging	1.00
R3730:Ripor3	UTSW	2	167,992,819 (GRCm38)	missense	probably damaging	1.00
R3731:Ripor3	UTSW	2	167,992,819 (GRCm38)	missense	probably damaging	1.00
R4084:Ripor3	UTSW	2	167,984,466 (GRCm38)	missense	possibly damaging	0.55
R4796:Ripor3	UTSW	2	167,981,340 (GRCm38)	missense	probably damaging	0.97
R4854:Ripor3	UTSW	2	167,992,813 (GRCm38)	missense	probably benign	0.05
R4934:Ripor3	UTSW	2	167,982,816 (GRCm38)	missense	probably benign
R4968:Ripor3	UTSW	2	167,985,117 (GRCm38)	missense	probably benign	0.41
R5662:Ripor3	UTSW	2	167,993,556 (GRCm38)	missense	probably benign	0.01
R5739:Ripor3	UTSW	2	167,981,283 (GRCm38)	missense	probably damaging	1.00
R5888:Ripor3	UTSW	2	167,997,287 (GRCm38)	missense	probably damaging	1.00
R6844:Ripor3	UTSW	2	167,993,333 (GRCm38)	splice site	probably null
R6969:Ripor3	UTSW	2	167,985,737 (GRCm38)	missense	probably benign	0.01
R6994:Ripor3	UTSW	2	167,997,266 (GRCm38)	missense	probably damaging	0.99
R7609:Ripor3	UTSW	2	167,984,570 (GRCm38)	missense	possibly damaging	0.86
R7818:Ripor3	UTSW	2	167,989,426 (GRCm38)	missense	probably benign	0.09
R8175:Ripor3	UTSW	2	167,983,759 (GRCm38)	missense	probably benign	0.00
R8329:Ripor3	UTSW	2	167,983,199 (GRCm38)	missense	possibly damaging	0.89
R9120:Ripor3	UTSW	2	167,980,915 (GRCm38)	missense	possibly damaging	0.79
R9130:Ripor3	UTSW	2	167,981,347 (GRCm38)	nonsense	probably null
R9408:Ripor3	UTSW	2	167,989,318 (GRCm38)	missense	probably benign	0.09
R9550:Ripor3	UTSW	2	167,980,887 (GRCm38)	missense	probably benign	0.23
R9660:Ripor3	UTSW	2	167,989,726 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACCATGAGACCAGAGACTGTCTACC -3'
(R):5'- ATGGATGCTGCTTTGCCTGCAC -3'

Sequencing Primer
(F):5'- AGAGACTGTCTACCTGCCTC -3'
(R):5'- cccattttccagatgaggaaac -3'

Posted On

2014-03-28