Mutagenetix > Incidental Mutation

Incidental Mutation 'R9408:Ripor3'

711634

Institutional Source

Beutler Lab

Gene Symbol

Ripor3

Ensembl Gene

ENSMUSG00000074577

Gene Name

RIPOR family member 3

Synonyms

Fam65c, 2310033K02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R9408 (G1)

Quality Score

181.009

Status

Not validated

Chromosome

Chromosomal Location

167822084-167852538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 167831238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 521 (D521V)

Ref Sequence

ENSEMBL: ENSMUSP00000096672 (fasta)

Gene Model

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

AlphaFold

A1L3T7

Predicted Effect

probably benign
Transcript: ENSMUST00000099073
AA Change: D521V

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000096672
Gene: ENSMUSG00000074577
AA Change: D521V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	A	6: 128,522,030 (GRCm39)	T1264I	probably damaging	Het
Aadac	T	A	3: 59,946,986 (GRCm39)	V228E	probably benign	Het
Abca4	A	T	3: 121,931,274 (GRCm39)	R1436W	probably benign	Het
Abo	A	G	2: 26,738,287 (GRCm39)	L39S	probably benign	Het
Acnat1	T	A	4: 49,447,773 (GRCm39)	R269S	probably benign	Het
Adap2	T	C	11: 80,045,942 (GRCm39)	V74A	probably damaging	Het
Ahctf1	C	A	1: 179,603,638 (GRCm39)	A803S	possibly damaging	Het
Ak6	A	G	13: 100,792,003 (GRCm39)	S149G	probably benign	Het
Ank	T	C	15: 27,591,588 (GRCm39)	V444A	probably damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atf7	A	C	15: 102,462,286 (GRCm39)	V112G	probably damaging	Het
Brca2	A	G	5: 150,464,982 (GRCm39)	Y1582C	probably damaging	Het
Bricd5	G	T	17: 24,693,083 (GRCm39)		probably benign	Het
Bsn	C	A	9: 108,016,652 (GRCm39)	E120*	probably null	Het
Cacna1g	T	G	11: 94,321,050 (GRCm39)	N1348T	probably damaging	Het
Ccnc	T	G	4: 21,746,776 (GRCm39)		probably null	Het
Cd163	A	G	6: 124,297,497 (GRCm39)	D881G	probably benign	Het
Cep295	G	A	9: 15,244,619 (GRCm39)	P1279L	probably benign	Het
Cic	G	A	7: 24,971,414 (GRCm39)	V382I	possibly damaging	Het
Cyp21a1	G	A	17: 35,020,860 (GRCm39)	S453F	probably damaging	Het
D16Ertd472e	A	T	16: 78,344,646 (GRCm39)	I154N	probably benign	Het
Dbf4	A	G	5: 8,447,764 (GRCm39)	V482A	possibly damaging	Het
Dchs2	G	A	3: 83,192,573 (GRCm39)	V1673M	probably benign	Het
Dctd	T	A	8: 48,590,385 (GRCm39)	C119S	probably damaging	Het
Dock1	A	G	7: 134,717,065 (GRCm39)	T1234A	probably damaging	Het
Efcab3	T	A	11: 104,621,255 (GRCm39)		probably null	Het
Eya4	A	T	10: 22,999,805 (GRCm39)	M386K		Het
Fbxw19	T	A	9: 109,315,101 (GRCm39)	M154L	probably benign	Het
Frmpd1	T	A	4: 45,279,182 (GRCm39)	S636T	probably benign	Het
Glb1l	A	T	1: 75,177,683 (GRCm39)	Y412N	probably damaging	Het
Gnb5	T	A	9: 75,218,696 (GRCm39)	L7Q	probably damaging	Het
Gpr19	C	T	6: 134,864,704 (GRCm39)	V3M	unknown	Het
Hivep2	A	G	10: 14,007,505 (GRCm39)	T1368A	probably damaging	Het
Hmx3	A	T	7: 131,146,102 (GRCm39)	Q270L	probably damaging	Het
Il1rap	A	T	16: 26,533,675 (GRCm39)	I524F	possibly damaging	Het
Mettl17	G	A	14: 52,125,491 (GRCm39)	G198D	probably damaging	Het
Mga	T	A	2: 119,765,999 (GRCm39)	I1421N	possibly damaging	Het
Myb	T	A	10: 21,026,275 (GRCm39)	Q231L	probably benign	Het
Myef2l	T	A	3: 10,154,407 (GRCm39)	M392K	probably benign	Het
Myf5	G	A	10: 107,321,527 (GRCm39)	T89I	probably damaging	Het
Nup214	T	A	2: 31,937,523 (GRCm39)	L1999Q	probably damaging	Het
Or10aa3	T	C	1: 173,878,329 (GRCm39)	L130P		Het
Or1ad6	T	A	11: 50,860,613 (GRCm39)	L256Q	probably damaging	Het
Or4a76	A	G	2: 89,460,388 (GRCm39)	Y285H	probably damaging	Het
Or51t4	A	T	7: 102,598,443 (GRCm39)	H257L	probably damaging	Het
Or5w19	G	A	2: 87,698,379 (GRCm39)	G15R	probably damaging	Het
Or7a36	A	G	10: 78,820,220 (GRCm39)	M199V	probably benign	Het
Otog	A	T	7: 45,916,721 (GRCm39)	D886V	possibly damaging	Het
Pde7a	A	C	3: 19,287,958 (GRCm39)	V237G	possibly damaging	Het
Pigs	T	C	11: 78,230,213 (GRCm39)	Y327H	probably damaging	Het
Pkd2l2	T	C	18: 34,563,383 (GRCm39)	V478A	probably damaging	Het
Pnrc1	C	A	4: 33,246,488 (GRCm39)	G157V	probably damaging	Het
Poglut1	G	T	16: 38,347,137 (GRCm39)	S343R	probably benign	Het
Ppwd1	A	G	13: 104,346,155 (GRCm39)	M500T	possibly damaging	Het
Pyy	C	T	11: 101,998,111 (GRCm39)	G23E	probably damaging	Het
Rnpepl1	T	C	1: 92,845,424 (GRCm39)	S448P	probably benign	Het
Sash1	G	A	10: 8,637,994 (GRCm39)		probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Synj1	C	T	16: 90,741,740 (GRCm39)	C1252Y	probably benign	Het
Tenm2	A	T	11: 35,960,246 (GRCm39)	L1027Q	probably damaging	Het
Tep1	A	G	14: 51,074,637 (GRCm39)	V1796A	possibly damaging	Het
Timp3	A	T	10: 86,136,782 (GRCm39)	E22V	possibly damaging	Het
Tlk1	A	C	2: 70,617,219 (GRCm39)		probably null	Het
Tmco1	C	A	1: 167,141,700 (GRCm39)	T69K		Het
Topaz1	T	A	9: 122,626,728 (GRCm39)	M1452K	probably benign	Het
Tsc22d2	T	C	3: 58,367,453 (GRCm39)	Y668H	unknown	Het
Uri1	A	T	7: 37,669,031 (GRCm39)	D153E	probably benign	Het
Vmn1r169	A	T	7: 23,277,342 (GRCm39)	T245S	probably damaging	Het
Vmn1r60	A	G	7: 5,547,918 (GRCm39)	Y61H		Het
Zfp541	A	T	7: 15,806,139 (GRCm39)	E91D	probably damaging	Het
Zfp946	A	G	17: 22,673,569 (GRCm39)	N108D	possibly damaging	Het
Zpr1	T	C	9: 46,186,747 (GRCm39)	L194P	probably damaging	Het
Zzef1	T	A	11: 72,755,653 (GRCm39)	N1027K	possibly damaging	Het

Other mutations in Ripor3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Ripor3	APN	2	167,835,495 (GRCm39)	missense	probably benign	0.05
IGL01621:Ripor3	APN	2	167,839,172 (GRCm39)	missense	probably damaging	0.97
IGL01819:Ripor3	APN	2	167,822,763 (GRCm39)	missense	probably damaging	0.99
IGL01891:Ripor3	APN	2	167,825,071 (GRCm39)	missense	possibly damaging	0.95
IGL02110:Ripor3	APN	2	167,836,626 (GRCm39)	missense	possibly damaging	0.95
IGL02270:Ripor3	APN	2	167,835,416 (GRCm39)	missense	probably damaging	0.97
IGL02403:Ripor3	APN	2	167,831,250 (GRCm39)	missense	probably damaging	1.00
IGL02445:Ripor3	APN	2	167,834,682 (GRCm39)	splice site	probably benign
IGL02447:Ripor3	APN	2	167,834,750 (GRCm39)	missense	probably damaging	0.99
IGL02711:Ripor3	APN	2	167,848,200 (GRCm39)	utr 5 prime	probably benign
IGL03187:Ripor3	APN	2	167,827,588 (GRCm39)	missense	possibly damaging	0.64
IGL03304:Ripor3	APN	2	167,822,848 (GRCm39)	splice site	probably benign
R0062:Ripor3	UTSW	2	167,826,358 (GRCm39)	splice site	probably benign
R0062:Ripor3	UTSW	2	167,826,358 (GRCm39)	splice site	probably benign
R0233:Ripor3	UTSW	2	167,834,518 (GRCm39)	missense	probably damaging	1.00
R0233:Ripor3	UTSW	2	167,834,518 (GRCm39)	missense	probably damaging	1.00
R0387:Ripor3	UTSW	2	167,825,692 (GRCm39)	nonsense	probably null
R1457:Ripor3	UTSW	2	167,834,573 (GRCm39)	missense	probably damaging	1.00
R1481:Ripor3	UTSW	2	167,842,297 (GRCm39)	missense	possibly damaging	0.95
R1619:Ripor3	UTSW	2	167,822,765 (GRCm39)	missense	probably damaging	0.96
R2358:Ripor3	UTSW	2	167,825,785 (GRCm39)	splice site	probably benign
R2431:Ripor3	UTSW	2	167,831,715 (GRCm39)	missense	probably benign	0.06
R2943:Ripor3	UTSW	2	167,825,681 (GRCm39)	missense	possibly damaging	0.46
R3000:Ripor3	UTSW	2	167,833,100 (GRCm39)	missense	probably damaging	1.00
R3730:Ripor3	UTSW	2	167,834,739 (GRCm39)	missense	probably damaging	1.00
R3731:Ripor3	UTSW	2	167,834,739 (GRCm39)	missense	probably damaging	1.00
R4084:Ripor3	UTSW	2	167,826,386 (GRCm39)	missense	possibly damaging	0.55
R4796:Ripor3	UTSW	2	167,823,260 (GRCm39)	missense	probably damaging	0.97
R4854:Ripor3	UTSW	2	167,834,733 (GRCm39)	missense	probably benign	0.05
R4934:Ripor3	UTSW	2	167,824,736 (GRCm39)	missense	probably benign
R4968:Ripor3	UTSW	2	167,827,037 (GRCm39)	missense	probably benign	0.41
R5662:Ripor3	UTSW	2	167,835,476 (GRCm39)	missense	probably benign	0.01
R5739:Ripor3	UTSW	2	167,823,203 (GRCm39)	missense	probably damaging	1.00
R5888:Ripor3	UTSW	2	167,839,207 (GRCm39)	missense	probably damaging	1.00
R6844:Ripor3	UTSW	2	167,835,253 (GRCm39)	splice site	probably null
R6969:Ripor3	UTSW	2	167,827,657 (GRCm39)	missense	probably benign	0.01
R6994:Ripor3	UTSW	2	167,839,186 (GRCm39)	missense	probably damaging	0.99
R7609:Ripor3	UTSW	2	167,826,490 (GRCm39)	missense	possibly damaging	0.86
R7818:Ripor3	UTSW	2	167,831,346 (GRCm39)	missense	probably benign	0.09
R8175:Ripor3	UTSW	2	167,825,679 (GRCm39)	missense	probably benign	0.00
R8329:Ripor3	UTSW	2	167,825,119 (GRCm39)	missense	possibly damaging	0.89
R9120:Ripor3	UTSW	2	167,822,835 (GRCm39)	missense	possibly damaging	0.79
R9130:Ripor3	UTSW	2	167,823,267 (GRCm39)	nonsense	probably null
R9550:Ripor3	UTSW	2	167,822,807 (GRCm39)	missense	probably benign	0.23
R9660:Ripor3	UTSW	2	167,831,646 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCCTTGAAATGTGGGGAAAC -3'
(R):5'- CAGGGGTGTGCTTGTAGAAC -3'

Sequencing Primer
(F):5'- ACCCAGGTCACATAGGGG -3'
(R):5'- TGTGCTTGTAGAACGGCCC -3'

Posted On

2022-05-16