Mutagenetix > Incidental Mutation

Incidental Mutation 'R1921:Rrbp1'

213028

Institutional Source

Beutler Lab

Gene Symbol

Rrbp1

Ensembl Gene

ENSMUSG00000027422

Gene Name

ribosome binding protein 1

Synonyms

mRRp1.8, mRRp0, mRRp5.4, mRRp47, 1700087N07Rik, mRRp10, mRRp16.8, ES/130, p180, mRRp41, mRRp2, mRRp15b, 5730465C04Rik, mRRp15a

MMRRC Submission

039939-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R1921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143789315-143853183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143830211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 652 (V652E)

Ref Sequence

ENSEMBL: ENSMUSP00000040560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016072] [ENSMUST00000037875]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000016072
AA Change: V652E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: V652E

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:Rib_recp_KP_reg	33	171	2.3e-40	PFAM
low complexity region	197	215	N/A	INTRINSIC
internal_repeat_2	218	373	2.94e-114	PROSPERO
internal_repeat_1	219	406	7.79e-148	PROSPERO
internal_repeat_1	410	618	7.79e-148	PROSPERO
internal_repeat_2	449	692	2.94e-114	PROSPERO
coiled coil region	757	1126	N/A	INTRINSIC
coiled coil region	1167	1321	N/A	INTRINSIC
coiled coil region	1342	1455	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037875
AA Change: V652E

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000040560
Gene: ENSMUSG00000027422
AA Change: V652E

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:Rib_recp_KP_reg	33	173	2.8e-47	PFAM
low complexity region	197	215	N/A	INTRINSIC
Blast:KISc	470	652	3e-13	BLAST

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Abhd2	T	C	7: 78,998,104 (GRCm39)	I212T	possibly damaging	Het
Adam7	A	C	14: 68,750,074 (GRCm39)	S449A	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aox3	T	C	1: 58,219,810 (GRCm39)	Y1137H	probably damaging	Het
Atp11b	T	C	3: 35,888,474 (GRCm39)	Y715H	probably damaging	Het
Atrn	A	G	2: 130,836,971 (GRCm39)	Y1145C	probably damaging	Het
Btbd7	A	G	12: 102,760,055 (GRCm39)	I631T	probably benign	Het
Cadps	T	C	14: 12,465,859 (GRCm38)	K1017R	possibly damaging	Het
Cfap45	A	G	1: 172,372,679 (GRCm39)	E458G	probably damaging	Het
Cptp	C	T	4: 155,950,995 (GRCm39)	R157H	probably damaging	Het
Dcbld1	A	C	10: 52,195,747 (GRCm39)	E318D	possibly damaging	Het
Ddr2	G	T	1: 169,831,814 (GRCm39)	P197Q	probably damaging	Het
Dlg5	T	C	14: 24,226,639 (GRCm39)	Y421C	probably damaging	Het
Dlgap2	A	G	8: 14,893,624 (GRCm39)	K980E	probably benign	Het
Drc7	T	C	8: 95,782,644 (GRCm39)	V3A	unknown	Het
Dst	T	C	1: 34,200,110 (GRCm39)	V96A	probably damaging	Het
Ect2l	T	C	10: 18,018,752 (GRCm39)	D548G	possibly damaging	Het
Efcab10	A	T	12: 33,448,434 (GRCm39)	Y89F	probably benign	Het
Eif1ad	CGAGGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGGAGG	19: 5,420,086 (GRCm39)		probably benign	Het
Entpd6	A	G	2: 150,600,732 (GRCm39)	T147A	probably damaging	Het
Fbxl5	T	A	5: 43,922,832 (GRCm39)	E189D	probably benign	Het
Fer1l6	T	A	15: 58,497,080 (GRCm39)	S1217T	probably damaging	Het
Frem2	A	T	3: 53,560,916 (GRCm39)	V1197D	possibly damaging	Het
Fsip2	T	A	2: 82,811,127 (GRCm39)	L2482*	probably null	Het
Fsip2	A	T	2: 82,817,164 (GRCm39)	D4299V	probably benign	Het
Gipc3	T	A	10: 81,174,049 (GRCm39)	I242F	probably damaging	Het
Hoxb1	T	A	11: 96,256,938 (GRCm39)	Y96N	probably damaging	Het
Ibsp	A	G	5: 104,458,078 (GRCm39)	E205G	probably damaging	Het
Ibtk	A	G	9: 85,585,135 (GRCm39)	S1170P	probably benign	Het
Igfn1	A	G	1: 135,893,801 (GRCm39)		probably null	Het
Iqsec1	A	G	6: 90,639,877 (GRCm39)	S954P	probably benign	Het
Kalrn	A	T	16: 34,212,463 (GRCm39)	D28E	probably benign	Het
Lrmda	T	C	14: 22,627,938 (GRCm39)	F52L	probably damaging	Het
Lrp2	T	C	2: 69,353,631 (GRCm39)	D543G	probably damaging	Het
Lrrtm3	T	C	10: 63,924,157 (GRCm39)	T337A	probably benign	Het
Marf1	C	T	16: 13,946,465 (GRCm39)	D1219N	possibly damaging	Het
Mkln1	A	G	6: 31,405,113 (GRCm39)	K118R	probably benign	Het
Nedd4l	T	C	18: 65,300,646 (GRCm39)		probably null	Het
Neu2	A	G	1: 87,525,023 (GRCm39)	E336G	probably benign	Het
Nfasc	A	G	1: 132,538,543 (GRCm39)	F448S	probably damaging	Het
Nlrx1	C	A	9: 44,165,431 (GRCm39)	E822*	probably null	Het
Nr5a1	T	C	2: 38,584,108 (GRCm39)	Y437C	probably damaging	Het
Or4c119	A	G	2: 88,986,925 (GRCm39)	V198A	probably benign	Het
Or7a37	T	A	10: 78,805,975 (GRCm39)	L164*	probably null	Het
Or8b38	T	C	9: 37,972,981 (GRCm39)	Y122H	probably damaging	Het
Phtf1	C	T	3: 103,876,438 (GRCm39)	Q13*	probably null	Het
Pnldc1	A	G	17: 13,107,815 (GRCm39)	L525P	possibly damaging	Het
Ppl	T	A	16: 4,923,988 (GRCm39)	D162V	possibly damaging	Het
Prkdc	T	A	16: 15,532,079 (GRCm39)	S1448T	possibly damaging	Het
Ptgdr	A	G	14: 45,090,738 (GRCm39)	I340T	probably benign	Het
Recql	T	C	6: 142,311,315 (GRCm39)	I458M	probably benign	Het
Rtp1	T	A	16: 23,250,160 (GRCm39)	I175N	probably damaging	Het
Ryr1	A	G	7: 28,754,369 (GRCm39)	M3523T	probably damaging	Het
S100a16	T	C	3: 90,449,703 (GRCm39)	L62P	probably damaging	Het
Samd11	T	C	4: 156,333,166 (GRCm39)	E364G	probably damaging	Het
Satb1	C	A	17: 52,049,143 (GRCm39)	G603*	probably null	Het
Shroom3	T	A	5: 93,110,224 (GRCm39)		probably null	Het
Slc25a15	A	G	8: 22,885,777 (GRCm39)	S3P	probably benign	Het
Socs2	A	T	10: 95,248,900 (GRCm39)	L71*	probably null	Het
Sptbn1	T	C	11: 30,054,469 (GRCm39)	E2208G	probably damaging	Het
St14	A	G	9: 31,001,166 (GRCm39)	V855A	possibly damaging	Het
Susd1	T	A	4: 59,412,191 (GRCm39)	T121S	probably benign	Het
Svs3b	A	T	2: 164,097,848 (GRCm39)	S158T	probably benign	Het
Synpo	C	T	18: 60,736,661 (GRCm39)	M428I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar4	A	G	10: 23,837,239 (GRCm39)	D283G	probably damaging	Het
Tango6	T	A	8: 107,415,426 (GRCm39)	D82E	probably benign	Het
Tcof1	T	C	18: 60,971,927 (GRCm39)	T127A	possibly damaging	Het
Tle3	G	A	9: 61,318,622 (GRCm39)		probably null	Het
Tmem45a	A	G	16: 56,642,665 (GRCm39)	F169L	probably benign	Het
Trp53rkb	T	A	2: 166,637,743 (GRCm39)	V233E	probably damaging	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Tubgcp3	A	T	8: 12,671,932 (GRCm39)	L770*	probably null	Het
Tut1	G	A	19: 8,943,466 (GRCm39)	G851D	probably benign	Het
Ubr1	G	A	2: 120,761,449 (GRCm39)	T576I	probably benign	Het
Vmn1r125	T	A	7: 21,006,530 (GRCm39)	Y143N	probably damaging	Het
Vmn2r120	T	A	17: 57,831,839 (GRCm39)	I317F	probably benign	Het
Vmn2r95	T	A	17: 18,644,575 (GRCm39)	N70K	probably benign	Het
Vps35l	A	G	7: 118,432,971 (GRCm39)	N568S	probably damaging	Het
Wdr59	A	T	8: 112,213,582 (GRCm39)	L311*	probably null	Het
Wnt2	A	G	6: 18,030,252 (GRCm39)	L12P	unknown	Het
Xrn1	T	C	9: 95,881,550 (GRCm39)	I700T	probably benign	Het
Ypel1	A	G	16: 16,900,443 (GRCm39)	H98R	probably benign	Het
Zfp219	T	C	14: 52,245,691 (GRCm39)	T434A	probably benign	Het
Zik1	A	C	7: 10,223,943 (GRCm39)	C385G	probably damaging	Het

Other mutations in Rrbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01330:Rrbp1	APN	2	143,810,538 (GRCm39)	missense	possibly damaging	0.93
IGL01636:Rrbp1	APN	2	143,789,815 (GRCm39)	unclassified	probably benign
IGL01923:Rrbp1	APN	2	143,832,081 (GRCm39)	missense	probably damaging	1.00
IGL02513:Rrbp1	APN	2	143,830,350 (GRCm39)	missense	possibly damaging	0.55
IGL02548:Rrbp1	APN	2	143,791,679 (GRCm39)	splice site	probably benign
IGL02678:Rrbp1	APN	2	143,832,107 (GRCm39)	missense	probably damaging	0.98
FR4449:Rrbp1	UTSW	2	143,809,376 (GRCm39)	frame shift	probably null
PIT4378001:Rrbp1	UTSW	2	143,816,460 (GRCm39)	missense	probably benign	0.00
R0127:Rrbp1	UTSW	2	143,831,864 (GRCm39)	missense	probably benign	0.21
R0611:Rrbp1	UTSW	2	143,830,436 (GRCm39)	missense	probably damaging	1.00
R0881:Rrbp1	UTSW	2	143,795,173 (GRCm39)	missense	probably benign	0.09
R1439:Rrbp1	UTSW	2	143,797,032 (GRCm39)	critical splice donor site	probably null
R1534:Rrbp1	UTSW	2	143,830,233 (GRCm39)	missense	probably damaging	1.00
R1604:Rrbp1	UTSW	2	143,831,310 (GRCm39)	missense	probably damaging	0.99
R1920:Rrbp1	UTSW	2	143,830,211 (GRCm39)	missense	probably benign	0.16
R2152:Rrbp1	UTSW	2	143,796,118 (GRCm39)	missense	possibly damaging	0.75
R2153:Rrbp1	UTSW	2	143,796,118 (GRCm39)	missense	possibly damaging	0.75
R2319:Rrbp1	UTSW	2	143,799,479 (GRCm39)	missense	probably benign	0.01
R2850:Rrbp1	UTSW	2	143,791,269 (GRCm39)	missense	probably benign	0.09
R2864:Rrbp1	UTSW	2	143,799,557 (GRCm39)	missense	probably damaging	0.99
R3433:Rrbp1	UTSW	2	143,794,200 (GRCm39)	splice site	probably benign
R3707:Rrbp1	UTSW	2	143,795,197 (GRCm39)	missense	probably benign	0.01
R3837:Rrbp1	UTSW	2	143,831,478 (GRCm39)	missense	probably damaging	1.00
R4073:Rrbp1	UTSW	2	143,805,030 (GRCm39)	missense	probably benign	0.16
R4074:Rrbp1	UTSW	2	143,805,030 (GRCm39)	missense	probably benign	0.16
R4076:Rrbp1	UTSW	2	143,805,030 (GRCm39)	missense	probably benign	0.16
R4279:Rrbp1	UTSW	2	143,805,028 (GRCm39)	missense	probably benign	0.16
R4583:Rrbp1	UTSW	2	143,830,671 (GRCm39)	missense	probably benign	0.03
R4820:Rrbp1	UTSW	2	143,806,685 (GRCm39)	missense	possibly damaging	0.78
R4829:Rrbp1	UTSW	2	143,831,607 (GRCm39)	missense	probably benign	0.18
R4836:Rrbp1	UTSW	2	143,830,337 (GRCm39)	missense	possibly damaging	0.75
R5589:Rrbp1	UTSW	2	143,831,886 (GRCm39)	missense	probably benign	0.16
R5801:Rrbp1	UTSW	2	143,831,703 (GRCm39)	missense	probably damaging	1.00
R5806:Rrbp1	UTSW	2	143,805,251 (GRCm39)	missense	probably benign	0.16
R5955:Rrbp1	UTSW	2	143,791,597 (GRCm39)	missense	probably benign	0.06
R6102:Rrbp1	UTSW	2	143,830,313 (GRCm39)	missense	probably damaging	1.00
R6368:Rrbp1	UTSW	2	143,831,475 (GRCm39)	missense	probably damaging	1.00
R6916:Rrbp1	UTSW	2	143,816,518 (GRCm39)	missense	probably benign	0.03
R7022:Rrbp1	UTSW	2	143,799,722 (GRCm39)	splice site	probably null
R7061:Rrbp1	UTSW	2	143,831,087 (GRCm39)	missense	possibly damaging	0.61
R7136:Rrbp1	UTSW	2	143,791,600 (GRCm39)	missense	probably benign	0.16
R7291:Rrbp1	UTSW	2	143,811,382 (GRCm39)	missense	probably benign	0.09
R7361:Rrbp1	UTSW	2	143,809,364 (GRCm39)	missense	probably benign	0.01
R7816:Rrbp1	UTSW	2	143,830,855 (GRCm39)	missense	probably damaging	1.00
R7877:Rrbp1	UTSW	2	143,789,815 (GRCm39)	unclassified	probably benign
R7968:Rrbp1	UTSW	2	143,832,081 (GRCm39)	missense	probably damaging	1.00
R8022:Rrbp1	UTSW	2	143,798,712 (GRCm39)	missense	probably benign	0.42
R8306:Rrbp1	UTSW	2	143,792,416 (GRCm39)	missense	probably benign	0.02
R8439:Rrbp1	UTSW	2	143,797,053 (GRCm39)	missense	probably benign	0.23
R8469:Rrbp1	UTSW	2	143,831,661 (GRCm39)	missense	probably damaging	0.98
R8485:Rrbp1	UTSW	2	143,796,933 (GRCm39)	missense	probably benign	0.09
R8526:Rrbp1	UTSW	2	143,816,403 (GRCm39)	missense	probably benign	0.33
R8534:Rrbp1	UTSW	2	143,830,095 (GRCm39)	missense	probably damaging	1.00
R8556:Rrbp1	UTSW	2	143,831,045 (GRCm39)	missense	possibly damaging	0.84
R8735:Rrbp1	UTSW	2	143,830,920 (GRCm39)	nonsense	probably null
R9258:Rrbp1	UTSW	2	143,853,161 (GRCm39)	start gained	probably benign
R9326:Rrbp1	UTSW	2	143,806,744 (GRCm39)	missense	probably damaging	0.99
R9419:Rrbp1	UTSW	2	143,811,436 (GRCm39)	missense	probably benign	0.09
R9585:Rrbp1	UTSW	2	143,799,479 (GRCm39)	missense	probably benign	0.01
R9660:Rrbp1	UTSW	2	143,831,178 (GRCm39)	missense	probably damaging	1.00
R9694:Rrbp1	UTSW	2	143,832,099 (GRCm39)	missense	probably damaging	1.00
Z1088:Rrbp1	UTSW	2	143,816,406 (GRCm39)	missense	probably damaging	1.00
Z1177:Rrbp1	UTSW	2	143,811,415 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCTATCTGGGGTGAAAAGACAATG -3'
(R):5'- GGGGCTTCCAACCAGAACAG -3'

Sequencing Primer
(F):5'- AGTCACAGTCAGCGGCTTTC -3'
(R):5'- CAGAAAGACAGATACAGTTGCTAATC -3'

Posted On

2014-07-14