Mutagenetix > Incidental Mutation

Incidental Mutation 'R6293:Rhbg'

508537

Institutional Source

Beutler Lab

Gene Symbol

Rhbg

Ensembl Gene

ENSMUSG00000104445

Gene Name

Rhesus blood group-associated B glycoprotein

Synonyms

MMRRC Submission

044462-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88150181-88162016 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 88153133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 274 (R274*)

Ref Sequence

ENSEMBL: ENSMUSP00000130767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171887]

AlphaFold

Q8BUX5

Predicted Effect

probably benign
Transcript: ENSMUST00000163277

Predicted Effect

probably null
Transcript: ENSMUST00000165196
AA Change: R252*

SMART Domains

Protein: ENSMUSP00000132187
Gene: ENSMUSG00000103766
AA Change: R252*

Domain	Start	End	E-Value	Type
Pfam:Ammonium_transp	1	353	9.7e-70	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000171887
AA Change: R274*

SMART Domains

Protein: ENSMUSP00000130767
Gene: ENSMUSG00000104445
AA Change: R274*

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
Pfam:Ammonium_transp	22	419	5.9e-74	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, do not develop hyperammonemic hepatic encephalopathy or distal tubular acidosis, and show a normal renal response to chronic acid-loading and no changes in NH4+ or NH3 entry across the basolateral membrane of cortical collecting ducts cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,935,395 (GRCm39)	D323G	probably damaging	Het
Abcb1b	T	C	5: 8,903,493 (GRCm39)	I1048T	probably benign	Het
Adgra3	G	A	5: 50,118,189 (GRCm39)	P1120S	probably benign	Het
Alkbh8	G	T	9: 3,347,841 (GRCm39)	L211F	possibly damaging	Het
Ankrd27	T	C	7: 35,307,885 (GRCm39)	S375P	possibly damaging	Het
Apoc1	T	A	7: 19,425,817 (GRCm39)	T68S	probably damaging	Het
Arfgef2	T	A	2: 166,715,508 (GRCm39)	Y1318N	possibly damaging	Het
Camsap2	C	A	1: 136,215,658 (GRCm39)	R345L	probably damaging	Het
Ccdc38	C	T	10: 93,398,659 (GRCm39)	Q46*	probably null	Het
Cdk12	T	A	11: 98,115,379 (GRCm39)	M840K	unknown	Het
Cfap251	A	C	5: 123,460,511 (GRCm39)	N1158H	probably damaging	Het
Col12a1	A	T	9: 79,521,640 (GRCm39)	N2772K	probably benign	Het
Dthd1	A	G	5: 63,000,193 (GRCm39)	D505G	probably damaging	Het
Elf1	C	T	14: 79,798,226 (GRCm39)	H38Y	probably damaging	Het
Gcnt2	T	A	13: 41,072,173 (GRCm39)	V272D	probably damaging	Het
Gm9964	T	A	11: 79,187,420 (GRCm39)	K9M	unknown	Het
Gpr155	A	G	2: 73,204,341 (GRCm39)	S158P	possibly damaging	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hmcn2	T	C	2: 31,225,463 (GRCm39)	I124T	probably damaging	Het
Hydin	A	G	8: 111,324,543 (GRCm39)	S4635G	possibly damaging	Het
Lrch2	C	T	X: 146,263,553 (GRCm39)	A369T	probably damaging	Homo
Lrrc8c	A	G	5: 105,754,612 (GRCm39)	Y129C	probably damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mcm3ap	C	G	10: 76,307,312 (GRCm39)	Y418*	probably null	Het
Mpdz	A	G	4: 81,278,293 (GRCm39)	L764P	probably damaging	Het
Myt1l	A	G	12: 29,877,627 (GRCm39)	D426G	unknown	Het
Ndel1	C	T	11: 68,727,101 (GRCm39)	R192H	probably damaging	Het
Nudt21	T	C	8: 94,755,506 (GRCm39)	D134G	probably damaging	Het
Nup210l	A	T	3: 90,022,371 (GRCm39)	H113L	probably damaging	Het
Nxf1	A	G	19: 8,746,546 (GRCm39)	K586E	probably damaging	Het
Or2ag15	T	C	7: 106,340,613 (GRCm39)	H176R	probably damaging	Het
Or4s2	A	G	2: 88,473,624 (GRCm39)	E171G	possibly damaging	Het
Osbpl8	A	G	10: 111,108,099 (GRCm39)	Y365C	possibly damaging	Het
Pkd2l2	A	G	18: 34,560,497 (GRCm39)	Y368C	probably damaging	Het
Pkn2	A	G	3: 142,515,465 (GRCm39)	F649L	probably benign	Het
Pla2g4a	T	C	1: 149,755,798 (GRCm39)	Y205C	probably damaging	Het
Prex2	A	G	1: 11,232,522 (GRCm39)	N863S	probably benign	Het
Prkdc	A	G	16: 15,605,019 (GRCm39)	K2979R	probably benign	Het
Ptk6	T	C	2: 180,840,253 (GRCm39)	Y251C	probably damaging	Het
Rapgef6	T	A	11: 54,525,607 (GRCm39)	W334R	probably damaging	Het
Rbm11	A	T	16: 75,393,655 (GRCm39)		probably null	Het
Rhbdl1	A	G	17: 26,053,943 (GRCm39)	L309P	probably damaging	Het
Rpp30	A	G	19: 36,081,845 (GRCm39)	*269W	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Slc44a1	A	G	4: 53,561,099 (GRCm39)	K605R	probably damaging	Het
Slco2a1	A	G	9: 102,927,346 (GRCm39)	S80G	probably benign	Het
Tmem50b	A	T	16: 91,380,164 (GRCm39)	M71K	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Tyro3	A	G	2: 119,638,481 (GRCm39)	T303A	possibly damaging	Het
Uba3	A	T	6: 97,173,869 (GRCm39)	D105E	probably damaging	Het
Vmn1r21	T	C	6: 57,821,255 (GRCm39)	D63G	probably benign	Het
Vstm2b	T	A	7: 40,549,533 (GRCm39)	I63N	probably damaging	Het
Ylpm1	C	G	12: 85,062,051 (GRCm39)	P651A	unknown	Het
Zscan22	T	A	7: 12,640,834 (GRCm39)	C359*	probably null	Het

Other mutations in Rhbg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0496:Rhbg	UTSW	3	88,161,805 (GRCm39)	missense	probably benign
R0786:Rhbg	UTSW	3	88,151,875 (GRCm39)	missense	probably benign	0.04
R1397:Rhbg	UTSW	3	88,155,753 (GRCm39)	missense	probably benign	0.14
R1737:Rhbg	UTSW	3	88,153,181 (GRCm39)	missense	probably damaging	1.00
R1927:Rhbg	UTSW	3	88,151,859 (GRCm39)	missense	probably benign	0.00
R2088:Rhbg	UTSW	3	88,154,765 (GRCm39)	missense	probably damaging	1.00
R3976:Rhbg	UTSW	3	88,151,843 (GRCm39)	missense	probably damaging	1.00
R4056:Rhbg	UTSW	3	88,150,755 (GRCm39)	missense	probably damaging	1.00
R4669:Rhbg	UTSW	3	88,153,273 (GRCm39)	missense	probably damaging	1.00
R4878:Rhbg	UTSW	3	88,154,760 (GRCm39)	missense	probably benign	0.43
R5032:Rhbg	UTSW	3	88,152,441 (GRCm39)	missense	probably damaging	1.00
R5330:Rhbg	UTSW	3	88,152,775 (GRCm39)	missense	probably benign	0.10
R5331:Rhbg	UTSW	3	88,152,775 (GRCm39)	missense	probably benign	0.10
R5788:Rhbg	UTSW	3	88,152,874 (GRCm39)	missense	probably benign	0.00
R6882:Rhbg	UTSW	3	88,152,527 (GRCm39)	missense	probably damaging	1.00
R7493:Rhbg	UTSW	3	88,154,886 (GRCm39)	missense	probably damaging	1.00
R7944:Rhbg	UTSW	3	88,155,007 (GRCm39)	missense	probably benign	0.19
R8024:Rhbg	UTSW	3	88,155,760 (GRCm39)	missense	probably damaging	1.00
R8358:Rhbg	UTSW	3	88,152,525 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGCCAAGGTATCTTATAAGACC -3'
(R):5'- GGCTACCCACTTGTTTAGGG -3'

Sequencing Primer
(F):5'- ACTCATTTACAGTGGCACCTAGTG -3'
(R):5'- AGGGACCATCTTCCTGTGG -3'

Posted On

2018-03-15