Mutagenetix > Incidental Mutations

Incidental Mutation 'R5621:Mrgprb3'

441564

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb3

Ensembl Gene

ENSMUSG00000070546

Gene Name

MAS-related GPR, member B3

Synonyms

MrgB3

MMRRC Submission

043279-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5621 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48642803-48643811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48643368 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 145 (I145T)

Ref Sequence

ENSEMBL: ENSMUSP00000091945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094383]

Predicted Effect

probably benign
Transcript: ENSMUST00000094383
AA Change: I145T

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091945
Gene: ENSMUSG00000070546
AA Change: I145T

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	25	279	4e-13	SMART
low complexity region	301	312	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	G	17: 84,695,993	L417R	probably damaging	Het
Als2	A	G	1: 59,191,890	V854A	probably benign	Het
Bbox1	C	T	2: 110,292,523	W140*	probably null	Het
Ccdc28a	A	T	10: 18,216,268	N110K	probably benign	Het
Chrna6	C	T	8: 27,407,040	E270K	probably damaging	Het
Cilp	A	G	9: 65,278,791	K723E	possibly damaging	Het
Ciz1	C	A	2: 32,371,741	A455E	probably damaging	Het
Csmd3	T	G	15: 48,313,978	H388P	possibly damaging	Het
Dnajc8	A	G	4: 132,553,252		probably benign	Het
Dnase1	G	T	16: 4,039,118	C164F	probably benign	Het
Dync2h1	A	T	9: 7,120,909	I2126K	possibly damaging	Het
Epha4	G	T	1: 77,515,049		probably benign	Het
Fer1l6	T	C	15: 58,558,326	C201R	probably damaging	Het
Fgf8	T	C	19: 45,742,382	Y68C	probably benign	Het
Gabrb1	A	T	5: 72,108,728	I243F	probably damaging	Het
Gm13762	T	C	2: 88,973,466	I142V	probably benign	Het
Gm9774	G	A	3: 92,428,357	A346V	probably damaging	Het
Gpam	A	C	19: 55,079,260	S484A	probably damaging	Het
Hectd2	T	A	19: 36,618,751	N745K	probably damaging	Het
Hspa13	T	C	16: 75,766,763		probably benign	Het
Ints2	A	G	11: 86,242,947	F426L	probably benign	Het
Ism1	A	G	2: 139,678,721	T18A	probably damaging	Het
Itih2	T	A	2: 10,102,805	Q650L	probably benign	Het
Jmjd4	T	C	11: 59,450,393	F50S	probably damaging	Het
Kif5b	T	C	18: 6,226,883	N125S	probably benign	Het
Lonp1	G	C	17: 56,620,263	A330G	probably benign	Het
Lrfn1	A	G	7: 28,466,836	I552V	probably damaging	Het
Mcph1	A	G	8: 18,632,170	E441G	probably damaging	Het
Mdn1	T	A	4: 32,716,371	H2144Q	possibly damaging	Het
Mms19	A	G	19: 41,966,313	S56P	probably benign	Het
Myh11	G	A	16: 14,244,855	T287I	probably damaging	Het
Npas2	A	G	1: 39,359,713	T730A	probably benign	Het
Olfr1229	G	A	2: 89,282,353	P281L	probably damaging	Het
Pcdhgb1	A	G	18: 37,682,169	E571G	possibly damaging	Het
Pcx	T	A	19: 4,619,167	V731E	possibly damaging	Het
Pgm1	T	A	5: 64,112,038	Y489*	probably null	Het
Rrp12	T	C	19: 41,880,417	T541A	probably benign	Het
Ryr3	C	T	2: 112,900,984	W660*	probably null	Het
Sertad2	T	A	11: 20,648,061	F86I	possibly damaging	Het
Slc11a1	G	A	1: 74,380,906	G191D	probably damaging	Het
Slc22a22	G	T	15: 57,259,151	F143L	probably benign	Het
Slc22a28	C	T	19: 8,071,011	V424I	probably benign	Het
Slc7a11	T	G	3: 50,438,875	K106N	probably damaging	Het
Smgc	A	T	15: 91,844,420	D121V	probably damaging	Het
Sphk1	C	T	11: 116,536,366		probably benign	Het
Spock3	A	T	8: 63,144,006	T118S	probably benign	Het
Stk17b	G	T	1: 53,771,784	S54*	probably null	Het
Sycp2	A	G	2: 178,381,918	I435T	probably benign	Het
Tm2d3	G	T	7: 65,701,618	D207Y	probably damaging	Het
Top2b	A	T	14: 16,387,280	N123Y	probably damaging	Het
Unc80	A	G	1: 66,638,043	T2044A	possibly damaging	Het
Usp6nl	A	G	2: 6,440,432	S407G	probably benign	Het
Vmn1r195	G	A	13: 22,278,389	V10I	probably benign	Het
Zfp292	C	T	4: 34,811,703	R447H	probably damaging	Het

Other mutations in Mrgprb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03069:Mrgprb3	APN	7	48643450	missense	possibly damaging	0.71
Reserve	UTSW	7	48643699	missense	probably benign	0.02
starker	UTSW	7	48643368	missense	probably benign	0.28
IGL03052:Mrgprb3	UTSW	7	48643593	missense	possibly damaging	0.93
R0446:Mrgprb3	UTSW	7	48643236	missense	probably benign	0.42
R0546:Mrgprb3	UTSW	7	48643515	missense	probably damaging	1.00
R0885:Mrgprb3	UTSW	7	48643096	missense	probably damaging	1.00
R1764:Mrgprb3	UTSW	7	48643023	missense	probably benign	0.01
R2044:Mrgprb3	UTSW	7	48643734	missense	possibly damaging	0.92
R2230:Mrgprb3	UTSW	7	48643022	missense	probably benign	0.05
R2232:Mrgprb3	UTSW	7	48643022	missense	probably benign	0.05
R2240:Mrgprb3	UTSW	7	48643641	missense	probably damaging	0.99
R3001:Mrgprb3	UTSW	7	48643484	missense	probably benign
R3002:Mrgprb3	UTSW	7	48643484	missense	probably benign
R4717:Mrgprb3	UTSW	7	48643252	missense	probably benign	0.01
R4805:Mrgprb3	UTSW	7	48643306	missense	probably benign	0.01
R5083:Mrgprb3	UTSW	7	48643014	missense	probably benign	0.01
R5311:Mrgprb3	UTSW	7	48643311	missense	probably damaging	1.00
R5330:Mrgprb3	UTSW	7	48642934	missense	possibly damaging	0.90
R5331:Mrgprb3	UTSW	7	48642934	missense	possibly damaging	0.90
R5615:Mrgprb3	UTSW	7	48643486	missense	probably benign	0.01
R5697:Mrgprb3	UTSW	7	48642925	missense	probably damaging	0.96
R5725:Mrgprb3	UTSW	7	48643800	start codon destroyed	probably null	0.02
R5758:Mrgprb3	UTSW	7	48643319	missense	probably benign	0.01
R5807:Mrgprb3	UTSW	7	48643362	missense	probably benign	0.02
R5908:Mrgprb3	UTSW	7	48643618	missense	probably damaging	0.98
R6902:Mrgprb3	UTSW	7	48643699	missense	probably benign	0.02
R7037:Mrgprb3	UTSW	7	48643194	missense	probably damaging	1.00
R7288:Mrgprb3	UTSW	7	48643311	missense	probably damaging	1.00
R7605:Mrgprb3	UTSW	7	48643114	missense	probably benign	0.01
R8246:Mrgprb3	UTSW	7	48643520	missense	probably benign	0.02
R8292:Mrgprb3	UTSW	7	48643507	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGAATCTGCTGTGATCCAC -3'
(R):5'- CTACATCCTCAACCTGGCTGTG -3'

Sequencing Primer
(F):5'- AGGAGATCCTGAGGAGCAG -3'
(R):5'- CAACCTGGCTGTGGCTGATTTTC -3'

Posted On

2016-11-08