Mutagenetix > Incidental Mutation

Incidental Mutation 'R7938:Mrgprx2'

648866

Institutional Source

Beutler Lab

Gene Symbol

Mrgprx2

Ensembl Gene

ENSMUSG00000074109

Gene Name

MAS-related GPR, member X2

Synonyms

Mrgprb10, MrgB10

MMRRC Submission

045984-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R7938 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48128367-48149018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48132240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 193 (T193A)

Ref Sequence

ENSEMBL: ENSMUSP00000127022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098433] [ENSMUST00000186394]

AlphaFold

Q3UG50

Predicted Effect

probably benign
Transcript: ENSMUST00000098433
AA Change: T193A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000127022
Gene: ENSMUSG00000074109
AA Change: T193A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	50	230	4.6e-10	PFAM
Pfam:7tm_1	59	290	1e-6	PFAM
low complexity region	319	334	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186394

SMART Domains

Protein: ENSMUSP00000140945
Gene: ENSMUSG00000074109

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	11	50	1e-5	SMART
low complexity region	76	91	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Bcam	T	G	7: 19,490,738 (GRCm39)	E586D	probably benign	Het
Bmp7	A	C	2: 172,721,283 (GRCm39)	I264S	probably benign	Het
Casz1	G	A	4: 149,028,943 (GRCm39)	M1129I	probably benign	Het
Ccdc59	T	A	10: 105,677,455 (GRCm39)	N31K	probably benign	Het
Cfap61	A	G	2: 145,887,376 (GRCm39)	Y607C	probably benign	Het
Cnga1	T	C	5: 72,761,597 (GRCm39)	E639G	probably benign	Het
Coch	T	A	12: 51,643,366 (GRCm39)		probably null	Het
Col6a6	A	C	9: 105,657,883 (GRCm39)	Y776*	probably null	Het
Cyp1a1	T	G	9: 57,609,073 (GRCm39)	L318R	probably damaging	Het
Cyp3a16	T	A	5: 145,389,666 (GRCm39)	Y233F	probably benign	Het
Dgkz	G	T	2: 91,795,817 (GRCm39)	R42S	probably damaging	Het
Dner	A	G	1: 84,673,218 (GRCm39)	Y78H	possibly damaging	Het
Fat2	T	C	11: 55,163,922 (GRCm39)	N3111S	probably damaging	Het
Frmpd2	T	C	14: 33,260,246 (GRCm39)	S768P	probably benign	Het
Gm45861	T	A	8: 28,071,990 (GRCm39)	N1269K	unknown	Het
Gpr12	T	A	5: 146,520,094 (GRCm39)	Y276F	possibly damaging	Het
Hace1	C	T	10: 45,562,792 (GRCm39)	P769L	probably benign	Het
Hapln1	G	A	13: 89,753,347 (GRCm39)	R171H	probably damaging	Het
Hlx	T	G	1: 184,464,125 (GRCm39)	T72P	probably benign	Het
Iqcm	G	T	8: 76,304,596 (GRCm39)	C119F	probably benign	Het
Katna1	G	T	10: 7,637,075 (GRCm39)	A409S	probably benign	Het
Kcnip2	A	T	19: 45,782,729 (GRCm39)	I204N	probably damaging	Het
Kel	G	T	6: 41,675,310 (GRCm39)	Q314K	probably benign	Het
Klf5	T	C	14: 99,536,444 (GRCm39)	V5A	probably damaging	Het
Lax1	A	T	1: 133,607,896 (GRCm39)	C282S	probably benign	Het
Lyar	A	G	5: 38,388,295 (GRCm39)	T274A	probably benign	Het
Mboat1	A	G	13: 30,415,959 (GRCm39)	H306R	possibly damaging	Het
Morn5	A	T	2: 35,947,082 (GRCm39)	Y120F	probably benign	Het
Myh10	T	A	11: 68,583,327 (GRCm39)	W8R	unknown	Het
Nfasc	A	G	1: 132,533,269 (GRCm39)	V644A	probably damaging	Het
Nup153	G	T	13: 46,842,855 (GRCm39)		probably null	Het
Nup50l	T	C	6: 96,141,866 (GRCm39)	K393E	possibly damaging	Het
Or1o4	T	A	17: 37,590,991 (GRCm39)	M107L	probably benign	Het
Or4x6	A	T	2: 89,949,173 (GRCm39)	Y256*	probably null	Het
Or5h19	A	T	16: 58,856,325 (GRCm39)	Y258*	probably null	Het
Orc4	A	T	2: 48,800,203 (GRCm39)	V315E	possibly damaging	Het
Pcsk5	T	A	19: 17,443,549 (GRCm39)		probably null	Het
Pif1	A	G	9: 65,502,073 (GRCm39)	D635G	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ppfia2	A	G	10: 106,310,648 (GRCm39)	T52A	probably damaging	Het
Ppp1r36	A	T	12: 76,485,180 (GRCm39)	D301V	probably damaging	Het
Prss46	A	G	9: 110,680,500 (GRCm39)	N215S	probably benign	Het
Qser1	A	C	2: 104,619,312 (GRCm39)	V410G	probably damaging	Het
Reln	A	C	5: 22,155,870 (GRCm39)	N2207K	probably damaging	Het
Rimkla	A	G	4: 119,327,810 (GRCm39)	V180A	probably benign	Het
Rpa1	CA	C	11: 75,198,050 (GRCm39)		probably null	Het
Rsph3a	G	T	17: 8,165,050 (GRCm39)	E137*	probably null	Het
Spata31f1a	A	G	4: 42,850,765 (GRCm39)	S464P	possibly damaging	Het
Sqle	C	A	15: 59,196,315 (GRCm39)	H369Q	probably damaging	Het
Srebf2	T	A	15: 82,057,016 (GRCm39)	D250E	probably damaging	Het
Svs3b	A	T	2: 164,097,567 (GRCm39)	C251*	probably null	Het
Tdrd9	A	T	12: 111,997,649 (GRCm39)	N713Y	possibly damaging	Het
Terf2ip	T	C	8: 112,738,717 (GRCm39)	S202P	possibly damaging	Het
Trank1	A	G	9: 111,194,096 (GRCm39)	T707A	probably benign	Het
Trav8-1	T	G	14: 53,707,688 (GRCm39)	D109E	possibly damaging	Het
Trem2	T	A	17: 48,658,777 (GRCm39)	S181T	probably benign	Het
Trim37	A	G	11: 87,037,863 (GRCm39)	N199S	probably benign	Het
Tshz3	T	C	7: 36,468,583 (GRCm39)	F191L	probably damaging	Het
Ubxn8	A	G	8: 34,111,712 (GRCm39)	M227T	probably damaging	Het
Uggt2	T	A	14: 119,296,519 (GRCm39)	I448F	possibly damaging	Het
Usp47	T	A	7: 111,687,132 (GRCm39)	L697M	probably damaging	Het
Vmn2r52	T	C	7: 9,893,300 (GRCm39)	D613G	probably benign	Het
Wdr81	T	C	11: 75,338,828 (GRCm39)	T1444A	probably benign	Het
Zfp423	T	C	8: 88,622,304 (GRCm39)	Y11C	unknown	Het
Zw10	T	A	9: 48,982,933 (GRCm39)	D521E	probably benign	Het

Other mutations in Mrgprx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Mrgprx2	APN	7	48,132,374 (GRCm39)	missense	probably damaging	1.00
IGL01655:Mrgprx2	APN	7	48,132,439 (GRCm39)	nonsense	probably null
IGL02052:Mrgprx2	APN	7	48,132,042 (GRCm39)	missense	possibly damaging	0.75
IGL02254:Mrgprx2	APN	7	48,132,686 (GRCm39)	missense	probably benign	0.16
IGL02985:Mrgprx2	APN	7	48,132,245 (GRCm39)	missense	probably damaging	0.98
R0026:Mrgprx2	UTSW	7	48,131,771 (GRCm39)	missense	possibly damaging	0.66
R0387:Mrgprx2	UTSW	7	48,148,908 (GRCm39)	start codon destroyed	probably null	0.98
R0514:Mrgprx2	UTSW	7	48,132,712 (GRCm39)	start codon destroyed	probably null
R0650:Mrgprx2	UTSW	7	48,132,666 (GRCm39)	missense	probably damaging	0.96
R1014:Mrgprx2	UTSW	7	48,132,306 (GRCm39)	splice site	probably null
R2011:Mrgprx2	UTSW	7	48,132,282 (GRCm39)	missense	probably damaging	0.96
R2224:Mrgprx2	UTSW	7	48,132,608 (GRCm39)	missense	probably benign	0.43
R4238:Mrgprx2	UTSW	7	48,132,738 (GRCm39)	missense	probably benign
R4846:Mrgprx2	UTSW	7	48,132,584 (GRCm39)	missense	probably damaging	1.00
R5385:Mrgprx2	UTSW	7	48,132,753 (GRCm39)	missense	probably benign	0.11
R5891:Mrgprx2	UTSW	7	48,131,994 (GRCm39)	missense	probably benign
R6490:Mrgprx2	UTSW	7	48,132,617 (GRCm39)	missense	probably damaging	1.00
R6576:Mrgprx2	UTSW	7	48,132,380 (GRCm39)	missense	probably damaging	1.00
R6934:Mrgprx2	UTSW	7	48,131,813 (GRCm39)	missense	possibly damaging	0.79
R6948:Mrgprx2	UTSW	7	48,132,464 (GRCm39)	missense	possibly damaging	0.52
R7944:Mrgprx2	UTSW	7	48,132,753 (GRCm39)	missense	probably benign	0.11
R7945:Mrgprx2	UTSW	7	48,132,753 (GRCm39)	missense	probably benign	0.11
R8221:Mrgprx2	UTSW	7	48,132,527 (GRCm39)	missense	probably benign	0.00
R8750:Mrgprx2	UTSW	7	48,131,778 (GRCm39)	missense	probably benign
R8782:Mrgprx2	UTSW	7	48,132,299 (GRCm39)	missense	probably damaging	0.98
R9015:Mrgprx2	UTSW	7	48,148,938 (GRCm39)	unclassified	probably benign
X0027:Mrgprx2	UTSW	7	48,132,246 (GRCm39)	missense	probably damaging	1.00
X0063:Mrgprx2	UTSW	7	48,132,546 (GRCm39)	missense	probably benign	0.04
Z1176:Mrgprx2	UTSW	7	48,132,090 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCCATAGGGCAGACCAAAG -3'
(R):5'- GACATTGATTCCATCCCCATTG -3'

Sequencing Primer
(F):5'- GAGCAGGAAAACAAGCACTGTG -3'
(R):5'- TGAGTATCCTCAGTGCTATTAGC -3'

Posted On

2020-09-15