Mutagenetix > Incidental Mutation

Incidental Mutation 'R4466:Gpr21'

330329

Institutional Source

Beutler Lab

Gene Symbol

Gpr21

Ensembl Gene

ENSMUSG00000053164

Gene Name

G protein-coupled receptor 21

Synonyms

C230004C13Rik

MMRRC Submission

041723-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R4466 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37406638-37409293 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37407570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 39 (T39A)

Ref Sequence

ENSEMBL: ENSMUSP00000066449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061179] [ENSMUST00000065441] [ENSMUST00000066055] [ENSMUST00000112920] [ENSMUST00000183690]

AlphaFold

Q8BX79

Predicted Effect

probably benign
Transcript: ENSMUST00000061179

SMART Domains

Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
PTB	138	271	2.99e-30	SMART
Pfam:DUF3694	301	433	1.1e-38	PFAM
low complexity region	449	460	N/A	INTRINSIC
low complexity region	473	481	N/A	INTRINSIC
low complexity region	502	516	N/A	INTRINSIC
TBC	558	770	9.27e-74	SMART
Blast:TBC	803	880	9e-33	BLAST
coiled coil region	986	1038	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000065441
AA Change: T39A

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000066449
Gene: ENSMUSG00000053164
AA Change: T39A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	34	239	4.8e-7	PFAM
Pfam:7tm_4	34	307	3.3e-9	PFAM
Pfam:7tm_1	45	304	9.4e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066055

SMART Domains

Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
PTB	138	271	2.99e-30	SMART
Pfam:DUF3694	301	433	7.1e-39	PFAM
low complexity region	449	460	N/A	INTRINSIC
low complexity region	473	481	N/A	INTRINSIC
low complexity region	502	516	N/A	INTRINSIC
TBC	558	770	9.27e-74	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112920

SMART Domains

Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
PTB	138	271	2.99e-30	SMART
Pfam:DUF3694	301	432	1.6e-35	PFAM
low complexity region	449	460	N/A	INTRINSIC
low complexity region	473	481	N/A	INTRINSIC
low complexity region	502	516	N/A	INTRINSIC
TBC	558	770	9.27e-74	SMART
Blast:TBC	803	880	9e-33	BLAST
coiled coil region	986	1038	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159737

Predicted Effect

probably benign
Transcript: ENSMUST00000183690

SMART Domains

Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915

Domain	Start	End	E-Value	Type
DZF	81	334	2.45e-168	SMART
DSRM	388	452	3.11e-16	SMART
low complexity region	474	497	N/A	INTRINSIC
DSRM	511	575	1.2e-22	SMART
low complexity region	578	593	N/A	INTRINSIC
low complexity region	608	618	N/A	INTRINSIC

Meta Mutation Damage Score

0.0722

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein-coupled receptor 1 family. G-protein coupled receptors are membrane proteins which activate signaling cascades as a response to extracellular stress. The encoded protein activates a Gq signal transduction pathway which mobilizes calcium. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a targeted allele exhibit improved glucose tolerance, insulin response and resistance to diet-induced obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	A	T	3: 59,745,887 (GRCm39)		noncoding transcript	Het
Adgra1	T	A	7: 139,420,752 (GRCm39)		probably benign	Het
Akap13	T	A	7: 75,252,521 (GRCm39)		probably null	Het
Amn1	T	C	6: 149,068,343 (GRCm39)		probably null	Het
Ano5	T	A	7: 51,220,023 (GRCm39)	F374I	probably damaging	Het
Apol7c	T	C	15: 77,410,664 (GRCm39)	E94G	probably benign	Het
Arid4b	A	T	13: 14,307,095 (GRCm39)	S117C	probably damaging	Het
Atm	C	A	9: 53,359,469 (GRCm39)	E2778*	probably null	Het
Cped1	A	T	6: 22,123,651 (GRCm39)	Q468L	probably benign	Het
Crygb	A	G	1: 65,119,645 (GRCm39)	S112P	probably damaging	Het
Eeig2	T	A	3: 108,887,124 (GRCm39)	R291S	probably benign	Het
Eml4	C	T	17: 83,729,103 (GRCm39)	Q93*	probably null	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fhad1	A	T	4: 141,684,969 (GRCm39)	S457T	probably damaging	Het
Frmd4b	A	G	6: 97,300,614 (GRCm39)		probably null	Het
Gm5134	G	C	10: 75,844,409 (GRCm39)	K588N	probably benign	Het
Irx1	C	A	13: 72,108,101 (GRCm39)	G194W	probably damaging	Het
Itgal	C	T	7: 126,927,684 (GRCm39)	T992I	possibly damaging	Het
Itpr3	T	C	17: 27,325,316 (GRCm39)	L1303P	probably damaging	Het
Kdm2a	A	T	19: 4,370,328 (GRCm39)	D1052E	probably damaging	Het
Klhl6	T	C	16: 19,776,018 (GRCm39)	D180G	probably damaging	Het
M6pr	A	G	6: 122,290,228 (GRCm39)	T64A	probably benign	Het
Mrpl47	G	A	3: 32,784,240 (GRCm39)	R177*	probably null	Het
Mtfr2	A	G	10: 20,224,159 (GRCm39)	Y31C	probably damaging	Het
Mup6	T	C	4: 60,004,000 (GRCm39)	I31T	probably damaging	Het
Oas2	A	G	5: 120,887,667 (GRCm39)	S58P	probably damaging	Het
Or1j11	A	T	2: 36,312,308 (GRCm39)	R299S	probably benign	Het
Or5b124	G	A	19: 13,610,801 (GRCm39)	E109K	probably damaging	Het
Or8b36	T	A	9: 37,937,479 (GRCm39)	C126S	probably damaging	Het
Polr1b	A	T	2: 128,965,802 (GRCm39)	I815L	probably benign	Het
Psma8	T	C	18: 14,854,231 (GRCm39)	I37T	possibly damaging	Het
Ryr3	T	C	2: 112,483,447 (GRCm39)	E4100G	possibly damaging	Het
Serpina3g	C	T	12: 104,204,182 (GRCm39)		probably benign	Het
Serpina3m	A	T	12: 104,357,874 (GRCm39)	Y266F	probably damaging	Het
Sez6l2	T	A	7: 126,559,023 (GRCm39)	D423E	probably damaging	Het
Sh3gl2	A	G	4: 85,299,688 (GRCm39)	E224G	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,353,146 (GRCm39)	V105A	possibly damaging	Het
Slc24a2	A	T	4: 87,146,099 (GRCm39)		probably benign	Het
Smyd2	A	G	1: 189,614,349 (GRCm39)	M393T	probably benign	Het
Sox8	C	A	17: 25,787,879 (GRCm39)	G190V	probably benign	Het
Stag2	A	G	X: 41,322,749 (GRCm39)	S400G	probably benign	Het
Stk35	C	A	2: 129,643,436 (GRCm39)	T140K	probably damaging	Het
Taf6	A	C	5: 138,179,463 (GRCm39)		probably benign	Het
Ten1	A	C	11: 116,095,823 (GRCm39)		probably benign	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Ttn	A	G	2: 76,544,044 (GRCm39)	F32981L	probably damaging	Het
Zik1	G	T	7: 10,224,893 (GRCm39)	T68K	probably benign	Het
Zzef1	T	A	11: 72,815,485 (GRCm39)	I2935N	probably damaging	Het

Other mutations in Gpr21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01510:Gpr21	APN	2	37,408,433 (GRCm39)	nonsense	probably null
IGL01877:Gpr21	APN	2	37,408,093 (GRCm39)	missense	probably benign	0.13
IGL03265:Gpr21	APN	2	37,408,086 (GRCm39)	missense	probably damaging	1.00
lasco	UTSW	2	37,407,556 (GRCm39)	missense	probably damaging	0.99
R0573:Gpr21	UTSW	2	37,407,556 (GRCm39)	missense	probably damaging	0.99
R1548:Gpr21	UTSW	2	37,408,084 (GRCm39)	missense	probably damaging	1.00
R1781:Gpr21	UTSW	2	37,407,550 (GRCm39)	missense	probably benign	0.00
R1922:Gpr21	UTSW	2	37,408,350 (GRCm39)	missense	probably damaging	0.99
R2011:Gpr21	UTSW	2	37,407,547 (GRCm39)	missense	probably damaging	1.00
R2144:Gpr21	UTSW	2	37,408,243 (GRCm39)	missense	probably benign	0.02
R3818:Gpr21	UTSW	2	37,408,324 (GRCm39)	missense	probably damaging	1.00
R3978:Gpr21	UTSW	2	37,407,862 (GRCm39)	missense	probably benign	0.23
R4412:Gpr21	UTSW	2	37,407,444 (GRCm39)	intron	probably benign
R6807:Gpr21	UTSW	2	37,407,974 (GRCm39)	nonsense	probably null
R9477:Gpr21	UTSW	2	37,408,386 (GRCm39)	missense	probably damaging	0.98
R9612:Gpr21	UTSW	2	37,408,399 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCACAGGCATGCAAAGCTG -3'
(R):5'- ATGGCCTCCTCAATCGGAAG -3'

Sequencing Primer
(F):5'- TAGCTGCTCCTGAGAACTGAGAC -3'
(R):5'- CCTCAATCGGAAGAGGGTAGTAG -3'

Posted On

2015-07-21