Mutagenetix > Incidental Mutation

Incidental Mutation 'R2853:Gpr62'

252407

Institutional Source

Beutler Lab

Gene Symbol

Gpr62

Ensembl Gene

ENSMUSG00000091735

Gene Name

G protein-coupled receptor 62

Synonyms

4933402E03Rik

MMRRC Submission

040446-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R2853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106341161-106343137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106341911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 339 (E339G)

Ref Sequence

ENSEMBL: ENSMUSP00000129055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024260] [ENSMUST00000164834] [ENSMUST00000185507] [ENSMUST00000185779] [ENSMUST00000185874] [ENSMUST00000215656] [ENSMUST00000216379] [ENSMUST00000188396] [ENSMUST00000189099] [ENSMUST00000190428] [ENSMUST00000214252] [ENSMUST00000190430] [ENSMUST00000213156]

AlphaFold

Q80UC6

Predicted Effect

probably benign
Transcript: ENSMUST00000024260

SMART Domains

Protein: ENSMUSP00000024260
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	4.15e-14	SMART
KH	100	171	1.47e-14	SMART
KH	240	310	3.24e-16	SMART
low complexity region	327	349	N/A	INTRINSIC
low complexity region	364	381	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164834
AA Change: E339G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129055
Gene: ENSMUSG00000091735
AA Change: E339G

Domain	Start	End	E-Value	Type
Pfam:7tm_1	31	286	1.1e-16	PFAM
low complexity region	294	311	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185507

SMART Domains

Protein: ENSMUSP00000140660
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	2	65	2.4e-10	SMART
low complexity region	117	131	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185779

SMART Domains

Protein: ENSMUSP00000140629
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	2.6e-16	SMART
KH	100	171	9.3e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185854

Predicted Effect

probably benign
Transcript: ENSMUST00000185874

SMART Domains

Protein: ENSMUSP00000141057
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	2.6e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190799

Predicted Effect

probably benign
Transcript: ENSMUST00000215656

Predicted Effect

probably benign
Transcript: ENSMUST00000216379

Predicted Effect

probably benign
Transcript: ENSMUST00000188396

SMART Domains

Protein: ENSMUSP00000139771
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
Blast:KH	1	41	2e-19	BLAST
KH	61	122	1.7e-7	SMART
low complexity region	139	161	N/A	INTRINSIC
low complexity region	176	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189099

SMART Domains

Protein: ENSMUSP00000139991
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
Pfam:KH_1	33	77	1.3e-9	PFAM
Pfam:KH_3	36	77	3.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190428

SMART Domains

Protein: ENSMUSP00000139587
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
PDB:2JZX\|A	1	33	1e-8	PDB
Blast:KH	30	80	3e-26	BLAST
KH	100	167	2e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213201

Predicted Effect

probably benign
Transcript: ENSMUST00000214252

Predicted Effect

probably benign
Transcript: ENSMUST00000190430

SMART Domains

Protein: ENSMUSP00000140485
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	2.6e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213752

Predicted Effect

probably benign
Transcript: ENSMUST00000213156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217405

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	C	16: 8,418,832 (GRCm39)	K142T	probably damaging	Het
Als2cl	T	C	9: 110,723,203 (GRCm39)	S636P	probably damaging	Het
Angptl7	T	C	4: 148,584,736 (GRCm39)	E4G	probably benign	Het
Aph1c	T	C	9: 66,741,764 (GRCm39)		probably null	Het
Arhgap23	T	C	11: 97,383,420 (GRCm39)		probably null	Het
Arhgef4	A	C	1: 34,763,129 (GRCm39)	D795A	unknown	Het
Atosb	A	G	4: 43,036,293 (GRCm39)	L146P	probably benign	Het
Ccdc85a	A	G	11: 28,342,942 (GRCm39)		probably benign	Het
Chchd1	T	C	14: 20,754,288 (GRCm39)	S67P	probably benign	Het
Cubn	C	T	2: 13,435,645 (GRCm39)	V1104I	probably benign	Het
Dennd5a	A	T	7: 109,532,878 (GRCm39)	N297K	probably damaging	Het
Dnai4	T	C	4: 102,907,355 (GRCm39)	I644V	possibly damaging	Het
Egflam	A	T	15: 7,249,182 (GRCm39)	W879R	probably damaging	Het
Far1	T	C	7: 113,152,944 (GRCm39)	Y351H	possibly damaging	Het
Hspd1	A	T	1: 55,120,256 (GRCm39)	D315E	probably damaging	Het
Ids	G	T	X: 69,396,776 (GRCm39)	T329K	probably damaging	Het
Itga9	G	A	9: 118,465,604 (GRCm39)	E153K	probably damaging	Het
Krt82	T	C	15: 101,456,870 (GRCm39)	Y170C	probably damaging	Het
Megf10	T	C	18: 57,427,003 (GRCm39)	I1107T	probably damaging	Het
Mre11a	A	G	9: 14,737,843 (GRCm39)	E599G	probably benign	Het
Mtm1	T	G	X: 70,345,389 (GRCm39)	I437S	probably damaging	Het
Ncoa2	C	T	1: 13,257,113 (GRCm39)	V129I	probably damaging	Het
Ncs1	T	C	2: 31,177,329 (GRCm39)	F169L	probably damaging	Het
Ndst2	T	C	14: 20,779,964 (GRCm39)	E92G	probably damaging	Het
Parm1	T	C	5: 91,742,124 (GRCm39)	V164A	probably benign	Het
Pkhd1	T	C	1: 20,128,526 (GRCm39)	Q4059R	probably benign	Het
Scgb1b20	A	C	7: 33,072,949 (GRCm39)	K52N	possibly damaging	Het
Setbp1	T	A	18: 78,967,211 (GRCm39)	Q171L	probably benign	Het
Sik2	A	T	9: 50,809,597 (GRCm39)	L612Q	probably damaging	Het
Srprb	G	A	9: 103,076,038 (GRCm39)	Q800*	probably null	Het
Ss18l1	A	G	2: 179,699,914 (GRCm39)	Y258C	probably damaging	Het
Togaram1	A	G	12: 65,063,386 (GRCm39)	K1567R	probably benign	Het
Ttc6	T	C	12: 57,622,967 (GRCm39)	F122S	probably damaging	Het
Vmn2r85	T	A	10: 130,255,035 (GRCm39)	M550L	probably benign	Het

Other mutations in Gpr62

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2851:Gpr62	UTSW	9	106,341,911 (GRCm39)	missense	probably benign	0.00
R3982:Gpr62	UTSW	9	106,342,085 (GRCm39)	missense	probably benign	0.00
R5887:Gpr62	UTSW	9	106,342,814 (GRCm39)	missense	probably damaging	1.00
R7159:Gpr62	UTSW	9	106,342,641 (GRCm39)	missense	probably damaging	0.99
Z1177:Gpr62	UTSW	9	106,342,688 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTGAGTACAGGATCAGGTTCC -3'
(R):5'- TACTGTCACCTGGGTAGCCTAC -3'

Sequencing Primer
(F):5'- GGATCAGGTTCCTGAGAAAACCTC -3'
(R):5'- TGGGTAGCCTACTCCGC -3'

Posted On

2014-12-04