Mutagenetix > Incidental Mutation

Incidental Mutation 'R8792:Gpr146'

670992

Institutional Source

Beutler Lab

Gene Symbol

Gpr146

Ensembl Gene

ENSMUSG00000044197

Gene Name

G protein-coupled receptor 146

Synonyms

PGR8

MMRRC Submission

068635-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139363452-139382170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139378549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 117 (Y117C)

Ref Sequence

ENSEMBL: ENSMUSP00000049707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051293] [ENSMUST00000066052] [ENSMUST00000100514] [ENSMUST00000138631] [ENSMUST00000198474]

AlphaFold

Q99LE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000051293
AA Change: Y117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049707
Gene: ENSMUSG00000044197
AA Change: Y117C

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
Pfam:7tm_1	43	294	2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066052

SMART Domains

Protein: ENSMUSP00000069230
Gene: ENSMUSG00000053553

Domain	Start	End	E-Value	Type
low complexity region	54	77	N/A	INTRINSIC
Pfam:DUF2373	103	165	3e-26	PFAM
low complexity region	184	194	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100514
AA Change: Y117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098083
Gene: ENSMUSG00000044197
AA Change: Y117C

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
Pfam:7tm_1	43	294	1.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138631

SMART Domains

Protein: ENSMUSP00000119464
Gene: ENSMUSG00000044197

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	26	80	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198474

SMART Domains

Protein: ENSMUSP00000142949
Gene: ENSMUSG00000053553

Domain	Start	End	E-Value	Type
low complexity region	54	77	N/A	INTRINSIC
Pfam:DUF2373	102	141	9e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	T	C	15: 81,793,697 (GRCm39)	I382T	probably damaging	Het
Adam39	G	T	8: 41,279,613 (GRCm39)	R668L	probably benign	Het
Adam6b	T	C	12: 113,455,310 (GRCm39)	I709T	possibly damaging	Het
Adgrl3	A	G	5: 81,836,522 (GRCm39)	E692G	probably damaging	Het
Asxl2	T	C	12: 3,546,536 (GRCm39)	L440P	probably benign	Het
Atosb	G	A	4: 43,033,546 (GRCm39)	P536S	probably damaging	Het
Bmf	A	G	2: 118,377,386 (GRCm39)	F121L	probably damaging	Het
Cblif	C	A	19: 11,727,599 (GRCm39)	A141E	probably damaging	Het
Cdk9	A	T	2: 32,598,269 (GRCm39)	F262L	probably benign	Het
Clock	T	A	5: 76,410,574 (GRCm39)	D99V	probably damaging	Het
Dnah14	A	T	1: 181,642,189 (GRCm39)	T102S		Het
Eps15	T	C	4: 109,162,908 (GRCm39)	V67A	probably benign	Het
Fam171b	T	A	2: 83,643,103 (GRCm39)	L4H	probably damaging	Het
Fcho2	T	A	13: 98,951,769 (GRCm39)		probably benign	Het
Gal3st4	C	T	5: 138,269,251 (GRCm39)	V70M	probably damaging	Het
Garin2	C	T	12: 78,761,924 (GRCm39)	T196M	probably damaging	Het
Got1l1	C	A	8: 27,690,749 (GRCm39)		probably null	Het
Gpr158	G	A	2: 21,558,137 (GRCm39)	V346M	probably damaging	Het
Herc1	C	A	9: 66,372,768 (GRCm39)	P3108Q	probably damaging	Het
Hoxc9	A	G	15: 102,890,226 (GRCm39)	S48G	probably benign	Het
I830077J02Rik	T	C	3: 105,835,104 (GRCm39)		probably benign	Het
Ift70a1	C	A	2: 75,811,898 (GRCm39)	E62*	probably null	Het
Lama4	T	G	10: 38,924,048 (GRCm39)	I485M	probably benign	Het
Lrp4	C	T	2: 91,325,300 (GRCm39)	T1375I	possibly damaging	Het
Lrp6	T	C	6: 134,463,549 (GRCm39)	Y544C	probably damaging	Het
Man2b1	C	T	8: 85,821,773 (GRCm39)	Q692*	probably null	Het
Mark2	G	T	19: 7,258,580 (GRCm39)	H570N	probably benign	Het
Mlph	T	C	1: 90,870,682 (GRCm39)		probably benign	Het
Mnx1	G	A	5: 29,683,372 (GRCm39)		probably benign	Het
Nkx2-2	A	T	2: 147,019,813 (GRCm39)	V208E	probably benign	Het
Nlrp1b	T	C	11: 71,050,919 (GRCm39)	I1058V	probably benign	Het
Nwd2	T	C	5: 63,963,047 (GRCm39)	I877T	probably damaging	Het
Olfml2b	A	T	1: 170,508,669 (GRCm39)	N509I	possibly damaging	Het
Or1e27-ps1	T	C	11: 73,555,471 (GRCm39)	L12P	probably damaging	Het
Or4c121	T	C	2: 89,024,231 (GRCm39)	Y49C	probably benign	Het
Or4f14b	G	C	2: 111,775,073 (GRCm39)	H243D	probably damaging	Het
Pabpc6	T	C	17: 9,888,332 (GRCm39)	N73S	probably damaging	Het
Parp12	A	G	6: 39,065,984 (GRCm39)	F580L	probably benign	Het
Parvg	C	A	15: 84,213,160 (GRCm39)	H80Q	probably damaging	Het
Pcdhb14	T	C	18: 37,582,541 (GRCm39)	V549A	probably damaging	Het
Pde8b	T	A	13: 95,179,534 (GRCm39)	H374L	probably benign	Het
Pgap4	T	C	4: 49,587,067 (GRCm39)	T34A	possibly damaging	Het
Phf2	C	T	13: 48,970,981 (GRCm39)		probably benign	Het
Pld4	T	C	12: 112,729,924 (GRCm39)	F69L	probably benign	Het
Qrich2	T	C	11: 116,347,456 (GRCm39)	I1123V	unknown	Het
Rida	C	T	15: 34,495,242 (GRCm39)	V8M	possibly damaging	Het
Rnf19b	T	A	4: 128,952,478 (GRCm39)	C139S	probably damaging	Het
Rp1	T	C	1: 4,095,091 (GRCm39)	I1254M	unknown	Het
Rpl3l	A	G	17: 24,947,447 (GRCm39)	T2A	possibly damaging	Het
Serpinb6e	A	T	13: 34,022,942 (GRCm39)	I147N	possibly damaging	Het
Slc12a4	G	A	8: 106,673,390 (GRCm39)	T727I	probably damaging	Het
Slc25a16	C	T	10: 62,764,119 (GRCm39)	R59*	probably null	Het
Strc	T	A	2: 121,208,286 (GRCm39)	I362F	probably damaging	Het
Tbc1d5	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	17: 51,106,962 (GRCm39)		probably benign	Het
Tll1	T	A	8: 64,538,499 (GRCm39)	T382S	probably damaging	Het
Tmprss6	T	A	15: 78,328,328 (GRCm39)	D556V	probably damaging	Het
Ttc13	A	G	8: 125,401,099 (GRCm39)		probably null	Het
Usp43	T	A	11: 67,767,244 (GRCm39)	K709*	probably null	Het
Vcan	A	T	13: 89,840,230 (GRCm39)	N1771K	possibly damaging	Het
Zfyve16	T	C	13: 92,659,669 (GRCm39)	I81V	probably benign	Het
Zxdc	A	G	6: 90,346,986 (GRCm39)	T116A	probably benign	Het

Other mutations in Gpr146

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01355:Gpr146	APN	5	139,364,659 (GRCm39)	intron	probably benign
IGL02152:Gpr146	APN	5	139,378,467 (GRCm39)	missense	probably damaging	1.00
IGL02369:Gpr146	APN	5	139,378,443 (GRCm39)	missense	probably benign	0.00
IGL02392:Gpr146	APN	5	139,378,533 (GRCm39)	missense	probably damaging	0.99
IGL02828:Gpr146	APN	5	139,378,576 (GRCm39)	missense	probably damaging	0.97
IGL03095:Gpr146	APN	5	139,378,705 (GRCm39)	missense	probably benign	0.11
R0360:Gpr146	UTSW	5	139,364,933 (GRCm39)	intron	probably benign
R0364:Gpr146	UTSW	5	139,364,933 (GRCm39)	intron	probably benign
R0746:Gpr146	UTSW	5	139,378,977 (GRCm39)	missense	probably damaging	1.00
R1446:Gpr146	UTSW	5	139,379,177 (GRCm39)	missense	probably benign	0.00
R1507:Gpr146	UTSW	5	139,379,124 (GRCm39)	missense	probably benign
R1758:Gpr146	UTSW	5	139,379,137 (GRCm39)	missense	probably benign	0.34
R2032:Gpr146	UTSW	5	139,364,902 (GRCm39)	intron	probably benign
R6513:Gpr146	UTSW	5	139,378,573 (GRCm39)	missense	probably damaging	1.00
R6797:Gpr146	UTSW	5	139,378,795 (GRCm39)	missense	possibly damaging	0.79
R7830:Gpr146	UTSW	5	139,378,357 (GRCm39)	missense	probably benign	0.02
R7977:Gpr146	UTSW	5	139,378,440 (GRCm39)	missense	possibly damaging	0.53
R7987:Gpr146	UTSW	5	139,378,440 (GRCm39)	missense	possibly damaging	0.53
R8225:Gpr146	UTSW	5	139,378,371 (GRCm39)	missense	probably benign	0.03
R9354:Gpr146	UTSW	5	139,378,366 (GRCm39)	missense	probably benign	0.00
X0064:Gpr146	UTSW	5	139,364,664 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- AATGCTCTTCTGGTGCTGGC -3'
(R):5'- ACTCAGCGATTCTAGAAGACACG -3'

Sequencing Primer
(F):5'- TTCTGGTGCTGGCCAACCTG -3'
(R):5'- TTCTAGAAGACACGTGACTGC -3'

Posted On

2021-04-30