Mutagenetix > Incidental Mutation

Incidental Mutation 'R9449:Gpr161'

714107

Institutional Source

Beutler Lab

Gene Symbol

Gpr161

Ensembl Gene

ENSMUSG00000040836

Gene Name

G protein-coupled receptor 161

Synonyms

vl, LOC240888

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

165123358-165154314 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 165146389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 442 (K442*)

Ref Sequence

ENSEMBL: ENSMUSP00000136621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111450] [ENSMUST00000178700]

AlphaFold

B2RPY5

Predicted Effect

probably null
Transcript: ENSMUST00000111450
AA Change: K425*

SMART Domains

Protein: ENSMUSP00000107077
Gene: ENSMUSG00000040836
AA Change: K425*

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	48	261	1.1e-6	PFAM
Pfam:7tm_1	57	337	3e-47	PFAM
low complexity region	476	489	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000178700
AA Change: K442*

SMART Domains

Protein: ENSMUSP00000136621
Gene: ENSMUSG00000040836
AA Change: K442*

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	63	273	1.5e-7	PFAM
Pfam:7tm_1	72	352	9.2e-48	PFAM
low complexity region	491	504	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Upon ligand binding, G protein-coupled receptors, such as GPR161, activate cytoplasmic G proteins (see GNAS, MIM 139320), allowing the receptors to transduce extracellular signals across the plasma membrane into the cell. Phosphorylation of the receptor attenuates signaling (Matteson et al., 2008 [PubMed 18250320]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for a null mutation display complete embryonic lethality during organogenesis, extensive craniofacial abnormalities, ventralization of the neural tube with expansion of the floor plate, absence of limb development, and caudal spina bifida. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aarsd1	A	C	11: 101,301,597 (GRCm39)	S262A	probably benign	Het
Abhd17c	A	G	7: 83,763,637 (GRCm39)	Y189H	probably damaging	Het
Adam33	T	C	2: 130,895,606 (GRCm39)	R570G	possibly damaging	Het
Alpk2	G	A	18: 65,424,464 (GRCm39)	R1441W	probably damaging	Het
Arhgap21	A	G	2: 20,885,464 (GRCm39)	V581A	probably benign	Het
Bcat2	T	C	7: 45,234,980 (GRCm39)	V226A	possibly damaging	Het
Cdh10	A	G	15: 19,013,521 (GRCm39)	N707S	possibly damaging	Het
Chd9	T	C	8: 91,659,174 (GRCm39)	F45L	unknown	Het
Clec1a	T	C	6: 129,428,606 (GRCm39)	T25A	probably benign	Het
Cps1	T	C	1: 67,259,671 (GRCm39)	F1338L	probably damaging	Het
Cthrc1	A	G	15: 38,947,868 (GRCm39)	T196A	probably benign	Het
Ctsm	A	T	13: 61,686,299 (GRCm39)	V228D	probably damaging	Het
Dennd3	A	T	15: 73,429,477 (GRCm39)	D920V	probably damaging	Het
Dnah17	A	G	11: 117,987,452 (GRCm39)	I1286T	probably benign	Het
Dnah3	T	A	7: 119,551,473 (GRCm39)	T2949S	probably benign	Het
Dram1	C	T	10: 88,192,703 (GRCm39)	V28M	probably benign	Het
Eml5	A	G	12: 98,827,554 (GRCm39)	Y559H	probably damaging	Het
Ermard	C	T	17: 15,273,554 (GRCm39)	R380C	possibly damaging	Het
Fam181a	A	G	12: 103,282,107 (GRCm39)	D4G	probably damaging	Het
Gabrd	C	A	4: 155,472,803 (GRCm39)	V127L	probably damaging	Het
Galnt12	T	A	4: 47,104,163 (GRCm39)	Y140*	probably null	Het
Haus6	A	T	4: 86,513,665 (GRCm39)	N332K	probably benign	Het
Igsf3	T	A	3: 101,358,322 (GRCm39)	Y738N	probably damaging	Het
Itsn1	T	A	16: 91,625,264 (GRCm39)	*622R	probably null	Het
Kcna2	T	A	3: 107,012,887 (GRCm39)	Y489*	probably null	Het
Limk1	A	G	5: 134,701,864 (GRCm39)		probably null	Het
Manba	A	T	3: 135,255,079 (GRCm39)	D479V	probably benign	Het
Myh6	A	T	14: 55,189,779 (GRCm39)	I1089N	possibly damaging	Het
Npas4	T	A	19: 5,038,492 (GRCm39)	D142V	probably damaging	Het
Nr4a1	T	C	15: 101,168,053 (GRCm39)	F30L	probably benign	Het
Numbl	C	T	7: 26,976,327 (GRCm39)	R336C		Het
Or10x4	G	A	1: 174,218,742 (GRCm39)	A36T	probably benign	Het
Or5p4	T	C	7: 107,680,040 (GRCm39)	I13T		Het
Parp9	T	C	16: 35,777,234 (GRCm39)	S393P	probably damaging	Het
Pcdha11	A	G	18: 37,145,484 (GRCm39)	E525G	probably damaging	Het
Pdia2	T	C	17: 26,416,174 (GRCm39)	T298A	probably benign	Het
Per3	G	A	4: 151,094,945 (GRCm39)	T946I	probably benign	Het
Pla2r1	A	T	2: 60,258,902 (GRCm39)	V1162D	probably damaging	Het
Plxnd1	T	A	6: 115,932,730 (GRCm39)	N1917Y	probably damaging	Het
Pole3	A	T	4: 62,442,277 (GRCm39)	D114E	unknown	Het
Ppil3	T	C	1: 58,470,397 (GRCm39)	D151G	probably benign	Het
Psd3	A	T	8: 68,165,833 (GRCm39)	M365K	unknown	Het
Psme2b	T	G	11: 48,836,566 (GRCm39)	H127P	probably damaging	Het
Ric8a	C	G	7: 140,437,393 (GRCm39)	R4G	probably benign	Het
Rock2	A	T	12: 17,027,763 (GRCm39)	D1360V	probably damaging	Het
Simc1	A	G	13: 54,674,192 (GRCm39)	T847A	probably benign	Het
Slc12a1	T	A	2: 125,028,144 (GRCm39)	V480E	probably damaging	Het
Slc32a1	T	C	2: 158,456,241 (GRCm39)	F299L	probably benign	Het
Slc44a2	A	G	9: 21,258,333 (GRCm39)	Y500C		Het
Ssbp2	A	G	13: 91,823,157 (GRCm39)	D192G	probably benign	Het
Stat5b	T	C	11: 100,681,674 (GRCm39)	K527E	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Usp50	A	G	2: 126,619,817 (GRCm39)		probably null	Het
Vegfc	A	T	8: 54,610,053 (GRCm39)	M70L	probably benign	Het
Vmn1r40	A	G	6: 89,691,854 (GRCm39)	T224A	probably benign	Het
Vmn2r116	A	G	17: 23,605,919 (GRCm39)	D277G	probably benign	Het
Vti1a	T	A	19: 55,612,278 (GRCm39)	I197N	possibly damaging	Het
Zfyve9	C	A	4: 108,576,435 (GRCm39)	L215F	probably damaging	Het
Znrf3	A	T	11: 5,288,710 (GRCm39)	Y19*	probably null	Het

Other mutations in Gpr161

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Gpr161	APN	1	165,146,372 (GRCm39)	missense	probably benign
IGL01090:Gpr161	APN	1	165,134,149 (GRCm39)	missense	probably damaging	1.00
IGL01151:Gpr161	APN	1	165,149,078 (GRCm39)	missense	probably damaging	1.00
IGL01763:Gpr161	APN	1	165,144,820 (GRCm39)	missense	probably benign	0.09
IGL03206:Gpr161	APN	1	165,149,218 (GRCm39)	missense	probably damaging	1.00
IGL03279:Gpr161	APN	1	165,138,098 (GRCm39)	missense	probably damaging	1.00
IGL03378:Gpr161	APN	1	165,138,077 (GRCm39)	missense	probably damaging	0.99
IGL03147:Gpr161	UTSW	1	165,144,877 (GRCm39)	missense	probably benign	0.30
R0367:Gpr161	UTSW	1	165,144,805 (GRCm39)	splice site	probably benign
R1827:Gpr161	UTSW	1	165,134,136 (GRCm39)	missense	possibly damaging	0.94
R1970:Gpr161	UTSW	1	165,133,927 (GRCm39)	missense	probably damaging	0.97
R1991:Gpr161	UTSW	1	165,134,132 (GRCm39)	missense	probably damaging	0.98
R2425:Gpr161	UTSW	1	165,138,192 (GRCm39)	missense	possibly damaging	0.83
R4805:Gpr161	UTSW	1	165,134,029 (GRCm39)	missense	probably damaging	1.00
R5416:Gpr161	UTSW	1	165,149,030 (GRCm39)	missense	probably benign	0.00
R5546:Gpr161	UTSW	1	165,133,982 (GRCm39)	missense	possibly damaging	0.88
R5547:Gpr161	UTSW	1	165,133,982 (GRCm39)	missense	possibly damaging	0.88
R5824:Gpr161	UTSW	1	165,138,560 (GRCm39)	missense	possibly damaging	0.94
R6152:Gpr161	UTSW	1	165,137,864 (GRCm39)	missense	possibly damaging	0.58
R6658:Gpr161	UTSW	1	165,134,136 (GRCm39)	missense	possibly damaging	0.50
R6924:Gpr161	UTSW	1	165,149,188 (GRCm39)	missense	possibly damaging	0.83
R7128:Gpr161	UTSW	1	165,138,026 (GRCm39)	missense	possibly damaging	0.92
R7216:Gpr161	UTSW	1	165,134,115 (GRCm39)	missense	probably benign	0.22
R7540:Gpr161	UTSW	1	165,146,404 (GRCm39)	missense	probably damaging	1.00
R8171:Gpr161	UTSW	1	165,134,005 (GRCm39)	missense	probably damaging	0.98
R9053:Gpr161	UTSW	1	165,134,166 (GRCm39)	splice site	probably benign
R9076:Gpr161	UTSW	1	165,133,757 (GRCm39)	missense	possibly damaging	0.49
R9259:Gpr161	UTSW	1	165,138,025 (GRCm39)	missense	probably damaging	1.00
R9469:Gpr161	UTSW	1	165,133,896 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- GCAGCTGGACATGCTTTTGG -3'
(R):5'- ACCTTGGATGCTGCTTGCTATG -3'

Sequencing Primer
(F):5'- ACATGCTTTTGGTATTGAAGGCTC -3'
(R):5'- AGATGCCTCAAGTATCCCTAGTGG -3'

Posted On

2022-06-15