Incidental Mutation 'R4805:Gpr161'
ID 370599
Institutional Source Beutler Lab
Gene Symbol Gpr161
Ensembl Gene ENSMUSG00000040836
Gene Name G protein-coupled receptor 161
Synonyms vl, LOC240888
MMRRC Submission 041999-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4805 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 165123358-165154314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 165134029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 97 (L97Q)
Ref Sequence ENSEMBL: ENSMUSP00000136621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111450] [ENSMUST00000178700]
AlphaFold B2RPY5
Predicted Effect probably damaging
Transcript: ENSMUST00000111450
AA Change: L80Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107077
Gene: ENSMUSG00000040836
AA Change: L80Q

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000178700
AA Change: L97Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136621
Gene: ENSMUSG00000040836
AA Change: L97Q

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.7869 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 99% (69/70)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,950,628 (GRCm39) Y1508* probably null Het
4931414P19Rik T C 14: 54,832,911 (GRCm39) E88G probably benign Het
Acaa1b A G 9: 118,986,014 (GRCm39) S17P probably benign Het
Arhgef7 G A 8: 11,881,552 (GRCm39) E565K probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bpnt1 T A 1: 185,077,504 (GRCm39) probably null Het
Ccnt1 C T 15: 98,442,189 (GRCm39) V360I probably benign Het
Chd4 T C 6: 125,105,908 (GRCm39) S1829P possibly damaging Het
Dennd1b A T 1: 138,981,122 (GRCm39) N112I probably damaging Het
Fat2 A T 11: 55,174,805 (GRCm39) D1969E probably benign Het
Flywch1 A C 17: 23,979,591 (GRCm39) D394E probably benign Het
Gal3st4 T A 5: 138,263,733 (GRCm39) probably null Het
Gm14403 T C 2: 177,200,492 (GRCm39) L146P probably damaging Het
Gm5283 G T 3: 17,285,123 (GRCm39) noncoding transcript Het
Gstm2 A T 3: 107,892,411 (GRCm39) M105K possibly damaging Het
Hecw2 A G 1: 53,880,018 (GRCm39) Y1264H probably damaging Het
Ifi206 T A 1: 173,308,952 (GRCm39) Q348L possibly damaging Het
Ighv1-83 A T 12: 115,927,489 (GRCm39) M87K possibly damaging Het
Ighv2-7 A T 12: 113,771,154 (GRCm39) S44T probably damaging Het
Ipo7 T A 7: 109,650,691 (GRCm39) N884K probably benign Het
Itga2b T C 11: 102,358,692 (GRCm39) N75S probably benign Het
Krt20 A G 11: 99,319,811 (GRCm39) V431A unknown Het
Krt24 A T 11: 99,174,452 (GRCm39) I205N possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc31 A T 3: 30,745,446 (GRCm39) L67* probably null Het
Lrrc37a A G 11: 103,395,135 (GRCm39) F97L probably benign Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Mgat4d T G 8: 84,084,787 (GRCm39) probably null Het
Mrgprb3 C T 7: 48,293,054 (GRCm39) V166I probably benign Het
Myh11 T A 16: 14,052,329 (GRCm39) Q379L possibly damaging Het
Myh7 T C 14: 55,222,590 (GRCm39) S782G probably benign Het
Nobox T C 6: 43,282,053 (GRCm39) D340G probably damaging Het
Ntn4 C T 10: 93,480,362 (GRCm39) R29C probably damaging Het
Or2t29 G A 11: 58,433,396 (GRCm39) T315I probably benign Het
Or5b101 T A 19: 13,005,661 (GRCm39) I11F probably benign Het
Pikfyve T A 1: 65,307,959 (GRCm39) I1845N probably damaging Het
Pramel15 A G 4: 144,103,590 (GRCm39) Y179H probably benign Het
Rad21l T G 2: 151,509,927 (GRCm39) H58P probably damaging Het
Scnn1g T C 7: 121,345,825 (GRCm39) L316S probably damaging Het
Serpina5 G A 12: 104,068,460 (GRCm39) V174I probably damaging Het
Shank1 T C 7: 43,993,135 (GRCm39) S788P unknown Het
Shisal1 T A 15: 84,301,397 (GRCm39) H82L probably damaging Het
Snap47 A G 11: 59,319,343 (GRCm39) V265A possibly damaging Het
Steap3 T A 1: 120,171,616 (GRCm39) H163L probably benign Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tet2 A G 3: 133,173,076 (GRCm39) F1729L probably benign Het
Thsd7b T C 1: 130,116,276 (GRCm39) V1343A probably benign Het
Thumpd2 G A 17: 81,334,130 (GRCm39) T486I probably damaging Het
Ttc41 G T 10: 86,565,662 (GRCm39) M405I possibly damaging Het
Ttn T C 2: 76,577,873 (GRCm39) D24340G probably damaging Het
Vmn1r10 T G 6: 57,090,602 (GRCm39) F65V possibly damaging Het
Vmn2r118 G T 17: 55,899,581 (GRCm39) D774E probably damaging Het
Vmn2r13 C T 5: 109,304,331 (GRCm39) C700Y probably damaging Het
Wsb1 A C 11: 79,131,217 (GRCm39) M393R possibly damaging Het
Zmat3 A G 3: 32,397,504 (GRCm39) Y214H probably benign Het
Zswim3 C T 2: 164,662,099 (GRCm39) T193I possibly damaging Het
Other mutations in Gpr161
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9449:Gpr161 UTSW 1 165,146,389 (GRCm39) nonsense probably null
R9469:Gpr161 UTSW 1 165,133,896 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- AAGGAACTGAGCAACCTCACTG -3'
(R):5'- AGACCAGAGATCCCTCATTCCG -3'

Sequencing Primer
(F):5'- ACCTCACTGCAACAGAGGGTG -3'
(R):5'- GAGATCCCTCATTCCGTAACC -3'
Posted On 2016-02-04