Incidental Mutation 'R3856:Gpr171'
ID 276145
Institutional Source Beutler Lab
Gene Symbol Gpr171
Ensembl Gene ENSMUSG00000050075
Gene Name G protein-coupled receptor 171
Synonyms H963, F730001G15Rik
MMRRC Submission 040902-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R3856 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 59003869-59009242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59005506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 90 (T90A)
Ref Sequence ENSEMBL: ENSMUSP00000082115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029393] [ENSMUST00000040325] [ENSMUST00000040846] [ENSMUST00000085040] [ENSMUST00000164225] [ENSMUST00000199659]
AlphaFold Q8BG55
Predicted Effect probably benign
Transcript: ENSMUST00000029393
SMART Domains Protein: ENSMUSP00000029393
Gene: ENSMUSG00000056476

DomainStartEndE-ValueType
Med12 101 172 1.54e-17 SMART
low complexity region 227 235 N/A INTRINSIC
low complexity region 280 289 N/A INTRINSIC
Pfam:Med12-LCEWAV 293 737 1.6e-200 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040325
SMART Domains Protein: ENSMUSP00000042269
Gene: ENSMUSG00000056476

DomainStartEndE-ValueType
Med12 101 161 1.71e-24 SMART
low complexity region 216 224 N/A INTRINSIC
low complexity region 269 278 N/A INTRINSIC
Pfam:Med12-LCEWAV 282 730 2.6e-207 PFAM
low complexity region 744 758 N/A INTRINSIC
low complexity region 853 872 N/A INTRINSIC
low complexity region 1455 1466 N/A INTRINSIC
low complexity region 1728 1742 N/A INTRINSIC
low complexity region 1769 1783 N/A INTRINSIC
Pfam:Med12-PQL 1803 2029 2.3e-14 PFAM
low complexity region 2055 2076 N/A INTRINSIC
low complexity region 2083 2101 N/A INTRINSIC
low complexity region 2116 2136 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040846
SMART Domains Protein: ENSMUSP00000041859
Gene: ENSMUSG00000056476

DomainStartEndE-ValueType
Med12 101 172 1.54e-17 SMART
low complexity region 227 235 N/A INTRINSIC
low complexity region 280 289 N/A INTRINSIC
Pfam:Med12-LCEWAV 293 728 9e-201 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000085040
AA Change: T90A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000082115
Gene: ENSMUSG00000050075
AA Change: T90A

DomainStartEndE-ValueType
Pfam:7tm_1 31 285 4e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164225
SMART Domains Protein: ENSMUSP00000127038
Gene: ENSMUSG00000056476

DomainStartEndE-ValueType
Med12 101 161 1.71e-24 SMART
low complexity region 216 224 N/A INTRINSIC
low complexity region 269 278 N/A INTRINSIC
Pfam:Med12-LCEWAV 283 765 5e-187 PFAM
low complexity region 779 793 N/A INTRINSIC
low complexity region 888 907 N/A INTRINSIC
low complexity region 1490 1501 N/A INTRINSIC
low complexity region 1763 1777 N/A INTRINSIC
low complexity region 1804 1818 N/A INTRINSIC
Pfam:Med12-PQL 1840 2063 9.7e-66 PFAM
low complexity region 2090 2111 N/A INTRINSIC
low complexity region 2118 2136 N/A INTRINSIC
low complexity region 2151 2171 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199659
SMART Domains Protein: ENSMUSP00000142903
Gene: ENSMUSG00000056476

DomainStartEndE-ValueType
Med12 101 161 1.71e-24 SMART
low complexity region 216 224 N/A INTRINSIC
low complexity region 269 278 N/A INTRINSIC
Pfam:Med12-LCEWAV 282 765 5.5e-209 PFAM
low complexity region 779 793 N/A INTRINSIC
low complexity region 888 907 N/A INTRINSIC
low complexity region 1490 1501 N/A INTRINSIC
low complexity region 1761 1775 N/A INTRINSIC
low complexity region 1802 1816 N/A INTRINSIC
Pfam:Med12-PQL 1836 2062 1.7e-15 PFAM
low complexity region 2088 2130 N/A INTRINSIC
low complexity region 2144 2164 N/A INTRINSIC
Meta Mutation Damage Score 0.2029 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.7%
  • 20x: 92.4%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T C 14: 103,292,882 (GRCm39) S469P possibly damaging Het
Adgrf5 A T 17: 43,757,927 (GRCm39) N787I possibly damaging Het
Ank2 T C 3: 126,723,493 (GRCm39) T945A probably benign Het
Aox4 T A 1: 58,293,093 (GRCm39) I863N probably damaging Het
Ap3d1 A G 10: 80,548,019 (GRCm39) I891T probably benign Het
Apex1 A G 14: 51,163,714 (GRCm39) T109A probably benign Het
Arhgef1 G A 7: 24,618,697 (GRCm39) G107S probably damaging Het
Atxn7l1 A G 12: 33,417,599 (GRCm39) T587A probably damaging Het
Atxn7l3 T C 11: 102,184,729 (GRCm39) D128G probably damaging Het
Cacna1h T C 17: 25,611,427 (GRCm39) Y457C probably damaging Het
Ccdc60 A C 5: 116,310,514 (GRCm39) C183G probably damaging Het
Cep131 G A 11: 119,958,011 (GRCm39) R772* probably null Het
Cnst C T 1: 179,407,279 (GRCm39) P109S probably benign Het
Crtc2 G T 3: 90,169,877 (GRCm39) L509F probably damaging Het
Ctsr A T 13: 61,309,750 (GRCm39) I153N possibly damaging Het
Dffa A T 4: 149,188,708 (GRCm39) M1L possibly damaging Het
Dnajc16 G A 4: 141,490,964 (GRCm39) R729* probably null Het
Eef2k T A 7: 120,498,594 (GRCm39) C91* probably null Het
Eml5 T C 12: 98,782,283 (GRCm39) D1336G probably damaging Het
F12 G A 13: 55,569,035 (GRCm39) probably null Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fbxo40 A T 16: 36,789,445 (GRCm39) L555Q probably damaging Het
Frmpd1 T C 4: 45,283,698 (GRCm39) S840P probably damaging Het
Gadd45a C T 6: 67,013,989 (GRCm39) probably null Het
Galnt7 T C 8: 57,985,658 (GRCm39) probably benign Het
Gm5592 G A 7: 40,807,259 (GRCm39) probably benign Het
Gpr82 A T X: 13,531,577 (GRCm39) T42S probably benign Het
H2-M10.6 T A 17: 37,123,396 (GRCm39) I30N probably benign Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Hspa4l C A 3: 40,739,821 (GRCm39) H698Q probably benign Het
Idi1 G T 13: 8,935,968 (GRCm39) A25S probably benign Het
Kdm4a C T 4: 118,010,428 (GRCm39) R605H probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Or52ae7 T A 7: 103,119,867 (GRCm39) V207E probably damaging Het
Pbp2 A G 6: 135,287,143 (GRCm39) L68P probably benign Het
Pcnx3 G T 19: 5,728,995 (GRCm39) T547K probably benign Het
Ppp1r12a T C 10: 108,089,362 (GRCm39) probably benign Het
Prmt9 G A 8: 78,294,894 (GRCm39) V413I probably benign Het
Pudp T C 18: 50,701,124 (GRCm39) N203S probably benign Het
Rnf213 T C 11: 119,371,765 (GRCm39) probably benign Het
Sall3 G A 18: 81,015,717 (GRCm39) T737M probably damaging Het
Scn2b A G 9: 45,036,759 (GRCm39) N89S possibly damaging Het
Sgsm1 A G 5: 113,411,125 (GRCm39) V580A probably benign Het
Slc13a4 C A 6: 35,248,539 (GRCm39) probably null Het
Slc4a4 A C 5: 89,380,698 (GRCm39) S1015R probably benign Het
Slc8a1 T C 17: 81,955,803 (GRCm39) T412A probably benign Het
Spag17 A T 3: 100,014,075 (GRCm39) D2116V probably damaging Het
Trim55 T C 3: 19,727,120 (GRCm39) F396L probably benign Het
Usp54 C A 14: 20,638,488 (GRCm39) M197I probably damaging Het
Vmn1r189 A T 13: 22,286,439 (GRCm39) F133I possibly damaging Het
Zfp735 T C 11: 73,602,282 (GRCm39) S409P probably benign Het
Other mutations in Gpr171
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01808:Gpr171 APN 3 59,005,572 (GRCm39) missense probably damaging 1.00
IGL02635:Gpr171 APN 3 59,005,017 (GRCm39) missense probably benign 0.04
IGL02858:Gpr171 APN 3 59,005,288 (GRCm39) missense probably benign 0.26
R1491:Gpr171 UTSW 3 59,005,016 (GRCm39) missense probably benign 0.01
R1539:Gpr171 UTSW 3 59,005,142 (GRCm39) missense possibly damaging 0.50
R1819:Gpr171 UTSW 3 59,005,341 (GRCm39) missense probably benign 0.02
R2255:Gpr171 UTSW 3 59,005,628 (GRCm39) missense probably benign 0.01
R3721:Gpr171 UTSW 3 59,005,091 (GRCm39) missense possibly damaging 0.95
R4259:Gpr171 UTSW 3 59,004,948 (GRCm39) missense probably damaging 1.00
R4749:Gpr171 UTSW 3 59,004,887 (GRCm39) missense probably benign 0.11
R4816:Gpr171 UTSW 3 59,005,517 (GRCm39) missense probably damaging 1.00
R4972:Gpr171 UTSW 3 59,005,386 (GRCm39) missense probably damaging 1.00
R6363:Gpr171 UTSW 3 59,005,313 (GRCm39) missense possibly damaging 0.91
R6414:Gpr171 UTSW 3 59,005,544 (GRCm39) missense probably damaging 0.97
R7076:Gpr171 UTSW 3 59,005,577 (GRCm39) missense probably damaging 0.98
R7290:Gpr171 UTSW 3 59,005,147 (GRCm39) missense probably benign 0.00
R7404:Gpr171 UTSW 3 59,005,622 (GRCm39) missense probably damaging 0.99
R7447:Gpr171 UTSW 3 59,005,860 (GRCm39) critical splice acceptor site probably null
R7721:Gpr171 UTSW 3 59,005,320 (GRCm39) missense probably benign 0.40
R8120:Gpr171 UTSW 3 59,005,406 (GRCm39) missense probably damaging 0.96
R8548:Gpr171 UTSW 3 59,005,400 (GRCm39) missense probably damaging 1.00
R8897:Gpr171 UTSW 3 59,005,116 (GRCm39) missense probably benign
R9126:Gpr171 UTSW 3 59,005,488 (GRCm39) missense probably damaging 1.00
R9339:Gpr171 UTSW 3 59,005,362 (GRCm39) missense probably damaging 1.00
R9411:Gpr171 UTSW 3 59,005,311 (GRCm39) nonsense probably null
R9418:Gpr171 UTSW 3 59,004,999 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- ATGATCAGCAGGACCATGAGC -3'
(R):5'- TCTGTCCGGTTTACAGAGATCTG -3'

Sequencing Primer
(F):5'- CCACACGACAGCTGATATCATTTTGG -3'
(R):5'- AATTATTGGAAGTTGTTTTGCCACG -3'
Posted On 2015-04-06