Incidental Mutation 'R9266:Paqr8'
ID 702507
Institutional Source Beutler Lab
Gene Symbol Paqr8
Ensembl Gene ENSMUSG00000025931
Gene Name progestin and adipoQ receptor family member VIII
Synonyms 1700019B16Rik, 3110001D06Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9266 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 20960830-21009874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21005863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 339 (T339I)
Ref Sequence ENSEMBL: ENSMUSP00000069127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068880] [ENSMUST00000167119] [ENSMUST00000187651] [ENSMUST00000189400]
AlphaFold Q80ZE5
Predicted Effect probably benign
Transcript: ENSMUST00000068880
AA Change: T339I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069127
Gene: ENSMUSG00000025931
AA Change: T339I

DomainStartEndE-ValueType
Pfam:HlyIII 70 297 1.7e-47 PFAM
transmembrane domain 319 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167119
AA Change: T339I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128781
Gene: ENSMUSG00000025931
AA Change: T339I

DomainStartEndE-ValueType
Pfam:HlyIII 70 297 1.2e-53 PFAM
transmembrane domain 319 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187651
AA Change: T339I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140913
Gene: ENSMUSG00000025931
AA Change: T339I

DomainStartEndE-ValueType
Pfam:HlyIII 70 297 1.7e-47 PFAM
transmembrane domain 319 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189400
AA Change: T339I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141054
Gene: ENSMUSG00000025931
AA Change: T339I

DomainStartEndE-ValueType
Pfam:HlyIII 70 297 1.7e-47 PFAM
transmembrane domain 319 341 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C A 17: 36,270,178 (GRCm39) E627* probably null Het
Aoc1l2 A G 6: 48,907,171 (GRCm39) N57S probably benign Het
Arhgap42 A G 9: 9,006,386 (GRCm39) V670A probably benign Het
Arhgef16 C A 4: 154,375,922 (GRCm39) R24L probably benign Het
Atad2 A T 15: 57,985,967 (GRCm39) D251E probably benign Het
Atf2 T C 2: 73,649,271 (GRCm39) S447G probably benign Het
Atp8b1 T C 18: 64,704,108 (GRCm39) M337V probably benign Het
Atp8b1 C T 18: 64,710,528 (GRCm39) D170N possibly damaging Het
Azin2 C A 4: 128,856,230 (GRCm39) probably benign Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cdh19 A G 1: 110,817,771 (GRCm39) L657P probably damaging Het
Crybg3 A T 16: 59,372,544 (GRCm39) V598E probably damaging Het
Cwc22 A G 2: 77,754,952 (GRCm39) I208T probably benign Het
Cyp4a32 T A 4: 115,468,307 (GRCm39) D292E probably damaging Het
Dnah10 G A 5: 124,845,990 (GRCm39) V1510I probably benign Het
Dpp3 G T 19: 4,964,686 (GRCm39) Y540* probably null Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Elf1 A G 14: 79,798,290 (GRCm39) D59G probably benign Het
Epc1 A T 18: 6,449,219 (GRCm39) M476K probably benign Het
Espnl C A 1: 91,272,771 (GRCm39) S710R probably benign Het
Fam171b T C 2: 83,683,926 (GRCm39) W148R probably damaging Het
Fhod1 A G 8: 106,065,531 (GRCm39) L88P unknown Het
Frmd4a A G 2: 4,610,846 (GRCm39) S999G probably damaging Het
Glmp T C 3: 88,233,036 (GRCm39) I58T probably damaging Het
Gm45861 T A 8: 28,074,674 (GRCm39) D1341E unknown Het
Gpr179 A G 11: 97,227,766 (GRCm39) I1463T probably benign Het
Gsdmc2 T C 15: 63,698,088 (GRCm39) E339G probably damaging Het
Insm1 A T 2: 146,064,933 (GRCm39) I250F probably damaging Het
Insm1 G A 2: 146,064,943 (GRCm39) G253D possibly damaging Het
Itih1 A T 14: 30,652,222 (GRCm39) S824T probably damaging Het
Lactb A G 9: 66,878,499 (GRCm39) Y190H possibly damaging Het
Lrba T C 3: 86,198,774 (GRCm39) M197T probably benign Het
Lrrc4c A G 2: 97,459,853 (GRCm39) I160V probably benign Het
Lrrc59 A T 11: 94,532,044 (GRCm39) probably null Het
Ltk A T 2: 119,585,121 (GRCm39) M425K possibly damaging Het
Map9 T C 3: 82,278,594 (GRCm39) V198A possibly damaging Het
Mms22l T C 4: 24,578,878 (GRCm39) Y746H probably damaging Het
Ms4a4b A G 19: 11,432,060 (GRCm39) I60M probably benign Het
Mtif2 T C 11: 29,480,065 (GRCm39) W44R probably benign Het
Nadsyn1 A T 7: 143,369,348 (GRCm39) W128R probably damaging Het
Nrcam G A 12: 44,636,917 (GRCm39) A1117T probably damaging Het
Ntng1 G A 3: 110,050,923 (GRCm39) probably benign Het
Ntng1 A G 3: 110,051,162 (GRCm39) F56L unknown Het
Oas2 A T 5: 120,887,637 (GRCm39) Y68N probably damaging Het
Or4c119 A T 2: 88,986,854 (GRCm39) F222I possibly damaging Het
Or5b101 A C 19: 13,005,648 (GRCm39) L15R probably damaging Het
Or6c6c T C 10: 129,541,547 (GRCm39) S267P probably benign Het
Pals2 T C 6: 50,140,463 (GRCm39) M161T probably benign Het
Pcdhga10 A G 18: 37,881,814 (GRCm39) E525G probably benign Het
Psg28 T G 7: 18,161,752 (GRCm39) L250F probably benign Het
S100a13 G T 3: 90,423,170 (GRCm39) D54Y unknown Het
Slc16a4 A T 3: 107,199,788 (GRCm39) T12S probably benign Het
Slc9b1 A G 3: 135,054,468 (GRCm39) probably benign Het
Slit3 T C 11: 35,598,808 (GRCm39) S1471P probably damaging Het
Smpdl3a T C 10: 57,678,596 (GRCm39) V133A possibly damaging Het
Snap23 C T 2: 120,414,781 (GRCm39) probably benign Het
Spp2 A G 1: 88,344,975 (GRCm39) M146V probably benign Het
Syf2 C A 4: 134,663,321 (GRCm39) N164K possibly damaging Het
Sync T G 4: 129,187,179 (GRCm39) Y70* probably null Het
Tex56 A G 13: 35,116,569 (GRCm39) K106R possibly damaging Het
Tmigd3 T C 3: 105,824,216 (GRCm39) F62L probably benign Het
Trpa1 C T 1: 14,980,953 (GRCm39) probably null Het
U2surp A T 9: 95,366,468 (GRCm39) I480N probably damaging Het
Usf3 C T 16: 44,040,095 (GRCm39) T1525I probably damaging Het
Vmn2r2 T C 3: 64,024,057 (GRCm39) I841M probably damaging Het
Zfp335 T A 2: 164,738,007 (GRCm39) Q868L probably benign Het
Zscan10 A G 17: 23,828,385 (GRCm39) E309G possibly damaging Het
Other mutations in Paqr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01996:Paqr8 APN 1 21,005,628 (GRCm39) missense probably damaging 1.00
IGL02720:Paqr8 APN 1 21,005,733 (GRCm39) nonsense probably null
LCD18:Paqr8 UTSW 1 20,984,882 (GRCm39) intron probably benign
R0190:Paqr8 UTSW 1 21,005,271 (GRCm39) missense probably benign 0.00
R0566:Paqr8 UTSW 1 21,005,687 (GRCm39) missense possibly damaging 0.63
R1491:Paqr8 UTSW 1 21,005,048 (GRCm39) missense probably benign
R1885:Paqr8 UTSW 1 21,005,704 (GRCm39) missense probably damaging 1.00
R3195:Paqr8 UTSW 1 21,005,257 (GRCm39) missense probably damaging 1.00
R3751:Paqr8 UTSW 1 21,005,856 (GRCm39) missense probably benign 0.23
R3752:Paqr8 UTSW 1 21,005,856 (GRCm39) missense probably benign 0.23
R3753:Paqr8 UTSW 1 21,005,856 (GRCm39) missense probably benign 0.23
R4748:Paqr8 UTSW 1 21,005,637 (GRCm39) missense probably benign 0.06
R5207:Paqr8 UTSW 1 21,005,482 (GRCm39) missense probably benign 0.00
R5264:Paqr8 UTSW 1 21,005,332 (GRCm39) missense possibly damaging 0.93
R5267:Paqr8 UTSW 1 21,004,920 (GRCm39) missense probably benign
R7389:Paqr8 UTSW 1 21,005,389 (GRCm39) missense probably damaging 1.00
R7468:Paqr8 UTSW 1 21,005,442 (GRCm39) missense probably damaging 1.00
R8920:Paqr8 UTSW 1 21,005,245 (GRCm39) missense probably damaging 0.99
R9007:Paqr8 UTSW 1 21,005,614 (GRCm39) missense possibly damaging 0.87
R9231:Paqr8 UTSW 1 21,005,875 (GRCm39) missense probably benign
R9313:Paqr8 UTSW 1 21,005,128 (GRCm39) nonsense probably null
Z1176:Paqr8 UTSW 1 21,005,022 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGACATCAAATCTTCCACGC -3'
(R):5'- AATGGCCTGCATTTGAAATTCC -3'

Sequencing Primer
(F):5'- GACATCAAATCTTCCACGCCTTCC -3'
(R):5'- GGAAATCAAACCCTGGGCTTTCTG -3'
Posted On 2022-03-25