Incidental Mutation 'R9380:Paqr7'
ID 709923
Institutional Source Beutler Lab
Gene Symbol Paqr7
Ensembl Gene ENSMUSG00000037348
Gene Name progestin and adipoQ receptor family member VII
Synonyms mPR, 2310021M12Rik, PGLP, Mpra
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9380 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 134224315-134237548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134234350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 69 (N69S)
Ref Sequence ENSEMBL: ENSMUSP00000080240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081525] [ENSMUST00000095074] [ENSMUST00000105866] [ENSMUST00000125330] [ENSMUST00000134506] [ENSMUST00000136171]
AlphaFold Q80ZE4
Predicted Effect probably damaging
Transcript: ENSMUST00000081525
AA Change: N69S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080240
Gene: ENSMUSG00000037348
AA Change: N69S

DomainStartEndE-ValueType
Pfam:HlyIII 65 289 7.1e-52 PFAM
transmembrane domain 314 336 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000095074
AA Change: N69S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125932
Gene: ENSMUSG00000037348
AA Change: N69S

DomainStartEndE-ValueType
Pfam:HlyIII 65 289 2.4e-45 PFAM
transmembrane domain 314 336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105866
SMART Domains Protein: ENSMUSP00000101492
Gene: ENSMUSG00000078521

DomainStartEndE-ValueType
Pfam:AIB 26 335 1.5e-134 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125330
AA Change: N69S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116485
Gene: ENSMUSG00000037348
AA Change: N69S

DomainStartEndE-ValueType
Pfam:HlyIII 65 147 3.4e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134506
AA Change: N69S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120959
Gene: ENSMUSG00000037348
AA Change: N69S

DomainStartEndE-ValueType
Pfam:HlyIII 65 127 4.6e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000136171
AA Change: N69S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122936
Gene: ENSMUSG00000037348
AA Change: N69S

DomainStartEndE-ValueType
Pfam:HlyIII 65 237 1.5e-28 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 T G 1: 78,659,602 (GRCm39) C85G possibly damaging Het
Alox12e A T 11: 70,206,994 (GRCm39) probably null Het
Aoc1l2 T C 6: 48,910,064 (GRCm39) I667T probably damaging Het
Asb10 A C 5: 24,739,103 (GRCm39) probably null Het
B3galt9 G A 2: 34,729,029 (GRCm39) C276Y probably damaging Het
Bcl2a1d G A 9: 88,613,935 (GRCm39) probably benign Het
Camsap3 A T 8: 3,653,999 (GRCm39) K556N probably benign Het
Cd300lf T A 11: 115,015,153 (GRCm39) T146S probably benign Het
Chuk C A 19: 44,062,958 (GRCm39) A744S unknown Het
Clint1 A T 11: 45,742,988 (GRCm39) M4L probably benign Het
Cnot4 T C 6: 35,029,865 (GRCm39) I344M possibly damaging Het
Cpne1 T C 2: 155,920,721 (GRCm39) D135G probably benign Het
Csgalnact2 C A 6: 118,105,840 (GRCm39) L159F probably damaging Het
Dnai2 T C 11: 114,635,989 (GRCm39) F325L probably benign Het
Dnal4 G A 15: 79,647,790 (GRCm39) S25L possibly damaging Het
Ep300 T C 15: 81,500,245 (GRCm39) M515T unknown Het
Ewsr1 T C 11: 5,043,730 (GRCm39) Y18C possibly damaging Het
Fam25a T C 14: 34,073,957 (GRCm39) T72A possibly damaging Het
Flii T C 11: 60,606,297 (GRCm39) Y1131C probably benign Het
Foxj1 C T 11: 116,222,547 (GRCm39) A419T possibly damaging Het
Fsd1l A G 4: 53,693,991 (GRCm39) T323A possibly damaging Het
Furin T C 7: 80,041,506 (GRCm39) I551V probably benign Het
Gbp11 A G 5: 105,475,202 (GRCm39) V382A probably benign Het
Gfod1 A C 13: 43,354,320 (GRCm39) D218E probably damaging Het
Glp2r A T 11: 67,637,572 (GRCm39) I153N possibly damaging Het
Gm11214 G T 4: 63,580,850 (GRCm39) P100T possibly damaging Het
Gne A T 4: 44,066,807 (GRCm39) F69I probably benign Het
Hsd3b2 T C 3: 98,619,453 (GRCm39) K164R probably damaging Het
Hspa1b T C 17: 35,177,170 (GRCm39) R272G probably damaging Het
Hydin C A 8: 111,290,504 (GRCm39) T3321N probably benign Het
Impg1 A T 9: 80,289,077 (GRCm39) S327T probably benign Het
Izumo2 T C 7: 44,364,812 (GRCm39) V159A probably benign Het
Kat6b T C 14: 21,678,926 (GRCm39) S430P probably damaging Het
Kcnj9 T A 1: 172,153,447 (GRCm39) T226S probably benign Het
Kl T A 5: 150,912,342 (GRCm39) M697K possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrrk1 G A 7: 65,928,331 (GRCm39) P1266S probably damaging Het
Med13 A T 11: 86,177,598 (GRCm39) N1499K probably benign Het
Mybbp1a A G 11: 72,333,668 (GRCm39) I182V probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nin A G 12: 70,074,805 (GRCm39) L1859P Het
Nlrp4e C G 7: 23,020,755 (GRCm39) A414G probably benign Het
Or2y10 A G 11: 49,454,904 (GRCm39) D52G possibly damaging Het
Or4a67 A T 2: 88,598,530 (GRCm39) I43N probably damaging Het
Or4k1 C A 14: 50,377,770 (GRCm39) G109W probably damaging Het
Or8b50 A G 9: 38,518,415 (GRCm39) Y218C probably damaging Het
Osbpl8 T A 10: 111,108,980 (GRCm39) S421T probably damaging Het
Pcare A T 17: 72,056,351 (GRCm39) S1109T possibly damaging Het
Pdgfrb G A 18: 61,197,920 (GRCm39) G231D probably damaging Het
Pip5k1b A G 19: 24,356,417 (GRCm39) Y174H probably damaging Het
Pkd1 T A 17: 24,769,262 (GRCm39) L9Q unknown Het
Psmg4 A T 13: 34,350,080 (GRCm39) T71S probably benign Het
Ptpn23 A G 9: 110,221,581 (GRCm39) I173T possibly damaging Het
Qser1 G A 2: 104,619,691 (GRCm39) Q284* probably null Het
Rcc2 G T 4: 140,429,702 (GRCm39) A79S probably benign Het
Rgl3 G T 9: 21,888,123 (GRCm39) Q464K probably damaging Het
Rhov C A 2: 119,100,604 (GRCm39) R211L probably benign Het
Rp1l1 A G 14: 64,266,475 (GRCm39) D687G probably benign Het
Selenbp2 A G 3: 94,609,654 (GRCm39) I291V probably benign Het
Sh3glb2 A T 2: 30,238,625 (GRCm39) V189E probably damaging Het
Slc46a2 A G 4: 59,913,867 (GRCm39) I352T probably damaging Het
Sucla2 T A 14: 73,828,312 (GRCm39) N306K probably benign Het
Suco A G 1: 161,646,074 (GRCm39) V1209A possibly damaging Het
Tacc2 T A 7: 130,226,771 (GRCm39) L1152Q possibly damaging Het
Tanc1 A T 2: 59,665,796 (GRCm39) K1185M probably damaging Het
Tas2r114 A G 6: 131,666,381 (GRCm39) F216L probably benign Het
Tead1 A T 7: 112,441,105 (GRCm39) H78L possibly damaging Het
Tex12 T C 9: 50,469,586 (GRCm39) I64V possibly damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Trank1 A G 9: 111,221,738 (GRCm39) E2825G probably benign Het
Trappc13 T A 13: 104,280,707 (GRCm39) Y399F probably damaging Het
Trim21 T C 7: 102,212,992 (GRCm39) D102G probably damaging Het
Trim27 G T 13: 21,364,680 (GRCm39) V6L probably benign Het
Trim55 A G 3: 19,728,559 (GRCm39) T457A probably benign Het
Trrap A G 5: 144,769,981 (GRCm39) E2716G probably benign Het
Usp10 T G 8: 120,682,943 (GRCm39) L712R probably damaging Het
Vldlr T A 19: 27,216,192 (GRCm39) C338S possibly damaging Het
Zfp946 A G 17: 22,673,680 (GRCm39) I145V probably benign Het
Other mutations in Paqr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Paqr7 APN 4 134,234,278 (GRCm39) missense probably damaging 1.00
IGL02418:Paqr7 APN 4 134,234,284 (GRCm39) missense probably damaging 1.00
R1301:Paqr7 UTSW 4 134,235,124 (GRCm39) missense probably damaging 1.00
R1763:Paqr7 UTSW 4 134,234,409 (GRCm39) missense probably benign 0.10
R1781:Paqr7 UTSW 4 134,234,592 (GRCm39) splice site probably null
R1852:Paqr7 UTSW 4 134,234,980 (GRCm39) missense probably benign 0.23
R4843:Paqr7 UTSW 4 134,234,278 (GRCm39) missense probably damaging 1.00
R5931:Paqr7 UTSW 4 134,235,031 (GRCm39) missense probably damaging 0.99
R6426:Paqr7 UTSW 4 134,234,278 (GRCm39) missense probably damaging 1.00
R7337:Paqr7 UTSW 4 134,234,431 (GRCm39) missense probably benign 0.01
R8103:Paqr7 UTSW 4 134,234,821 (GRCm39) missense probably benign 0.00
R9299:Paqr7 UTSW 4 134,234,311 (GRCm39) missense probably benign
R9470:Paqr7 UTSW 4 134,234,914 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCAGTAGCCCAGAAGTTCAAC -3'
(R):5'- AAGCTGTAATGCCAGAACTCC -3'

Sequencing Primer
(F):5'- GAAGTTCAACCACCTTCTGTCCAG -3'
(R):5'- TGTAATGCCAGAACTCCGACTTGG -3'
Posted On 2022-04-18