Incidental Mutation 'R5931:Paqr7'
ID461831
Institutional Source Beutler Lab
Gene Symbol Paqr7
Ensembl Gene ENSMUSG00000037348
Gene Nameprogestin and adipoQ receptor family member VII
Synonyms2310021M12Rik, mPR, Mpra, PGLP
MMRRC Submission 044126-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5931 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location134496697-134510235 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 134507720 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 296 (Y296S)
Ref Sequence ENSEMBL: ENSMUSP00000125932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081525] [ENSMUST00000095074] [ENSMUST00000105866] [ENSMUST00000125330] [ENSMUST00000134506] [ENSMUST00000136171]
Predicted Effect probably damaging
Transcript: ENSMUST00000081525
AA Change: Y296S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080240
Gene: ENSMUSG00000037348
AA Change: Y296S

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: Y296S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125932
Gene: ENSMUSG00000037348
AA Change: Y296S

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 benign
Transcript: ENSMUST00000125330
SMART Domains Protein: ENSMUSP00000116485
Gene: ENSMUSG00000037348

DomainStartEndE-ValueType
Pfam:HlyIII 65 147 3.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134506
SMART Domains Protein: ENSMUSP00000120959
Gene: ENSMUSG00000037348

DomainStartEndE-ValueType
Pfam:HlyIII 65 127 4.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136171
SMART Domains Protein: ENSMUSP00000122936
Gene: ENSMUSG00000037348

DomainStartEndE-ValueType
Pfam:HlyIII 65 237 1.5e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155449
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik G A 2: 130,814,189 T2M probably damaging Het
4930590J08Rik A T 6: 91,919,115 R315W probably damaging Het
Atrn A T 2: 130,933,436 Y153F possibly damaging Het
C4b A G 17: 34,729,193 V1644A probably damaging Het
Carmil3 A C 14: 55,498,940 K654T probably damaging Het
Cdh1 T C 8: 106,666,332 probably null Het
Chrna1 C T 2: 73,568,100 V332M probably benign Het
Clca2 A C 3: 145,092,125 V193G possibly damaging Het
Cyld A G 8: 88,729,842 probably null Het
Dbt A T 3: 116,523,425 E83D possibly damaging Het
Deup1 T C 9: 15,561,322 R471G possibly damaging Het
Dgcr2 T A 16: 17,857,309 I188F possibly damaging Het
Dgkg G A 16: 22,558,038 R524* probably null Het
Dnah5 A T 15: 28,453,279 R4399W probably damaging Het
Egflam G A 15: 7,243,857 T579I possibly damaging Het
Eif2b2 C T 12: 85,222,787 T211I probably damaging Het
Ep400 A G 5: 110,735,520 probably benign Het
Ermp1 C G 19: 29,615,729 A788P probably benign Het
Ern1 A G 11: 106,426,873 S142P possibly damaging Het
Fbxo15 T A 18: 84,981,125 C351S probably damaging Het
Fndc3a A T 14: 72,568,867 S444T probably benign Het
Gabra6 G A 11: 42,307,441 T384M probably benign Het
Gm6169 A G 13: 97,099,197 L14S probably benign Het
Gpbp1l1 T C 4: 116,590,260 V379A probably benign Het
Hook2 G T 8: 84,995,746 E305* probably null Het
Hoxa3 G A 6: 52,172,588 A21V probably damaging Het
Hs1bp3 C A 12: 8,341,915 P339Q probably benign Het
Igha T A 12: 113,260,090 T49S probably benign Het
Klra4 C T 6: 130,053,053 V190M possibly damaging Het
Lats2 A G 14: 57,696,131 L843P probably damaging Het
Lcmt1 A G 7: 123,421,616 T255A probably benign Het
Lpar6 A G 14: 73,238,928 I110V probably damaging Het
Lrrtm4 A G 6: 80,021,739 I44V probably damaging Het
Mcm3ap T C 10: 76,471,166 V371A probably benign Het
Muc20 A T 16: 32,794,574 D144E possibly damaging Het
Nphp3 T A 9: 104,020,746 D417E probably damaging Het
Olfr853 A T 9: 19,537,333 I199K probably benign Het
Olfr889 A G 9: 38,116,374 I193V probably benign Het
Pcdha4 A T 18: 36,954,755 T664S probably damaging Het
Pelo T A 13: 115,088,843 Y282F probably benign Het
Plxna2 A T 1: 194,810,870 I1818F probably damaging Het
Pnkd A G 1: 74,350,674 D319G probably benign Het
Pnmal1 C A 7: 16,960,884 N221K probably benign Het
Ppp1cb T A 5: 32,483,466 probably null Het
Prkca T G 11: 108,014,310 I201L probably benign Het
Rfx2 G A 17: 56,780,778 R538C probably damaging Het
Rph3a T C 5: 120,963,873 Q100R probably damaging Het
Rtel1 C T 2: 181,330,815 R29* probably null Het
Scel T A 14: 103,605,624 Y547* probably null Het
Sp100 C T 1: 85,679,083 P303L probably damaging Het
Stk31 A G 6: 49,469,302 S958G probably benign Het
Syne2 T A 12: 76,008,865 V4168E probably benign Het
Tenm3 A T 8: 48,646,498 S91T probably benign Het
Tmcc2 TTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGC 1: 132,357,755 probably benign Het
Tmem248 T A 5: 130,229,508 I14N probably damaging Het
Tor3a T C 1: 156,656,487 I298V probably benign Het
Trim69 A T 2: 122,178,594 K378N probably damaging Het
Ttc28 C T 5: 111,085,109 P151S possibly damaging Het
Uaca T C 9: 60,872,012 V1225A probably damaging Het
Vps4b T C 1: 106,777,335 I343V probably benign Het
Wnk4 A G 11: 101,261,221 T184A probably damaging Het
Ythdc2 T A 18: 44,872,956 I1172K possibly damaging Het
Other mutations in Paqr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Paqr7 APN 4 134506967 missense probably damaging 1.00
IGL02418:Paqr7 APN 4 134506973 missense probably damaging 1.00
R1301:Paqr7 UTSW 4 134507813 missense probably damaging 1.00
R1763:Paqr7 UTSW 4 134507098 missense probably benign 0.10
R1781:Paqr7 UTSW 4 134507281 unclassified probably null
R1852:Paqr7 UTSW 4 134507669 missense probably benign 0.23
R4843:Paqr7 UTSW 4 134506967 missense probably damaging 1.00
R6426:Paqr7 UTSW 4 134506967 missense probably damaging 1.00
R7337:Paqr7 UTSW 4 134507120 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTCTATCACAAATGCCAAGTGG -3'
(R):5'- AGAACCAGCTTTACCAGGCC -3'

Sequencing Primer
(F):5'- CACAAATGCCAAGTGGTTTTCTTC -3'
(R):5'- TCCGATCTGGAGCCAAGTC -3'
Posted On2017-02-28