Incidental Mutation 'R1570:Or52b4i'
ID 177181
Institutional Source Beutler Lab
Gene Symbol Or52b4i
Ensembl Gene ENSMUSG00000073978
Gene Name olfactory receptor family 52 subfamily B member 4I
Synonyms Olfr548, MOR31-13, GA_x6K02T2PBJ9-5263046-5263989
MMRRC Submission 039609-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R1570 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102191145-102192086 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 102191177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 11 (H11Q)
Ref Sequence ENSEMBL: ENSMUSP00000147923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098228] [ENSMUST00000210064]
AlphaFold A0A1B0GSG0
Predicted Effect probably damaging
Transcript: ENSMUST00000098228
AA Change: H11Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131106
Gene: ENSMUSG00000073978
AA Change: H11Q

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 6.8e-104 PFAM
Pfam:7TM_GPCR_Srsx 37 280 1.6e-9 PFAM
Pfam:7tm_1 43 294 2.1e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098228
AA Change: H11Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000210064
AA Change: H11Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.0%
Validation Efficiency 93% (77/83)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apobec1 A G 6: 122,568,044 (GRCm39) probably null Het
Arhgap21 G T 2: 20,885,651 (GRCm39) Q348K probably benign Het
Arl5c A G 11: 97,883,213 (GRCm39) V129A probably benign Het
Armh1 A G 4: 117,087,189 (GRCm39) S159P probably damaging Het
Asb8 A G 15: 98,034,309 (GRCm39) L82P probably damaging Het
Bahcc1 G A 11: 120,163,009 (GRCm39) A436T possibly damaging Het
Btc T C 5: 91,550,576 (GRCm39) D2G unknown Het
C1s2 G A 6: 124,602,723 (GRCm39) T490M probably benign Het
Caap1 C T 4: 94,444,814 (GRCm39) G43D probably benign Het
Ccr5 T C 9: 123,925,000 (GRCm39) V201A probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdhr5 C A 7: 140,851,682 (GRCm39) G541C probably damaging Het
Cep170 A G 1: 176,583,367 (GRCm39) I1004T possibly damaging Het
Chd9 A T 8: 91,763,170 (GRCm39) M2332L probably benign Het
Clk1 T A 1: 58,453,584 (GRCm39) H334L probably benign Het
Cyp4b1 G A 4: 115,493,160 (GRCm39) S228F probably benign Het
Dnah9 T C 11: 66,003,156 (GRCm39) N883D probably benign Het
Dync2h1 A G 9: 7,176,926 (GRCm39) L11P probably benign Het
Ephx4 A G 5: 107,567,717 (GRCm39) E225G probably damaging Het
Erich6 C T 3: 58,538,080 (GRCm39) probably null Het
Espl1 A G 15: 102,206,802 (GRCm39) T89A probably damaging Het
Evi2 T A 11: 79,407,076 (GRCm39) K166N possibly damaging Het
Glrx5 A G 12: 104,999,127 (GRCm39) T57A possibly damaging Het
Gnptab T A 10: 88,255,316 (GRCm39) V222E probably damaging Het
Gpr155 T C 2: 73,200,382 (GRCm39) Y375C possibly damaging Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Ildr2 T C 1: 166,131,154 (GRCm39) F337L probably damaging Het
Ino80 C T 2: 119,277,509 (GRCm39) R322Q possibly damaging Het
Lcp2 A G 11: 34,039,601 (GRCm39) D467G probably benign Het
Lmbr1 A G 5: 29,459,556 (GRCm39) I229T probably damaging Het
Lnpep A T 17: 17,799,418 (GRCm39) M79K probably damaging Het
Lpin1 T C 12: 16,610,999 (GRCm39) Q564R possibly damaging Het
Lpin2 T A 17: 71,552,176 (GRCm39) L794* probably null Het
Lrrc37 A G 11: 103,500,764 (GRCm39) Y597H possibly damaging Het
Lrrc45 T C 11: 120,610,935 (GRCm39) probably null Het
Mtus1 A G 8: 41,529,278 (GRCm39) S751P probably damaging Het
Nbr1 T C 11: 101,455,656 (GRCm39) probably benign Het
Nup107 A G 10: 117,599,749 (GRCm39) F592S possibly damaging Het
Nup133 T A 8: 124,675,915 (GRCm39) M1L possibly damaging Het
Or2a20 T C 6: 43,194,285 (GRCm39) V146A probably benign Het
Or3a10 A C 11: 73,935,633 (GRCm39) F156V possibly damaging Het
Or4n4 T G 14: 50,518,981 (GRCm39) H243P probably damaging Het
Or4p8 A C 2: 88,727,290 (GRCm39) I217S probably damaging Het
Or8i2 A T 2: 86,852,616 (GRCm39) S91T probably benign Het
Otud7b T C 3: 96,063,208 (GRCm39) C816R probably damaging Het
Pi4k2a T C 19: 42,089,083 (GRCm39) V148A probably benign Het
Pih1d2 T C 9: 50,532,479 (GRCm39) M195T probably benign Het
Pira13 T C 7: 3,826,060 (GRCm39) E311G probably benign Het
Plpp6 T C 19: 28,942,178 (GRCm39) F260L probably damaging Het
R3hcc1l A T 19: 42,570,393 (GRCm39) T663S probably damaging Het
Rnf25 T C 1: 74,634,426 (GRCm39) E199G probably damaging Het
Scin G A 12: 40,134,380 (GRCm39) probably benign Het
Serpinb1c A T 13: 33,080,973 (GRCm39) S37T probably benign Het
Snx19 A G 9: 30,339,639 (GRCm39) D259G probably damaging Het
Sorcs3 A G 19: 48,752,620 (GRCm39) K805R probably damaging Het
Sox6 C A 7: 115,376,358 (GRCm39) G125W probably damaging Het
Spink5 A G 18: 44,100,174 (GRCm39) I64V probably benign Het
Spmip10 T A 18: 56,727,606 (GRCm39) D101E probably benign Het
St6galnac1 A G 11: 116,657,474 (GRCm39) probably benign Het
Sult1c2 T C 17: 54,143,991 (GRCm39) I105V probably benign Het
Tacr3 T G 3: 134,535,517 (GRCm39) S162A probably damaging Het
Ttc6 T C 12: 57,721,549 (GRCm39) S1013P probably damaging Het
Zbtb11 C A 16: 55,811,178 (GRCm39) N445K probably benign Het
Zfp423 A C 8: 88,509,186 (GRCm39) V261G probably benign Het
Zfp59 T C 7: 27,553,016 (GRCm39) V156A probably benign Het
Zscan2 C A 7: 80,513,141 (GRCm39) A42E probably damaging Het
Other mutations in Or52b4i
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Or52b4i APN 7 102,191,593 (GRCm39) missense possibly damaging 0.94
IGL01532:Or52b4i APN 7 102,191,863 (GRCm39) missense probably damaging 1.00
R0114:Or52b4i UTSW 7 102,191,938 (GRCm39) missense probably benign 0.32
R0398:Or52b4i UTSW 7 102,191,899 (GRCm39) missense probably damaging 1.00
R0426:Or52b4i UTSW 7 102,191,893 (GRCm39) missense probably damaging 1.00
R0616:Or52b4i UTSW 7 102,191,761 (GRCm39) missense possibly damaging 0.70
R1511:Or52b4i UTSW 7 102,191,332 (GRCm39) missense probably damaging 1.00
R4668:Or52b4i UTSW 7 102,191,811 (GRCm39) missense possibly damaging 0.95
R4825:Or52b4i UTSW 7 102,191,587 (GRCm39) missense possibly damaging 0.90
R6030:Or52b4i UTSW 7 102,191,817 (GRCm39) missense probably benign 0.01
R6030:Or52b4i UTSW 7 102,191,817 (GRCm39) missense probably benign 0.01
R6427:Or52b4i UTSW 7 102,191,895 (GRCm39) missense probably benign 0.05
R7108:Or52b4i UTSW 7 102,191,199 (GRCm39) missense probably damaging 0.99
R7451:Or52b4i UTSW 7 102,191,461 (GRCm39) missense probably benign 0.01
R7622:Or52b4i UTSW 7 102,191,830 (GRCm39) missense probably benign 0.00
R7940:Or52b4i UTSW 7 102,191,515 (GRCm39) missense possibly damaging 0.60
R8074:Or52b4i UTSW 7 102,191,830 (GRCm39) missense probably benign 0.00
R8133:Or52b4i UTSW 7 102,192,065 (GRCm39) missense probably benign 0.01
R8145:Or52b4i UTSW 7 102,191,830 (GRCm39) missense probably benign 0.00
X0058:Or52b4i UTSW 7 102,192,033 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTAGTTCCAGGAACACCAGCAGTG -3'
(R):5'- TGTAGCGGTCAAACGCCATCAC -3'

Sequencing Primer
(F):5'- CACCAGCAGTGAAAAACAATTAGG -3'
(R):5'- TGGAGAGCACAATGTCTGCC -3'
Posted On 2014-04-24