Incidental Mutation 'R8675:Clrn3'
ID 661343
Institutional Source Beutler Lab
Gene Symbol Clrn3
Ensembl Gene ENSMUSG00000050866
Gene Name clarin 3
Synonyms Tmem12
MMRRC Submission 068530-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8675 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 135113195-135130383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135115880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 157 (S157P)
Ref Sequence ENSEMBL: ENSMUSP00000056245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053716]
AlphaFold Q8BHH8
Predicted Effect possibly damaging
Transcript: ENSMUST00000053716
AA Change: S157P

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056245
Gene: ENSMUSG00000050866
AA Change: S157P

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 91 113 N/A INTRINSIC
transmembrane domain 126 148 N/A INTRINSIC
transmembrane domain 179 201 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
Abl2 T C 1: 156,452,909 (GRCm39) V148A probably damaging Het
Cacng7 G A 7: 3,385,221 (GRCm39) V41I probably benign Het
Dsg2 T A 18: 20,734,975 (GRCm39) N984K possibly damaging Het
Fam83e A G 7: 45,373,293 (GRCm39) T220A probably benign Het
Frk A G 10: 34,484,493 (GRCm39) T489A probably benign Het
Gigyf2 T A 1: 87,331,438 (GRCm39) H195Q unknown Het
Gm49380 C T 9: 44,023,187 (GRCm39) A354T probably benign Het
Igfbpl1 T C 4: 45,813,469 (GRCm39) T249A possibly damaging Het
Il17ra T A 6: 120,458,949 (GRCm39) M700K probably benign Het
Il20 A T 1: 130,835,172 (GRCm39) W171R probably damaging Het
Mfsd4a T C 1: 131,986,926 (GRCm39) Y134C probably damaging Het
Mis12 A G 11: 70,916,500 (GRCm39) S178G probably benign Het
Pcdh1 A G 18: 38,332,229 (GRCm39) V397A probably damaging Het
Pcsk4 T C 10: 80,158,896 (GRCm39) Y499C probably damaging Het
Pgbd1 A G 13: 21,607,183 (GRCm39) L337P probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pih1d1 A G 7: 44,803,806 (GRCm39) K22E unknown Het
Pkd1l1 A G 11: 8,798,916 (GRCm39) probably null Het
Pld2 A G 11: 70,445,713 (GRCm39) D649G probably null Het
Ralgapa1 T C 12: 55,785,002 (GRCm39) T753A possibly damaging Het
Rapgef5 T A 12: 117,547,782 (GRCm39) L141M probably damaging Het
Rasgrp4 G A 7: 28,842,452 (GRCm39) G242D probably damaging Het
Rnf213 T C 11: 119,346,984 (GRCm39) S3682P Het
Scnn1b A G 7: 121,498,474 (GRCm39) K5E probably damaging Het
Smbd1 T C 16: 32,625,340 (GRCm39) *142W probably null Het
Snrnp200 A G 2: 127,074,443 (GRCm39) T1428A possibly damaging Het
Speer1b C T 5: 11,823,973 (GRCm39) R174* probably null Het
Spire1 T C 18: 67,624,378 (GRCm39) T594A possibly damaging Het
Spta1 A G 1: 174,058,249 (GRCm39) T1906A probably benign Het
Stx16 T C 2: 173,934,255 (GRCm39) S152P probably benign Het
Tcp11 T A 17: 28,288,565 (GRCm39) Q331L probably benign Het
Tmem106a T A 11: 101,481,222 (GRCm39) Y243* probably null Het
Tmem268 C T 4: 63,502,108 (GRCm39) T312M probably damaging Het
Ttc9 T G 12: 81,707,379 (GRCm39) V146G probably damaging Het
Ubr3 T A 2: 69,850,865 (GRCm39) I1758N probably damaging Het
Unc13a G A 8: 72,098,359 (GRCm39) T1142I probably benign Het
Vipr1 T C 9: 121,493,732 (GRCm39) L261P probably damaging Het
Vmn1r222 A T 13: 23,416,607 (GRCm39) V202E probably damaging Het
Zfp78 A G 7: 6,381,280 (GRCm39) N110S probably benign Het
Other mutations in Clrn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0550:Clrn3 UTSW 7 135,130,154 (GRCm39) missense possibly damaging 0.76
R1676:Clrn3 UTSW 7 135,120,307 (GRCm39) missense probably damaging 0.96
R1935:Clrn3 UTSW 7 135,115,753 (GRCm39) missense possibly damaging 0.84
R1936:Clrn3 UTSW 7 135,115,753 (GRCm39) missense possibly damaging 0.84
R1950:Clrn3 UTSW 7 135,115,813 (GRCm39) missense possibly damaging 0.46
R1993:Clrn3 UTSW 7 135,115,848 (GRCm39) missense probably benign
R3440:Clrn3 UTSW 7 135,115,854 (GRCm39) nonsense probably null
R3441:Clrn3 UTSW 7 135,115,854 (GRCm39) nonsense probably null
R3890:Clrn3 UTSW 7 135,120,194 (GRCm39) missense possibly damaging 0.74
R3891:Clrn3 UTSW 7 135,120,194 (GRCm39) missense possibly damaging 0.74
R5537:Clrn3 UTSW 7 135,115,791 (GRCm39) missense probably benign 0.01
R7330:Clrn3 UTSW 7 135,130,198 (GRCm39) missense probably damaging 0.99
R8165:Clrn3 UTSW 7 135,130,133 (GRCm39) missense probably benign 0.00
X0066:Clrn3 UTSW 7 135,115,926 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCATATTCCACCGGCTTCC -3'
(R):5'- GTTAATGTTCGTTGGCTTCCAC -3'

Sequencing Primer
(F):5'- ATATTCCACCGGCTTCCTCTGC -3'
(R):5'- TCCACGTGTGTACACATACATG -3'
Posted On 2021-03-08