Incidental Mutation 'R6474:Clrn2'
ID 516726
Institutional Source Beutler Lab
Gene Symbol Clrn2
Ensembl Gene ENSMUSG00000049530
Gene Name clarin 2
Synonyms EG624224, mpc169H
MMRRC Submission 044607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R6474 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 45611093-45621491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45621074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 156 (M156K)
Ref Sequence ENSEMBL: ENSMUSP00000058204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053250]
AlphaFold B2RVW2
Predicted Effect probably benign
Transcript: ENSMUST00000053250
AA Change: M156K

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000058204
Gene: ENSMUSG00000049530
AA Change: M156K

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
transmembrane domain 102 124 N/A INTRINSIC
transmembrane domain 137 159 N/A INTRINSIC
low complexity region 176 187 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 T A 8: 71,914,359 (GRCm39) N90Y probably damaging Het
Alkal1 T C 1: 6,459,670 (GRCm39) V82A probably damaging Het
Ascc3 T C 10: 50,624,932 (GRCm39) S1607P probably benign Het
Ccny A T 18: 9,345,427 (GRCm39) L149H probably damaging Het
Clptm1 T C 7: 19,369,762 (GRCm39) N383D possibly damaging Het
Coro2b T A 9: 62,333,910 (GRCm39) H328L probably benign Het
Echs1 A T 7: 139,688,055 (GRCm39) M250K probably benign Het
Ecsit A G 9: 21,985,981 (GRCm39) V145A possibly damaging Het
Fas G A 19: 34,293,969 (GRCm39) G108D probably damaging Het
Folh1 A G 7: 86,424,964 (GRCm39) W2R probably damaging Het
Gba1 C T 3: 89,111,388 (GRCm39) P51L probably benign Het
Grik2 C T 10: 49,008,776 (GRCm39) M770I probably benign Het
Hcst T C 7: 30,117,250 (GRCm39) N74S probably damaging Het
Hdac9 T A 12: 34,481,990 (GRCm39) probably null Het
Hsfy2 T A 1: 56,676,150 (GRCm39) D129V probably damaging Het
Htt T C 5: 34,982,239 (GRCm39) V941A probably benign Het
Naip5 A G 13: 100,351,171 (GRCm39) V1279A possibly damaging Het
Neb T A 2: 52,170,624 (GRCm39) M1683L probably benign Het
Nudt21 C T 8: 94,746,282 (GRCm39) V139I probably benign Het
Or5e1 T C 7: 108,354,236 (GRCm39) Y58H probably damaging Het
Pex2 A G 3: 5,626,191 (GRCm39) F206S probably damaging Het
Plek2 C A 12: 78,943,065 (GRCm39) R77L probably benign Het
Ppfia1 A T 7: 144,059,942 (GRCm39) D623E possibly damaging Het
Ppm1l T A 3: 69,460,374 (GRCm39) I317N probably damaging Het
Prkacb T A 3: 146,461,479 (GRCm39) T36S probably damaging Het
Sphkap T A 1: 83,256,544 (GRCm39) I115F probably damaging Het
Sprtn G T 8: 125,625,873 (GRCm39) E95* probably null Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tcap C A 11: 98,275,003 (GRCm39) Q46K probably benign Het
Thada T C 17: 84,751,339 (GRCm39) I546V possibly damaging Het
Tubal3 T A 13: 3,983,107 (GRCm39) S296T probably benign Het
Ube3a A G 7: 58,936,772 (GRCm39) N683D probably damaging Het
Vmn2r82 T G 10: 79,214,871 (GRCm39) L285V possibly damaging Het
Zfp871 T C 17: 32,994,647 (GRCm39) D157G possibly damaging Het
Other mutations in Clrn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Clrn2 APN 5 45,621,311 (GRCm39) utr 3 prime probably benign
IGL01538:Clrn2 APN 5 45,617,408 (GRCm39) missense probably damaging 1.00
IGL01585:Clrn2 APN 5 45,617,500 (GRCm39) missense probably benign 0.00
IGL01783:Clrn2 APN 5 45,617,503 (GRCm39) missense probably benign
IGL02479:Clrn2 APN 5 45,621,254 (GRCm39) missense probably benign 0.03
IGL02709:Clrn2 APN 5 45,617,495 (GRCm39) missense probably damaging 1.00
IGL03220:Clrn2 APN 5 45,621,070 (GRCm39) missense probably damaging 1.00
R1443:Clrn2 UTSW 5 45,617,453 (GRCm39) missense probably damaging 1.00
R1942:Clrn2 UTSW 5 45,611,337 (GRCm39) missense probably benign 0.26
R2258:Clrn2 UTSW 5 45,611,304 (GRCm39) missense probably benign 0.03
R4806:Clrn2 UTSW 5 45,611,346 (GRCm39) missense probably damaging 1.00
R5943:Clrn2 UTSW 5 45,621,061 (GRCm39) missense probably benign 0.01
R5987:Clrn2 UTSW 5 45,611,369 (GRCm39) missense probably benign 0.09
R6029:Clrn2 UTSW 5 45,617,528 (GRCm39) missense probably damaging 1.00
R6371:Clrn2 UTSW 5 45,617,540 (GRCm39) missense possibly damaging 0.62
R6881:Clrn2 UTSW 5 45,611,164 (GRCm39) nonsense probably null
R6939:Clrn2 UTSW 5 45,611,096 (GRCm39) unclassified probably benign
R7156:Clrn2 UTSW 5 45,611,258 (GRCm39) missense probably damaging 0.99
R7186:Clrn2 UTSW 5 45,611,115 (GRCm39) unclassified probably benign
R7392:Clrn2 UTSW 5 45,621,251 (GRCm39) missense possibly damaging 0.52
R8495:Clrn2 UTSW 5 45,617,485 (GRCm39) missense possibly damaging 0.85
R9152:Clrn2 UTSW 5 45,621,254 (GRCm39) missense probably benign 0.03
R9214:Clrn2 UTSW 5 45,617,518 (GRCm39) missense probably benign 0.31
R9227:Clrn2 UTSW 5 45,621,283 (GRCm39) missense probably damaging 0.99
R9230:Clrn2 UTSW 5 45,621,283 (GRCm39) missense probably damaging 0.99
R9458:Clrn2 UTSW 5 45,617,513 (GRCm39) missense possibly damaging 0.74
R9685:Clrn2 UTSW 5 45,611,331 (GRCm39) missense possibly damaging 0.81
R9772:Clrn2 UTSW 5 45,611,369 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GTGATGCTCTATCAGTTCTTAAAACCC -3'
(R):5'- GGGAATTTGACTGATTGCCACC -3'

Sequencing Primer
(F):5'- TAATCCCAGCACTTTGGAGG -3'
(R):5'- CACAACCAAGTTTGCTGCGTG -3'
Posted On 2018-05-21