Incidental Mutation 'R0097:Cldnd1'
ID 41174
Institutional Source Beutler Lab
Gene Symbol Cldnd1
Ensembl Gene ENSMUSG00000022744
Gene Name claudin domain containing 1
Synonyms 1110019C08Rik, Cldn25
MMRRC Submission 038383-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R0097 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 58548269-58554610 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58550078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 87 (N87S)
Ref Sequence ENSEMBL: ENSMUSP00000124461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023426] [ENSMUST00000159944] [ENSMUST00000162057] [ENSMUST00000162191]
AlphaFold Q9CQX5
Predicted Effect probably benign
Transcript: ENSMUST00000023426
AA Change: N87S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000023426
Gene: ENSMUSG00000022744
AA Change: N87S

DomainStartEndE-ValueType
Pfam:Claudin_2 17 235 9.2e-25 PFAM
Pfam:PMP22_Claudin 101 233 7.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159829
Predicted Effect possibly damaging
Transcript: ENSMUST00000159944
AA Change: N87S

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124455
Gene: ENSMUSG00000022744
AA Change: N87S

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162057
AA Change: N87S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000125497
Gene: ENSMUSG00000022744
AA Change: N87S

DomainStartEndE-ValueType
Pfam:Claudin_2 17 235 1.2e-24 PFAM
Pfam:PMP22_Claudin 101 233 7.4e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162191
AA Change: N87S

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124461
Gene: ENSMUSG00000022744
AA Change: N87S

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162249
Meta Mutation Damage Score 0.2021 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,206,129 (GRCm39) I353K probably benign Het
Albfm1 T A 5: 90,732,795 (GRCm39) S535R probably benign Het
Arfgap2 T A 2: 91,105,160 (GRCm39) V422E probably benign Het
Baz1b T C 5: 135,227,113 (GRCm39) S105P probably benign Het
Bbs10 T C 10: 111,134,705 (GRCm39) V41A probably damaging Het
Cacna1s T A 1: 136,028,360 (GRCm39) M899K possibly damaging Het
Ccnd2 G A 6: 127,123,015 (GRCm39) A180V probably benign Het
Ciao3 T C 17: 25,995,976 (GRCm39) S67P possibly damaging Het
Cyp2c54 T A 19: 40,036,102 (GRCm39) probably benign Het
Cyp2c54 G T 19: 40,036,103 (GRCm39) probably benign Het
Dab2ip G A 2: 35,608,928 (GRCm39) V629M possibly damaging Het
Ddx41 A T 13: 55,683,691 (GRCm39) probably benign Het
Dmrta1 A T 4: 89,577,109 (GRCm39) R188S probably benign Het
Eml3 T A 19: 8,914,015 (GRCm39) F465L probably benign Het
Gm9938 T A 19: 23,701,828 (GRCm39) probably benign Het
Gpr87 G A 3: 59,086,506 (GRCm39) T333I probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Llgl2 T A 11: 115,735,323 (GRCm39) Y59* probably null Het
Lzic A G 4: 149,572,533 (GRCm39) E41G probably damaging Het
Mprip T A 11: 59,649,317 (GRCm39) L1007Q possibly damaging Het
Mtfr2 T A 10: 20,224,122 (GRCm39) S19T probably damaging Het
Mycbp2 A T 14: 103,393,198 (GRCm39) M3121K probably damaging Het
Myocd T A 11: 65,069,840 (GRCm39) M667L possibly damaging Het
Ncam2 A G 16: 81,314,425 (GRCm39) D467G probably damaging Het
Neb T C 2: 52,094,906 (GRCm39) N4882S probably damaging Het
Neu2 A G 1: 87,525,188 (GRCm39) D391G probably benign Het
Nol4 C A 18: 22,852,198 (GRCm39) A456S probably benign Het
Or5m13 T C 2: 85,749,184 (GRCm39) V305A probably benign Het
Padi6 C T 4: 140,458,268 (GRCm39) V513M probably benign Het
Pign G A 1: 105,515,701 (GRCm39) probably benign Het
Plpp2 T C 10: 79,366,371 (GRCm39) E91G possibly damaging Het
Pnp T A 14: 51,188,873 (GRCm39) V222D probably damaging Het
Pnp2 C T 14: 51,200,958 (GRCm39) R148C probably benign Het
Pramel30 T C 4: 144,057,857 (GRCm39) S155P probably benign Het
Prss38 A G 11: 59,266,434 (GRCm39) L8S possibly damaging Het
Rab5b A T 10: 128,518,809 (GRCm39) F108I probably damaging Het
Rbbp5 T A 1: 132,418,227 (GRCm39) H15Q possibly damaging Het
Rhox4f A C X: 36,789,122 (GRCm39) V15G probably benign Het
Rsl1 A C 13: 67,329,966 (GRCm39) Q138P probably damaging Het
Ryr3 T C 2: 112,630,400 (GRCm39) D2157G probably damaging Het
Secisbp2l T C 2: 125,613,376 (GRCm39) D206G probably damaging Het
Sh3pxd2b T A 11: 32,353,978 (GRCm39) I182N probably damaging Het
Slc3a1 A T 17: 85,340,288 (GRCm39) I237F probably damaging Het
Svs3b T C 2: 164,098,159 (GRCm39) E54G probably damaging Het
T A T 17: 8,658,733 (GRCm39) probably benign Het
Tenm4 A T 7: 96,542,133 (GRCm39) D1882V probably damaging Het
Tgfbr1 T A 4: 47,403,451 (GRCm39) L283* probably null Het
Tppp3 C T 8: 106,194,554 (GRCm39) A149T probably benign Het
Ubp1 T C 9: 113,802,575 (GRCm39) probably benign Het
Ushbp1 C T 8: 71,843,357 (GRCm39) C314Y probably damaging Het
Vav2 A T 2: 27,189,374 (GRCm39) probably benign Het
Vmn1r228 T C 17: 20,996,625 (GRCm39) M298V probably benign Het
Zmpste24 A T 4: 120,952,740 (GRCm39) probably benign Het
Other mutations in Cldnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03110:Cldnd1 APN 16 58,549,959 (GRCm39) missense possibly damaging 0.67
R0010:Cldnd1 UTSW 16 58,551,622 (GRCm39) intron probably benign
R0010:Cldnd1 UTSW 16 58,551,622 (GRCm39) intron probably benign
R0131:Cldnd1 UTSW 16 58,553,355 (GRCm39) missense probably damaging 1.00
R1577:Cldnd1 UTSW 16 58,553,016 (GRCm39) missense possibly damaging 0.79
R4745:Cldnd1 UTSW 16 58,550,006 (GRCm39) missense probably benign 0.21
R5323:Cldnd1 UTSW 16 58,550,016 (GRCm39) missense possibly damaging 0.77
R6226:Cldnd1 UTSW 16 58,551,663 (GRCm39) critical splice acceptor site probably null
R6987:Cldnd1 UTSW 16 58,551,734 (GRCm39) missense probably benign 0.09
R7337:Cldnd1 UTSW 16 58,549,322 (GRCm39) splice site probably null
R7476:Cldnd1 UTSW 16 58,549,907 (GRCm39) missense probably damaging 0.96
R7942:Cldnd1 UTSW 16 58,550,078 (GRCm39) missense possibly damaging 0.79
R9199:Cldnd1 UTSW 16 58,553,070 (GRCm39) missense probably damaging 1.00
Z1177:Cldnd1 UTSW 16 58,550,044 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCCACCATCTACATGGCGGC -3'
(R):5'- ACTGTTCAAGCGAATTCCTCGTGAC -3'

Sequencing Primer
(F):5'- CTCCATAGGCACGGACTTC -3'
(R):5'- TTGATCACAATATGAGGTGCCG -3'
Posted On 2013-05-23