Incidental Mutation 'R5401:Cdv3'
ID429999
Institutional Source Beutler Lab
Gene Symbol Cdv3
Ensembl Gene ENSMUSG00000032803
Gene Namecarnitine deficiency-associated gene expressed in ventricle 3
Synonyms2510010F10Rik, C230084J24Rik, TPP36
MMRRC Submission 042972-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #R5401 (G1)
Quality Score130
Status Validated
Chromosome9
Chromosomal Location103353094-103365840 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to T at 103365117 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035484] [ENSMUST00000072249] [ENSMUST00000116517] [ENSMUST00000189896] [ENSMUST00000190226]
Predicted Effect unknown
Transcript: ENSMUST00000035484
AA Change: D84E
SMART Domains Protein: ENSMUSP00000044420
Gene: ENSMUSG00000032803
AA Change: D84E

DomainStartEndE-ValueType
low complexity region 14 100 N/A INTRINSIC
Pfam:CDV3 106 226 3.4e-41 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000072249
AA Change: D84E
SMART Domains Protein: ENSMUSP00000072101
Gene: ENSMUSG00000032803
AA Change: D84E

DomainStartEndE-ValueType
low complexity region 14 100 N/A INTRINSIC
Pfam:CDV3 105 231 7.4e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116517
SMART Domains Protein: ENSMUSP00000112216
Gene: ENSMUSG00000032803

DomainStartEndE-ValueType
Pfam:CDV3 1 104 2.9e-55 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000189875
AA Change: D3E
Predicted Effect unknown
Transcript: ENSMUST00000189896
AA Change: D84E
SMART Domains Protein: ENSMUSP00000139440
Gene: ENSMUSG00000032803
AA Change: D84E

DomainStartEndE-ValueType
low complexity region 14 100 N/A INTRINSIC
Pfam:CDV3 105 231 1.6e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190127
Predicted Effect probably benign
Transcript: ENSMUST00000190226
SMART Domains Protein: ENSMUSP00000140900
Gene: ENSMUSG00000032803

DomainStartEndE-ValueType
Pfam:CDV3 1 104 1.3e-51 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik A G 9: 40,051,042 noncoding transcript Het
1700025H01Rik G T 16: 30,199,983 noncoding transcript Het
2210016F16Rik C A 13: 58,382,591 A202S probably benign Het
2410141K09Rik T C 13: 66,431,663 R254G probably benign Het
9330159F19Rik T C 10: 29,225,140 V503A probably benign Het
Acacb A G 5: 114,209,853 N995S possibly damaging Het
Anapc4 A G 5: 52,863,649 K630R probably benign Het
Ankrd13a A C 5: 114,792,173 Q206H probably damaging Het
Ano10 A T 9: 122,261,290 L319Q probably damaging Het
Asna1 A T 8: 85,018,544 I298N possibly damaging Het
Camkk2 T A 5: 122,746,335 D341V probably damaging Het
Ccdc88a A G 11: 29,463,279 I606V probably benign Het
Cep97 A G 16: 55,924,952 V155A probably benign Het
Cmya5 T C 13: 93,091,968 E2204G probably damaging Het
Cracr2b A G 7: 141,466,223 *395W probably null Het
Defa27 A G 8: 21,315,694 E50G possibly damaging Het
Dnah7a A G 1: 53,631,653 I480T probably benign Het
Ep400 C A 5: 110,683,171 D2210Y unknown Het
Fam170a T A 18: 50,280,551 S28T probably benign Het
Fancc C A 13: 63,402,953 K18N probably damaging Het
Flt4 AC ACC 11: 49,651,034 probably null Het
Fndc8 T G 11: 82,897,850 S169A possibly damaging Het
Herc1 T C 9: 66,502,056 Y4688H probably damaging Het
Ighv11-2 A T 12: 114,048,339 D85E possibly damaging Het
Kat14 T C 2: 144,389,260 F196L possibly damaging Het
Kctd19 C T 8: 105,382,985 V942I probably benign Het
Llgl1 A G 11: 60,706,471 S249G probably benign Het
Map1a T C 2: 121,299,672 V323A probably damaging Het
Olfr734 C A 14: 50,320,109 C242F probably damaging Het
Phf21a C A 2: 92,351,752 T342K possibly damaging Het
Piezo2 T A 18: 63,084,740 D1122V possibly damaging Het
Pklr A G 3: 89,141,866 Y173C probably damaging Het
Plcz1 G T 6: 139,993,052 probably null Het
Polr3a T C 14: 24,454,941 I1084V possibly damaging Het
Prom1 A T 5: 44,000,805 Y845N probably damaging Het
Ret A T 6: 118,181,975 S159T probably benign Het
Rfx1 C A 8: 84,066,376 probably null Het
Scp2 A T 4: 108,144,779 probably null Het
Sh3bp5 C A 14: 31,377,495 R265L probably benign Het
Slc22a30 G A 19: 8,344,393 Q436* probably null Het
Smad5 T C 13: 56,727,469 F157L probably benign Het
Smarcc2 C A 10: 128,465,504 D210E probably damaging Het
Sptlc3 T C 2: 139,636,723 L534P possibly damaging Het
Srrm1 A G 4: 135,324,069 probably benign Het
Srsf11 C T 3: 158,023,344 probably benign Het
Sugct T A 13: 16,857,870 Q432H probably damaging Het
Tex9 A T 9: 72,486,778 probably null Het
Tsc1 C A 2: 28,686,908 S1073* probably null Het
Vmn1r72 T C 7: 11,669,916 S202G probably damaging Het
Vmn2r55 A G 7: 12,651,944 V703A probably benign Het
Vmn2r67 A T 7: 85,136,557 Y747N probably damaging Het
Zcchc4 A G 5: 52,807,077 I292V probably benign Het
Zswim2 C T 2: 83,925,245 G104E possibly damaging Het
Other mutations in Cdv3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:Cdv3 APN 9 103360025 splice site probably benign
IGL02641:Cdv3 APN 9 103364024 missense probably damaging 1.00
LCD18:Cdv3 UTSW 9 103365343 unclassified probably benign
LCD18:Cdv3 UTSW 9 103365354 unclassified probably benign
R2422:Cdv3 UTSW 9 103365118 unclassified probably benign
R5386:Cdv3 UTSW 9 103355230 missense possibly damaging 0.92
R5995:Cdv3 UTSW 9 103364003 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAAGAACATGAAATCCGGCCC -3'
(R):5'- AGCCTGGACAACTTCTTCG -3'

Sequencing Primer
(F):5'- ACTCGGGCACACGTCAC -3'
(R):5'- TGGACAACTTCTTCGCCAAGAGG -3'
Posted On2016-09-06