Incidental Mutation 'R4415:Rdh14'
ID 326805
Institutional Source Beutler Lab
Gene Symbol Rdh14
Ensembl Gene ENSMUSG00000020621
Gene Name retinol dehydrogenase 14 (all-trans and 9-cis)
Synonyms PAN2, 3110030G19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R4415 (G1)
Quality Score 92
Status Not validated
Chromosome 12
Chromosomal Location 10440772-10445562 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 10441231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002456] [ENSMUST00000020947] [ENSMUST00000118657] [ENSMUST00000147323] [ENSMUST00000217944] [ENSMUST00000218026] [ENSMUST00000218287] [ENSMUST00000220257] [ENSMUST00000218417] [ENSMUST00000218551] [ENSMUST00000218327] [ENSMUST00000218339] [ENSMUST00000219292] [ENSMUST00000219049] [ENSMUST00000219826] [ENSMUST00000223534] [ENSMUST00000220611]
AlphaFold Q9ERI6
Predicted Effect probably benign
Transcript: ENSMUST00000002456
SMART Domains Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622

DomainStartEndE-ValueType
low complexity region 93 105 N/A INTRINSIC
low complexity region 137 145 N/A INTRINSIC
low complexity region 227 233 N/A INTRINSIC
Pfam:5-nucleotidase 298 570 1.6e-106 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000020947
SMART Domains Protein: ENSMUSP00000020947
Gene: ENSMUSG00000020621

DomainStartEndE-ValueType
transmembrane domain 2 21 N/A INTRINSIC
Pfam:KR 45 199 3.4e-10 PFAM
Pfam:adh_short 45 258 5.4e-34 PFAM
Pfam:Epimerase 47 248 7.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118657
SMART Domains Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622

DomainStartEndE-ValueType
low complexity region 91 103 N/A INTRINSIC
low complexity region 135 143 N/A INTRINSIC
low complexity region 225 231 N/A INTRINSIC
Pfam:5-nucleotidase 280 553 7e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147323
SMART Domains Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622

DomainStartEndE-ValueType
low complexity region 93 105 N/A INTRINSIC
low complexity region 137 145 N/A INTRINSIC
low complexity region 227 233 N/A INTRINSIC
Pfam:5-nucleotidase 298 466 4.8e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217944
Predicted Effect probably benign
Transcript: ENSMUST00000218026
Predicted Effect probably benign
Transcript: ENSMUST00000218287
Predicted Effect probably benign
Transcript: ENSMUST00000218288
Predicted Effect probably benign
Transcript: ENSMUST00000220257
Predicted Effect probably benign
Transcript: ENSMUST00000218417
Predicted Effect probably benign
Transcript: ENSMUST00000218551
Predicted Effect probably benign
Transcript: ENSMUST00000218327
Predicted Effect probably benign
Transcript: ENSMUST00000219630
Predicted Effect probably benign
Transcript: ENSMUST00000218339
Predicted Effect probably benign
Transcript: ENSMUST00000219292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218148
Predicted Effect probably benign
Transcript: ENSMUST00000219049
Predicted Effect probably benign
Transcript: ENSMUST00000219826
Predicted Effect probably benign
Transcript: ENSMUST00000223534
Predicted Effect probably benign
Transcript: ENSMUST00000220611
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 A T 11: 105,895,947 (GRCm39) D631V probably benign Het
Adam17 T C 12: 21,395,702 (GRCm39) I274V possibly damaging Het
Aebp1 A G 11: 5,815,451 (GRCm39) D303G probably damaging Het
B020004C17Rik T C 14: 57,254,874 (GRCm39) *233R probably null Het
Bcl9l C T 9: 44,413,176 (GRCm39) P127S possibly damaging Het
Bdp1 T C 13: 100,167,369 (GRCm39) D2215G probably damaging Het
Caly T C 7: 139,652,593 (GRCm39) T52A probably damaging Het
Ccdc125 T C 13: 100,832,817 (GRCm39) S465P possibly damaging Het
Cdc23 ACC AC 18: 34,770,371 (GRCm39) probably null Het
Colq T C 14: 31,257,645 (GRCm39) K231E probably damaging Het
Fam32a T A 8: 72,975,785 (GRCm39) I77N probably damaging Het
Impdh1 C T 6: 29,209,221 (GRCm39) V49M probably damaging Het
Kcnh7 A G 2: 62,536,417 (GRCm39) I1055T probably damaging Het
Lad1 A G 1: 135,756,484 (GRCm39) D364G probably benign Het
Lama2 G T 10: 26,865,340 (GRCm39) Y947* probably null Het
Myo5b T A 18: 74,713,479 (GRCm39) I108N probably damaging Het
Nvl T C 1: 180,932,679 (GRCm39) T713A probably benign Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Or6c70 T C 10: 129,709,826 (GRCm39) T267A probably benign Het
Pappa A G 4: 65,223,532 (GRCm39) T1236A probably benign Het
Pip4p2 C T 4: 14,912,463 (GRCm39) R191C probably damaging Het
Rcl1 G A 19: 29,095,762 (GRCm39) V116I probably benign Het
Rfx2 T A 17: 57,094,733 (GRCm39) T204S possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Ripor1 T C 8: 106,344,608 (GRCm39) S581P probably benign Het
Rnf213 T A 11: 119,374,790 (GRCm39) V5084E probably damaging Het
Scn9a A T 2: 66,357,037 (GRCm39) V1077E probably damaging Het
Slc15a5 A G 6: 138,056,754 (GRCm39) V54A probably benign Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Snx19 T A 9: 30,348,779 (GRCm39) L804Q probably damaging Het
Spata31e5 T A 1: 28,816,214 (GRCm39) Q606L probably benign Het
Specc1l C A 10: 75,082,162 (GRCm39) N519K possibly damaging Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Stambp A T 6: 83,534,464 (GRCm39) N274K probably damaging Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Tacc3 T G 5: 33,824,028 (GRCm39) probably null Het
Tubb1 G A 2: 174,299,466 (GRCm39) E383K probably benign Het
Ube3b A T 5: 114,550,505 (GRCm39) D844V probably damaging Het
Other mutations in Rdh14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Rdh14 APN 12 10,441,134 (GRCm39) missense probably damaging 0.98
IGL00928:Rdh14 APN 12 10,444,803 (GRCm39) missense probably damaging 1.00
IGL02207:Rdh14 APN 12 10,444,712 (GRCm39) missense possibly damaging 0.81
H8562:Rdh14 UTSW 12 10,444,709 (GRCm39) missense probably damaging 1.00
R1521:Rdh14 UTSW 12 10,444,613 (GRCm39) missense probably damaging 1.00
R1943:Rdh14 UTSW 12 10,441,162 (GRCm39) missense probably benign 0.09
R3980:Rdh14 UTSW 12 10,444,703 (GRCm39) missense probably benign 0.04
R4289:Rdh14 UTSW 12 10,444,949 (GRCm39) missense probably benign 0.00
R4414:Rdh14 UTSW 12 10,441,231 (GRCm39) splice site probably null
R4417:Rdh14 UTSW 12 10,441,231 (GRCm39) splice site probably null
R4594:Rdh14 UTSW 12 10,444,567 (GRCm39) missense probably damaging 1.00
R5397:Rdh14 UTSW 12 10,444,869 (GRCm39) missense probably damaging 0.99
R6618:Rdh14 UTSW 12 10,445,123 (GRCm39) missense probably benign 0.24
R8088:Rdh14 UTSW 12 10,444,551 (GRCm39) missense probably damaging 1.00
R8418:Rdh14 UTSW 12 10,444,580 (GRCm39) missense probably damaging 0.96
R9651:Rdh14 UTSW 12 10,441,118 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGATCACCGGAGCAAACAG -3'
(R):5'- AGACACTGGCTTATTTATGCACTTC -3'

Sequencing Primer
(F):5'- GCGCGGGTCATCATGGG -3'
(R):5'- CTCCTTAGGACCTCCCAGGAATTC -3'
Posted On 2015-07-07