Incidental Mutation 'R8418:Rdh14'
ID 653056
Institutional Source Beutler Lab
Gene Symbol Rdh14
Ensembl Gene ENSMUSG00000020621
Gene Name retinol dehydrogenase 14 (all-trans and 9-cis)
Synonyms PAN2, 3110030G19Rik
MMRRC Submission 067897-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R8418 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 10440772-10445562 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10444580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 144 (F144L)
Ref Sequence ENSEMBL: ENSMUSP00000020947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002456] [ENSMUST00000020947] [ENSMUST00000118657] [ENSMUST00000147323] [ENSMUST00000217944] [ENSMUST00000218026] [ENSMUST00000218287] [ENSMUST00000218327] [ENSMUST00000218339] [ENSMUST00000218417] [ENSMUST00000218551] [ENSMUST00000219049] [ENSMUST00000219292] [ENSMUST00000219826] [ENSMUST00000220257] [ENSMUST00000220611] [ENSMUST00000223534]
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 damaging
Transcript: ENSMUST00000020947
AA Change: F144L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020947
Gene: ENSMUSG00000020621
AA Change: F144L

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: ENSMUST00000218327
Predicted Effect probably benign
Transcript: ENSMUST00000218339
Predicted Effect probably benign
Transcript: ENSMUST00000218417
Predicted Effect probably benign
Transcript: ENSMUST00000218551
Predicted Effect probably benign
Transcript: ENSMUST00000219049
Predicted Effect probably benign
Transcript: ENSMUST00000219292
Predicted Effect probably benign
Transcript: ENSMUST00000219630
Predicted Effect probably benign
Transcript: ENSMUST00000219826
Predicted Effect probably benign
Transcript: ENSMUST00000220257
Predicted Effect probably benign
Transcript: ENSMUST00000220611
Predicted Effect probably benign
Transcript: ENSMUST00000223534
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 T C 17: 43,021,477 (GRCm39) H449R probably benign Het
Arfgef2 T C 2: 166,698,468 (GRCm39) V646A probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Ccdc62 C T 5: 124,084,455 (GRCm39) R279* probably null Het
Cimip2b A G 4: 43,427,204 (GRCm39) L76P unknown Het
Col6a5 G T 9: 105,755,821 (GRCm39) P2201Q probably damaging Het
Cpa3 T C 3: 20,276,315 (GRCm39) Y306C probably damaging Het
Cpne9 A G 6: 113,260,398 (GRCm39) N82D possibly damaging Het
Dcaf17 T A 2: 70,918,717 (GRCm39) D430E probably damaging Het
Dcst2 T C 3: 89,278,901 (GRCm39) V546A probably benign Het
Dennd1a T C 2: 37,748,403 (GRCm39) T359A probably benign Het
Dgkb C A 12: 38,380,016 (GRCm39) H591N probably damaging Het
Dnah17 G A 11: 117,994,284 (GRCm39) S1047F probably benign Het
Dock2 A G 11: 34,609,795 (GRCm39) I215T probably benign Het
Efcab12 A G 6: 115,799,076 (GRCm39) probably null Het
Erich3 C T 3: 154,415,378 (GRCm39) R165C Het
Gabrr1 C T 4: 33,162,615 (GRCm39) R394* probably null Het
Garnl3 G T 2: 32,942,158 (GRCm39) Q153K possibly damaging Het
Gars1 A G 6: 55,042,446 (GRCm39) N393S probably damaging Het
Gbp2b A T 3: 142,309,466 (GRCm39) E192D probably benign Het
Gm28360 A T 1: 117,781,357 (GRCm39) H116L probably benign Het
Gm9602 T A 14: 15,935,348 (GRCm39) probably benign Het
Gp1bb T A 16: 18,440,103 (GRCm39) H5L unknown Het
Grik3 A G 4: 125,579,835 (GRCm39) K527E possibly damaging Het
Hhip T C 8: 80,771,714 (GRCm39) M199V probably damaging Het
Irgm1 A G 11: 48,757,166 (GRCm39) V231A probably damaging Het
Itgal A T 7: 126,929,454 (GRCm39) I1124F probably benign Het
Kash5 A G 7: 44,843,501 (GRCm39) L241P probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Miga1 T G 3: 151,990,954 (GRCm39) Y433S probably damaging Het
Muc16 A T 9: 18,430,926 (GRCm39) I8062K possibly damaging Het
Ntsr2 T G 12: 16,706,662 (GRCm39) V230G possibly damaging Het
Or52ab2 A G 7: 102,970,278 (GRCm39) Y220C Het
Ptpn2 G A 18: 67,814,592 (GRCm39) T139M probably damaging Het
Pum2 T A 12: 8,760,245 (GRCm39) D145E possibly damaging Het
Radil T C 5: 142,480,676 (GRCm39) E593G probably benign Het
Sec23ip T G 7: 128,380,187 (GRCm39) D867E probably damaging Het
Serpina6 T C 12: 103,613,187 (GRCm39) Y371C probably damaging Het
Snx13 T A 12: 35,148,233 (GRCm39) I254N probably damaging Het
Tacc1 T C 8: 25,731,532 (GRCm39) K7E probably damaging Het
Thoc2l C A 5: 104,667,724 (GRCm39) Q749K possibly damaging Het
Timeless A C 10: 128,086,605 (GRCm39) N1048T probably benign Het
Tll2 C A 19: 41,081,276 (GRCm39) E732D probably damaging Het
Tmem171 A G 13: 98,828,740 (GRCm39) S137P probably damaging Het
Ttll3 A T 6: 113,371,734 (GRCm39) M44L probably benign Het
Vmn2r29 T A 7: 7,244,939 (GRCm39) I312L probably benign Het
Vmn2r43 A T 7: 8,258,583 (GRCm39) L210* probably null Het
Vmn2r60 A G 7: 41,844,850 (GRCm39) I738V probably damaging Het
Zfp977 T A 7: 42,229,410 (GRCm39) M372L probably benign 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
R4415: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
R9651:Rdh14 UTSW 12 10,441,118 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACAGTGCTTCAAATAGTTCCCAG -3'
(R):5'- GTTTGCTTCGACTATAACAGAAGC -3'

Sequencing Primer
(F):5'- GTGCTTCAAATAGTTCCCAGATAAAC -3'
(R):5'- GCTCACTGTTCAAGTCTTCAAAG -3'
Posted On 2020-10-20