Incidental Mutation 'R7958:Dhrs4'
ID 649967
Institutional Source Beutler Lab
Gene Symbol Dhrs4
Ensembl Gene ENSMUSG00000022210
Gene Name dehydrogenase/reductase 4
Synonyms dehydrogenase/reductase (SDR family) member 4, RRD, D14Ucla2
MMRRC Submission 046002-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R7958 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55716215-55727797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55725078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 191 (L191P)
Ref Sequence ENSEMBL: ENSMUSP00000022821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022821] [ENSMUST00000076236] [ENSMUST00000226168] [ENSMUST00000226298] [ENSMUST00000226757] [ENSMUST00000227488] [ENSMUST00000228877]
AlphaFold Q99LB2
Predicted Effect probably damaging
Transcript: ENSMUST00000022821
AA Change: L191P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022821
Gene: ENSMUSG00000022210
AA Change: L191P

DomainStartEndE-ValueType
Pfam:adh_short 34 229 7.8e-54 PFAM
Pfam:KR 35 210 8.4e-14 PFAM
Pfam:adh_short_C2 39 276 7.9e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076236
SMART Domains Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211

DomainStartEndE-ValueType
low complexity region 138 151 N/A INTRINSIC
internal_repeat_1 203 297 7.56e-6 PROSPERO
Blast:LRR 333 362 5e-10 BLAST
Blast:LRR 423 446 1e-5 BLAST
low complexity region 447 462 N/A INTRINSIC
low complexity region 468 479 N/A INTRINSIC
internal_repeat_1 496 593 7.56e-6 PROSPERO
Pfam:CARMIL_C 778 1065 5.3e-76 PFAM
low complexity region 1068 1117 N/A INTRINSIC
low complexity region 1137 1146 N/A INTRINSIC
low complexity region 1204 1216 N/A INTRINSIC
low complexity region 1318 1329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226168
Predicted Effect probably benign
Transcript: ENSMUST00000226298
Predicted Effect probably benign
Transcript: ENSMUST00000226757
Predicted Effect probably damaging
Transcript: ENSMUST00000226902
AA Change: L110P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000227488
Predicted Effect probably benign
Transcript: ENSMUST00000228353
Predicted Effect probably benign
Transcript: ENSMUST00000228877
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (55/55)
MGI Phenotype PHENOTYPE: Homozygous mutant mice exhibit a decreased mean serum IgG2a response to ovalbumin challenge when compared with that of controls. Female mutants exhibit an increased depressive-like response during tail suspension testing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,911,464 (GRCm39) T571S probably benign Het
Abca8a A G 11: 109,922,498 (GRCm39) Y1362H probably damaging Het
Aldh1l2 C T 10: 83,356,202 (GRCm39) V63I probably benign Het
Alg8 T C 7: 97,036,128 (GRCm39) C340R possibly damaging Het
BC028528 T C 3: 95,796,224 (GRCm39) D46G probably benign Het
Cdh5 A T 8: 104,839,649 (GRCm39) H40L probably benign Het
Cul3 T C 1: 80,249,274 (GRCm39) T666A probably benign Het
Cwc27 T C 13: 104,941,472 (GRCm39) D150G probably benign Het
Cyp2a12 T A 7: 26,728,677 (GRCm39) N49K probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Fam171a1 T A 2: 3,179,298 (GRCm39) S41R probably damaging Het
Fam186a A T 15: 99,841,189 (GRCm39) L1685H probably damaging Het
Fgfr1 G T 8: 26,022,358 (GRCm39) W2L probably benign Het
Fpr-rs6 T A 17: 20,402,705 (GRCm39) I219F probably damaging Het
Gm28360 T A 1: 117,781,409 (GRCm39) C133* probably null Het
Herc1 A G 9: 66,393,475 (GRCm39) D4118G probably damaging Het
Hhatl A G 9: 121,613,652 (GRCm39) probably null Het
Inpp4b T A 8: 82,696,218 (GRCm39) L384H probably damaging Het
Klhl12 G A 1: 134,395,455 (GRCm39) R139K probably benign Het
Klrg1 T A 6: 122,248,331 (GRCm39) *189C probably null Het
Krtap19-4 A G 16: 88,681,833 (GRCm39) F41S unknown Het
Lifr T C 15: 7,211,478 (GRCm39) V672A possibly damaging Het
Lrrc25 A G 8: 71,070,497 (GRCm39) T93A possibly damaging Het
Map7 T A 10: 20,105,575 (GRCm39) S9T unknown Het
Mycbp2 A T 14: 103,367,400 (GRCm39) F4281L probably benign Het
Myh10 A G 11: 68,612,173 (GRCm39) I162V probably benign Het
Myo18a T C 11: 77,732,383 (GRCm39) V1293A probably damaging Het
Nipbl A G 15: 8,340,742 (GRCm39) S1993P possibly damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Oas2 C T 5: 120,886,831 (GRCm39) E112K probably benign Het
Oosp3 A T 19: 11,682,820 (GRCm39) I163F probably benign Het
Or8a1 A G 9: 37,641,682 (GRCm39) F199S probably damaging Het
Phkb G T 8: 86,748,292 (GRCm39) E710D probably benign Het
Plekhg4 A T 8: 106,103,281 (GRCm39) D318V possibly damaging Het
Potefam1 T C 2: 111,000,670 (GRCm39) E183G unknown Het
Ptprj T C 2: 90,299,971 (GRCm39) I277V possibly damaging Het
Ranbp17 A G 11: 33,437,702 (GRCm39) S179P probably damaging Het
Scaf8 G A 17: 3,221,397 (GRCm39) V295M unknown Het
Scn3a T A 2: 65,336,537 (GRCm39) I690F probably damaging Het
Serpinb1b A T 13: 33,273,636 (GRCm39) K110N possibly damaging Het
Sgsh T C 11: 119,243,599 (GRCm39) N41S probably damaging Het
Sh2d1b1 A G 1: 170,110,704 (GRCm39) T67A probably benign Het
Skint5 A T 4: 113,480,980 (GRCm39) L958M unknown Het
Spg11 T A 2: 121,923,426 (GRCm39) probably null Het
Spo11 T A 2: 172,825,815 (GRCm39) D84E probably benign Het
Spta1 G A 1: 174,001,956 (GRCm39) E29K probably benign Het
Srrm2 T C 17: 24,040,286 (GRCm39) V2310A probably benign Het
Tbc1d30 C A 10: 121,107,962 (GRCm39) R480L probably benign Het
Tbpl2 A T 2: 23,985,079 (GRCm39) probably null Het
Tjp3 C T 10: 81,118,828 (GRCm39) V69I possibly damaging Het
Ube3b T C 5: 114,539,484 (GRCm39) V425A probably benign Het
Vmn1r151 A T 7: 22,198,492 (GRCm39) S204R probably damaging Het
Vmn1r42 A T 6: 89,822,059 (GRCm39) I170N probably damaging Het
Vmn1r65 A G 7: 6,011,254 (GRCm39) S327P probably benign Het
Vmn2r104 T C 17: 20,262,988 (GRCm39) I158V probably benign Het
Wdr49 T A 3: 75,338,454 (GRCm39) M21L probably benign Het
Other mutations in Dhrs4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01900:Dhrs4 APN 14 55,725,654 (GRCm39) missense probably benign 0.00
R1496:Dhrs4 UTSW 14 55,725,107 (GRCm39) missense probably damaging 0.98
R1962:Dhrs4 UTSW 14 55,725,060 (GRCm39) missense probably damaging 1.00
R3716:Dhrs4 UTSW 14 55,716,362 (GRCm39) start codon destroyed probably null 1.00
R6027:Dhrs4 UTSW 14 55,723,580 (GRCm39) missense probably benign 0.00
R7866:Dhrs4 UTSW 14 55,725,092 (GRCm39) missense probably damaging 1.00
R9347:Dhrs4 UTSW 14 55,727,306 (GRCm39) missense possibly damaging 0.61
R9365:Dhrs4 UTSW 14 55,724,776 (GRCm39) missense probably benign 0.23
R9522:Dhrs4 UTSW 14 55,716,219 (GRCm39) unclassified probably benign
X0021:Dhrs4 UTSW 14 55,724,581 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- CAAGGCGATCTCTGACTGTG -3'
(R):5'- ATGTGGGAGTCTGACCTAGG -3'

Sequencing Primer
(F):5'- GACTGTGACCTTCCCTAACAGG -3'
(R):5'- TGTCTGGTAAGGACAAGGGTATG -3'
Posted On 2020-09-15