Incidental Mutation 'R7740:Hsdl2'
ID 596480
Institutional Source Beutler Lab
Gene Symbol Hsdl2
Ensembl Gene ENSMUSG00000028383
Gene Name hydroxysteroid dehydrogenase like 2
Synonyms 2610207I16Rik
MMRRC Submission 045796-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7740 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 59581563-59618689 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 59612724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 425 (G425V)
Ref Sequence ENSEMBL: ENSMUSP00000030078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030078] [ENSMUST00000107528]
AlphaFold Q2TPA8
Predicted Effect probably damaging
Transcript: ENSMUST00000030078
AA Change: G425V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030078
Gene: ENSMUSG00000028383
AA Change: G425V

DomainStartEndE-ValueType
Pfam:KR 11 142 6.3e-7 PFAM
Pfam:adh_short 11 209 2.9e-37 PFAM
Pfam:adh_short_C2 17 217 3.3e-11 PFAM
low complexity region 295 367 N/A INTRINSIC
Pfam:SCP2 382 484 4.1e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107528
AA Change: G305V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103152
Gene: ENSMUSG00000028383
AA Change: G305V

DomainStartEndE-ValueType
PDB:3KVO|B 1 174 1e-98 PDB
low complexity region 175 247 N/A INTRINSIC
Pfam:SCP2 262 364 2.5e-28 PFAM
Meta Mutation Damage Score 0.1204 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik G A 5: 109,885,370 (GRCm39) Q163* probably null Het
Anxa6 T A 11: 54,898,725 (GRCm39) T150S probably damaging Het
Bpifb6 T A 2: 153,744,929 (GRCm39) L45Q probably damaging Het
Brwd1 T C 16: 95,828,568 (GRCm39) D1121G probably damaging Het
C1ql3 A G 2: 13,015,483 (GRCm39) I59T possibly damaging Het
Ccdc80 A G 16: 44,924,888 (GRCm39) H674R possibly damaging Het
Cdhr1 T G 14: 36,811,337 (GRCm39) E258A probably damaging Het
Ces2g T A 8: 105,692,962 (GRCm39) F333L probably damaging Het
Chn2 C T 6: 54,277,156 (GRCm39) T445I probably benign Het
Cpe T C 8: 65,050,562 (GRCm39) D382G possibly damaging Het
Crb1 T A 1: 139,165,428 (GRCm39) I960L probably benign Het
Cyp4a14 A T 4: 115,350,806 (GRCm39) V156D probably damaging Het
Ddx23 A T 15: 98,556,315 (GRCm39) M1K probably null Het
Dnajc7 T C 11: 100,482,387 (GRCm39) I202V probably benign Het
Dsn1 T A 2: 156,839,636 (GRCm39) D255V possibly damaging Het
Dvl3 A T 16: 20,346,000 (GRCm39) probably null Het
Epm2a A G 10: 11,266,684 (GRCm39) D143G possibly damaging Het
Erc1 T A 6: 119,738,149 (GRCm39) M565L probably benign Het
Fancm T C 12: 65,173,321 (GRCm39) C1878R possibly damaging Het
Gapvd1 T C 2: 34,590,834 (GRCm39) E946G probably damaging Het
Gm9195 C T 14: 72,678,113 (GRCm39) R2352K possibly damaging Het
Greb1 C A 12: 16,790,122 (GRCm39) probably benign Het
Haus5 G A 7: 30,362,678 (GRCm39) A44V possibly damaging Het
Herc4 A G 10: 63,105,457 (GRCm39) Y146C probably benign Het
Herc6 T G 6: 57,636,802 (GRCm39) probably null Het
Hivep2 G T 10: 14,003,414 (GRCm39) G4V probably damaging Het
Igkv1-110 C T 6: 68,247,974 (GRCm39) L28F probably benign Het
Il21r T A 7: 125,231,727 (GRCm39) L385Q possibly damaging Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 141,850,333 (GRCm39) probably benign Het
Krtap5-2 C T 7: 141,728,699 (GRCm39) C149Y unknown Het
Lingo2 T A 4: 35,709,248 (GRCm39) N244I probably damaging Het
Lrrk2 C T 15: 91,651,527 (GRCm39) R1728C probably damaging Het
Macf1 A G 4: 123,578,096 (GRCm39) probably benign Het
Malrd1 G A 2: 15,619,026 (GRCm39) V297I not run Het
Mars1 T A 10: 127,136,444 (GRCm39) E460D probably benign Het
Nr1i3 A G 1: 171,044,396 (GRCm39) I174V probably benign Het
Odf2 C T 2: 29,820,636 (GRCm39) T814M probably damaging Het
Or10q1 T C 19: 13,727,328 (GRCm39) V286A probably benign Het
Or4k1 T C 14: 50,377,803 (GRCm39) M98V probably benign Het
Or4k52 A T 2: 111,610,793 (GRCm39) I43F possibly damaging Het
Pcdhga8 T C 18: 37,860,470 (GRCm39) S509P probably benign Het
Pdzd2 A G 15: 12,374,102 (GRCm39) L2011S probably benign Het
Pole T A 5: 110,478,907 (GRCm39) S1930T probably benign Het
Poteg T A 8: 27,952,052 (GRCm39) probably null Het
Ptprk T A 10: 28,372,920 (GRCm39) C724S probably damaging Het
Rabgap1l T C 1: 160,509,673 (GRCm39) E468G probably benign Het
Rbm12b1 G T 4: 12,145,954 (GRCm39) R642L probably benign Het
Relch T C 1: 105,658,986 (GRCm39) V914A probably damaging Het
S1pr4 A T 10: 81,334,855 (GRCm39) Y206* probably null Het
Sim2 A G 16: 93,915,819 (GRCm39) I261V probably benign Het
Slc22a12 C A 19: 6,587,199 (GRCm39) A448S probably benign Het
Slc4a2 A G 5: 24,636,666 (GRCm39) probably null Het
Slc6a7 T C 18: 61,133,495 (GRCm39) E567G possibly damaging Het
St6gal1 T C 16: 23,139,785 (GRCm39) probably benign Het
Syne3 T C 12: 104,920,546 (GRCm39) K550R probably benign Het
Tekt1 T A 11: 72,250,544 (GRCm39) T51S probably benign Het
Tm9sf4 T A 2: 153,050,663 (GRCm39) V640E probably damaging Het
Tnfsf8 G T 4: 63,752,683 (GRCm39) H127Q possibly damaging Het
Tomm20 A G 8: 127,666,633 (GRCm39) L80S probably damaging Het
Top2a T C 11: 98,884,640 (GRCm39) D1526G probably benign Het
Trmt1l T C 1: 151,316,639 (GRCm39) V200A possibly damaging Het
Trpa1 A G 1: 14,982,625 (GRCm39) V77A possibly damaging Het
Vmn2r12 A T 5: 109,239,615 (GRCm39) V316D probably damaging Het
Vmn2r14 A T 5: 109,368,324 (GRCm39) L223M probably benign Het
Zfp2 T C 11: 50,791,605 (GRCm39) H146R probably damaging Het
Zfp52 T C 17: 21,781,252 (GRCm39) S367P probably damaging Het
Other mutations in Hsdl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00702:Hsdl2 APN 4 59,596,892 (GRCm39) missense probably benign 0.26
IGL00857:Hsdl2 APN 4 59,617,735 (GRCm39) missense probably benign 0.29
IGL01859:Hsdl2 APN 4 59,601,569 (GRCm39) critical splice donor site probably null
IGL02822:Hsdl2 APN 4 59,601,379 (GRCm39) missense possibly damaging 0.55
IGL03028:Hsdl2 APN 4 59,594,471 (GRCm39) missense probably damaging 0.98
IGL03275:Hsdl2 APN 4 59,617,747 (GRCm39) makesense probably null
R0217:Hsdl2 UTSW 4 59,597,311 (GRCm39) missense probably damaging 1.00
R0294:Hsdl2 UTSW 4 59,601,408 (GRCm39) missense probably benign 0.00
R0448:Hsdl2 UTSW 4 59,606,523 (GRCm39) missense unknown
R0490:Hsdl2 UTSW 4 59,612,814 (GRCm39) splice site probably benign
R1353:Hsdl2 UTSW 4 59,596,971 (GRCm39) splice site probably null
R1668:Hsdl2 UTSW 4 59,612,697 (GRCm39) missense probably damaging 1.00
R3933:Hsdl2 UTSW 4 59,597,274 (GRCm39) missense probably damaging 1.00
R4088:Hsdl2 UTSW 4 59,610,636 (GRCm39) missense unknown
R4247:Hsdl2 UTSW 4 59,594,417 (GRCm39) missense probably damaging 1.00
R4449:Hsdl2 UTSW 4 59,617,692 (GRCm39) missense possibly damaging 0.61
R4723:Hsdl2 UTSW 4 59,593,270 (GRCm39) unclassified probably benign
R4858:Hsdl2 UTSW 4 59,612,812 (GRCm39) critical splice donor site probably null
R5361:Hsdl2 UTSW 4 59,592,301 (GRCm39) unclassified probably benign
R6435:Hsdl2 UTSW 4 59,610,668 (GRCm39) missense unknown
R6525:Hsdl2 UTSW 4 59,612,696 (GRCm39) missense probably damaging 0.99
R6536:Hsdl2 UTSW 4 59,610,508 (GRCm39) critical splice acceptor site probably null
R7156:Hsdl2 UTSW 4 59,617,653 (GRCm39) missense possibly damaging 0.78
R8087:Hsdl2 UTSW 4 59,592,228 (GRCm39) missense unknown
R8434:Hsdl2 UTSW 4 59,610,621 (GRCm39) missense unknown
R9512:Hsdl2 UTSW 4 59,594,464 (GRCm39) nonsense probably null
RF005:Hsdl2 UTSW 4 59,610,652 (GRCm39) small insertion probably benign
RF013:Hsdl2 UTSW 4 59,610,657 (GRCm39) small insertion probably benign
RF015:Hsdl2 UTSW 4 59,610,640 (GRCm39) small insertion probably benign
RF016:Hsdl2 UTSW 4 59,610,643 (GRCm39) small insertion probably benign
RF020:Hsdl2 UTSW 4 59,610,640 (GRCm39) small insertion probably benign
RF023:Hsdl2 UTSW 4 59,610,644 (GRCm39) small insertion probably benign
RF025:Hsdl2 UTSW 4 59,610,637 (GRCm39) small insertion probably benign
RF026:Hsdl2 UTSW 4 59,610,655 (GRCm39) small insertion probably benign
RF028:Hsdl2 UTSW 4 59,610,650 (GRCm39) nonsense probably null
RF030:Hsdl2 UTSW 4 59,610,647 (GRCm39) small insertion probably benign
RF038:Hsdl2 UTSW 4 59,610,648 (GRCm39) small insertion probably benign
RF049:Hsdl2 UTSW 4 59,610,651 (GRCm39) small insertion probably benign
RF049:Hsdl2 UTSW 4 59,610,633 (GRCm39) small insertion probably benign
RF051:Hsdl2 UTSW 4 59,610,650 (GRCm39) small insertion probably benign
RF051:Hsdl2 UTSW 4 59,610,636 (GRCm39) small insertion probably benign
RF056:Hsdl2 UTSW 4 59,610,647 (GRCm39) frame shift probably null
RF059:Hsdl2 UTSW 4 59,610,658 (GRCm39) small insertion probably benign
RF060:Hsdl2 UTSW 4 59,610,608 (GRCm39) small insertion probably benign
RF061:Hsdl2 UTSW 4 59,610,657 (GRCm39) small insertion probably benign
Z1176:Hsdl2 UTSW 4 59,617,706 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCAGAACCTAGCACAGTGC -3'
(R):5'- CCCAGGACCACATGCTTTTC -3'

Sequencing Primer
(F):5'- TGCTGAGACCATAGTCAGTGC -3'
(R):5'- CCACTGTTGGGAATGTTTCTGAACC -3'
Posted On 2019-11-26