Incidental Mutation 'R2170:Stard5'
ID 237428
Institutional Source Beutler Lab
Gene Symbol Stard5
Ensembl Gene ENSMUSG00000046027
Gene Name StAR related lipid transfer domain containing 5
Synonyms 18B7-T7(GS), D7Ertd152e, 2310058G22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2170 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 83281225-83291536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83282366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 60 (T60A)
Ref Sequence ENSEMBL: ENSMUSP00000112781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075418] [ENSMUST00000117410]
AlphaFold Q9EPQ7
Predicted Effect probably benign
Transcript: ENSMUST00000075418
AA Change: T60A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000074872
Gene: ENSMUSG00000046027
AA Change: T60A

DomainStartEndE-ValueType
START 7 210 8.57e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117410
AA Change: T60A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000112781
Gene: ENSMUSG00000046027
AA Change: T60A

DomainStartEndE-ValueType
Pfam:START 7 196 5.9e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146469
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208892
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START-related lipid transfer proteins. The protein encoded by this gene is a cholesterol transporter and is also able to bind and transport other sterol-derived molecules related to the cholesterol/bile acid biosynthetic pathways such as 25-hydroxycholesterol. Its expression is upregulated during endoplasmic reticulum (ER) stress. The protein is thought to act as a cytosolic sterol transporter that moves cholesterol between intracellular membranes such as from the cytoplasm to the ER and from the ER to the Golgi apparatus. Alternative splicing of this gene produces multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal vertebral transverse process morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,697,896 (GRCm39) S404P probably damaging Het
4933434E20Rik T A 3: 89,963,611 (GRCm39) L89Q probably benign Het
Atxn2l T A 7: 126,102,411 (GRCm39) probably benign Het
Bcl6 A G 16: 23,793,680 (GRCm39) F89S probably damaging Het
Ccdc168 A T 1: 44,095,168 (GRCm39) S1977T probably benign Het
Ccr1l1 C A 9: 123,778,172 (GRCm39) V92F possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Chrne T C 11: 70,509,323 (GRCm39) N86S probably damaging Het
Copg2 CCTCATC CC 6: 30,789,757 (GRCm39) probably null Het
Elapor2 A G 5: 9,529,206 (GRCm39) D221G probably damaging Het
Eps8l2 T C 7: 140,921,984 (GRCm39) S21P probably benign Het
Glb1 CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT 9: 114,302,873 (GRCm39) probably benign Het
Gngt2 A G 11: 95,728,071 (GRCm39) probably benign Het
Hecw2 T A 1: 53,981,956 (GRCm39) E135V probably damaging Het
Hmcn2 G A 2: 31,270,293 (GRCm39) A1177T probably benign Het
Itga10 T C 3: 96,557,773 (GRCm39) V272A probably damaging Het
Kif17 A G 4: 138,015,682 (GRCm39) I418M probably benign Het
Knl1 T C 2: 118,918,075 (GRCm39) probably null Het
Lamc1 C T 1: 153,124,888 (GRCm39) A628T probably benign Het
Mag A T 7: 30,608,412 (GRCm39) L234* probably null Het
Muc5ac T A 7: 141,366,084 (GRCm39) V2080E possibly damaging Het
Myo18b T C 5: 112,871,724 (GRCm39) D2119G probably benign Het
Ncam1 C T 9: 49,709,981 (GRCm39) A17T probably benign Het
Nipbl A G 15: 8,322,702 (GRCm39) Y2570H probably damaging Het
Oasl2 T C 5: 115,044,861 (GRCm39) V129A probably damaging Het
Or14a257 T A 7: 86,137,778 (GRCm39) H327L probably benign Het
Or4k47 C T 2: 111,451,945 (GRCm39) S158N possibly damaging Het
Podn A T 4: 107,879,730 (GRCm39) L85Q probably damaging Het
Ppp1r12c A T 7: 4,485,805 (GRCm39) D680E possibly damaging Het
Prdm14 G A 1: 13,192,684 (GRCm39) L352F probably damaging Het
Prob1 G T 18: 35,787,790 (GRCm39) Q155K probably benign Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Shoc1 A G 4: 59,069,215 (GRCm39) L737S possibly damaging Het
Syt7 A G 19: 10,416,744 (GRCm39) K402E probably damaging Het
Tll2 T A 19: 41,171,714 (GRCm39) D69V probably damaging Het
Vmn1r40 T C 6: 89,691,957 (GRCm39) F258S probably benign Het
Zfp759 T A 13: 67,284,812 (GRCm39) Y19N possibly damaging Het
Other mutations in Stard5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Stard5 APN 7 83,282,397 (GRCm39) missense probably damaging 1.00
IGL02100:Stard5 APN 7 83,289,653 (GRCm39) missense possibly damaging 0.71
IGL03374:Stard5 APN 7 83,285,980 (GRCm39) missense possibly damaging 0.83
R0038:Stard5 UTSW 7 83,285,951 (GRCm39) splice site probably benign
R0038:Stard5 UTSW 7 83,285,951 (GRCm39) splice site probably benign
R0631:Stard5 UTSW 7 83,281,965 (GRCm39) missense probably damaging 1.00
R2995:Stard5 UTSW 7 83,281,951 (GRCm39) missense probably damaging 1.00
R4616:Stard5 UTSW 7 83,282,489 (GRCm39) intron probably benign
R5372:Stard5 UTSW 7 83,282,428 (GRCm39) missense probably damaging 1.00
R5628:Stard5 UTSW 7 83,282,355 (GRCm39) missense probably benign 0.30
R7836:Stard5 UTSW 7 83,285,984 (GRCm39) missense probably damaging 1.00
R9249:Stard5 UTSW 7 83,281,253 (GRCm39) missense probably damaging 0.97
R9574:Stard5 UTSW 7 83,281,944 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAAGCTGTGTTCTGTGAGGAC -3'
(R):5'- GCACTCCTCTTGCCTACAGATG -3'

Sequencing Primer
(F):5'- ACCTGTTTGTTTATGCAGGCTAGAG -3'
(R):5'- CAGATGTTATAGATCCCTCTTCAGAG -3'
Posted On 2014-10-02