Incidental Mutation 'R5900:Hhipl2'
ID 456257
Institutional Source Beutler Lab
Gene Symbol Hhipl2
Ensembl Gene ENSMUSG00000053461
Gene Name hedgehog interacting protein-like 2
Synonyms 4930507C10Rik
MMRRC Submission 044099-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R5900 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 183199147-183217717 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 183207597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 219 (I219V)
Ref Sequence ENSEMBL: ENSMUSP00000142121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065900] [ENSMUST00000192527]
AlphaFold Q9D2G9
Predicted Effect possibly damaging
Transcript: ENSMUST00000065900
AA Change: I439V

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000070719
Gene: ENSMUSG00000053461
AA Change: I439V

DomainStartEndE-ValueType
Pfam:Folate_rec 43 205 5.9e-15 PFAM
Pfam:GSDH 215 550 4e-41 PFAM
low complexity region 608 621 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000192527
AA Change: I219V

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142121
Gene: ENSMUSG00000053461
AA Change: I219V

DomainStartEndE-ValueType
Pfam:GSDH 1 364 3.2e-37 PFAM
low complexity region 388 401 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193862
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,169,982 (GRCm39) T1341S possibly damaging Het
Abcc12 T C 8: 87,293,149 (GRCm39) D13G possibly damaging Het
Adam24 T C 8: 41,134,071 (GRCm39) V513A probably benign Het
Adgrg6 C T 10: 14,314,163 (GRCm39) probably null Het
Ankrd11 T C 8: 123,617,805 (GRCm39) T1995A probably benign Het
Apoh G T 11: 108,302,843 (GRCm39) K269N probably damaging Het
Bahcc1 C T 11: 120,175,319 (GRCm39) L1798F probably damaging Het
Brca2 T A 5: 150,464,597 (GRCm39) C1454S probably benign Het
Clip2 T C 5: 134,531,633 (GRCm39) D689G possibly damaging Het
Cpa5 T C 6: 30,615,115 (GRCm39) V84A probably damaging Het
Ctsh T C 9: 89,946,621 (GRCm39) I116T probably damaging Het
Dlg5 T A 14: 24,199,515 (GRCm39) E1463V probably damaging Het
Dnah11 C T 12: 118,046,166 (GRCm39) probably null Het
Dstyk G A 1: 132,384,717 (GRCm39) R737Q probably damaging Het
Galr1 A G 18: 82,411,982 (GRCm39) S295P probably damaging Het
Gpx2 A G 12: 76,839,653 (GRCm39) V115A probably damaging Het
Hkdc1 T C 10: 62,244,445 (GRCm39) M214V possibly damaging Het
Lrfn2 T C 17: 49,377,291 (GRCm39) V124A possibly damaging Het
Lrrcc1 T G 3: 14,627,186 (GRCm39) S704R possibly damaging Het
Marveld2 T C 13: 100,748,176 (GRCm39) Y301C probably damaging Het
Mcpt8 T C 14: 56,319,740 (GRCm39) I237V probably damaging Het
Mtus1 A T 8: 41,536,534 (GRCm39) V394D possibly damaging Het
Ncapd3 T A 9: 26,978,265 (GRCm39) D821E probably benign Het
Pcdh9 T C 14: 93,564,156 (GRCm39) D1058G probably damaging Het
Pld2 G A 11: 70,446,888 (GRCm39) probably null Het
Prdm2 A G 4: 142,861,290 (GRCm39) S667P probably damaging Het
Ptgdr2 A T 19: 10,918,352 (GRCm39) probably null Het
Rfx7 C T 9: 72,524,538 (GRCm39) T576I probably benign Het
Safb T C 17: 56,907,349 (GRCm39) C426R unknown Het
Serpina9 G A 12: 103,975,130 (GRCm39) R8* probably null Het
Shank3 G A 15: 89,387,593 (GRCm39) R254Q probably damaging Het
Simc1 T C 13: 54,694,837 (GRCm39) V306A probably damaging Het
Srfbp1 A G 18: 52,621,853 (GRCm39) T305A probably benign Het
Tdrd5 A T 1: 156,105,005 (GRCm39) C463* probably null Het
Tmem132d A T 5: 128,346,336 (GRCm39) L62Q probably damaging Het
Trank1 T A 9: 111,220,784 (GRCm39) L2507H probably damaging Het
Usp45 T C 4: 21,830,451 (GRCm39) V702A probably damaging Het
Wnk2 A G 13: 49,256,308 (GRCm39) I271T probably damaging Het
Zfp292 A T 4: 34,805,125 (GRCm39) L2640I probably damaging Het
Znrf3 G T 11: 5,232,110 (GRCm39) H468N probably damaging Het
Other mutations in Hhipl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1184:Hhipl2 UTSW 1 183,206,042 (GRCm39) missense probably damaging 1.00
R1607:Hhipl2 UTSW 1 183,204,432 (GRCm39) missense possibly damaging 0.90
R1638:Hhipl2 UTSW 1 183,208,921 (GRCm39) missense probably benign 0.03
R1826:Hhipl2 UTSW 1 183,217,253 (GRCm39) missense probably benign 0.18
R4110:Hhipl2 UTSW 1 183,204,920 (GRCm39) missense probably benign 0.04
R4903:Hhipl2 UTSW 1 183,207,698 (GRCm39) nonsense probably null
R5065:Hhipl2 UTSW 1 183,207,580 (GRCm39) missense probably benign 0.02
R5326:Hhipl2 UTSW 1 183,214,055 (GRCm39) missense probably damaging 1.00
R5542:Hhipl2 UTSW 1 183,214,055 (GRCm39) missense probably damaging 1.00
R5838:Hhipl2 UTSW 1 183,204,479 (GRCm39) missense probably damaging 0.98
R6052:Hhipl2 UTSW 1 183,204,965 (GRCm39) missense possibly damaging 0.58
R6225:Hhipl2 UTSW 1 183,209,459 (GRCm39) splice site probably null
R7677:Hhipl2 UTSW 1 183,204,951 (GRCm39) missense possibly damaging 0.88
R8276:Hhipl2 UTSW 1 183,217,328 (GRCm39) missense possibly damaging 0.84
R8337:Hhipl2 UTSW 1 183,209,540 (GRCm39) nonsense probably null
R9709:Hhipl2 UTSW 1 183,199,747 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- AAGTTCTCTGCTGGGGAAAGTG -3'
(R):5'- ATATTCAGGTTGTCTCCGCC -3'

Sequencing Primer
(F):5'- CTCTGCTGGGGAAAGTGTTAAG -3'
(R):5'- TGCCAACCTAGTCAACTCACTC -3'
Posted On 2017-02-15