Incidental Mutation 'R5542:Hhipl2'
ID 436002
Institutional Source Beutler Lab
Gene Symbol Hhipl2
Ensembl Gene ENSMUSG00000053461
Gene Name hedgehog interacting protein-like 2
Synonyms 4930507C10Rik
MMRRC Submission 043100-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R5542 (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 183214055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 377 (D377G)
Ref Sequence ENSEMBL: ENSMUSP00000142121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065900] [ENSMUST00000192527]
AlphaFold Q9D2G9
Predicted Effect probably damaging
Transcript: ENSMUST00000065900
AA Change: D597G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070719
Gene: ENSMUSG00000053461
AA Change: D597G

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 probably damaging
Transcript: ENSMUST00000192527
AA Change: D377G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142121
Gene: ENSMUSG00000053461
AA Change: D377G

DomainStartEndE-ValueType
Pfam:GSDH 1 364 3.2e-37 PFAM
low complexity region 388 401 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 C T 3: 59,932,484 (GRCm39) T333I probably damaging Het
Acacb C T 5: 114,333,798 (GRCm39) R574C probably damaging Het
Actr10 T C 12: 71,001,430 (GRCm39) probably benign Het
Ankdd1a T A 9: 65,411,472 (GRCm39) probably null Het
Anks4b C T 7: 119,781,646 (GRCm39) Q226* probably null Het
AW146154 C A 7: 41,130,801 (GRCm39) G105V probably benign Het
Cdh4 T A 2: 179,502,019 (GRCm39) N326K probably damaging Het
Cnbd1 T C 4: 18,860,517 (GRCm39) T410A possibly damaging Het
Cndp2 A T 18: 84,690,201 (GRCm39) M247K probably damaging Het
Crx G A 7: 15,602,262 (GRCm39) R139C probably damaging Het
Ctrc A G 4: 141,571,037 (GRCm39) Y68H probably damaging Het
Ddx4 T C 13: 112,757,779 (GRCm39) D326G probably damaging Het
Edem1 C T 6: 108,831,290 (GRCm39) R584C possibly damaging Het
Emcn A G 3: 137,085,638 (GRCm39) T79A probably benign Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Fbrsl1 C T 5: 110,526,307 (GRCm39) G437R probably damaging Het
Fbxo7 A C 10: 85,869,149 (GRCm39) Q201P probably benign Het
Fbxo9 T C 9: 78,008,938 (GRCm39) M12V possibly damaging Het
Fcgbpl1 A T 7: 27,854,914 (GRCm39) I1847F probably damaging Het
Flii A G 11: 60,609,688 (GRCm39) S640P probably benign Het
Fsip2 A T 2: 82,812,207 (GRCm39) N2842I possibly damaging Het
Fst G T 13: 114,592,241 (GRCm39) Q159K probably damaging Het
Fuom A T 7: 139,680,025 (GRCm39) *109R probably null Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Ighm A G 12: 113,382,601 (GRCm39) probably benign Het
Ighv1-85 T A 12: 115,963,847 (GRCm39) Y51F probably benign Het
Ighv2-3 A T 12: 113,574,833 (GRCm39) D107E probably benign Het
Ighv2-6-8 T A 12: 113,760,187 (GRCm39) M1L probably benign Het
Ipo5 T C 14: 121,163,683 (GRCm39) V247A probably benign Het
Itga9 T C 9: 118,672,729 (GRCm39) F154L possibly damaging Het
Itprid1 C A 6: 55,955,380 (GRCm39) P996Q probably damaging Het
Knl1 T A 2: 118,898,829 (GRCm39) C177S possibly damaging Het
Lrrc17 G A 5: 21,780,156 (GRCm39) G377S probably damaging Het
Marveld3 A T 8: 110,675,249 (GRCm39) I189K probably benign Het
Msantd2 G A 9: 37,428,555 (GRCm39) G185R probably damaging Het
Mtcl1 G A 17: 66,691,354 (GRCm39) probably benign Het
Muc21 T C 17: 35,933,395 (GRCm39) probably benign Het
Mycbpap A T 11: 94,398,572 (GRCm39) probably null Het
Nbeal1 A G 1: 60,316,353 (GRCm39) D1852G probably benign Het
Ndc80 A T 17: 71,807,276 (GRCm39) V560D probably benign Het
Nscme3l A T 19: 5,553,463 (GRCm39) V106D probably damaging Het
Or1e25 T A 11: 73,494,030 (GRCm39) V208E possibly damaging Het
Or2t48 A C 11: 58,420,710 (GRCm39) V34G probably benign Het
Or56a3 A T 7: 104,735,565 (GRCm39) D214V probably damaging Het
Or6a2 A T 7: 106,600,286 (GRCm39) S260R probably damaging Het
Or9i1b T C 19: 13,896,411 (GRCm39) V9A probably benign Het
Pcdhga4 A T 18: 37,819,651 (GRCm39) Y400F probably damaging Het
Pkd2 A G 5: 104,634,515 (GRCm39) silent Het
Plxna4 T A 6: 32,183,165 (GRCm39) I913F probably damaging Het
Psmc1 T C 12: 100,086,399 (GRCm39) probably null Het
Robo2 G A 16: 73,695,853 (GRCm39) T1430I probably benign Het
Safb2 G A 17: 56,882,647 (GRCm39) R329C probably damaging Het
Septin14 T C 5: 129,774,926 (GRCm39) H83R probably damaging Het
Slc16a10 A G 10: 39,952,784 (GRCm39) F237L probably benign Het
Slc37a1 A T 17: 31,559,236 (GRCm39) T439S probably damaging Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Smyd3 A T 1: 179,238,024 (GRCm39) D114E probably benign Het
Sned1 T C 1: 93,199,324 (GRCm39) I468T probably benign Het
Speer4a1 T A 5: 26,241,736 (GRCm39) N130I probably damaging Het
Tdrd7 T C 4: 46,029,757 (GRCm39) V1030A probably benign Het
Trip12 A T 1: 84,727,065 (GRCm39) D1135E probably damaging Het
Tsga10 T A 1: 37,800,598 (GRCm39) D542V probably damaging Het
Ubqlnl G A 7: 103,798,904 (GRCm39) Q198* probably null Het
Unc93a2 A T 17: 7,637,187 (GRCm39) C334S probably benign Het
Usp46 A T 5: 74,189,902 (GRCm39) M43K probably benign Het
Vmn1r175 A T 7: 23,508,531 (GRCm39) I32N possibly damaging Het
Vmn1r29 C T 6: 58,285,108 (GRCm39) T276I probably benign Het
Vmn1r81 A T 7: 11,994,034 (GRCm39) D191E probably damaging Het
Zbtb5 C A 4: 44,995,052 (GRCm39) V111F probably damaging Het
Zfp12 C T 5: 143,230,240 (GRCm39) P189L possibly damaging Het
Zfp729b A G 13: 67,739,140 (GRCm39) F1042L probably benign 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
R5838:Hhipl2 UTSW 1 183,204,479 (GRCm39) missense probably damaging 0.98
R5900:Hhipl2 UTSW 1 183,207,597 (GRCm39) missense possibly damaging 0.94
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'- CGACACTTTAGGACTGGTAGC -3'
(R):5'- CTTCTCTGCAGGGCATCTAAG -3'

Sequencing Primer
(F):5'- GACTGGTAGCTTCATTCAGTTAAGC -3'
(R):5'- CCAGGAACTTCTGAGGTCACATG -3'
Posted On 2016-10-24