Incidental Mutation 'R1147:Hrg'
ID 165178
Institutional Source Beutler Lab
Gene Symbol Hrg
Ensembl Gene ENSMUSG00000022877
Gene Name histidine-rich glycoprotein
Synonyms D18020, D16JH2
MMRRC Submission 039220-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # R1147 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 22769822-22780406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 22779754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 344 (C344F)
Ref Sequence ENSEMBL: ENSMUSP00000023590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023590] [ENSMUST00000232422]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023590
AA Change: C344F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023590
Gene: ENSMUSG00000022877
AA Change: C344F

DomainStartEndE-ValueType
CY 22 133 8.98e-4 SMART
CY 146 251 1.3e-2 SMART
low complexity region 347 417 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000232422
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency 98% (47/48)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display mild monocytosis, decreased bleeding time, faster clot lysis, and abnormal blood coagulation; however, wound healing is normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T C 8: 41,248,655 (GRCm39) I255T possibly damaging Het
Aknad1 T A 3: 108,659,857 (GRCm39) N290K possibly damaging Het
Ano8 C A 8: 71,934,661 (GRCm39) V447F probably damaging Het
Arhgef12 C T 9: 42,955,552 (GRCm39) probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ash1l A T 3: 88,892,194 (GRCm39) M1358L possibly damaging Het
Ccdc110 A G 8: 46,397,121 (GRCm39) K837E possibly damaging Het
Cd19 T A 7: 126,010,217 (GRCm39) D384V possibly damaging Het
Ces1f C T 8: 93,984,909 (GRCm39) V473I possibly damaging Het
Chd6 C T 2: 160,832,191 (GRCm39) E994K probably damaging Het
Col5a2 G T 1: 45,415,931 (GRCm39) N1405K probably damaging Het
Dnah7b A G 1: 46,379,426 (GRCm39) D3720G probably damaging Het
Dsel T C 1: 111,789,939 (GRCm39) T199A possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Flacc1 A T 1: 58,708,622 (GRCm39) Y215N probably damaging Het
Htt T C 5: 35,008,596 (GRCm39) Y1462H probably damaging Het
Kcnh2 T A 5: 24,529,385 (GRCm39) I784F probably damaging Het
Kifc3 T C 8: 95,864,546 (GRCm39) T55A probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lsamp G A 16: 41,994,499 (GRCm39) probably benign Het
Meis3 G A 7: 15,917,701 (GRCm39) probably benign Het
Nlrp4d A T 7: 10,122,644 (GRCm39) N73K probably benign Het
Oog3 A G 4: 143,884,982 (GRCm39) F318S possibly damaging Het
Or2a20 A T 6: 43,194,146 (GRCm39) T100S probably damaging Het
Or52w1 G A 7: 105,018,484 (GRCm39) R308Q probably benign Het
Pde5a C T 3: 122,587,962 (GRCm39) T376M probably damaging Het
Pkhd1l1 A G 15: 44,400,837 (GRCm39) I2204V probably null Het
Ppp1r13l A G 7: 19,109,772 (GRCm39) D731G probably damaging Het
Prob1 G A 18: 35,787,859 (GRCm39) Q132* probably null Het
Ptk6 C T 2: 180,837,590 (GRCm39) G443D probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ptprs T C 17: 56,730,504 (GRCm39) D749G probably damaging Het
Ralgapa1 A T 12: 55,749,265 (GRCm39) D1212E probably damaging Het
Rsad1 T C 11: 94,434,966 (GRCm39) Y290C probably damaging Het
Scamp1 A G 13: 94,361,394 (GRCm39) probably null Het
Slc6a11 T A 6: 114,221,831 (GRCm39) I507N possibly damaging Het
Stx18 T G 5: 38,284,267 (GRCm39) probably benign Het
Sybu A T 15: 44,609,651 (GRCm39) F78I probably damaging Het
Tecpr2 T G 12: 110,907,872 (GRCm39) probably benign Het
Tox A T 4: 6,823,055 (GRCm39) N87K possibly damaging Het
Trrap G A 5: 144,741,576 (GRCm39) G1308R probably damaging Het
Trub2 A G 2: 29,677,644 (GRCm39) probably benign Het
Vmn2r114 A T 17: 23,530,037 (GRCm39) H123Q probably benign Het
Vmn2r15 T A 5: 109,441,072 (GRCm39) Y262F probably damaging Het
Vmn2r33 C T 7: 7,557,144 (GRCm39) E519K probably benign Het
Zfat A T 15: 68,084,432 (GRCm39) probably benign Het
Zfp106 A T 2: 120,351,017 (GRCm39) C1545S probably damaging Het
Other mutations in Hrg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Hrg APN 16 22,777,909 (GRCm39) critical splice acceptor site probably null
IGL02795:Hrg APN 16 22,776,303 (GRCm39) unclassified probably benign
R0042:Hrg UTSW 16 22,779,886 (GRCm39) unclassified probably benign
R0184:Hrg UTSW 16 22,772,521 (GRCm39) critical splice donor site probably null
R1147:Hrg UTSW 16 22,779,754 (GRCm39) missense probably damaging 0.99
R1733:Hrg UTSW 16 22,769,997 (GRCm39) missense probably damaging 1.00
R1828:Hrg UTSW 16 22,774,853 (GRCm39) missense probably damaging 1.00
R1919:Hrg UTSW 16 22,773,207 (GRCm39) missense probably damaging 1.00
R2104:Hrg UTSW 16 22,774,949 (GRCm39) missense probably benign 0.09
R2281:Hrg UTSW 16 22,780,059 (GRCm39) unclassified probably benign
R2447:Hrg UTSW 16 22,779,898 (GRCm39) unclassified probably benign
R3962:Hrg UTSW 16 22,774,825 (GRCm39) missense possibly damaging 0.85
R3963:Hrg UTSW 16 22,774,825 (GRCm39) missense possibly damaging 0.85
R4571:Hrg UTSW 16 22,779,972 (GRCm39) unclassified probably benign
R4903:Hrg UTSW 16 22,779,901 (GRCm39) unclassified probably benign
R4904:Hrg UTSW 16 22,770,000 (GRCm39) missense probably benign 0.03
R5236:Hrg UTSW 16 22,780,263 (GRCm39) unclassified probably benign
R6020:Hrg UTSW 16 22,773,268 (GRCm39) missense probably damaging 1.00
R6054:Hrg UTSW 16 22,772,412 (GRCm39) missense probably benign 0.05
R6207:Hrg UTSW 16 22,773,288 (GRCm39) critical splice donor site probably null
R6374:Hrg UTSW 16 22,779,742 (GRCm39) missense probably damaging 0.98
R7516:Hrg UTSW 16 22,780,048 (GRCm39) missense unknown
R7606:Hrg UTSW 16 22,769,873 (GRCm39) start codon destroyed probably null 0.01
R8190:Hrg UTSW 16 22,779,793 (GRCm39) missense unknown
R8349:Hrg UTSW 16 22,780,286 (GRCm39) missense unknown
R8449:Hrg UTSW 16 22,780,286 (GRCm39) missense unknown
R8973:Hrg UTSW 16 22,777,968 (GRCm39) missense probably benign 0.22
R8998:Hrg UTSW 16 22,772,455 (GRCm39) missense probably damaging 0.99
R9334:Hrg UTSW 16 22,780,061 (GRCm39) missense unknown
Z1177:Hrg UTSW 16 22,772,462 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATAAACTTGGATGCCCACCTCCAC -3'
(R):5'- TGGACCATAGCCCCGATGATACTG -3'

Sequencing Primer
(F):5'- TCCACCAGAAGGAAAAGATAACTCAG -3'
(R):5'- aggatggtgaccgtggg -3'
Posted On 2014-03-28