Incidental Mutation 'R5034:Ahsg'
ID 389470
Institutional Source Beutler Lab
Gene Symbol Ahsg
Ensembl Gene ENSMUSG00000022868
Gene Name alpha-2-HS-glycoprotein
Synonyms fetuin-A
MMRRC Submission 042625-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5034 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 22710793-22718193 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 22717650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 237 (P237Q)
Ref Sequence ENSEMBL: ENSMUSP00000156233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023583] [ENSMUST00000231328] [ENSMUST00000231848] [ENSMUST00000231932] [ENSMUST00000232098] [ENSMUST00000232674]
AlphaFold P29699
Predicted Effect possibly damaging
Transcript: ENSMUST00000023583
AA Change: P288Q

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023583
Gene: ENSMUSG00000022868
AA Change: P288Q

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
CY 22 133 8.6e-24 SMART
CY 145 248 6.58e-20 SMART
low complexity region 273 288 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000231328
AA Change: P244Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231692
Predicted Effect probably damaging
Transcript: ENSMUST00000231848
AA Change: P237Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000231932
Predicted Effect possibly damaging
Transcript: ENSMUST00000232098
AA Change: P209Q

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232556
Predicted Effect probably benign
Transcript: ENSMUST00000232674
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (67/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice lacking this gene exhibit defective inhibition of serum apatite formation, sometimes causing muscle calcification. They are resistant to weight gain on a high-fat diet and have increased insulin sensitivity and glucose clearance and reduced fasting plasma free fatty acids and triglycerides. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,136,090 (GRCm39) S482T probably benign Het
Adam6b G T 12: 113,454,547 (GRCm39) G455C probably damaging Het
Asxl2 A G 12: 3,552,193 (GRCm39) S1312G probably damaging Het
Brinp3 C T 1: 146,603,458 (GRCm39) probably benign Het
Col12a1 T C 9: 79,564,649 (GRCm39) H1677R probably damaging Het
Cops7a A G 6: 124,939,583 (GRCm39) probably null Het
Csmd2 G A 4: 127,952,901 (GRCm39) A117T probably damaging Het
Csmd3 T C 15: 47,492,683 (GRCm39) R3153G possibly damaging Het
Dctn4 A G 18: 60,685,956 (GRCm39) N342D probably benign Het
Dennd5a A T 7: 109,499,004 (GRCm39) I953N probably damaging Het
Dmwd T C 7: 18,814,219 (GRCm39) S290P probably damaging Het
Dsc1 T A 18: 20,228,084 (GRCm39) Y424F possibly damaging Het
Far2 C A 6: 148,074,939 (GRCm39) L391M probably benign Het
Foxd3 G A 4: 99,545,327 (GRCm39) G156S probably damaging Het
Galk2 A T 2: 125,771,495 (GRCm39) E173D probably benign Het
Hcar1 T C 5: 124,017,732 (GRCm39) probably benign Het
Hsd17b11 C T 5: 104,166,087 (GRCm39) V91M possibly damaging Het
Ighv1-77 C T 12: 115,825,494 (GRCm39) C115Y probably damaging Het
Ighv9-2 A G 12: 114,073,025 (GRCm39) F9S probably damaging Het
Kdm6b A G 11: 69,292,736 (GRCm39) probably benign Het
Kif21a T A 15: 90,852,561 (GRCm39) R890W probably null Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Magel2 A T 7: 62,029,616 (GRCm39) H840L unknown Het
Mrgpra4 A G 7: 47,631,317 (GRCm39) F95L probably benign Het
Myo7b A G 18: 32,104,440 (GRCm39) L1436P probably damaging Het
Nf1 C T 11: 79,334,976 (GRCm39) P943S probably damaging Het
Obscn T A 11: 58,952,502 (GRCm39) R4153* probably null Het
Oosp2 T C 19: 11,628,899 (GRCm39) I67M probably damaging Het
Or5m13b C A 2: 85,753,891 (GRCm39) S93Y probably damaging Het
Pcdh9 T A 14: 93,564,285 (GRCm39) D1023V probably benign Het
Pcdhb14 T C 18: 37,581,859 (GRCm39) S322P probably damaging Het
Pde2a A G 7: 101,151,231 (GRCm39) D285G probably benign Het
Pde5a G C 3: 122,646,235 (GRCm39) G809R probably damaging Het
Pde5a G T 3: 122,646,236 (GRCm39) G809V probably damaging Het
Pphln1 T C 15: 93,350,010 (GRCm39) V120A probably benign Het
Rictor T C 15: 6,797,576 (GRCm39) S311P probably damaging Het
Rilpl1 T C 5: 124,631,887 (GRCm39) D153G probably damaging Het
Rmdn3 G T 2: 118,978,058 (GRCm39) A181E probably damaging Het
Rnf213 G A 11: 119,301,633 (GRCm39) V369M probably damaging Het
Scyl1 T A 19: 5,810,022 (GRCm39) R601S probably benign Het
Sdcbp G A 4: 6,393,118 (GRCm39) probably null Het
Septin8 A G 11: 53,425,265 (GRCm39) T53A probably damaging Het
Sfpq A G 4: 126,917,462 (GRCm39) probably benign Het
Slc35b3 A G 13: 39,127,134 (GRCm39) Y163H probably damaging Het
Sra1 A G 18: 36,812,048 (GRCm39) probably null Het
Sspo A T 6: 48,457,757 (GRCm39) N3231Y possibly damaging Het
Tcf3 A G 10: 80,253,377 (GRCm39) V218A possibly damaging Het
Tgm3 T C 2: 129,879,404 (GRCm39) V332A possibly damaging Het
Tmprss11f C T 5: 86,739,243 (GRCm39) probably benign Het
Trbv4 A G 6: 41,036,624 (GRCm39) T50A probably benign Het
Trdv2-2 C A 14: 54,198,882 (GRCm39) Y57* probably null Het
Trim50 T C 5: 135,396,147 (GRCm39) V365A possibly damaging Het
Ubash3b T C 9: 40,941,036 (GRCm39) Q245R probably benign Het
Ulk3 T A 9: 57,501,047 (GRCm39) V338E possibly damaging Het
Usf3 A C 16: 44,036,762 (GRCm39) K414T probably damaging Het
Usp48 C T 4: 137,334,068 (GRCm39) R161* probably null Het
Vps18 A T 2: 119,123,787 (GRCm39) D238V probably benign Het
Vps35l T C 7: 118,390,611 (GRCm39) V368A probably damaging Het
Zfp354c T C 11: 50,705,866 (GRCm39) E403G probably benign Het
Zscan18 A G 7: 12,508,072 (GRCm39) V476A probably damaging Het
Other mutations in Ahsg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01830:Ahsg APN 16 22,717,779 (GRCm39) missense probably damaging 1.00
IGL01885:Ahsg APN 16 22,717,731 (GRCm39) missense probably damaging 1.00
IGL02208:Ahsg APN 16 22,711,060 (GRCm39) missense possibly damaging 0.89
IGL02593:Ahsg APN 16 22,711,078 (GRCm39) critical splice donor site probably null
IGL03059:Ahsg APN 16 22,717,755 (GRCm39) missense possibly damaging 0.57
R0257:Ahsg UTSW 16 22,717,790 (GRCm39) missense probably benign
R0615:Ahsg UTSW 16 22,717,805 (GRCm39) missense possibly damaging 0.92
R1829:Ahsg UTSW 16 22,711,078 (GRCm39) unclassified probably benign
R5149:Ahsg UTSW 16 22,717,673 (GRCm39) missense probably benign 0.02
R5670:Ahsg UTSW 16 22,716,913 (GRCm39) missense probably benign
R6264:Ahsg UTSW 16 22,717,611 (GRCm39) missense probably benign 0.00
R6788:Ahsg UTSW 16 22,713,585 (GRCm39) missense probably benign 0.01
R7026:Ahsg UTSW 16 22,710,963 (GRCm39) missense probably damaging 1.00
R7027:Ahsg UTSW 16 22,711,007 (GRCm39) missense probably damaging 0.99
R9055:Ahsg UTSW 16 22,711,069 (GRCm39) missense possibly damaging 0.51
X0060:Ahsg UTSW 16 22,714,012 (GRCm39) missense probably damaging 1.00
Z1177:Ahsg UTSW 16 22,717,797 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCATGGGGATTCCTGTCATG -3'
(R):5'- CTTCAGTGGTGGCTATGTCC -3'

Sequencing Primer
(F):5'- GTCATGGAAAACCATCTTGCCTACTG -3'
(R):5'- CCCGAATCAAGCCTAGATTTTG -3'
Posted On 2016-06-06