Incidental Mutation 'R4082:a'
ID 316922
Institutional Source Beutler Lab
Gene Symbol a
Ensembl Gene ENSMUSG00000027596
Gene Name nonagouti
Synonyms agouti, As, ASP, agouti signal protein
MMRRC Submission 041624-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R4082 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 154792519-154892932 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 154887678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 46 (D46V)
Ref Sequence ENSEMBL: ENSMUSP00000105319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029123] [ENSMUST00000109697] [ENSMUST00000137333] [ENSMUST00000148402]
AlphaFold Q03288
Predicted Effect probably damaging
Transcript: ENSMUST00000029123
AA Change: D46V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029123
Gene: ENSMUSG00000027596
AA Change: D46V

DomainStartEndE-ValueType
Agouti 6 127 3.98e-69 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109697
AA Change: D46V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105319
Gene: ENSMUSG00000027596
AA Change: D46V

DomainStartEndE-ValueType
Agouti 6 127 3.98e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132342
Predicted Effect probably damaging
Transcript: ENSMUST00000137333
AA Change: D46V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122261
Gene: ENSMUSG00000027596
AA Change: D46V

DomainStartEndE-ValueType
Agouti 6 70 2.53e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148300
Predicted Effect probably damaging
Transcript: ENSMUST00000148402
AA Change: D46V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121072
Gene: ENSMUSG00000027596
AA Change: D46V

DomainStartEndE-ValueType
Agouti 6 75 2.32e-6 SMART
Meta Mutation Damage Score 0.6946 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (73/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Agouti acts in the hair follicles, primarily affecting the relative amount and distribution of yellow pigment (phaeomelanin) and black pigment (eumelanin) in hairs of the coat. Some alleles show lethal effects or are associated with obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T G 19: 24,043,366 (GRCm39) noncoding transcript Het
Aass A T 6: 23,109,497 (GRCm39) D324E possibly damaging Het
Abca12 G T 1: 71,306,622 (GRCm39) T2028K possibly damaging Het
Abt1 T C 13: 23,606,316 (GRCm39) T213A probably benign Het
Adcy1 A C 11: 7,014,117 (GRCm39) Y173S probably damaging Het
Aim2 T C 1: 173,287,417 (GRCm39) probably null Het
Akr1d1 G A 6: 37,534,424 (GRCm39) V193M probably damaging Het
Cars1 C T 7: 143,123,234 (GRCm39) E461K probably damaging Het
Ccdc80 T C 16: 44,943,290 (GRCm39) L800P probably damaging Het
Ccl22 A G 8: 95,473,536 (GRCm39) Y27C probably damaging Het
Cdc123 G A 2: 5,815,566 (GRCm39) probably benign Het
Cldn11 A T 3: 31,217,278 (GRCm39) I149F probably benign Het
Col14a1 T C 15: 55,300,429 (GRCm39) Y986H unknown Het
Col6a3 G A 1: 90,749,605 (GRCm39) L410F probably damaging Het
Crocc T C 4: 140,761,282 (GRCm39) probably null Het
Cubn A G 2: 13,433,374 (GRCm39) probably benign Het
Cwc25 G T 11: 97,644,744 (GRCm39) Q205K probably benign Het
Cyp2e1 T C 7: 140,350,991 (GRCm39) I321T possibly damaging Het
Eps8l1 T A 7: 4,473,797 (GRCm39) probably null Het
Fasl C T 1: 161,609,420 (GRCm39) V189M probably damaging Het
Fbxw5 T C 2: 25,394,643 (GRCm39) probably null Het
Flg2 A C 3: 93,110,828 (GRCm39) E952A unknown Het
Gpd1l A T 9: 114,746,146 (GRCm39) L90Q probably damaging Het
Grik4 G T 9: 42,509,180 (GRCm39) F414L probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klhl3 C T 13: 58,166,611 (GRCm39) G407S probably null Het
Lmbr1 T C 5: 29,463,753 (GRCm39) E157G probably damaging Het
Lrp2 T A 2: 69,343,617 (GRCm39) H914L probably damaging Het
Mrpl20 A T 4: 155,892,970 (GRCm39) D67V probably damaging Het
Myo15a A G 11: 60,378,022 (GRCm39) T1346A possibly damaging Het
Naip5 A T 13: 100,382,338 (GRCm39) C124S probably damaging Het
Or10ag2 T A 2: 87,248,801 (GRCm39) Y134* probably null Het
Or13n4 T C 7: 106,423,245 (GRCm39) T163A possibly damaging Het
Or52u1 T A 7: 104,237,830 (GRCm39) V290D probably damaging Het
Osbp A G 19: 11,956,030 (GRCm39) D385G probably benign Het
Paip1 G A 13: 119,593,540 (GRCm39) D460N probably damaging Het
Pde3b T C 7: 114,093,823 (GRCm39) S356P probably benign Het
Pms2 A G 5: 143,867,837 (GRCm39) M814V probably damaging Het
Polg C A 7: 79,114,576 (GRCm39) K128N probably damaging Het
Polk G T 13: 96,620,181 (GRCm39) T694K probably benign Het
Pom121 T C 5: 135,417,491 (GRCm39) K342R unknown Het
Pou5f2 T C 13: 78,174,024 (GRCm39) L322P probably damaging Het
Prorp G T 12: 55,351,398 (GRCm39) V236F possibly damaging Het
Ptpn6 T C 6: 124,705,382 (GRCm39) D183G probably damaging Het
Pygb G A 2: 150,668,391 (GRCm39) probably null Het
Ralgds C T 2: 28,442,283 (GRCm39) probably benign Het
Ret T C 6: 118,130,927 (GRCm39) T1079A possibly damaging Het
Rspo2 A C 15: 42,885,933 (GRCm39) V241G probably benign Het
Smg1 T A 7: 117,759,469 (GRCm39) probably benign Het
Snph T C 2: 151,435,722 (GRCm39) D402G probably damaging Het
Spta1 A G 1: 174,041,632 (GRCm39) D1334G probably benign Het
Stard13 C A 5: 151,016,294 (GRCm39) probably null Het
Sufu A G 19: 46,413,541 (GRCm39) M141V probably damaging Het
Sytl2 T A 7: 90,057,635 (GRCm39) V831D possibly damaging Het
Tc2n T C 12: 101,617,414 (GRCm39) E335G possibly damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tmcc1 T A 6: 116,020,441 (GRCm39) H118L probably damaging Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Vmn1r209 A C 13: 22,989,785 (GRCm39) L302V probably null Het
Vmn2r117 C T 17: 23,679,080 (GRCm39) V715I probably benign Het
Vopp1 A T 6: 57,766,964 (GRCm39) Y37* probably null Het
Xrn1 A G 9: 95,863,973 (GRCm39) T528A probably benign Het
Zfhx2 T C 14: 55,302,662 (GRCm39) D1774G probably benign Het
Zfp955b T A 17: 33,521,129 (GRCm39) D199E probably benign Het
Zp2 T C 7: 119,734,475 (GRCm39) S525G probably benign Het
Other mutations in a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:a APN 2 154,887,593 (GRCm39) missense probably benign 0.00
IGL02421:a APN 2 154,892,672 (GRCm39) missense probably damaging 0.98
garfield UTSW 2 0 () unclassified
killer_whale UTSW 2 0 () unclassified
split UTSW 2 0 () unclassified
yellowbelly UTSW 2 0 () unclassified
R0670:a UTSW 2 154,887,678 (GRCm39) missense probably damaging 1.00
R2114:a UTSW 2 154,889,649 (GRCm39) missense probably benign
R4346:a UTSW 2 154,887,651 (GRCm39) missense probably benign 0.20
R6188:a UTSW 2 154,889,602 (GRCm39) missense probably damaging 0.99
R6476:a UTSW 2 154,892,699 (GRCm39) missense probably benign 0.00
R7211:a UTSW 2 154,887,699 (GRCm39) missense probably damaging 1.00
R7295:a UTSW 2 154,887,678 (GRCm39) missense probably damaging 1.00
R8776:a UTSW 2 154,892,612 (GRCm39) missense probably damaging 0.99
R8776-TAIL:a UTSW 2 154,892,612 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGAAGGCACATACATCCCTTAC -3'
(R):5'- GTATTAGAGCGGTGGCATGC -3'

Sequencing Primer
(F):5'- ACATACATCCCTTACCACCATCTTC -3'
(R):5'- ATGCAGAGCGTTCCCAGAC -3'
Posted On 2015-05-15