Incidental Mutation 'R0670:a'
ID 61385
Institutional Source Beutler Lab
Gene Symbol a
Ensembl Gene ENSMUSG00000027596
Gene Name nonagouti
Synonyms agouti, As, ASP, agouti signal protein
MMRRC Submission 038855-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R0670 (G1)
Quality Score 162
Status Not 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: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.7%
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,470,760 (GRCm39) probably null Het
Afap1l2 G A 19: 56,904,235 (GRCm39) T684I probably damaging Het
Ahcyl1 A T 3: 107,578,481 (GRCm39) V205E probably damaging Het
Ap4e1 T A 2: 126,853,784 (GRCm39) probably null Het
Brms1 C A 19: 5,095,999 (GRCm39) N24K probably damaging Het
Celf3 ACAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCA 3: 94,395,537 (GRCm39) probably benign Het
Col25a1 A G 3: 130,180,544 (GRCm39) K130E possibly damaging Het
Crisp1 A C 17: 40,616,001 (GRCm39) Y125* probably null Het
Dnhd1 A T 7: 105,345,671 (GRCm39) D2272V possibly damaging Het
Elmod1 A G 9: 53,820,106 (GRCm39) V294A probably damaging Het
Gmfg T A 7: 28,140,953 (GRCm39) I33K probably damaging Het
Gsk3b G T 16: 37,964,678 (GRCm39) D49Y probably damaging Het
H2-T5 G C 17: 36,478,990 (GRCm39) F86L possibly damaging Het
Harbi1 C T 2: 91,542,880 (GRCm39) R114W probably damaging Het
Hspbp1 A G 7: 4,680,735 (GRCm39) V247A probably damaging Het
Kif17 A T 4: 137,989,810 (GRCm39) probably benign Het
Klhl6 T A 16: 19,768,309 (GRCm39) H412L possibly damaging Het
Muc1 A G 3: 89,137,839 (GRCm39) D227G probably benign Het
Nat8f5 A T 6: 85,794,957 (GRCm39) M1K probably null Het
Neb A G 2: 52,146,136 (GRCm39) V2947A possibly damaging Het
Nfrkb A T 9: 31,331,469 (GRCm39) Q1295L probably benign Het
Otop1 T C 5: 38,445,292 (GRCm39) V150A possibly damaging Het
Pcdhb2 A T 18: 37,429,701 (GRCm39) D558V probably damaging Het
Pdilt T C 7: 119,099,651 (GRCm39) K206E probably benign Het
Pkn2 A T 3: 142,545,104 (GRCm39) I23K probably damaging Het
Plec A T 15: 76,090,160 (GRCm39) L60Q probably damaging Het
Ranbp2 C A 10: 58,316,520 (GRCm39) D2413E probably benign Het
Socs1 A G 16: 10,602,126 (GRCm39) Y204H probably damaging Het
Stk39 T C 2: 68,196,526 (GRCm39) D301G possibly damaging Het
Tlr5 T A 1: 182,801,454 (GRCm39) W253R probably damaging Het
Treml2 A G 17: 48,614,864 (GRCm39) probably null Het
Ttn A G 2: 76,579,448 (GRCm39) L22069P probably damaging Het
Vps13c G T 9: 67,833,139 (GRCm39) S1614I probably benign Het
Vrk2 C T 11: 26,436,959 (GRCm39) probably null Het
Xrn1 A G 9: 95,873,109 (GRCm39) Y655C probably damaging 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
R2114:a UTSW 2 154,889,649 (GRCm39) missense probably benign
R4082:a UTSW 2 154,887,678 (GRCm39) missense probably damaging 1.00
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'- TGTGTAGCAGAGTCAGACCACCAG -3'
(R):5'- TTCCTTAGGAGTGAGCCAGGAAGC -3'

Sequencing Primer
(F):5'- GGAAGGCACATACATCCCTTAC -3'
(R):5'- CAGGAAGCACCATAGCTCTGG -3'
Posted On 2013-07-30