Incidental Mutation 'R9272:Acd'
ID 703022
Institutional Source Beutler Lab
Gene Symbol Acd
Ensembl Gene ENSMUSG00000038000
Gene Name adrenocortical dysplasia
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.443) question?
Stock # R9272 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106424789-106427748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106424952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 396 (P396L)
Ref Sequence ENSEMBL: ENSMUSP00000048180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042608] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211870] [ENSMUST00000211888] [ENSMUST00000212352] [ENSMUST00000212430] [ENSMUST00000212642] [ENSMUST00000212650] [ENSMUST00000213019]
AlphaFold Q5EE38
Predicted Effect probably damaging
Transcript: ENSMUST00000042608
AA Change: P396L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048180
Gene: ENSMUSG00000038000
AA Change: P396L

DomainStartEndE-ValueType
Pfam:TPP1 11 118 2.4e-23 PFAM
low complexity region 259 272 N/A INTRINSIC
low complexity region 296 319 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093195
SMART Domains Protein: ENSMUSP00000090886
Gene: ENSMUSG00000005699

DomainStartEndE-ValueType
PB1 15 95 2.81e-15 SMART
PDZ 167 250 1.38e-12 SMART
low complexity region 263 286 N/A INTRINSIC
low complexity region 309 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098444
SMART Domains Protein: ENSMUSP00000096043
Gene: ENSMUSG00000005699

DomainStartEndE-ValueType
PB1 4 79 1.28e-9 SMART
PDZ 151 234 1.38e-12 SMART
low complexity region 247 270 N/A INTRINSIC
low complexity region 293 307 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211870
Predicted Effect probably benign
Transcript: ENSMUST00000211888
Predicted Effect probably benign
Transcript: ENSMUST00000212352
Predicted Effect probably benign
Transcript: ENSMUST00000212430
Predicted Effect probably benign
Transcript: ENSMUST00000212642
Predicted Effect probably benign
Transcript: ENSMUST00000212650
Predicted Effect probably benign
Transcript: ENSMUST00000213019
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene produce skeletal, coat, vibrissae and skin pigmentation defects. Kidney and adrenal abnormalities cause a shortened lifespan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A G 6: 146,854,499 (GRCm39) V181A probably damaging Het
Abca16 T A 7: 120,076,993 (GRCm39) D686E probably benign Het
Abca8a C A 11: 109,953,908 (GRCm39) C844F probably damaging Het
Adamtsl3 A G 7: 82,189,753 (GRCm39) Y659C probably damaging Het
Ankfn1 C T 11: 89,413,875 (GRCm39) V167M probably benign Het
Ankrd13c T A 3: 157,700,358 (GRCm39) L393Q possibly damaging Het
Arid1b G A 17: 5,386,879 (GRCm39) G1391D possibly damaging Het
Arid5b T A 10: 67,937,882 (GRCm39) D415V probably damaging Het
Arl13b G T 16: 62,647,774 (GRCm39) H45N probably benign Het
Atp13a4 A T 16: 29,268,797 (GRCm39) I519N Het
Atrnl1 T C 19: 57,643,420 (GRCm39) I436T probably benign Het
Bbx A G 16: 50,022,935 (GRCm39) I675T probably damaging Het
Bcas1 A T 2: 170,190,040 (GRCm39) V619E probably damaging Het
Cad T C 5: 31,218,576 (GRCm39) V501A possibly damaging Het
Car8 T A 4: 8,169,686 (GRCm39) N274I probably damaging Het
Ccdc3 A G 2: 5,146,143 (GRCm39) Q159R probably damaging Het
Ccdc7b A T 8: 129,893,459 (GRCm39) E95D possibly damaging Het
Cdh12 G T 15: 21,492,801 (GRCm39) probably benign Het
Col11a1 G T 3: 113,901,948 (GRCm39) G548* probably null Het
Cpb2 A G 14: 75,520,803 (GRCm39) E406G probably damaging Het
Crocc T C 4: 140,747,132 (GRCm39) S1723G probably benign Het
Ctu2 T C 8: 123,206,045 (GRCm39) V262A probably benign Het
Dmxl2 A T 9: 54,311,404 (GRCm39) N1772K possibly damaging Het
Dock3 A T 9: 106,774,569 (GRCm39) M62K probably benign Het
Dok7 G A 5: 35,214,239 (GRCm39) probably benign Het
E2f3 A G 13: 30,102,629 (GRCm39) Y211H probably damaging Het
Elapor2 T C 5: 9,460,699 (GRCm39) Y207H probably damaging Het
Fam53c T A 18: 34,895,774 (GRCm39) S25R probably damaging Het
Fhod3 T G 18: 25,030,681 (GRCm39) probably benign Het
Foxp4 A G 17: 48,180,033 (GRCm39) Y623H unknown Het
Ggt1 A T 10: 75,421,749 (GRCm39) H532L probably benign Het
Gm10775 A C 13: 65,407,770 (GRCm39) T24P unknown Het
Hinfp A G 9: 44,213,872 (GRCm39) S2P probably benign Het
Hs3st4 A G 7: 123,582,749 (GRCm39) T116A probably benign Het
Ighv5-9-1 A T 12: 113,699,818 (GRCm39) I98N probably damaging Het
Ipo11 A T 13: 107,046,713 (GRCm39) Y171N probably benign Het
Jph1 C A 1: 17,161,838 (GRCm39) A275S probably damaging Het
Kcnh6 C G 11: 105,924,860 (GRCm39) H941Q possibly damaging Het
Kcnh7 A T 2: 62,618,097 (GRCm39) I464K probably damaging Het
Lrp8 C A 4: 107,717,158 (GRCm39) P603T probably benign Het
Man1c1 C A 4: 134,291,118 (GRCm39) D593Y probably damaging Het
Mdm4 A T 1: 132,929,169 (GRCm39) I176K possibly damaging Het
Mpo T C 11: 87,686,693 (GRCm39) V139A probably benign Het
Niban3 A C 8: 72,055,520 (GRCm39) D310A probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Or1f12 A G 13: 21,721,864 (GRCm39) S89P possibly damaging Het
Or4k51 G A 2: 111,584,965 (GRCm39) V124M probably damaging Het
Or9g4b A T 2: 85,616,088 (GRCm39) I78L probably benign Het
Pcdh7 A G 5: 57,878,779 (GRCm39) D778G possibly damaging Het
Pcdhb12 T C 18: 37,570,675 (GRCm39) F607S probably damaging Het
Pcolce A G 5: 137,606,333 (GRCm39) F157L probably benign Het
Pogk T C 1: 166,226,780 (GRCm39) Y457C probably damaging Het
Ppp1r21 G A 17: 88,866,086 (GRCm39) E323K possibly damaging Het
Prkn T A 17: 11,456,527 (GRCm39) V117E probably damaging Het
Prr12 A C 7: 44,692,811 (GRCm39) F1574V probably damaging Het
Rasl2-9 A T 7: 5,128,448 (GRCm39) F161I probably damaging Het
Rb1 A G 14: 73,517,602 (GRCm39) I268T possibly damaging Het
Rin3 A T 12: 102,335,691 (GRCm39) D534V probably damaging Het
Scn5a C T 9: 119,315,717 (GRCm39) G1664S probably damaging Het
Sin3b T C 8: 73,471,168 (GRCm39) S372P probably benign Het
Snx32 T A 19: 5,548,485 (GRCm39) H65L probably damaging Het
Spidr T A 16: 15,855,544 (GRCm39) I324F probably damaging Het
Stab1 A T 14: 30,867,298 (GRCm39) F1687L probably benign Het
Taar6 T C 10: 23,860,903 (GRCm39) I214M probably benign Het
Vmn2r105 T A 17: 20,447,685 (GRCm39) N380Y probably damaging Het
Other mutations in Acd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Acd APN 8 106,425,086 (GRCm39) missense probably damaging 1.00
IGL02322:Acd APN 8 106,425,268 (GRCm39) missense probably benign 0.04
R0613:Acd UTSW 8 106,427,200 (GRCm39) splice site probably null
R1750:Acd UTSW 8 106,425,524 (GRCm39) missense possibly damaging 0.93
R1824:Acd UTSW 8 106,427,122 (GRCm39) missense probably damaging 1.00
R1870:Acd UTSW 8 106,425,039 (GRCm39) critical splice donor site probably null
R2888:Acd UTSW 8 106,425,470 (GRCm39) missense probably benign 0.08
R2945:Acd UTSW 8 106,426,927 (GRCm39) nonsense probably null
R3001:Acd UTSW 8 106,426,913 (GRCm39) critical splice donor site probably null
R3002:Acd UTSW 8 106,426,913 (GRCm39) critical splice donor site probably null
R3003:Acd UTSW 8 106,426,913 (GRCm39) critical splice donor site probably null
R4795:Acd UTSW 8 106,427,647 (GRCm39) missense possibly damaging 0.92
R4806:Acd UTSW 8 106,424,922 (GRCm39) missense possibly damaging 0.75
R6111:Acd UTSW 8 106,424,919 (GRCm39) missense probably benign 0.04
R6236:Acd UTSW 8 106,427,127 (GRCm39) missense probably benign 0.01
R7096:Acd UTSW 8 106,425,121 (GRCm39) missense possibly damaging 0.52
R8677:Acd UTSW 8 106,427,576 (GRCm39) missense probably damaging 1.00
R8995:Acd UTSW 8 106,427,131 (GRCm39) missense probably damaging 1.00
R9307:Acd UTSW 8 106,425,514 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TAACCCTTCACAGGCTCTGG -3'
(R):5'- AGAGGCATCGTGATACTTCTGC -3'

Sequencing Primer
(F):5'- GAACCCTCCAGCCCTGAG -3'
(R):5'- CTGCATTCCAGTATAAATACGAGAC -3'
Posted On 2022-03-25