Incidental Mutation 'R5547:Avpi1'
ID 436375
Institutional Source Beutler Lab
Gene Symbol Avpi1
Ensembl Gene ENSMUSG00000018821
Gene Name arginine vasopressin-induced 1
Synonyms 2310008N12Rik, mVIT32
MMRRC Submission 043105-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5547 (G1)
Quality Score 210
Status Not validated
Chromosome 19
Chromosomal Location 42111714-42117432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42113382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 25 (K25R)
Ref Sequence ENSEMBL: ENSMUSP00000018965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018965] [ENSMUST00000066778] [ENSMUST00000161873]
AlphaFold Q9D7H4
Predicted Effect probably damaging
Transcript: ENSMUST00000018965
AA Change: K25R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018965
Gene: ENSMUSG00000018821
AA Change: K25R

DomainStartEndE-ValueType
Pfam:TC1 1 76 2.3e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066778
SMART Domains Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178

DomainStartEndE-ValueType
low complexity region 31 53 N/A INTRINSIC
low complexity region 68 98 N/A INTRINSIC
Pfam:PI3_PI4_kinase 133 431 1.7e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161873
AA Change: K25R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124617
Gene: ENSMUSG00000018821
AA Change: K25R

DomainStartEndE-ValueType
Pfam:TC1 1 76 6.6e-34 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI

All alleles(74) : Targeted(3) Gene trapped(71)
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh7a1 A G 18: 56,661,356 (GRCm39) S492P probably damaging Het
Arfgef1 A T 1: 10,231,201 (GRCm39) D1133E probably damaging Het
Bank1 T C 3: 135,772,110 (GRCm39) S708G probably damaging Het
C1qtnf2 A G 11: 43,381,794 (GRCm39) E202G probably damaging Het
C6 T A 15: 4,837,970 (GRCm39) V860E probably benign Het
Cbr1 T A 16: 93,406,698 (GRCm39) V138E probably damaging Het
Cdip1 A G 16: 4,587,988 (GRCm39) S2P probably damaging Het
Cep126 T C 9: 8,100,428 (GRCm39) N702S probably damaging Het
Chek1 T C 9: 36,623,400 (GRCm39) I381V probably benign Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cryz C T 3: 154,317,194 (GRCm39) R138* probably null Het
Ctsll3 T A 13: 60,948,551 (GRCm39) M103L probably benign Het
Daxx TGATGATGACGATGATGACGATGATGA TGATGATGACGATGATGA 17: 34,131,615 (GRCm39) probably benign Het
Daxx CGATGATGATGA CGA 17: 34,131,633 (GRCm39) probably benign Het
Dsg1a T G 18: 20,469,097 (GRCm39) probably null Het
Eya4 T C 10: 22,985,753 (GRCm39) E583G possibly damaging Het
Flt1 T A 5: 147,591,948 (GRCm39) S505C probably damaging Het
Gpr161 C A 1: 165,133,982 (GRCm39) F81L possibly damaging Het
H2-T15 G A 17: 36,368,796 (GRCm39) H95Y possibly damaging Het
Hmcn1 A G 1: 150,613,257 (GRCm39) V1390A possibly damaging Het
Ifi44l C T 3: 151,467,142 (GRCm39) V63I unknown Het
Klhl3 C T 13: 58,250,243 (GRCm39) probably null Het
Lekr1 T A 3: 65,576,601 (GRCm39) probably null Het
Lhx5 A G 5: 120,572,675 (GRCm39) Q98R probably benign Het
Nuggc A G 14: 65,879,330 (GRCm39) K681E possibly damaging Het
Numa1 G T 7: 101,663,137 (GRCm39) A735S probably damaging Het
Oog3 A T 4: 143,884,598 (GRCm39) L446Q probably benign Het
Or5ac19 G A 16: 59,089,479 (GRCm39) L184F probably benign Het
Otogl C T 10: 107,617,909 (GRCm39) E1735K possibly damaging Het
Pcsk5 T C 19: 17,729,488 (GRCm39) D119G probably benign Het
Pgpep1 T C 8: 71,105,069 (GRCm39) K64E probably benign Het
Prr19 A C 7: 25,003,388 (GRCm39) D334A probably damaging Het
Ptprh G T 7: 4,557,221 (GRCm39) S691* probably null Het
Recql4 G A 15: 76,589,994 (GRCm39) R684* probably null Het
Rnf112 C T 11: 61,341,854 (GRCm39) V317I possibly damaging Het
Rnf40 T C 7: 127,188,302 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Spag17 T C 3: 99,963,468 (GRCm39) V1062A probably benign Het
Tbc1d1 A G 5: 64,481,887 (GRCm39) D696G possibly damaging Het
Tdo2 T C 3: 81,866,247 (GRCm39) R339G probably damaging Het
Tmem245 C T 4: 56,910,156 (GRCm39) probably null Het
Trim24 A G 6: 37,942,485 (GRCm39) E965G probably damaging Het
Trmt112 T C 19: 6,888,156 (GRCm39) S103P probably damaging Het
Trpv6 A T 6: 41,613,088 (GRCm39) V26D possibly damaging Het
Zfp850 A G 7: 27,688,844 (GRCm39) C455R probably damaging Het
Zfp946 T C 17: 22,673,873 (GRCm39) I209T probably benign Het
Zfp957 T C 14: 79,451,406 (GRCm39) N131S probably benign Het
Other mutations in Avpi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0041:Avpi1 UTSW 19 42,112,223 (GRCm39) nonsense probably null
R0041:Avpi1 UTSW 19 42,112,223 (GRCm39) nonsense probably null
R1713:Avpi1 UTSW 19 42,113,248 (GRCm39) missense probably damaging 1.00
R4031:Avpi1 UTSW 19 42,113,180 (GRCm39) unclassified probably benign
R6675:Avpi1 UTSW 19 42,112,183 (GRCm39) missense probably benign
R7033:Avpi1 UTSW 19 42,113,416 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGACAGGCATCCTTTCTC -3'
(R):5'- TTGTCCGATGTATGGCCAGC -3'

Sequencing Primer
(F):5'- TACCTAAGCCGGCTGCAGTG -3'
(R):5'- TCCGATGTATGGCCAGCTACTG -3'
Posted On 2016-10-24