Incidental Mutation 'R1704:Avpr1b'
ID 189940
Institutional Source Beutler Lab
Gene Symbol Avpr1b
Ensembl Gene ENSMUSG00000026432
Gene Name arginine vasopressin receptor 1B
Synonyms VPR3, AVPR3, V3/V1b pituitary vasopressin receptor, V3/V1b, V1BR, V1bR
MMRRC Submission 039737-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R1704 (G1)
Quality Score 217
Status Not validated
Chromosome 1
Chromosomal Location 131526977-131539738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131537242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 342 (L342Q)
Ref Sequence ENSEMBL: ENSMUSP00000027690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027690] [ENSMUST00000190410]
AlphaFold Q9WU02
Predicted Effect possibly damaging
Transcript: ENSMUST00000027690
AA Change: L342Q

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027690
Gene: ENSMUSG00000026432
AA Change: L342Q

DomainStartEndE-ValueType
Pfam:7tm_4 41 223 1.1e-6 PFAM
Pfam:7TM_GPCR_Srsx 45 342 4.4e-7 PFAM
Pfam:7tm_1 51 335 1.6e-50 PFAM
Pfam:7TM_GPCR_Srv 106 352 8.2e-7 PFAM
DUF1856 359 411 1.6e-21 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000190410
AA Change: C119S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140527
Gene: ENSMUSG00000026432
AA Change: C119S

DomainStartEndE-ValueType
Pfam:7tm_1 51 121 8.5e-6 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice for one allele display dysregulation of the hypothalamic-pituitary-adrenal axis activity under stress and resting conditions. Homozygous null mice for other alleles display decreased aggression or an increased propensity for seizures. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, knock-out(4) Targeted, other(1)
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 C T 3: 37,146,164 (GRCm39) H511Y probably benign Het
Aldh1l2 C T 10: 83,344,524 (GRCm39) A341T probably benign Het
Apon T C 10: 128,090,865 (GRCm39) F181S probably damaging Het
Cacna1c A T 6: 118,579,107 (GRCm39) H1810Q probably benign Het
Camta1 T C 4: 151,159,681 (GRCm39) Y1593C probably damaging Het
Cdh23 T A 10: 60,150,390 (GRCm39) I2527F probably damaging Het
Cep192 T A 18: 67,989,327 (GRCm39) S1825T probably damaging Het
Cntnap4 T A 8: 113,484,155 (GRCm39) W403R probably damaging Het
Crppa A G 12: 36,571,493 (GRCm39) E279G probably benign Het
D630045J12Rik G A 6: 38,116,362 (GRCm39) P1753S probably benign Het
Dsg4 T C 18: 20,604,646 (GRCm39) Y1038H probably damaging Het
Fat1 C T 8: 45,478,613 (GRCm39) T2553I probably damaging Het
Fem1c A T 18: 46,639,263 (GRCm39) N246K probably benign Het
Frmd8 T A 19: 5,919,510 (GRCm39) Q179L probably benign Het
Gbp10 A G 5: 105,372,217 (GRCm39) F181S probably damaging Het
Hfe T C 13: 23,888,391 (GRCm39) Y265C probably damaging Het
Kifap3 A G 1: 163,656,765 (GRCm39) N362D possibly damaging Het
Lima1 A G 15: 99,717,617 (GRCm39) F130L probably benign Het
Lipo3 A T 19: 33,757,743 (GRCm39) V242E possibly damaging Het
Nf1 T A 11: 79,354,127 (GRCm39) probably null Het
Nos1ap C G 1: 170,165,781 (GRCm39) E161Q probably damaging Het
Or1q1 A T 2: 36,886,896 (GRCm39) I25F probably benign Het
Or2t43 A T 11: 58,457,580 (GRCm39) M197K probably damaging Het
Pde4dip C T 3: 97,661,576 (GRCm39) V611I probably benign Het
Pdk2 T C 11: 94,919,376 (GRCm39) I300V possibly damaging Het
Polr2b A G 5: 77,490,407 (GRCm39) D849G possibly damaging Het
Polr3a G A 14: 24,534,188 (GRCm39) Q106* probably null Het
Prr14l G T 5: 32,987,626 (GRCm39) A623D probably benign Het
Rab43 A C 6: 87,788,363 (GRCm39) probably null Het
Sart3 G A 5: 113,884,068 (GRCm39) T648M probably benign Het
Scn10a T C 9: 119,438,460 (GRCm39) D1803G probably damaging Het
Sec11a A T 7: 80,584,848 (GRCm39) S30T possibly damaging Het
Sez6l2 G A 7: 126,557,513 (GRCm39) G309E probably damaging Het
Snx14 A C 9: 88,295,591 (GRCm39) D191E probably damaging Het
Sox6 A T 7: 115,076,183 (GRCm39) N777K possibly damaging Het
Susd4 A G 1: 182,681,678 (GRCm39) N173S probably damaging Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tgfbrap1 G T 1: 43,093,816 (GRCm39) Q559K probably benign Het
Tmco1 T C 1: 167,153,506 (GRCm39) S129P possibly damaging Het
Tmprss11a T C 5: 86,576,561 (GRCm39) T97A probably benign Het
Tnni3k G A 3: 154,533,145 (GRCm39) A774V probably benign Het
Tshz3 T C 7: 36,470,785 (GRCm39) S925P possibly damaging Het
Ush2a T C 1: 188,553,993 (GRCm39) V3494A probably damaging Het
Vmn2r9 T C 5: 108,994,266 (GRCm39) D461G probably damaging Het
Zan A T 5: 137,432,264 (GRCm39) C2344* probably null Het
Zfp629 A G 7: 127,210,036 (GRCm39) I591T probably benign Het
Zfp955a G A 17: 33,460,699 (GRCm39) R478* probably null Het
Zmym1 A T 4: 126,942,177 (GRCm39) I737N probably damaging Het
Zranb3 T C 1: 128,019,740 (GRCm39) M1V probably null Het
Other mutations in Avpr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Avpr1b APN 1 131,527,885 (GRCm39) missense probably damaging 1.00
IGL02516:Avpr1b APN 1 131,528,367 (GRCm39) missense probably damaging 0.98
IGL02708:Avpr1b APN 1 131,528,389 (GRCm39) missense probably damaging 1.00
IGL03122:Avpr1b APN 1 131,528,257 (GRCm39) missense probably damaging 1.00
R0058:Avpr1b UTSW 1 131,527,524 (GRCm39) missense probably benign 0.04
R0058:Avpr1b UTSW 1 131,527,524 (GRCm39) missense probably benign 0.04
R0654:Avpr1b UTSW 1 131,527,480 (GRCm39) start codon destroyed probably null 0.98
R0690:Avpr1b UTSW 1 131,528,019 (GRCm39) missense probably damaging 0.99
R1470:Avpr1b UTSW 1 131,528,323 (GRCm39) missense probably damaging 1.00
R1470:Avpr1b UTSW 1 131,528,323 (GRCm39) missense probably damaging 1.00
R1732:Avpr1b UTSW 1 131,527,992 (GRCm39) missense probably damaging 1.00
R1754:Avpr1b UTSW 1 131,527,839 (GRCm39) missense probably damaging 1.00
R6103:Avpr1b UTSW 1 131,537,155 (GRCm39) missense probably damaging 1.00
R7246:Avpr1b UTSW 1 131,528,008 (GRCm39) missense probably damaging 1.00
R7283:Avpr1b UTSW 1 131,537,469 (GRCm39) missense probably benign 0.26
R8253:Avpr1b UTSW 1 131,537,154 (GRCm39) missense probably benign 0.41
R8750:Avpr1b UTSW 1 131,527,674 (GRCm39) missense probably damaging 0.99
R9167:Avpr1b UTSW 1 131,537,151 (GRCm39) missense probably damaging 1.00
R9439:Avpr1b UTSW 1 131,528,029 (GRCm39) missense probably damaging 1.00
Z1176:Avpr1b UTSW 1 131,537,311 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCACTGATCCCTCTTGAGTTGTGA -3'
(R):5'- TCCAAATCCTTCAGCGAGCCCG -3'

Sequencing Primer
(F):5'- cccacccacccactctc -3'
(R):5'- CGAGCCCGCAGGCTTAG -3'
Posted On 2014-05-14