Incidental Mutation 'R8253:Avpr1b'
ID 640110
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 067679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R8253 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 131526977-131539738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 131537154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 313 (T313S)
Ref Sequence ENSEMBL: ENSMUSP00000027690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027690] [ENSMUST00000190410]
AlphaFold Q9WU02
Predicted Effect probably benign
Transcript: ENSMUST00000027690
AA Change: T313S

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027690
Gene: ENSMUSG00000026432
AA Change: T313S

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 silent
Transcript: ENSMUST00000190410
SMART Domains Protein: ENSMUSP00000140527
Gene: ENSMUSG00000026432

DomainStartEndE-ValueType
Pfam:7tm_1 51 121 8.5e-6 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 T C 18: 61,874,702 (GRCm39) E493G probably benign Het
Akr1a1 A T 4: 116,493,840 (GRCm39) D313E probably damaging Het
Ap1m1 T A 8: 73,006,730 (GRCm39) V242E probably damaging Het
Atad2b T A 12: 5,024,159 (GRCm39) S670T possibly damaging Het
Atad2b C T 12: 5,024,160 (GRCm39) S670L probably benign Het
Atp23 C T 10: 126,704,543 (GRCm39) G197S probably benign Het
Cblc A G 7: 19,520,157 (GRCm39) I362T probably damaging Het
Ccdc171 T A 4: 83,661,207 (GRCm39) S1106T probably damaging Het
Cimap3 T C 3: 105,905,683 (GRCm39) M193V probably benign Het
Csde1 C A 3: 102,946,037 (GRCm39) N10K probably damaging Het
Csnk2a2 T C 8: 96,215,005 (GRCm39) Y24C Het
Cyb5r4 G T 9: 86,941,108 (GRCm39) L420F probably damaging Het
Cyth4 A G 15: 78,486,937 (GRCm39) I22V probably benign Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Dner C T 1: 84,512,598 (GRCm39) G323E probably damaging Het
Elf1 T C 14: 79,773,792 (GRCm39) M1T probably null Het
Fam13c T C 10: 70,389,033 (GRCm39) S520P probably damaging Het
Fhip1b T A 7: 105,028,294 (GRCm39) H885L possibly damaging Het
Gabra2 A G 5: 71,249,413 (GRCm39) I30T probably benign Het
Gm6793 T A 8: 112,741,640 (GRCm39) M1L probably benign Het
Inpp5a T C 7: 139,061,556 (GRCm39) L76P probably damaging Het
Itih5 T C 2: 10,243,406 (GRCm39) I381T probably benign Het
Lyrm7 T C 11: 54,741,227 (GRCm39) I36V probably null Het
Magi2 A G 5: 20,814,305 (GRCm39) I906V probably benign Het
Mup5 C T 4: 61,752,811 (GRCm39) A71T probably benign Het
Ndufaf6 G A 4: 11,059,086 (GRCm39) R248W probably damaging Het
Or52z14 A T 7: 103,253,538 (GRCm39) I226L possibly damaging Het
Or5p50 A G 7: 107,421,776 (GRCm39) I300T probably damaging Het
Palm A T 10: 79,643,511 (GRCm39) K80* probably null Het
Pcyox1 C T 6: 86,366,044 (GRCm39) R390K probably benign Het
Pdx1 T C 5: 147,207,459 (GRCm39) probably null Het
Pkp2 T A 16: 16,086,406 (GRCm39) V689D probably damaging Het
Prkar2a G T 9: 108,617,638 (GRCm39) R232L probably damaging Het
Rasgrp4 C T 7: 28,838,287 (GRCm39) T87M possibly damaging Het
Ryr2 T A 13: 11,842,439 (GRCm39) Q486L possibly damaging Het
Shd T C 17: 56,283,295 (GRCm39) V309A Het
Skint7 C T 4: 111,834,675 (GRCm39) Q20* probably null Het
Slc35g1 C A 19: 38,391,237 (GRCm39) T173K probably damaging Het
Slit2 T C 5: 48,433,013 (GRCm39) F1073L probably benign Het
Snx18 T A 13: 113,731,317 (GRCm39) D559V probably damaging Het
Tbr1 G T 2: 61,635,585 (GRCm39) Q178H probably benign Het
Tmem145 T G 7: 25,006,939 (GRCm39) Y114D probably damaging Het
Ttc22 T C 4: 106,495,717 (GRCm39) L357P probably damaging Het
Uba2 T C 7: 33,850,323 (GRCm39) M377V probably damaging Het
Vps13c T A 9: 67,850,770 (GRCm39) Y2242* probably null Het
Xdh T G 17: 74,225,377 (GRCm39) Q475P possibly damaging Het
Zbtb42 T G 12: 112,646,746 (GRCm39) L307R probably damaging 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
R1704:Avpr1b UTSW 1 131,537,242 (GRCm39) missense possibly damaging 0.80
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
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'- GGAGATTCAGCCTCTGTCCTAG -3'
(R):5'- GTAGATGGACCACAGGTGTG -3'

Sequencing Primer
(F):5'- AGTTTGCACGACTAATGGGCC -3'
(R):5'- CACAGGTGTGGGTCAGCAG -3'
Posted On 2020-07-28