Incidental Mutation 'IGL03277:Prlr'
ID 415457
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prlr
Ensembl Gene ENSMUSG00000005268
Gene Name prolactin receptor
Synonyms Prlr-rs1, Pr-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # IGL03277
Quality Score
Status
Chromosome 15
Chromosomal Location 10177324-10349266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10328887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 454 (E454G)
Ref Sequence ENSEMBL: ENSMUSP00000122219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124470] [ENSMUST00000128450] [ENSMUST00000128921] [ENSMUST00000137867] [ENSMUST00000148257]
AlphaFold Q08501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000005400
Predicted Effect probably benign
Transcript: ENSMUST00000124470
AA Change: E454G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000122219
Gene: ENSMUSG00000005268
AA Change: E454G

DomainStartEndE-ValueType
FN3 23 107 3.78e0 SMART
FN3 122 210 2.5e-2 SMART
transmembrane domain 231 253 N/A INTRINSIC
low complexity region 278 291 N/A INTRINSIC
low complexity region 342 356 N/A INTRINSIC
low complexity region 384 397 N/A INTRINSIC
low complexity region 454 467 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128450
SMART Domains Protein: ENSMUSP00000122209
Gene: ENSMUSG00000005268

DomainStartEndE-ValueType
FN3 23 107 3.78e0 SMART
FN3 122 210 2.5e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128921
SMART Domains Protein: ENSMUSP00000121280
Gene: ENSMUSG00000005268

DomainStartEndE-ValueType
FN3 23 107 3.78e0 SMART
FN3 122 210 2.5e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137867
SMART Domains Protein: ENSMUSP00000121935
Gene: ENSMUSG00000005268

DomainStartEndE-ValueType
FN3 23 107 3.78e0 SMART
FN3 122 210 2.5e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145428
Predicted Effect probably benign
Transcript: ENSMUST00000148257
SMART Domains Protein: ENSMUSP00000118355
Gene: ENSMUSG00000005268

DomainStartEndE-ValueType
FN3 23 107 3.78e0 SMART
FN3 122 210 2.5e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000157020
SMART Domains Protein: ENSMUSP00000120297
Gene: ENSMUSG00000094814

DomainStartEndE-ValueType
transmembrane domain 20 41 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal growth, hormone and glucose homeostasis, hair cycling, female reproductive behavior, morphology, and function, and thyroid, prostate, Hardarian, and lacrimal gland morphologies. Heterozygous mice exhibit defective neuron proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amt A G 9: 108,178,418 (GRCm39) T342A probably benign Het
Atosa G A 9: 74,916,514 (GRCm39) R371Q probably damaging Het
B3glct T C 5: 149,650,299 (GRCm39) L134P probably damaging Het
Bms1 A T 6: 118,382,083 (GRCm39) M485K probably benign Het
Chd6 T C 2: 160,824,981 (GRCm39) N1226S probably null Het
Cpne2 T C 8: 95,275,000 (GRCm39) Y3H probably benign Het
Dmxl2 A G 9: 54,311,504 (GRCm39) V1739A probably damaging Het
Dnah7a T A 1: 53,669,481 (GRCm39) T543S probably benign Het
Dock11 T G X: 35,277,603 (GRCm39) V1000G probably benign Het
Ednrb T A 14: 104,080,735 (GRCm39) N60Y probably benign Het
Eif3d A G 15: 77,843,849 (GRCm39) M499T possibly damaging Het
Elmod1 G A 9: 53,833,272 (GRCm39) L178F probably damaging Het
Hrh4 T C 18: 13,148,940 (GRCm39) S101P probably damaging Het
Ift172 A G 5: 31,424,642 (GRCm39) V684A possibly damaging Het
Mtx2 A G 2: 74,698,748 (GRCm39) T124A probably damaging Het
Nat3 T A 8: 68,000,341 (GRCm39) H73Q probably benign Het
Ndst2 A G 14: 20,780,234 (GRCm39) L2P possibly damaging Het
Nipsnap3a G T 4: 52,997,219 (GRCm39) A162S probably benign Het
Or2a57 T G 6: 43,212,876 (GRCm39) C111W probably damaging Het
Or5m5 T C 2: 85,814,517 (GRCm39) I111T probably damaging Het
Peg3 T C 7: 6,714,673 (GRCm39) D183G probably damaging Het
Prom1 G A 5: 44,190,313 (GRCm39) Q364* probably null Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Sema5b A G 16: 35,471,682 (GRCm39) D425G probably damaging Het
Slc16a7 A T 10: 125,066,560 (GRCm39) C360S probably benign Het
Slc38a7 T A 8: 96,575,104 (GRCm39) I59F probably damaging Het
Slc5a6 A G 5: 31,195,372 (GRCm39) C449R possibly damaging Het
Slc9b1 T C 3: 135,096,269 (GRCm39) Y357H possibly damaging Het
Snx17 A T 5: 31,353,084 (GRCm39) probably benign Het
Stk32b A C 5: 37,786,320 (GRCm39) M48R probably damaging Het
Tspan9 A G 6: 127,944,038 (GRCm39) probably null Het
Tst A T 15: 78,289,521 (GRCm39) N171K probably damaging Het
Vmn1r180 T A 7: 23,652,710 (GRCm39) I291N probably damaging Het
Vmn2r32 T A 7: 7,477,251 (GRCm39) D380V probably benign Het
Wdfy4 T C 14: 32,790,861 (GRCm39) T2189A probably benign Het
Zbtb20 A G 16: 43,438,800 (GRCm39) N640S possibly damaging Het
Zfp142 A G 1: 74,610,193 (GRCm39) S1098P probably damaging Het
Other mutations in Prlr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Prlr APN 15 10,328,410 (GRCm39) missense probably benign 0.00
IGL00688:Prlr APN 15 10,322,467 (GRCm39) unclassified probably benign
IGL01527:Prlr APN 15 10,329,257 (GRCm39) missense probably benign 0.28
IGL01626:Prlr APN 15 10,328,804 (GRCm39) missense probably benign 0.12
IGL01660:Prlr APN 15 10,317,676 (GRCm39) missense probably damaging 1.00
IGL01835:Prlr APN 15 10,329,129 (GRCm39) missense probably damaging 1.00
IGL01926:Prlr APN 15 10,314,306 (GRCm39) start codon destroyed probably null 0.76
IGL01952:Prlr APN 15 10,328,428 (GRCm39) missense possibly damaging 0.95
IGL02306:Prlr APN 15 10,328,760 (GRCm39) missense probably benign 0.05
IGL02394:Prlr APN 15 10,328,664 (GRCm39) missense probably benign 0.03
IGL02430:Prlr APN 15 10,325,477 (GRCm39) missense probably damaging 1.00
IGL02695:Prlr APN 15 10,328,451 (GRCm39) missense probably benign 0.20
IGL02745:Prlr APN 15 10,328,680 (GRCm39) missense possibly damaging 0.50
IGL03193:Prlr APN 15 10,328,376 (GRCm39) missense possibly damaging 0.57
IGL03379:Prlr APN 15 10,319,403 (GRCm39) missense possibly damaging 0.80
PIT4434001:Prlr UTSW 15 10,328,458 (GRCm39) missense probably damaging 1.00
R0057:Prlr UTSW 15 10,328,509 (GRCm39) missense probably damaging 0.99
R0057:Prlr UTSW 15 10,328,509 (GRCm39) missense probably damaging 0.99
R0545:Prlr UTSW 15 10,317,652 (GRCm39) missense probably damaging 1.00
R1236:Prlr UTSW 15 10,325,367 (GRCm39) missense probably benign 0.13
R1352:Prlr UTSW 15 10,328,872 (GRCm39) missense probably benign
R1524:Prlr UTSW 15 10,319,419 (GRCm39) missense probably damaging 0.97
R1537:Prlr UTSW 15 10,328,364 (GRCm39) splice site probably null
R1690:Prlr UTSW 15 10,317,676 (GRCm39) missense probably damaging 1.00
R1773:Prlr UTSW 15 10,325,404 (GRCm39) nonsense probably null
R1789:Prlr UTSW 15 10,322,622 (GRCm39) missense probably benign 0.32
R2421:Prlr UTSW 15 10,319,343 (GRCm39) missense probably damaging 1.00
R4518:Prlr UTSW 15 10,329,085 (GRCm39) missense possibly damaging 0.53
R4621:Prlr UTSW 15 10,319,462 (GRCm39) intron probably benign
R4855:Prlr UTSW 15 10,328,883 (GRCm39) missense probably benign 0.01
R4957:Prlr UTSW 15 10,319,281 (GRCm39) missense probably damaging 1.00
R5053:Prlr UTSW 15 10,325,471 (GRCm39) missense probably benign 0.00
R5731:Prlr UTSW 15 10,314,221 (GRCm39) missense probably benign 0.00
R5749:Prlr UTSW 15 10,328,804 (GRCm39) missense probably benign 0.12
R5806:Prlr UTSW 15 10,319,290 (GRCm39) missense probably damaging 1.00
R5927:Prlr UTSW 15 10,322,532 (GRCm39) missense probably benign 0.42
R6170:Prlr UTSW 15 10,328,935 (GRCm39) missense probably benign 0.05
R6911:Prlr UTSW 15 10,329,270 (GRCm39) missense probably benign
R6935:Prlr UTSW 15 10,319,388 (GRCm39) missense probably damaging 1.00
R7327:Prlr UTSW 15 10,346,524 (GRCm39) missense probably benign 0.00
R7539:Prlr UTSW 15 10,329,109 (GRCm39) missense probably benign 0.11
R7579:Prlr UTSW 15 10,329,021 (GRCm39) missense probably benign 0.08
R7615:Prlr UTSW 15 10,326,010 (GRCm39) missense probably damaging 1.00
R7651:Prlr UTSW 15 10,328,464 (GRCm39) missense probably benign 0.26
R8213:Prlr UTSW 15 10,329,328 (GRCm39) missense possibly damaging 0.95
R8537:Prlr UTSW 15 10,314,266 (GRCm39) start gained probably benign
R9015:Prlr UTSW 15 10,319,352 (GRCm39) missense probably damaging 1.00
R9252:Prlr UTSW 15 10,326,550 (GRCm39) splice site probably benign
R9335:Prlr UTSW 15 10,325,357 (GRCm39) missense probably benign 0.08
R9341:Prlr UTSW 15 10,328,988 (GRCm39) missense probably benign
R9343:Prlr UTSW 15 10,328,988 (GRCm39) missense probably benign
Z1176:Prlr UTSW 15 10,314,341 (GRCm39) missense probably benign
Posted On 2016-08-02