Incidental Mutation 'IGL01835:Prlr'
ID 154926
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 # IGL01835
Quality Score
Status
Chromosome 15
Chromosomal Location 10177324-10349266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 10329129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 535 (V535I)
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 damaging
Transcript: ENSMUST00000124470
AA Change: V535I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122219
Gene: ENSMUSG00000005268
AA Change: V535I

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: ENSMUST00000157020
SMART Domains Protein: ENSMUSP00000120297
Gene: ENSMUSG00000094814

DomainStartEndE-ValueType
transmembrane domain 20 41 N/A INTRINSIC
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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,213,957 (GRCm39) M728K probably benign Het
2700049A03Rik T A 12: 71,213,955 (GRCm39) Y727* probably null Het
Adam23 T C 1: 63,582,278 (GRCm39) Y309H probably damaging Het
Ash2l C T 8: 26,329,868 (GRCm39) V97M probably damaging Het
Cyp4f13 A G 17: 33,149,588 (GRCm39) F83L probably benign Het
Dnah6 A T 6: 73,112,784 (GRCm39) S1607T probably damaging Het
Dock2 T A 11: 34,260,435 (GRCm39) M969L possibly damaging Het
Dse T A 10: 34,036,213 (GRCm39) probably benign Het
Dusp22 C T 13: 30,892,666 (GRCm39) probably null Het
F5 G A 1: 164,021,937 (GRCm39) V1471I probably benign Het
Gm14403 A T 2: 177,199,049 (GRCm39) E48D probably damaging Het
Gm6309 G A 5: 146,105,085 (GRCm39) A276V probably damaging Het
Icam4 A T 9: 20,941,086 (GRCm39) T113S probably damaging Het
Ipo5 T C 14: 121,163,650 (GRCm39) V236A probably benign Het
Mrc2 T G 11: 105,227,503 (GRCm39) F579V probably damaging Het
Myl4 T A 11: 104,468,279 (GRCm39) M1K probably null Het
Oas3 A T 5: 120,904,193 (GRCm39) C560* probably null Het
Or2w25 T C 11: 59,504,165 (GRCm39) V125A probably damaging Het
Or52e18 T C 7: 104,609,669 (GRCm39) N90S probably benign Het
Ptprd T C 4: 76,165,058 (GRCm39) T48A probably benign Het
Rasa4 A G 5: 136,131,461 (GRCm39) H485R possibly damaging Het
Rnf13 A T 3: 57,728,007 (GRCm39) H229L probably damaging Het
Rpap3 T C 15: 97,601,120 (GRCm39) D39G possibly damaging Het
Sec23ip T A 7: 128,357,035 (GRCm39) probably null Het
Sirpa T A 2: 129,457,484 (GRCm39) F186Y possibly damaging Het
Slc26a11 T C 11: 119,268,040 (GRCm39) Y473H probably benign Het
Slc36a2 T C 11: 55,053,559 (GRCm39) I360V probably benign Het
Spg11 G A 2: 121,918,705 (GRCm39) R975C probably benign Het
Sppl2b T A 10: 80,701,175 (GRCm39) I350N probably damaging Het
Tas2r139 A T 6: 42,118,366 (GRCm39) N166I probably benign Het
Trav14n-3 A G 14: 53,607,786 (GRCm39) T39A possibly damaging Het
Vmn2r61 A G 7: 41,950,015 (GRCm39) M812V probably benign Het
Vmn2r87 A C 10: 130,314,978 (GRCm39) F203V probably damaging Het
Vwde A C 6: 13,186,823 (GRCm39) V888G probably benign Het
Zbtb17 T C 4: 141,192,749 (GRCm39) probably null 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
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
IGL03277:Prlr APN 15 10,328,887 (GRCm39) missense probably benign 0.01
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 2014-02-04