Incidental Mutation 'IGL02514:Prl'
ID296690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prl
Ensembl Gene ENSMUSG00000021342
Gene Nameprolactin
SynonymsPrl, Prl1a1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.369) question?
Stock #IGL02514
Quality Score
Status
Chromosome13
Chromosomal Location27057570-27065205 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 27059394 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 14 (L14R)
Ref Sequence ENSEMBL: ENSMUSP00000153245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018061] [ENSMUST00000110369] [ENSMUST00000224228]
Predicted Effect probably damaging
Transcript: ENSMUST00000018061
AA Change: L13R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000018061
Gene: ENSMUSG00000021342
AA Change: L13R

DomainStartEndE-ValueType
Pfam:Hormone_1 15 225 1.6e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110369
AA Change: L16R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105998
Gene: ENSMUSG00000021342
AA Change: L16R

DomainStartEndE-ValueType
Pfam:Hormone_1 18 228 4.7e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223686
Predicted Effect probably damaging
Transcript: ENSMUST00000224228
AA Change: L14R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224627
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 the anterior pituitary hormone prolactin. This secreted hormone is a growth regulator for many tissues, including cells of the immune system. It may also play a role in cell survival by suppressing apoptosis, and it is essential for lactation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null female mice have irregular oestrus cycles and are infertile. Defects of the pituitary gland include hyperplasia, which progresses to adenoma, and impaired secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,852,171 C114* probably null Het
4933421I07Rik A G 7: 42,447,557 M110T probably damaging Het
Amer1 A G X: 95,426,511 V667A possibly damaging Het
Casr C T 16: 36,500,325 G487E probably damaging Het
Catsperd G A 17: 56,661,271 G552D probably damaging Het
Ceacam3 A G 7: 17,162,981 D624G possibly damaging Het
Celsr2 A G 3: 108,397,510 V2208A probably benign Het
Clca4a G A 3: 144,955,071 S664F probably damaging Het
Ddx23 A T 15: 98,658,318 S40T unknown Het
Dhodh G A 8: 109,606,264 R58* probably null Het
Dhx36 A G 3: 62,500,898 L173S possibly damaging Het
Dnaaf5 C T 5: 139,174,117 probably benign Het
Dnah3 T C 7: 119,966,247 D2546G probably damaging Het
Eef2 T G 10: 81,179,593 I316S probably benign Het
Efcab6 A T 15: 83,871,311 probably benign Het
Efcab6 T C 15: 84,032,942 D139G possibly damaging Het
Eif4g3 T A 4: 138,126,194 I357N possibly damaging Het
Elovl2 G A 13: 41,194,771 T44M probably benign Het
Fam92a T G 4: 12,164,080 probably benign Het
Fbln1 T A 15: 85,244,262 C553* probably null Het
Fip1l1 T C 5: 74,571,152 V310A probably damaging Het
Gast A G 11: 100,336,892 D100G probably benign Het
Gk G A X: 85,713,364 probably benign Het
Gm1330 G A 2: 148,999,385 probably benign Het
Hspg2 C A 4: 137,569,576 T4355K probably benign Het
Ipo7 T C 7: 110,048,828 V639A possibly damaging Het
Lrrc7 T C 3: 158,160,292 M1271V probably damaging Het
Msantd1 T A 5: 34,921,543 S141T probably damaging Het
Myo9b T C 8: 71,291,006 I237T probably damaging Het
Olfr1129 G A 2: 87,575,193 M36I probably benign Het
Olfr1286 A C 2: 111,420,772 Y60D probably damaging Het
Olfr322 T C 11: 58,665,643 F28S probably damaging Het
Olfr532 A T 7: 140,419,594 Y60N probably damaging Het
Pan2 A T 10: 128,310,741 M416L possibly damaging Het
Pank4 T C 4: 154,970,465 F209L probably damaging Het
Pcdhb13 A T 18: 37,442,991 I141L possibly damaging Het
Pik3r2 A G 8: 70,770,592 Y422H probably benign Het
Pramef17 T C 4: 143,993,202 K198E probably benign Het
Prdm4 A T 10: 85,907,917 I158N probably damaging Het
Rabl6 C A 2: 25,608,176 A23S probably damaging Het
Rbm15b T A 9: 106,884,977 H664L probably damaging Het
Rhobtb1 T A 10: 69,289,641 H618Q probably benign Het
Slc15a1 T C 14: 121,487,040 K140R probably damaging Het
Slc6a17 A G 3: 107,495,677 S145P possibly damaging Het
Snx31 T C 15: 36,525,582 T324A probably damaging Het
Spatc1l T C 10: 76,569,656 probably benign Het
Taar7b A G 10: 24,000,984 N349S probably benign Het
Tbx19 T C 1: 165,153,704 I74V probably benign Het
Tmtc2 G A 10: 105,190,099 T836I possibly damaging Het
Vmn2r72 C A 7: 85,738,699 M552I possibly damaging Het
Vsig10l A G 7: 43,463,914 T199A probably benign Het
Washc4 A T 10: 83,570,083 E481V probably damaging Het
Zc3h15 T A 2: 83,653,381 N33K probably damaging Het
Other mutations in Prl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Prl APN 13 27065041 missense possibly damaging 0.93
IGL02638:Prl APN 13 27061579 missense probably benign 0.02
IGL03093:Prl APN 13 27064887 missense probably benign 0.04
R0479:Prl UTSW 13 27064928 missense probably damaging 1.00
R1259:Prl UTSW 13 27061489 splice site probably null
R1489:Prl UTSW 13 27057636 missense probably damaging 0.96
R4392:Prl UTSW 13 27064351 missense possibly damaging 0.83
R5183:Prl UTSW 13 27057596 start gained probably benign
R6623:Prl UTSW 13 27061509 missense probably benign 0.01
R6831:Prl UTSW 13 27059547 missense probably benign 0.01
R6860:Prl UTSW 13 27064959 missense possibly damaging 0.89
R8806:Prl UTSW 13 27059532 missense probably damaging 0.98
Posted On2015-04-16