Incidental Mutation 'R2294:Prl7b1'
ID 245112
Institutional Source Beutler Lab
Gene Symbol Prl7b1
Ensembl Gene ENSMUSG00000021347
Gene Name prolactin family 7, subfamily b, member 1
Synonyms PLP-N, Prlpn, 1600014J19Rik
MMRRC Submission 040293-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2294 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 27785802-27794565 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27786854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 125 (M125K)
Ref Sequence ENSEMBL: ENSMUSP00000079431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080595]
AlphaFold Q8CGZ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000080595
AA Change: M125K

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079431
Gene: ENSMUSG00000021347
AA Change: M125K

DomainStartEndE-ValueType
Pfam:Hormone_1 16 241 3.1e-60 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (30/30)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced fetal growth and survival following exposure of dams to low oxygen conditions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 C T 15: 98,495,322 (GRCm39) V673I possibly damaging Het
Bsn C T 9: 107,990,266 (GRCm39) A1829T possibly damaging Het
Chchd3 T C 6: 32,829,122 (GRCm39) E166G probably damaging Het
Chrna7 A T 7: 62,760,172 (GRCm39) S135T probably benign Het
Dxo G A 17: 35,057,962 (GRCm39) probably null Het
Fbxw18 A G 9: 109,505,865 (GRCm39) S469P probably damaging Het
G3bp2 G A 5: 92,205,887 (GRCm39) R290C probably damaging Het
Hydin T C 8: 111,026,591 (GRCm39) L103P probably damaging Het
Lrig3 C T 10: 125,802,363 (GRCm39) R7* probably null Het
Lrp6 A G 6: 134,434,705 (GRCm39) C1333R probably damaging Het
Luzp2 T C 7: 54,821,938 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,680 (GRCm39) N154I probably damaging Het
Ndufs1 A T 1: 63,200,155 (GRCm39) D252E probably damaging Het
Nos3 T A 5: 24,569,855 (GRCm39) V7E probably damaging Het
Or1e33 A G 11: 73,738,312 (GRCm39) L213P probably damaging Het
Osbpl6 A T 2: 76,407,423 (GRCm39) D446V possibly damaging Het
Pik3c2b C A 1: 132,994,513 (GRCm39) P159H probably damaging Het
Pkhd1l1 C T 15: 44,343,003 (GRCm39) T160I probably damaging Het
Prelid3a C T 18: 67,605,941 (GRCm39) T16M probably damaging Het
Rars1 C A 11: 35,708,363 (GRCm39) probably benign Het
Ripk1 A G 13: 34,200,991 (GRCm39) T235A probably benign Het
Slc38a2 C A 15: 96,589,643 (GRCm39) V363L probably benign Het
Slc6a21 G A 7: 44,929,952 (GRCm39) A147T possibly damaging Het
Tgfb3 T C 12: 86,116,684 (GRCm39) N118S probably benign Het
Tmem175 T C 5: 108,786,525 (GRCm39) probably benign Het
Tmem232 A T 17: 65,757,436 (GRCm39) N252K probably benign Het
Trappc8 G T 18: 20,999,211 (GRCm39) C305* probably null Het
Tyro3 T C 2: 119,636,126 (GRCm39) V223A probably damaging Het
Yipf2 C T 9: 21,501,177 (GRCm39) V74M probably damaging Het
Other mutations in Prl7b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Prl7b1 APN 13 27,788,573 (GRCm39) missense probably damaging 0.98
IGL01350:Prl7b1 APN 13 27,786,804 (GRCm39) missense probably damaging 1.00
IGL01602:Prl7b1 APN 13 27,786,027 (GRCm39) missense possibly damaging 0.70
IGL01605:Prl7b1 APN 13 27,786,027 (GRCm39) missense possibly damaging 0.70
IGL03106:Prl7b1 APN 13 27,790,918 (GRCm39) missense probably benign 0.17
IGL03401:Prl7b1 APN 13 27,785,964 (GRCm39) missense probably benign 0.02
fleshy UTSW 13 27,786,878 (GRCm39) splice site probably null
G1Funyon:Prl7b1 UTSW 13 27,786,755 (GRCm39) missense possibly damaging 0.69
R1169:Prl7b1 UTSW 13 27,790,887 (GRCm39) missense possibly damaging 0.81
R1423:Prl7b1 UTSW 13 27,786,110 (GRCm39) missense probably damaging 0.99
R1846:Prl7b1 UTSW 13 27,786,831 (GRCm39) missense probably damaging 1.00
R6049:Prl7b1 UTSW 13 27,790,161 (GRCm39) missense probably benign 0.03
R6065:Prl7b1 UTSW 13 27,788,529 (GRCm39) missense probably benign 0.01
R6324:Prl7b1 UTSW 13 27,786,878 (GRCm39) splice site probably null
R6870:Prl7b1 UTSW 13 27,788,516 (GRCm39) missense probably damaging 1.00
R7473:Prl7b1 UTSW 13 27,785,996 (GRCm39) missense possibly damaging 0.70
R7742:Prl7b1 UTSW 13 27,791,031 (GRCm39) missense probably benign 0.07
R8301:Prl7b1 UTSW 13 27,786,755 (GRCm39) missense possibly damaging 0.69
R9131:Prl7b1 UTSW 13 27,790,968 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGCTCTATCCCTTAGTGGCAAG -3'
(R):5'- TGCAGGAGAGTGGCTGAAATTC -3'

Sequencing Primer
(F):5'- GTGGAAAGTAAGAATATGTCTCACC -3'
(R):5'- GGAGAGTGGCTGAAATTCTATAACTC -3'
Posted On 2014-10-30