Incidental Mutation 'IGL01350:Prl7b1'
ID75319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prl7b1
Ensembl Gene ENSMUSG00000021347
Gene Nameprolactin family 7, subfamily b, member 1
SynonymsPLP-N, Prlpn, 1600014J19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01350
Quality Score
Status
Chromosome13
Chromosomal Location27601819-27610582 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 27602821 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 142 (T142S)
Ref Sequence ENSEMBL: ENSMUSP00000079431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080595]
Predicted Effect probably damaging
Transcript: ENSMUST00000080595
AA Change: T142S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000079431
Gene: ENSMUSG00000021347
AA Change: T142S

DomainStartEndE-ValueType
Pfam:Hormone_1 16 241 3.1e-60 PFAM
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,368,458 I926T probably benign Het
Adam39 T A 8: 40,825,839 C422* probably null Het
Aldh1l1 A G 6: 90,559,356 N81S probably damaging Het
Amd1 A T 10: 40,290,190 Y264* probably null Het
Axl T C 7: 25,758,750 Y851C probably damaging Het
Ccdc70 T C 8: 21,973,674 L160P probably damaging Het
Cd2ap A T 17: 42,825,921 Y273* probably null Het
Cyb5rl T C 4: 107,084,212 V278A possibly damaging Het
Cyp2c29 T C 19: 39,330,327 F417S probably damaging Het
Dnah7b C A 1: 46,081,432 probably benign Het
Epha4 A T 1: 77,506,855 D172E probably damaging Het
Eya4 T A 10: 23,113,974 I495F possibly damaging Het
Gpr150 A T 13: 76,056,423 H134Q probably benign Het
Gpr153 T G 4: 152,281,966 probably benign Het
Hipk2 A G 6: 38,818,315 Y333H probably damaging Het
Jakmip1 T C 5: 37,085,431 M21T probably benign Het
Kcnh3 A T 15: 99,241,992 I920F probably benign Het
Lrp2 G A 2: 69,510,984 R951C probably damaging Het
Msi1 A G 5: 115,435,521 K126R possibly damaging Het
Nkx2-6 T A 14: 69,174,773 F130Y probably damaging Het
Olfr1045 A G 2: 86,197,805 *316Q probably null Het
Olfr478 T C 7: 108,031,680 Y221C probably damaging Het
Olfr533 G T 7: 140,466,379 M59I probably damaging Het
Onecut2 T A 18: 64,341,089 L218Q probably damaging Het
Pah T A 10: 87,578,359 probably benign Het
Per2 C T 1: 91,430,861 E602K probably damaging Het
Plb1 C T 5: 32,317,064 T623M probably damaging Het
Prkaa2 T C 4: 105,051,912 probably null Het
Psd3 T C 8: 67,720,892 H1090R probably damaging Het
Siglecf G T 7: 43,355,895 probably benign Het
Tas2r118 A G 6: 23,969,747 V105A probably damaging Het
Thnsl1 T C 2: 21,212,200 V255A probably benign Het
Tmprss5 T A 9: 49,109,457 *84K probably null Het
Trrap C T 5: 144,830,969 L2579F possibly damaging Het
Vdac1 A G 11: 52,385,662 T211A probably benign Het
Vmn1r16 A T 6: 57,322,731 V302D possibly damaging Het
Wdr75 T A 1: 45,818,260 C572* probably null Het
Xpc A G 6: 91,500,011 S369P probably benign Het
Zdhhc20 A G 14: 57,873,987 V52A probably benign Het
Zfp977 T C 7: 42,580,666 Y145C probably damaging Het
Other mutations in Prl7b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Prl7b1 APN 13 27604590 missense probably damaging 0.98
IGL01602:Prl7b1 APN 13 27602044 missense possibly damaging 0.70
IGL01605:Prl7b1 APN 13 27602044 missense possibly damaging 0.70
IGL03106:Prl7b1 APN 13 27606935 missense probably benign 0.17
IGL03401:Prl7b1 APN 13 27601981 missense probably benign 0.02
fleshy UTSW 13 27602895 splice site probably null
R1169:Prl7b1 UTSW 13 27606904 missense possibly damaging 0.81
R1423:Prl7b1 UTSW 13 27602127 missense probably damaging 0.99
R1846:Prl7b1 UTSW 13 27602848 missense probably damaging 1.00
R2294:Prl7b1 UTSW 13 27602871 missense possibly damaging 0.93
R6049:Prl7b1 UTSW 13 27606178 missense probably benign 0.03
R6065:Prl7b1 UTSW 13 27604546 missense probably benign 0.01
R6324:Prl7b1 UTSW 13 27602895 splice site probably null
R6870:Prl7b1 UTSW 13 27604533 missense probably damaging 1.00
R7473:Prl7b1 UTSW 13 27602013 missense possibly damaging 0.70
R7742:Prl7b1 UTSW 13 27607048 missense probably benign 0.07
R8301:Prl7b1 UTSW 13 27602772 missense possibly damaging 0.69
Posted On2013-10-07