Incidental Mutation 'IGL01645:Pth2'
ID 102616
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pth2
Ensembl Gene ENSMUSG00000038300
Gene Name parathyroid hormone 2
Synonyms Tifp39, TIP39
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # IGL01645
Quality Score
Status
Chromosome 7
Chromosomal Location 44830419-44831262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44830764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 29 (L29Q)
Ref Sequence ENSEMBL: ENSMUSP00000147367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042754] [ENSMUST00000121017] [ENSMUST00000179443] [ENSMUST00000210086] [ENSMUST00000211004]
AlphaFold Q91W27
Predicted Effect possibly damaging
Transcript: ENSMUST00000042754
AA Change: L16Q

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041047
Gene: ENSMUSG00000038300
AA Change: L16Q

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:TIP39 49 99 5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121017
SMART Domains Protein: ENSMUSP00000113616
Gene: ENSMUSG00000038292

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
Pfam:EF-hand_9 108 175 8e-31 PFAM
Pfam:KASH_CCD 227 419 2.4e-90 PFAM
low complexity region 472 498 N/A INTRINSIC
low complexity region 607 633 N/A INTRINSIC
low complexity region 638 647 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179443
SMART Domains Protein: ENSMUSP00000135927
Gene: ENSMUSG00000095276

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 58 77 N/A INTRINSIC
low complexity region 142 161 N/A INTRINSIC
SCOP:d1fftc1 399 431 5e-4 SMART
low complexity region 470 488 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000210086
AA Change: L29Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000211004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211277
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the precursor of a peptide hormone that shares sequence similarity with the parathyroid hormone. This gene is expressed in various regions of the brain where it plays a role in the release of pituitary hormones, anxiety and nociception. The encoded precursor protein is proteolytically processed to generate the biologically active neuropeptide. Mice lacking the encoded protein display increased fear and anxiety after exposure to stressful events, and decreased sensitivity to pain. [provided by RefSeq, Aug 2015]
PHENOTYPE: Both sexes of mice homozygous for a null allele are sterile. Female homozygotes display very small atretic ovaries without follicles while male homozygotes lack postmeiotic germ cells due to a block during prophase of meiosis I and subsequent death of developing spermatocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C T 7: 45,764,477 (GRCm39) C1156Y possibly damaging Het
Armh4 T C 14: 50,011,011 (GRCm39) E232G probably damaging Het
Atp8b1 G A 18: 64,679,184 (GRCm39) H766Y probably benign Het
Cacna2d1 C A 5: 16,217,389 (GRCm39) probably null Het
Card11 T A 5: 140,863,778 (GRCm39) T987S probably benign Het
Dennd2b T A 7: 109,126,841 (GRCm39) K540* probably null Het
Dmxl2 A T 9: 54,286,017 (GRCm39) Y2723N possibly damaging Het
Dnah11 T A 12: 118,150,733 (GRCm39) I342F possibly damaging Het
Dnajc10 A G 2: 80,170,871 (GRCm39) H454R possibly damaging Het
Dpy19l3 T C 7: 35,394,763 (GRCm39) T592A probably benign Het
Eea1 T A 10: 95,825,451 (GRCm39) S49T probably damaging Het
Esd T A 14: 74,987,159 (GRCm39) N294K probably benign Het
Fmo3 A G 1: 162,791,575 (GRCm39) V234A possibly damaging Het
Folh1 A G 7: 86,391,435 (GRCm39) F420L probably damaging Het
Gabra1 T C 11: 42,026,389 (GRCm39) N301S probably damaging Het
Gm5422 A T 10: 31,126,069 (GRCm39) noncoding transcript Het
Gorab A T 1: 163,214,000 (GRCm39) L310Q possibly damaging Het
Gsdme A G 6: 50,228,316 (GRCm39) Y51H probably damaging Het
Hrob T C 11: 102,146,012 (GRCm39) L96P probably damaging Het
Itpr1 T C 6: 108,450,560 (GRCm39) I1964T possibly damaging Het
Lmbr1 A G 5: 29,440,053 (GRCm39) L410P probably damaging Het
Lrrc37a T C 11: 103,395,090 (GRCm39) R112G probably benign Het
Mrgpra6 T C 7: 46,835,681 (GRCm39) T247A probably benign Het
Mroh4 A G 15: 74,483,207 (GRCm39) probably benign Het
Mycbpap T C 11: 94,394,293 (GRCm39) probably null Het
Myoz2 T A 3: 122,827,881 (GRCm39) K12N probably damaging Het
Odad2 T C 18: 7,268,491 (GRCm39) S343G probably benign Het
Or1d2 T C 11: 74,256,359 (GRCm39) I288T possibly damaging Het
P3h1 T G 4: 119,093,980 (GRCm39) F212V probably damaging Het
Pcnx2 T C 8: 126,614,656 (GRCm39) D265G probably damaging Het
Pkd1l3 C T 8: 110,361,934 (GRCm39) T992I possibly damaging Het
Prss58 T C 6: 40,874,244 (GRCm39) D144G probably damaging Het
Rab1b A C 19: 5,154,962 (GRCm39) probably benign Het
Rasa2 A T 9: 96,464,834 (GRCm39) C190* probably null Het
Scn9a T C 2: 66,317,986 (GRCm39) K1501E possibly damaging Het
Selenoi A G 5: 30,462,821 (GRCm39) probably benign Het
Slc11a2 T C 15: 100,286,999 (GRCm39) N558S probably benign Het
Sox10 T C 15: 79,040,539 (GRCm39) I173V probably benign Het
Sra1 A C 18: 36,804,526 (GRCm39) F476C probably damaging Het
Tmem119 T A 5: 113,933,409 (GRCm39) K131* probably null Het
Trim12c T A 7: 103,994,261 (GRCm39) K198* probably null Het
Ttn A G 2: 76,681,904 (GRCm39) probably benign Het
Unc119b C T 5: 115,265,371 (GRCm39) V154I probably benign Het
Usp47 T A 7: 111,654,069 (GRCm39) S108R probably damaging Het
Vmn1r15 T A 6: 57,235,547 (GRCm39) C138* probably null Het
Vmn1r191 T C 13: 22,363,614 (GRCm39) I47V probably benign Het
Wnt3 C T 11: 103,703,204 (GRCm39) A229V probably benign Het
Other mutations in Pth2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2000:Pth2 UTSW 7 44,831,146 (GRCm39) missense possibly damaging 0.71
R4840:Pth2 UTSW 7 44,830,767 (GRCm39) missense probably damaging 1.00
R7743:Pth2 UTSW 7 44,830,733 (GRCm39) missense probably benign
Z1177:Pth2 UTSW 7 44,830,639 (GRCm39) unclassified probably benign
Posted On 2014-01-21