Incidental Mutation 'IGL03061:Casr'
ID409438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casr
Ensembl Gene ENSMUSG00000051980
Gene Namecalcium-sensing receptor
SynonymsCaR, cation sensing receptor, Gprc2a
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03061
Quality Score
Status
Chromosome16
Chromosomal Location36493696-36562141 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 36495888 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 530 (A530T)
Ref Sequence ENSEMBL: ENSMUSP00000110496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063597] [ENSMUST00000114847] [ENSMUST00000172826]
Predicted Effect probably benign
Transcript: ENSMUST00000063597
AA Change: A607T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000069080
Gene: ENSMUSG00000051980
AA Change: A607T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Peripla_BP_6 63 321 1e-13 PFAM
Pfam:ANF_receptor 69 495 1.1e-114 PFAM
Pfam:NCD3G 538 591 1.4e-20 PFAM
Pfam:7tm_3 624 859 7.4e-61 PFAM
low complexity region 894 920 N/A INTRINSIC
low complexity region 930 961 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114847
AA Change: A530T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110496
Gene: ENSMUSG00000051980
AA Change: A530T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Peripla_BP_6 63 321 2.1e-14 PFAM
Pfam:ANF_receptor 69 461 2.8e-99 PFAM
Pfam:NCD3G 461 514 1.2e-20 PFAM
Pfam:7tm_3 545 783 9.9e-87 PFAM
low complexity region 817 843 N/A INTRINSIC
low complexity region 853 884 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172826
AA Change: A607T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000133500
Gene: ENSMUSG00000051980
AA Change: A607T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Peripla_BP_6 63 321 2.4e-14 PFAM
Pfam:ANF_receptor 69 495 3.9e-111 PFAM
Pfam:NCD3G 538 591 1.4e-20 PFAM
Pfam:7tm_3 622 860 1.1e-86 PFAM
low complexity region 894 920 N/A INTRINSIC
low complexity region 930 961 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit high levels of serum calcium and parathyroid hormone, parathyroid hyperplasia, bone defects, reduced growth, and early death. Carriers have elevated serum calcium, magnesium, and parathyroid hormone levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,508,337 N106K probably damaging Het
Ak8 T C 2: 28,742,755 probably benign Het
BC016579 C T 16: 45,629,486 G190S probably damaging Het
C4bp A G 1: 130,636,717 V410A probably damaging Het
Cacna2d3 T C 14: 29,058,431 T658A probably damaging Het
Cadps2 T C 6: 23,287,660 probably null Het
Car10 G T 11: 93,490,525 V105F probably damaging Het
Car15 C T 16: 17,835,385 C306Y possibly damaging Het
Col5a3 A G 9: 20,797,572 probably null Het
Creld1 A G 6: 113,488,097 E95G probably damaging Het
Dcstamp T A 15: 39,760,397 D366E possibly damaging Het
Dnah11 T C 12: 117,903,121 Y4095C probably damaging Het
Eps8l2 A G 7: 141,357,235 probably benign Het
Gsn T C 2: 35,282,459 probably benign Het
Ifi27 T C 12: 103,435,544 V30A possibly damaging Het
Ifit1bl2 C T 19: 34,619,724 R164Q probably benign Het
Impg2 T C 16: 56,268,416 S1102P probably damaging Het
Kif24 G T 4: 41,394,323 P984Q possibly damaging Het
Krtap29-1 T A 11: 99,978,629 Q142L possibly damaging Het
Lpar6 C T 14: 73,239,070 T157I probably benign Het
Lrrc32 A T 7: 98,499,422 T470S probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mroh9 A T 1: 163,026,502 H776Q probably damaging Het
Myh7 T C 14: 54,991,204 probably benign Het
Myh7b A G 2: 155,620,111 N309S possibly damaging Het
Myo5b A T 18: 74,634,559 T313S probably benign Het
Myo5b G A 18: 74,580,544 probably benign Het
Npas4 C T 19: 4,986,337 V600M probably damaging Het
Nrxn3 T A 12: 89,511,928 Y557* probably null Het
Olfr169 T C 16: 19,566,713 T57A possibly damaging Het
Olfr552 A G 7: 102,604,739 I128M probably damaging Het
Olfr968 T A 9: 39,772,162 T213S probably benign Het
Pcdh15 A G 10: 74,317,011 I383V probably damaging Het
Pdzrn3 C A 6: 101,151,855 D617Y probably damaging Het
Prodh2 A T 7: 30,512,833 K408* probably null Het
Ptprs T C 17: 56,418,830 I1052V probably damaging Het
Rpl14 T C 9: 120,572,127 V12A probably damaging Het
Sf3a1 C T 11: 4,175,493 R428C probably damaging Het
Sgsm2 G T 11: 74,851,136 N1009K probably damaging Het
Slc28a2 A T 2: 122,454,499 I323F probably damaging Het
Snx19 T A 9: 30,433,632 F676I probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tg A C 15: 66,671,405 D56A probably damaging Het
Tln1 G T 4: 43,545,694 A928E probably damaging Het
Tmem94 T C 11: 115,792,421 S677P possibly damaging Het
Ttc41 C A 10: 86,736,857 H698N possibly damaging Het
Vcan T C 13: 89,703,275 T1189A probably benign Het
Vmn1r215 G T 13: 23,075,918 V43F probably damaging Het
Vmn2r28 A T 7: 5,484,016 N549K probably damaging Het
Zfp598 T C 17: 24,679,592 V455A probably benign Het
Other mutations in Casr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Casr APN 16 36495810 missense probably damaging 1.00
IGL01587:Casr APN 16 36509765 missense probably benign
IGL02323:Casr APN 16 36509710 missense probably damaging 1.00
IGL02369:Casr APN 16 36494689 missense probably benign 0.03
IGL02514:Casr APN 16 36500325 missense probably damaging 1.00
IGL02547:Casr APN 16 36515674 missense probably benign 0.06
IGL02633:Casr APN 16 36515655 missense probably damaging 1.00
R1163:Casr UTSW 16 36494807 missense probably damaging 1.00
R1539:Casr UTSW 16 36495137 missense probably benign 0.10
R1643:Casr UTSW 16 36500205 missense probably damaging 1.00
R1664:Casr UTSW 16 36509965 nonsense probably null
R1694:Casr UTSW 16 36495591 missense probably damaging 1.00
R2040:Casr UTSW 16 36510366 missense possibly damaging 0.79
R2092:Casr UTSW 16 36510043 missense possibly damaging 0.96
R2125:Casr UTSW 16 36495252 missense possibly damaging 0.90
R2190:Casr UTSW 16 36495416 missense probably damaging 1.00
R2214:Casr UTSW 16 36515758 missense probably damaging 1.00
R4409:Casr UTSW 16 36500341 missense probably benign 0.01
R4410:Casr UTSW 16 36500341 missense probably benign 0.01
R4591:Casr UTSW 16 36500370 missense probably benign 0.05
R5451:Casr UTSW 16 36509908 missense probably damaging 0.99
R5469:Casr UTSW 16 36510030 missense probably benign 0.29
R5581:Casr UTSW 16 36494744 missense probably benign 0.01
R5700:Casr UTSW 16 36509617 missense probably damaging 0.99
R6258:Casr UTSW 16 36517609 missense probably damaging 1.00
R6447:Casr UTSW 16 36495545 missense probably damaging 1.00
R6751:Casr UTSW 16 36515588 missense probably benign 0.00
R6938:Casr UTSW 16 36495921 missense probably damaging 1.00
R7063:Casr UTSW 16 36494574 missense probably benign 0.00
R7313:Casr UTSW 16 36509671 missense probably damaging 1.00
R7789:Casr UTSW 16 36495291 missense probably damaging 1.00
R8013:Casr UTSW 16 36509644 missense probably benign 0.22
R8026:Casr UTSW 16 36495617 missense probably damaging 1.00
R8141:Casr UTSW 16 36494811 missense probably damaging 1.00
R8184:Casr UTSW 16 36509746 missense probably benign
R8278:Casr UTSW 16 36515649 missense probably damaging 1.00
R8386:Casr UTSW 16 36515588 missense probably damaging 0.96
R8393:Casr UTSW 16 36510204 missense probably benign 0.02
Posted On2016-08-02