Incidental Mutation 'IGL03061:Casr'
ID 409438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casr
Ensembl Gene ENSMUSG00000051980
Gene Name calcium-sensing receptor
Synonyms CaR, cation sensing receptor, Gprc2a
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03061
Quality Score
Status
Chromosome 16
Chromosomal Location 36314058-36382503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36316250 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9QY96
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: 46,961,374 (GRCm39) N106K probably damaging Het
Ak8 T C 2: 28,632,767 (GRCm39) probably benign Het
BC016579 C T 16: 45,449,849 (GRCm39) G190S probably damaging Het
C4bp A G 1: 130,564,454 (GRCm39) V410A probably damaging Het
Cacna2d3 T C 14: 28,780,388 (GRCm39) T658A probably damaging Het
Cadps2 T C 6: 23,287,659 (GRCm39) probably null Het
Car10 G T 11: 93,381,351 (GRCm39) V105F probably damaging Het
Car15 C T 16: 17,653,249 (GRCm39) C306Y possibly damaging Het
Col5a3 A G 9: 20,708,868 (GRCm39) probably null Het
Creld1 A G 6: 113,465,058 (GRCm39) E95G probably damaging Het
Dcstamp T A 15: 39,623,793 (GRCm39) D366E possibly damaging Het
Dnah11 T C 12: 117,866,856 (GRCm39) Y4095C probably damaging Het
Eps8l2 A G 7: 140,937,148 (GRCm39) probably benign Het
Gsn T C 2: 35,172,471 (GRCm39) probably benign Het
Ifi27l2a T C 12: 103,401,803 (GRCm39) V30A possibly damaging Het
Ifit1bl2 C T 19: 34,597,124 (GRCm39) R164Q probably benign Het
Impg2 T C 16: 56,088,779 (GRCm39) S1102P probably damaging Het
Kif24 G T 4: 41,394,323 (GRCm39) P984Q possibly damaging Het
Krtap29-1 T A 11: 99,869,455 (GRCm39) Q142L possibly damaging Het
Lpar6 C T 14: 73,476,510 (GRCm39) T157I probably benign Het
Lrrc32 A T 7: 98,148,629 (GRCm39) T470S probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mroh9 A T 1: 162,854,071 (GRCm39) H776Q probably damaging Het
Myh7 T C 14: 55,228,661 (GRCm39) probably benign Het
Myh7b A G 2: 155,462,031 (GRCm39) N309S possibly damaging Het
Myo5b A T 18: 74,767,630 (GRCm39) T313S probably benign Het
Myo5b G A 18: 74,713,615 (GRCm39) probably benign Het
Npas4 C T 19: 5,036,365 (GRCm39) V600M probably damaging Het
Nrxn3 T A 12: 89,478,698 (GRCm39) Y557* probably null Het
Or2aj4 T C 16: 19,385,463 (GRCm39) T57A possibly damaging Het
Or52k2 A G 7: 102,253,946 (GRCm39) I128M probably damaging Het
Or8g53 T A 9: 39,683,458 (GRCm39) T213S probably benign Het
Pcdh15 A G 10: 74,152,843 (GRCm39) I383V probably damaging Het
Pdzrn3 C A 6: 101,128,816 (GRCm39) D617Y probably damaging Het
Prodh2 A T 7: 30,212,258 (GRCm39) K408* probably null Het
Ptprs T C 17: 56,725,830 (GRCm39) I1052V probably damaging Het
Rpl14 T C 9: 120,401,193 (GRCm39) V12A probably damaging Het
Sf3a1 C T 11: 4,125,493 (GRCm39) R428C probably damaging Het
Sgsm2 G T 11: 74,741,962 (GRCm39) N1009K probably damaging Het
Slc28a2 A T 2: 122,284,980 (GRCm39) I323F probably damaging Het
Snx19 T A 9: 30,344,928 (GRCm39) F676I probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tg A C 15: 66,543,254 (GRCm39) D56A probably damaging Het
Tln1 G T 4: 43,545,694 (GRCm39) A928E probably damaging Het
Tmem94 T C 11: 115,683,247 (GRCm39) S677P possibly damaging Het
Ttc41 C A 10: 86,572,721 (GRCm39) H698N possibly damaging Het
Vcan T C 13: 89,851,394 (GRCm39) T1189A probably benign Het
Vmn1r215 G T 13: 23,260,088 (GRCm39) V43F probably damaging Het
Vmn2r28 A T 7: 5,487,015 (GRCm39) N549K probably damaging Het
Zfp598 T C 17: 24,898,566 (GRCm39) V455A probably benign Het
Other mutations in Casr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Casr APN 16 36,316,172 (GRCm39) missense probably damaging 1.00
IGL01587:Casr APN 16 36,330,127 (GRCm39) missense probably benign
IGL02323:Casr APN 16 36,330,072 (GRCm39) missense probably damaging 1.00
IGL02369:Casr APN 16 36,315,051 (GRCm39) missense probably benign 0.03
IGL02514:Casr APN 16 36,320,687 (GRCm39) missense probably damaging 1.00
IGL02547:Casr APN 16 36,336,036 (GRCm39) missense probably benign 0.06
IGL02633:Casr APN 16 36,336,017 (GRCm39) missense probably damaging 1.00
R1163:Casr UTSW 16 36,315,169 (GRCm39) missense probably damaging 1.00
R1539:Casr UTSW 16 36,315,499 (GRCm39) missense probably benign 0.10
R1643:Casr UTSW 16 36,320,567 (GRCm39) missense probably damaging 1.00
R1664:Casr UTSW 16 36,330,327 (GRCm39) nonsense probably null
R1694:Casr UTSW 16 36,315,953 (GRCm39) missense probably damaging 1.00
R2040:Casr UTSW 16 36,330,728 (GRCm39) missense possibly damaging 0.79
R2092:Casr UTSW 16 36,330,405 (GRCm39) missense possibly damaging 0.96
R2125:Casr UTSW 16 36,315,614 (GRCm39) missense possibly damaging 0.90
R2190:Casr UTSW 16 36,315,778 (GRCm39) missense probably damaging 1.00
R2214:Casr UTSW 16 36,336,120 (GRCm39) missense probably damaging 1.00
R4409:Casr UTSW 16 36,320,703 (GRCm39) missense probably benign 0.01
R4410:Casr UTSW 16 36,320,703 (GRCm39) missense probably benign 0.01
R4591:Casr UTSW 16 36,320,732 (GRCm39) missense probably benign 0.05
R5451:Casr UTSW 16 36,330,270 (GRCm39) missense probably damaging 0.99
R5469:Casr UTSW 16 36,330,392 (GRCm39) missense probably benign 0.29
R5581:Casr UTSW 16 36,315,106 (GRCm39) missense probably benign 0.01
R5700:Casr UTSW 16 36,329,979 (GRCm39) missense probably damaging 0.99
R6258:Casr UTSW 16 36,337,971 (GRCm39) missense probably damaging 1.00
R6447:Casr UTSW 16 36,315,907 (GRCm39) missense probably damaging 1.00
R6751:Casr UTSW 16 36,335,950 (GRCm39) missense probably benign 0.00
R6938:Casr UTSW 16 36,316,283 (GRCm39) missense probably damaging 1.00
R7063:Casr UTSW 16 36,314,936 (GRCm39) missense probably benign 0.00
R7313:Casr UTSW 16 36,330,033 (GRCm39) missense probably damaging 1.00
R7789:Casr UTSW 16 36,315,653 (GRCm39) missense probably damaging 1.00
R8013:Casr UTSW 16 36,330,006 (GRCm39) missense probably benign 0.22
R8026:Casr UTSW 16 36,315,979 (GRCm39) missense probably damaging 1.00
R8141:Casr UTSW 16 36,315,173 (GRCm39) missense probably damaging 1.00
R8184:Casr UTSW 16 36,330,108 (GRCm39) missense probably benign
R8278:Casr UTSW 16 36,336,011 (GRCm39) missense probably damaging 1.00
R8386:Casr UTSW 16 36,335,950 (GRCm39) missense probably damaging 0.96
R8393:Casr UTSW 16 36,330,566 (GRCm39) missense probably benign 0.02
R8682:Casr UTSW 16 36,315,784 (GRCm39) missense possibly damaging 0.65
R9020:Casr UTSW 16 36,315,611 (GRCm39) missense probably damaging 1.00
R9051:Casr UTSW 16 36,330,414 (GRCm39) missense probably benign 0.00
R9260:Casr UTSW 16 36,330,326 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02