Incidental Mutation 'IGL02633:Casr'
ID 301396
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 # IGL02633
Quality Score
Status
Chromosome 16
Chromosomal Location 36314058-36382503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36336017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 97 (I97M)
Ref Sequence ENSEMBL: ENSMUSP00000133500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063597] [ENSMUST00000114847] [ENSMUST00000172826]
AlphaFold Q9QY96
Predicted Effect probably damaging
Transcript: ENSMUST00000063597
AA Change: I97M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069080
Gene: ENSMUSG00000051980
AA Change: I97M

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 damaging
Transcript: ENSMUST00000114847
AA Change: I97M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110496
Gene: ENSMUSG00000051980
AA Change: I97M

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 noncoding transcript
Transcript: ENSMUST00000158493
Predicted Effect probably damaging
Transcript: ENSMUST00000172826
AA Change: I97M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133500
Gene: ENSMUSG00000051980
AA Change: I97M

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174750
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abitram T C 4: 56,806,131 (GRCm39) V181A possibly damaging Het
Aff4 T C 11: 53,300,198 (GRCm39) probably benign Het
Ap1g2 T C 14: 55,338,104 (GRCm39) probably null Het
Aspn A T 13: 49,705,363 (GRCm39) Y75F possibly damaging Het
Atm G A 9: 53,359,453 (GRCm39) T2783I probably damaging Het
Cacnb1 A T 11: 97,913,199 (GRCm39) I18N probably damaging Het
Cnga2 T A X: 71,048,655 (GRCm39) probably benign Het
Coasy T A 11: 100,976,147 (GRCm39) L425Q probably damaging Het
Cps1 A G 1: 67,162,396 (GRCm39) T25A probably benign Het
Dnah1 T C 14: 31,006,772 (GRCm39) Y2181C probably benign Het
Efna3 A C 3: 89,222,749 (GRCm39) S230A probably damaging Het
Eng A G 2: 32,563,286 (GRCm39) I281V probably damaging Het
Erlec1 T A 11: 30,898,430 (GRCm39) R14* probably null Het
Gbp9 C T 5: 105,231,431 (GRCm39) probably benign Het
Gzmg T C 14: 56,394,160 (GRCm39) M245V probably damaging Het
Kdm5a A G 6: 120,341,680 (GRCm39) I36V probably damaging Het
Krt87 A G 15: 101,389,095 (GRCm39) V79A probably damaging Het
Limd1 A T 9: 123,308,987 (GRCm39) probably benign Het
Lmo4 T C 3: 143,899,683 (GRCm39) S155G probably benign Het
Mrpl44 G A 1: 79,753,862 (GRCm39) V5I probably benign Het
Mrpl49 T C 19: 6,104,931 (GRCm39) T146A possibly damaging Het
Mrpl58 T C 11: 115,301,457 (GRCm39) probably benign Het
Nab1 C T 1: 52,529,292 (GRCm39) V202M probably damaging Het
Nav3 T A 10: 109,527,997 (GRCm39) M2229L probably benign Het
Notch2 C T 3: 98,024,013 (GRCm39) probably benign Het
Nub1 A G 5: 24,897,931 (GRCm39) I106V probably benign Het
Prom1 A T 5: 44,172,117 (GRCm39) S595T probably benign Het
Rbfox1 T A 16: 7,110,078 (GRCm39) S165R probably damaging Het
Sipa1l2 G A 8: 126,174,507 (GRCm39) T1257I probably damaging Het
Smarcc2 T C 10: 128,305,556 (GRCm39) S327P probably damaging Het
Tdpoz1 T C 3: 93,578,056 (GRCm39) M243V probably benign Het
Ttn G T 2: 76,549,289 (GRCm39) T23469K probably damaging Het
Ube2u T C 4: 100,339,971 (GRCm39) probably benign Het
Umodl1 T C 17: 31,208,462 (GRCm39) Y836H probably damaging Het
Vmn2r45 A G 7: 8,488,728 (GRCm39) Y101H probably benign Het
Vps13a T A 19: 16,697,772 (GRCm39) Q781L possibly damaging Het
Vwce G A 19: 10,625,858 (GRCm39) V457M probably damaging 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
IGL03061:Casr APN 16 36,316,250 (GRCm39) missense probably benign 0.07
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 2015-04-16