Incidental Mutation 'R2092:Casr'
ID 231876
Institutional Source Beutler Lab
Gene Symbol Casr
Ensembl Gene ENSMUSG00000051980
Gene Name calcium-sensing receptor
Synonyms CaR, cation sensing receptor, Gprc2a
MMRRC Submission 040097-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2092 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 36314058-36382503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36330405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 310 (Y310N)
Ref Sequence ENSEMBL: ENSMUSP00000133500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063597] [ENSMUST00000114847] [ENSMUST00000172826]
AlphaFold Q9QY96
Predicted Effect possibly damaging
Transcript: ENSMUST00000063597
AA Change: Y310N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069080
Gene: ENSMUSG00000051980
AA Change: Y310N

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 possibly damaging
Transcript: ENSMUST00000114847
AA Change: Y310N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110496
Gene: ENSMUSG00000051980
AA Change: Y310N

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 possibly damaging
Transcript: ENSMUST00000172826
AA Change: Y310N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133500
Gene: ENSMUSG00000051980
AA Change: Y310N

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,651,896 (GRCm39) C1321* probably null Het
Abca8b A G 11: 109,857,534 (GRCm39) F673L possibly damaging Het
Adam19 T G 11: 45,951,731 (GRCm39) probably null Het
AI987944 T C 7: 41,024,041 (GRCm39) T313A possibly damaging Het
Akap13 A T 7: 75,260,318 (GRCm39) I178F probably benign Het
Alb G GA 5: 90,611,842 (GRCm39) probably null Het
Bod1l A G 5: 41,988,860 (GRCm39) S416P probably damaging Het
Cela3a T C 4: 137,131,737 (GRCm39) N152S probably benign Het
Chrdl2 T A 7: 99,670,184 (GRCm39) C102* probably null Het
Col4a4 G A 1: 82,476,667 (GRCm39) S554L unknown Het
Col6a4 T C 9: 105,937,530 (GRCm39) K1392R probably damaging Het
Dab1 T G 4: 104,535,974 (GRCm39) Y128D probably damaging Het
Dars1 A T 1: 128,301,755 (GRCm39) M293K probably damaging Het
Dlec1 T C 9: 118,950,912 (GRCm39) F493L possibly damaging Het
Dmbt1 G T 7: 130,651,748 (GRCm39) W330L probably damaging Het
Dnah11 A T 12: 117,976,451 (GRCm39) M831K possibly damaging Het
Dock7 T C 4: 98,897,545 (GRCm39) N715S possibly damaging Het
Edc4 T A 8: 106,614,160 (GRCm39) L12Q probably damaging Het
Edem2 T C 2: 155,550,969 (GRCm39) M333V probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fto C A 8: 92,136,315 (GRCm39) Y194* probably null Het
Gnptab T G 10: 88,276,167 (GRCm39) Y1151* probably null Het
Grm1 A G 10: 10,564,969 (GRCm39) L1113P probably benign Het
Hnrnpa0 T C 13: 58,275,614 (GRCm39) K172E probably damaging Het
Ifitm1 A G 7: 140,549,427 (GRCm39) D70G probably damaging Het
Irx4 C A 13: 73,413,605 (GRCm39) T25K probably damaging Het
Kif22 C T 7: 126,632,802 (GRCm39) D195N probably damaging Het
Lrp2 C T 2: 69,366,365 (GRCm39) D245N probably benign Het
Lyz1 C T 10: 117,124,504 (GRCm39) R144Q probably benign Het
Macf1 T A 4: 123,276,971 (GRCm39) T6055S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Myh9 G A 15: 77,648,550 (GRCm39) Q80* probably null Het
Myo6 G T 9: 80,152,964 (GRCm39) R199L probably damaging Het
Naglu G A 11: 100,967,546 (GRCm39) V499I possibly damaging Het
Nfkbie T C 17: 45,869,465 (GRCm39) F140S probably benign Het
Or4p8 A G 2: 88,727,611 (GRCm39) F110S probably damaging Het
Or52ab7 G A 7: 102,978,316 (GRCm39) V208M probably damaging Het
Or52z1 A T 7: 103,437,279 (GRCm39) F68L possibly damaging Het
Or5b102 T A 19: 13,041,166 (GRCm39) Y130* probably null Het
Or5p81 CAAATA CA 7: 108,266,869 (GRCm39) probably null Het
Or8g21 A T 9: 38,906,485 (GRCm39) L82Q probably damaging Het
Otop1 A T 5: 38,457,110 (GRCm39) I290F probably damaging Het
P2rx2 C T 5: 110,489,007 (GRCm39) D203N probably damaging Het
Pcdhb10 T A 18: 37,547,240 (GRCm39) I772N probably benign Het
Pnliprp1 A G 19: 58,729,616 (GRCm39) H423R probably benign Het
Ptk2 A T 15: 73,108,040 (GRCm39) Y56* probably null Het
Rapgef3 T C 15: 97,658,604 (GRCm39) D134G probably damaging Het
Scaf11 A C 15: 96,313,708 (GRCm39) S1358A probably damaging Het
Scn9a T C 2: 66,363,720 (GRCm39) M844V probably damaging Het
Sh3tc1 T C 5: 35,858,002 (GRCm39) E1121G probably damaging Het
Slc25a15 T C 8: 22,870,950 (GRCm39) T176A probably damaging Het
Slc29a4 T A 5: 142,704,610 (GRCm39) I384N probably damaging Het
Slc40a1 A T 1: 45,948,614 (GRCm39) D555E probably benign Het
Smc5 T C 19: 23,216,263 (GRCm39) I446V probably benign Het
St6gal2 T C 17: 55,817,267 (GRCm39) Y477H probably damaging Het
Syngr1 A T 15: 80,000,141 (GRCm39) Q84L possibly damaging Het
Tedc1 T C 12: 113,121,340 (GRCm39) L187P probably damaging Het
Tg A G 15: 66,721,456 (GRCm39) I322V probably null Het
Thap12 T C 7: 98,365,656 (GRCm39) V608A possibly damaging Het
Tmbim6 T C 15: 99,299,949 (GRCm39) S22P probably damaging Het
Ttc3 C T 16: 94,243,691 (GRCm39) P1232S probably benign Het
Upk3a A G 15: 84,902,286 (GRCm39) T38A probably damaging Het
Utrn A T 10: 12,554,442 (GRCm39) M1549K probably benign Het
Vmn1r176 C T 7: 23,534,578 (GRCm39) D192N probably damaging Het
Vmn1r198 A G 13: 22,538,885 (GRCm39) T35A possibly damaging Het
Xkr7 C T 2: 152,895,983 (GRCm39) S279L probably damaging Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp641 G T 15: 98,191,593 (GRCm39) T31N probably benign Het
Zfp74 G A 7: 29,653,349 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- CCACGGGTAAAGGTCCTTTTG -3'
(R):5'- GACTTCAGCGAGCTCATCTC -3'

Sequencing Primer
(F):5'- AAAGGTCCTTTTGCGCCG -3'
(R):5'- TCTCCCAGTACTCTGATGAGGAAG -3'
Posted On 2014-09-18