Mutagenetix > Incidental Mutation

Incidental Mutation 'R6258:Casr'

506508

Institutional Source

Beutler Lab

Gene Symbol

Casr

Ensembl Gene

ENSMUSG00000051980

Gene Name

calcium-sensing receptor

Synonyms

CaR, cation sensing receptor, Gprc2a

MMRRC Submission

044375-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36314058-36382503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36337971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 60 (C60R)

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: C60R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069080
Gene: ENSMUSG00000051980
AA Change: C60R

Domain	Start	End	E-Value	Type
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: C60R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110496
Gene: ENSMUSG00000051980
AA Change: C60R

Domain	Start	End	E-Value	Type
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: C60R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133500
Gene: ENSMUSG00000051980
AA Change: C60R

Domain	Start	End	E-Value	Type
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

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

99% (74/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	C	7: 82,178,191 (GRCm39)		probably null	Het
Alms1	A	T	6: 85,605,717 (GRCm39)	K2456*	probably null	Het
Alppl2	A	T	1: 87,016,184 (GRCm39)	M225K	probably damaging	Het
AU041133	A	G	10: 81,986,992 (GRCm39)	E215G	probably damaging	Het
Carmil3	T	A	14: 55,737,889 (GRCm39)	L815Q	probably damaging	Het
Cdc7	A	G	5: 107,117,093 (GRCm39)	K84E	probably damaging	Het
Cdc73	G	A	1: 143,567,211 (GRCm39)	T104I	probably benign	Het
Clcc1	G	A	3: 108,580,624 (GRCm39)	V313I	possibly damaging	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Crocc2	A	G	1: 93,141,360 (GRCm39)	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,676,281 (GRCm39)	V86A	probably damaging	Het
Cyp2s1	ACAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAG	7: 25,515,867 (GRCm39)		probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah17	C	A	11: 118,017,148 (GRCm39)	W197C	probably damaging	Het
Dnah17	A	T	11: 118,017,150 (GRCm39)	W197R	probably damaging	Het
Dnah17	C	T	11: 118,017,149 (GRCm39)	W197*	probably null	Het
Egflam	T	A	15: 7,263,773 (GRCm39)	T726S	probably damaging	Het
Eml2	T	G	7: 18,913,289 (GRCm39)		probably null	Het
Ercc6	T	A	14: 32,279,813 (GRCm39)	D609E	probably benign	Het
Erg	C	A	16: 95,181,100 (GRCm39)	R147L	probably damaging	Het
Faiml	T	C	9: 99,114,513 (GRCm39)	I125M	possibly damaging	Het
Fbxo41	A	T	6: 85,455,537 (GRCm39)	L549H	probably damaging	Het
Fbxw2	A	T	2: 34,702,825 (GRCm39)		probably null	Het
Fgd6	T	A	10: 93,880,161 (GRCm39)	N338K	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gm32742	T	A	9: 51,068,862 (GRCm39)	I200F	probably damaging	Het
Gm4924	T	G	10: 82,213,307 (GRCm39)		probably benign	Het
Gm8369	G	A	19: 11,488,973 (GRCm39)	A87T	possibly damaging	Het
H2-M10.1	T	A	17: 36,634,994 (GRCm39)	I304F	unknown	Het
Ighv5-8	A	G	12: 113,618,611 (GRCm39)	T9A	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jakmip1	G	T	5: 37,299,104 (GRCm39)	E775*	probably null	Het
Klhl40	T	C	9: 121,607,026 (GRCm39)	F62S	probably damaging	Het
Krtcap3	A	T	5: 31,409,572 (GRCm39)	R84W	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lins1	T	C	7: 66,360,496 (GRCm39)		probably null	Het
Magi3	A	G	3: 103,996,912 (GRCm39)	L211P	probably damaging	Het
Map2k5	T	A	9: 63,124,647 (GRCm39)	I359F	probably benign	Het
Map4k5	C	A	12: 69,878,336 (GRCm39)	R355L	probably benign	Het
Mef2c	T	A	13: 83,801,057 (GRCm39)	D252E	probably damaging	Het
Methig1	T	C	15: 100,251,422 (GRCm39)	V111A	possibly damaging	Het
Mical3	A	T	6: 120,985,991 (GRCm39)	L150Q	probably damaging	Het
Nf1	A	T	11: 79,456,581 (GRCm39)		probably null	Het
Nisch	T	A	14: 30,899,085 (GRCm39)		probably benign	Het
Or4f15	C	T	2: 111,814,396 (GRCm39)	V8I	probably benign	Het
Or5p61	T	C	7: 107,758,181 (GRCm39)	N300D	probably damaging	Het
Pcdhb12	T	C	18: 37,569,892 (GRCm39)	V346A	probably benign	Het
Pde7b	T	C	10: 20,316,546 (GRCm39)	D168G	possibly damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Pla2g4a	A	G	1: 149,733,238 (GRCm39)	S504P	probably benign	Het
Plin2	G	T	4: 86,575,526 (GRCm39)	A341D	probably damaging	Het
Psma8	A	G	18: 14,854,324 (GRCm39)	D68G	probably damaging	Het
Rcor3	G	A	1: 191,808,559 (GRCm39)	H207Y	probably benign	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Ryr3	A	G	2: 112,490,449 (GRCm39)	F3795S	probably damaging	Het
Samm50	C	G	15: 84,084,512 (GRCm39)	P150A	probably damaging	Het
Samm50	C	A	15: 84,084,513 (GRCm39)	P150H	probably damaging	Het
Slc28a2b	A	T	2: 122,353,963 (GRCm39)	I530F	probably damaging	Het
Slc6a18	A	T	13: 73,818,164 (GRCm39)	C284*	probably null	Het
Smc3	T	A	19: 53,616,162 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,060,343 (GRCm39)	G529D	possibly damaging	Het
Sord	T	A	2: 122,089,613 (GRCm39)		probably null	Het
Spdl1	T	A	11: 34,710,713 (GRCm39)	N345I	probably damaging	Het
Sucnr1	T	C	3: 59,993,778 (GRCm39)	L102P	probably damaging	Het
Tbc1d9	T	C	8: 83,937,145 (GRCm39)	W76R	probably damaging	Het
Tcerg1	T	A	18: 42,686,530 (GRCm39)	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,595,655 (GRCm39)	T492A	probably benign	Het
Trdmt1	T	A	2: 13,524,870 (GRCm39)	Q195L	probably benign	Het
Ubr3	A	G	2: 69,813,208 (GRCm39)		probably null	Het
Ung	A	T	5: 114,275,361 (GRCm39)	Y250F	probably benign	Het
Vezf1	A	G	11: 87,972,326 (GRCm39)	N229S	probably damaging	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	possibly damaging	Het
Wdr97	C	A	15: 76,239,895 (GRCm39)	S277*	probably null	Het
Zfp1007	T	C	5: 109,824,433 (GRCm39)	H339R	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zscan4-ps1	C	A	7: 10,799,829 (GRCm39)	E353D	probably benign	Het

Other mutations in Casr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CCTTGACAGACCTGGTGTTTTC -3'
(R):5'- ACCTTTAACTGTCCCCTGGAG -3'

Sequencing Primer
(F):5'- GACAGACCTGGTGTTTTCTATACC -3'
(R):5'- CTTTAACTGTCCCCTGGAGAGAAG -3'

Posted On

2018-03-15