Mutagenetix > Incidental Mutation

Incidental Mutation 'R1163:Casr'

100702

Institutional Source

Beutler Lab

Gene Symbol

Casr

Ensembl Gene

ENSMUSG00000051980

Gene Name

calcium-sensing receptor

Synonyms

CaR, cation sensing receptor, Gprc2a

MMRRC Submission

039236-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1163 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36314058-36382503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36315169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 967 (V967D)

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: V967D

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

SMART Domains

Protein: ENSMUSP00000069080
Gene: ENSMUSG00000051980
AA Change: V967D

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 benign
Transcript: ENSMUST00000114847
AA Change: V890D

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110496
Gene: ENSMUSG00000051980
AA Change: V890D

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

probably damaging
Transcript: ENSMUST00000172826
AA Change: V967D

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

SMART Domains

Protein: ENSMUSP00000133500
Gene: ENSMUSG00000051980
AA Change: V967D

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	A	10: 86,957,284 (GRCm39)	Y7N	probably damaging	Het
4930579F01Rik	T	G	3: 137,882,271 (GRCm39)	D18A	probably damaging	Het
Abca8a	T	C	11: 109,962,356 (GRCm39)	D499G	probably benign	Het
Adamts1	G	C	16: 85,599,525 (GRCm39)	A25G	probably benign	Het
Adamts2	A	T	11: 50,670,541 (GRCm39)	I552F	probably damaging	Het
Akap3	A	G	6: 126,841,750 (GRCm39)	D123G	probably damaging	Het
Ankar	C	T	1: 72,727,864 (GRCm39)	V350I	possibly damaging	Het
Apob	A	G	12: 8,061,654 (GRCm39)	T3379A	probably damaging	Het
Ash1l	G	T	3: 88,942,570 (GRCm39)		probably null	Het
Atp2b1	T	C	10: 98,815,713 (GRCm39)	I119T	possibly damaging	Het
B3gnt2	A	T	11: 22,786,558 (GRCm39)	M210K	probably benign	Het
Bcl11a	A	G	11: 24,115,143 (GRCm39)	N829D	probably benign	Het
Btnl4	T	C	17: 34,689,049 (GRCm39)	E337G	possibly damaging	Het
Cd200	A	T	16: 45,212,715 (GRCm39)	V244D	probably damaging	Het
Cd200r4	A	G	16: 44,658,383 (GRCm39)	N256D	probably benign	Het
Cep68	A	G	11: 20,190,539 (GRCm39)	S158P	probably damaging	Het
Chst10	A	T	1: 38,910,783 (GRCm39)	V123D	probably damaging	Het
Cobll1	T	C	2: 64,928,623 (GRCm39)	H938R	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dmkn	T	G	7: 30,464,476 (GRCm39)	C205G	probably damaging	Het
Dock8	A	G	19: 25,028,867 (GRCm39)	I24V	probably benign	Het
Dpp3	C	T	19: 4,964,951 (GRCm39)	W488*	probably null	Het
Dpp9	C	A	17: 56,506,426 (GRCm39)	A365S	possibly damaging	Het
Egfr	A	T	11: 16,833,546 (GRCm39)	T605S	probably benign	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fam83g	T	C	11: 61,594,262 (GRCm39)	S599P	probably damaging	Het
Fscn1	G	T	5: 142,946,598 (GRCm39)	W132L	probably damaging	Het
Gbp2b	A	G	3: 142,304,857 (GRCm39)	T98A	probably damaging	Het
Gm4922	C	T	10: 18,659,469 (GRCm39)	A418T	possibly damaging	Het
Golgb1	G	T	16: 36,736,488 (GRCm39)	V1912L	possibly damaging	Het
Gon4l	T	C	3: 88,799,842 (GRCm39)	L829P	probably damaging	Het
Grm3	T	A	5: 9,620,738 (GRCm39)	I169L	probably benign	Het
Gsdma2	A	G	11: 98,541,684 (GRCm39)	D137G	probably damaging	Het
Hhip	T	C	8: 80,719,105 (GRCm39)	Y474C	probably damaging	Het
Hsph1	A	T	5: 149,554,266 (GRCm39)	V163E	probably damaging	Het
Ifi203	T	C	1: 173,751,703 (GRCm39)	K373E	probably damaging	Het
Itsn2	A	G	12: 4,762,009 (GRCm39)	T1540A	probably benign	Het
Kdm1b	T	C	13: 47,225,398 (GRCm39)	V527A	probably benign	Het
Kdm5d	G	A	Y: 898,029 (GRCm39)	A22T	probably benign	Het
Khdrbs1	A	T	4: 129,619,379 (GRCm39)	F254Y	possibly damaging	Het
Kif26a	T	C	12: 112,146,379 (GRCm39)	F1822L	probably benign	Het
Krt1	C	A	15: 101,756,600 (GRCm39)	E308*	probably null	Het
Lrrc47	T	A	4: 154,096,274 (GRCm39)	M1K	probably null	Het
Mrgpra4	A	T	7: 47,631,224 (GRCm39)	W126R	probably damaging	Het
Nlrp4e	G	A	7: 23,020,397 (GRCm39)	V295I	probably benign	Het
Or1l4b	A	T	2: 37,037,039 (GRCm39)	T272S	probably damaging	Het
Or2f1	G	A	6: 42,721,057 (GRCm39)	V29I	probably benign	Het
Or4c10	G	T	2: 89,760,449 (GRCm39)	V99F	possibly damaging	Het
Or5ac19	A	G	16: 59,089,518 (GRCm39)	S171P	probably benign	Het
Or5ac24	A	T	16: 59,165,425 (GRCm39)	I213N	probably damaging	Het
Or5b96	T	A	19: 12,867,513 (GRCm39)	T143S	probably benign	Het
Or6c66	A	G	10: 129,461,516 (GRCm39)	V138A	possibly damaging	Het
Or8h10	A	G	2: 86,809,020 (GRCm39)	L40P	probably damaging	Het
Or8k41	A	T	2: 86,313,582 (GRCm39)	F168Y	probably damaging	Het
Plec	G	T	15: 76,068,038 (GRCm39)	N1190K	possibly damaging	Het
Plin1	T	C	7: 79,379,719 (GRCm39)	T44A	probably damaging	Het
Pou3f2	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	4: 22,487,697 (GRCm39)		probably benign	Het
Pramel22	A	G	4: 143,383,204 (GRCm39)	L5P	probably damaging	Het
Psg27	A	G	7: 18,299,234 (GRCm39)	L29P	probably damaging	Het
Psmd13	C	A	7: 140,477,367 (GRCm39)	T292N	probably damaging	Het
Rab1b	A	T	19: 5,154,684 (GRCm39)	Y88*	probably null	Het
Reln	T	A	5: 22,104,027 (GRCm39)	I3315L	probably benign	Het
Rmdn2	A	T	17: 79,966,880 (GRCm39)	M257L	probably benign	Het
Rnd1	A	T	15: 98,574,435 (GRCm39)	F47L	probably damaging	Het
Rnf41	G	A	10: 128,274,076 (GRCm39)	V243I	probably benign	Het
Rnf43	C	G	11: 87,620,339 (GRCm39)	S226R	probably damaging	Het
Scn5a	A	T	9: 119,362,993 (GRCm39)	D542E	probably damaging	Het
Sema5b	A	T	16: 35,448,466 (GRCm39)	I81F	probably benign	Het
Serinc5	G	A	13: 92,819,285 (GRCm39)	C73Y	probably damaging	Het
Serpina3g	A	T	12: 104,205,551 (GRCm39)	N97Y	possibly damaging	Het
Shq1	A	G	6: 100,614,033 (GRCm39)	S262P	probably damaging	Het
Smad4	A	T	18: 73,781,978 (GRCm39)	I428N	probably damaging	Het
Snip1	G	T	4: 124,966,613 (GRCm39)	G348W	probably damaging	Het
Spg11	A	G	2: 121,901,422 (GRCm39)	L1506P	probably damaging	Het
Stard9	G	A	2: 120,526,694 (GRCm39)	V984I	possibly damaging	Het
Svopl	A	T	6: 38,006,635 (GRCm39)	F121I	possibly damaging	Het
Tjp1	A	T	7: 64,972,802 (GRCm39)	V546E	probably damaging	Het
Tmem116	T	A	5: 121,631,819 (GRCm39)	F110L	probably damaging	Het
Ttyh2	C	T	11: 114,601,714 (GRCm39)	T446M	probably benign	Het
Tubb1	A	T	2: 174,299,532 (GRCm39)	I405L	probably benign	Het
Uba5	A	T	9: 103,933,025 (GRCm39)	F155L	possibly damaging	Het
Ubd	C	T	17: 37,506,212 (GRCm39)	H33Y	probably damaging	Het
Ube3d	A	T	9: 86,322,648 (GRCm39)	D175E	probably benign	Het
Usp24	A	G	4: 106,278,157 (GRCm39)	Q2293R	probably benign	Het
Vmn1r175	T	A	7: 23,507,937 (GRCm39)	H230L	probably benign	Het
Vmn1r88	A	G	7: 12,912,060 (GRCm39)	I139V	probably benign	Het
Vmn2r1	T	C	3: 63,994,046 (GRCm39)	F131L	probably benign	Het
Yipf3	T	C	17: 46,562,155 (GRCm39)		probably null	Het
Zdhhc19	A	G	16: 32,325,258 (GRCm39)	K192R	probably benign	Het
Zfy1	G	A	Y: 725,611 (GRCm39)	T718I	probably damaging	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
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

Predicted Primers

Posted On

2014-01-15