Mutagenetix > Incidental Mutation

Incidental Mutation 'R9260:Casr'

702208

Institutional Source

Beutler Lab

Gene Symbol

Casr

Ensembl Gene

ENSMUSG00000051980

Gene Name

calcium-sensing receptor

Synonyms

CaR, cation sensing receptor, Gprc2a

MMRRC Submission

068962-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36314058-36382503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36330326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 336 (K336R)

Ref Sequence

ENSEMBL: ENSMUSP00000069080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063597] [ENSMUST00000114847] [ENSMUST00000172826]

AlphaFold

Q9QY96

Predicted Effect

probably benign
Transcript: ENSMUST00000063597
AA Change: K336R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000069080
Gene: ENSMUSG00000051980
AA Change: K336R

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: K336R

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110496
Gene: ENSMUSG00000051980
AA Change: K336R

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 benign
Transcript: ENSMUST00000172826
AA Change: K336R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000133500
Gene: ENSMUSG00000051980
AA Change: K336R

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

Meta Mutation Damage Score

0.0871

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1a4	A	G	1: 172,074,359 (GRCm39)	I298T	probably damaging	Het
Bmper	T	A	9: 23,318,016 (GRCm39)	L545H	probably benign	Het
Cacnb3	A	G	15: 98,537,438 (GRCm39)	S39G	probably benign	Het
Ccdc141	C	A	2: 76,844,795 (GRCm39)	G1424V	probably damaging	Het
Cd101	A	T	3: 100,920,599 (GRCm39)	D437E	probably benign	Het
Chadl	A	G	15: 81,578,058 (GRCm39)	S524P	probably damaging	Het
Cimap2	T	C	4: 106,472,634 (GRCm39)	K84E	probably benign	Het
Clec4a4	C	T	6: 123,000,895 (GRCm39)	R203*	probably null	Het
Cntnap4	A	G	8: 113,500,276 (GRCm39)	I523V	probably benign	Het
Cpb1	T	A	3: 20,316,638 (GRCm39)	Y304F	probably damaging	Het
Dnajc14	T	G	10: 128,642,766 (GRCm39)	S229R	possibly damaging	Het
Dnajc15	A	G	14: 78,081,839 (GRCm39)	V101A	possibly damaging	Het
Dpyd	A	T	3: 119,108,447 (GRCm39)	Y830F	possibly damaging	Het
Ehbp1l1	A	G	19: 5,769,278 (GRCm39)	V675A	probably benign	Het
F10	G	A	8: 13,105,638 (GRCm39)	C413Y	probably damaging	Het
Fam47e	C	T	5: 92,735,384 (GRCm39)	L206F	probably damaging	Het
Fpr1	A	T	17: 18,098,006 (GRCm39)		probably benign	Het
Frem2	G	C	3: 53,560,204 (GRCm39)	S1434R	probably damaging	Het
Gli3	G	T	13: 15,899,675 (GRCm39)	V1021F	probably damaging	Het
Gm7168	A	T	17: 14,169,488 (GRCm39)	N285I	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Herc1	T	A	9: 66,325,691 (GRCm39)	C1388*	probably null	Het
Hikeshi	T	C	7: 89,579,776 (GRCm39)		probably benign	Het
Hjv	T	A	3: 96,435,579 (GRCm39)	I279N	probably damaging	Het
Igfn1	T	C	1: 135,907,694 (GRCm39)	E217G	probably benign	Het
Ighv1-59	T	C	12: 115,298,737 (GRCm39)	T106A	probably benign	Het
Igkv6-23	T	A	6: 70,237,457 (GRCm39)	I95F	probably damaging	Het
Il31ra	A	T	13: 112,668,202 (GRCm39)	S456T	probably damaging	Het
Ints3	T	C	3: 90,308,468 (GRCm39)	D610G	probably damaging	Het
Iqcg	G	A	16: 32,855,973 (GRCm39)	Q201*	probably null	Het
Kat14	T	A	2: 144,235,441 (GRCm39)	D300E	probably benign	Het
Kbtbd13	T	C	9: 65,298,852 (GRCm39)	H28R	possibly damaging	Het
Kcnh2	A	T	5: 24,528,069 (GRCm39)	D866E	probably damaging	Het
Kdm4b	A	G	17: 56,701,775 (GRCm39)	T595A	probably benign	Het
Lct	C	T	1: 128,227,704 (GRCm39)	W1263*	probably null	Het
Micall2	T	A	5: 139,695,453 (GRCm39)	M905L	unknown	Het
Mkrn1	T	C	6: 39,382,530 (GRCm39)		probably benign	Het
Mobp	A	G	9: 119,997,572 (GRCm39)	T164A	unknown	Het
Mtrr	T	C	13: 68,728,674 (GRCm39)	E42G	possibly damaging	Het
Muc5b	T	A	7: 141,405,255 (GRCm39)	W888R	unknown	Het
Myh7	G	A	14: 55,224,842 (GRCm39)	A575V	probably damaging	Het
Nbea	A	C	3: 55,891,233 (GRCm39)	L1612W	possibly damaging	Het
Notch3	A	G	17: 32,362,216 (GRCm39)		probably null	Het
Nsun4	T	C	4: 115,902,007 (GRCm39)	Y153C	probably damaging	Het
Nup210	A	G	6: 91,039,785 (GRCm39)	I690T	probably benign	Het
Nyap2	T	A	1: 81,064,835 (GRCm39)		probably benign	Het
Oaz1	T	A	10: 80,662,603 (GRCm39)	S4T	possibly damaging	Het
Optn	C	T	2: 5,045,076 (GRCm39)	C222Y	probably benign	Het
Or11i1	A	G	3: 106,729,510 (GRCm39)	S122P	probably damaging	Het
Or4f17-ps1	T	A	2: 111,358,271 (GRCm39)	V222E		Het
Or5ac19	T	C	16: 59,089,677 (GRCm39)	M118V	probably damaging	Het
Or6c76b	G	A	10: 129,692,458 (GRCm39)	V24M	probably benign	Het
Or7a40	A	T	16: 16,491,337 (GRCm39)	C169*	probably null	Het
Osmr	T	A	15: 6,882,033 (GRCm39)	H37L	probably benign	Het
Pccb	G	T	9: 100,877,643 (GRCm39)	P287Q	probably benign	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Pdcd6ip	A	T	9: 113,526,572 (GRCm39)		probably null	Het
Pde9a	T	C	17: 31,678,137 (GRCm39)		probably null	Het
Pdk2	C	A	11: 94,930,260 (GRCm39)	V59F	probably damaging	Het
Pgm1	T	A	4: 99,827,186 (GRCm39)	V362E	probably damaging	Het
Pmepa1	CCGGCGGCGGCGGCGGCGG	CCGGCGGCGGCGGCGG	2: 173,117,943 (GRCm39)		probably benign	Het
Pold4	T	C	19: 4,282,904 (GRCm39)	F97S	possibly damaging	Het
Ppp5c	C	T	7: 16,740,886 (GRCm39)	V361I	probably benign	Het
Prrt1	A	G	17: 34,850,120 (GRCm39)	Y178C	probably damaging	Het
Psmb11	A	T	14: 54,863,033 (GRCm39)	I84F	probably damaging	Het
Smg7	A	G	1: 152,737,549 (GRCm39)	S131P	probably damaging	Het
Snrnp200	T	A	2: 127,078,428 (GRCm39)	L1728Q	probably damaging	Het
Stbd1	A	T	5: 92,753,456 (GRCm39)	E315D	probably damaging	Het
Tcaf1	C	T	6: 42,663,554 (GRCm39)	G109R	possibly damaging	Het
Thap12	C	T	7: 98,356,280 (GRCm39)	R56*	probably null	Het
Ttn	T	C	2: 76,645,919 (GRCm39)	E12848G	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Uqcrfs1	G	A	13: 30,725,108 (GRCm39)	A144V	probably damaging	Het
Usp13	T	A	3: 32,955,909 (GRCm39)		probably benign	Het
Wdr19	T	A	5: 65,363,789 (GRCm39)	D67E	possibly damaging	Het
Zfp998	A	T	13: 66,579,375 (GRCm39)	H369Q	unknown	Het
Zkscan3	A	T	13: 21,578,210 (GRCm39)	W226R	probably damaging	Het
Zmym5	A	C	14: 57,041,641 (GRCm39)	F154C	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
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

Predicted Primers

PCR Primer
(F):5'- CGTAGTCCATGTAAGGGGTC -3'
(R):5'- CTCATCAAGGAGATTGTGCGC -3'

Sequencing Primer
(F):5'- CCATGTAAGGGGTCTCGACACTATTG -3'
(R):5'- AGATTGTGCGCCGTAACATC -3'

Posted On

2022-03-25