Mutagenetix > Incidental Mutation

Incidental Mutation 'R2152:Calcr'

234374

Institutional Source

Beutler Lab

Gene Symbol

Calcr

Ensembl Gene

ENSMUSG00000023964

Gene Name

calcitonin receptor

Synonyms

Clr

MMRRC Submission

040155-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2152 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3685680-3764714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3687615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 424 (T424K)

Ref Sequence

ENSEMBL: ENSMUSP00000130083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075644] [ENSMUST00000115622] [ENSMUST00000168592] [ENSMUST00000170266] [ENSMUST00000171613]

AlphaFold

Q60755

Predicted Effect

probably benign
Transcript: ENSMUST00000075644
AA Change: T461K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075070
Gene: ENSMUSG00000023964
AA Change: T461K

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
HormR	85	160	4.33e-32	SMART
Pfam:7tm_2	162	441	5.2e-85	PFAM
Pfam:Dicty_CAR	259	410	5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115622
AA Change: T424K

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000111285
Gene: ENSMUSG00000023964
AA Change: T424K

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
HormR	85	160	4.33e-32	SMART
Pfam:7tm_2	162	404	1.1e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168592
AA Change: T424K

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000130243
Gene: ENSMUSG00000023964
AA Change: T424K

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
HormR	85	160	4.33e-32	SMART
Pfam:7tm_2	162	404	1.1e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170266
AA Change: T461K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132124
Gene: ENSMUSG00000023964
AA Change: T461K

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
HormR	85	160	4.33e-32	SMART
Pfam:7tm_2	162	441	2.2e-84	PFAM
Pfam:Dicty_CAR	257	399	2.5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171613
AA Change: T424K

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000130083
Gene: ENSMUSG00000023964
AA Change: T424K

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
HormR	85	160	4.33e-32	SMART
Pfam:7tm_2	162	404	1.1e-85	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Haploinsufficiency may result in increased bone density due to increased bone formation. Homozygous inactivation may result in embryonic lethality. Mice homozygous for another disruption allele at this locus show a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	A	T	1: 90,141,565 (GRCm39)	Y8F	probably benign	Het
Acy1	T	C	9: 106,312,816 (GRCm39)	E175G	probably damaging	Het
Add2	T	C	6: 86,075,580 (GRCm39)	L243P	probably damaging	Het
Adsl	A	G	15: 80,851,863 (GRCm39)	D407G	probably damaging	Het
Afg3l1	T	G	8: 124,221,575 (GRCm39)	I478S	probably damaging	Het
Aoc1l1	T	A	6: 48,953,473 (GRCm39)	I466N	probably damaging	Het
Arfrp1	T	C	2: 181,001,487 (GRCm39)	T108A	probably benign	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Asap2	A	T	12: 21,162,084 (GRCm39)	T14S	probably damaging	Het
Atp2c2	A	G	8: 120,482,841 (GRCm39)	N901S	probably benign	Het
Bbs12	G	T	3: 37,375,309 (GRCm39)	E586*	probably null	Het
Bicd2	G	T	13: 49,533,052 (GRCm39)	C546F	probably damaging	Het
Bid	A	T	6: 120,877,215 (GRCm39)	L42Q	probably damaging	Het
Bpifb9a	A	G	2: 154,102,055 (GRCm39)	K51E	probably benign	Het
Cd46	A	G	1: 194,744,721 (GRCm39)	I339T	probably benign	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cntn3	A	G	6: 102,183,498 (GRCm39)	I719T	probably damaging	Het
Cyb5r1	T	C	1: 134,337,363 (GRCm39)	I163T	possibly damaging	Het
Cyp2d26	A	T	15: 82,676,907 (GRCm39)		probably null	Het
Dclk1	A	G	3: 55,154,633 (GRCm39)	Y21C	probably damaging	Het
Dgcr2	G	A	16: 17,709,351 (GRCm39)		probably null	Het
Dhx38	T	C	8: 110,287,306 (GRCm39)	S221G	probably benign	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dnah3	C	T	7: 119,551,236 (GRCm39)	V3028I	probably benign	Het
Dnah6	T	C	6: 73,026,149 (GRCm39)	Y3448C	probably benign	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Epb41l1	A	G	2: 156,356,048 (GRCm39)	D528G	probably damaging	Het
Fat4	A	T	3: 39,037,544 (GRCm39)	Y3732F	probably damaging	Het
Fcsk	T	A	8: 111,615,704 (GRCm39)	T542S	probably benign	Het
Fgfr4	A	T	13: 55,314,777 (GRCm39)	Y640F	probably damaging	Het
Foxo6	T	A	4: 120,125,811 (GRCm39)	D328V	probably benign	Het
Foxp1	A	G	6: 98,993,502 (GRCm39)	L134P	probably damaging	Het
Frem2	G	A	3: 53,424,450 (GRCm39)	R2996*	probably null	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gcn1	T	A	5: 115,747,888 (GRCm39)	I1765N	probably benign	Het
Gm4787	T	A	12: 81,423,993 (GRCm39)	I722F	probably benign	Het
Gpc6	G	T	14: 117,163,504 (GRCm39)	A53S	probably benign	Het
Gtpbp8	A	G	16: 44,560,390 (GRCm39)		probably null	Het
H2-Q2	T	C	17: 35,564,252 (GRCm39)		probably null	Het
Hapln2	C	A	3: 87,930,920 (GRCm39)	R157L	probably benign	Het
Hemgn	C	A	4: 46,396,607 (GRCm39)	E210*	probably null	Het
Hpse	T	A	5: 100,839,269 (GRCm39)	K360*	probably null	Het
Iqcj	A	T	3: 67,962,643 (GRCm39)	E68V	probably damaging	Het
Kat2a	T	C	11: 100,603,172 (GRCm39)		probably benign	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,278,861 (GRCm39)	I371F	probably damaging	Het
Klhl30	C	A	1: 91,285,546 (GRCm39)	A356D	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Micu1	G	T	10: 59,699,110 (GRCm39)	M468I	probably benign	Het
Mrc1	A	G	2: 14,332,675 (GRCm39)	T1292A	probably damaging	Het
Myh8	G	A	11: 67,185,295 (GRCm39)	E849K	probably damaging	Het
Myom3	G	T	4: 135,530,544 (GRCm39)	R1152L	probably benign	Het
Nedd4l	T	A	18: 65,343,401 (GRCm39)	H820Q	probably damaging	Het
Nlrp4g	T	A	9: 124,353,339 (GRCm38)		noncoding transcript	Het
Oga	A	T	19: 45,746,461 (GRCm39)	Y779*	probably null	Het
Or13p5	C	T	4: 118,592,446 (GRCm39)	A240V	possibly damaging	Het
Or1m1	T	C	9: 18,666,391 (GRCm39)	D180G	probably damaging	Het
Or2a51	A	G	6: 43,179,003 (GRCm39)	I142V	probably benign	Het
Or51a39	G	T	7: 102,362,788 (GRCm39)	H277Q	probably benign	Het
Or52j3	A	T	7: 102,835,847 (GRCm39)	D13V	probably benign	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Or8g54	A	T	9: 39,706,943 (GRCm39)	I91F	probably benign	Het
Or9s23	T	C	1: 92,501,630 (GRCm39)	S246P	probably damaging	Het
Otop1	T	A	5: 38,460,194 (GRCm39)	M587K	probably damaging	Het
Pgm5	T	A	19: 24,812,179 (GRCm39)	I118F	probably damaging	Het
Phc2	A	G	4: 128,638,859 (GRCm39)	*41W	probably null	Het
Phf8-ps	T	A	17: 33,285,908 (GRCm39)	D298V	probably damaging	Het
Piezo2	A	T	18: 63,247,112 (GRCm39)	M532K	probably damaging	Het
Pjvk	A	T	2: 76,488,713 (GRCm39)	I295F	probably benign	Het
Popdc2	A	G	16: 38,183,482 (GRCm39)	N155S	possibly damaging	Het
Ppp4r3a	G	T	12: 101,008,826 (GRCm39)	N684K	probably damaging	Het
Prpf4b	T	A	13: 35,084,402 (GRCm39)	M930K	probably benign	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Ptprz1	C	A	6: 23,030,670 (GRCm39)	L1010I	probably damaging	Het
Rabepk	A	T	2: 34,674,562 (GRCm39)	D232E	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Rb1	T	C	14: 73,526,165 (GRCm39)	T169A	probably benign	Het
Rcc2	T	C	4: 140,444,428 (GRCm39)	L373P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rrbp1	A	G	2: 143,796,118 (GRCm39)	L1200P	possibly damaging	Het
Sdk1	A	G	5: 141,778,699 (GRCm39)	N226D	probably damaging	Het
Selenbp1	G	A	3: 94,851,441 (GRCm39)	R398H	probably damaging	Het
Selenoo	A	G	15: 88,983,485 (GRCm39)	M509V	probably benign	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc2a5	T	G	4: 150,210,095 (GRCm39)	S27A	probably damaging	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slc5a9	A	G	4: 111,750,420 (GRCm39)	I146T	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Snx29	A	G	16: 11,218,707 (GRCm39)	D181G	possibly damaging	Het
Spata31d1c	G	A	13: 65,181,779 (GRCm39)		probably null	Het
Stat5a	C	A	11: 100,764,916 (GRCm39)	T213N	probably benign	Het
Stt3a	A	T	9: 36,659,292 (GRCm39)	V349D	probably damaging	Het
Tcf20	A	T	15: 82,739,803 (GRCm39)	D549E	probably damaging	Het
Thbs2	T	A	17: 14,893,471 (GRCm39)	D903V	probably damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tmc1	A	T	19: 20,834,039 (GRCm39)	N241K	probably benign	Het
Tmem260	G	T	14: 48,715,066 (GRCm39)	R240L	possibly damaging	Het
Tnfaip6	A	T	2: 51,933,742 (GRCm39)	E32D	probably damaging	Het
Trpa1	A	T	1: 14,969,625 (GRCm39)	H381Q	probably damaging	Het
Tsen2	T	C	6: 115,524,936 (GRCm39)	I45T	possibly damaging	Het
Ttc6	G	A	12: 57,752,338 (GRCm39)	V1415I	probably damaging	Het
Ttll7	G	T	3: 146,635,944 (GRCm39)	R426L	probably damaging	Het
Ttn	A	C	2: 76,570,482 (GRCm39)	S26804A	probably damaging	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn2r73	A	G	7: 85,506,936 (GRCm39)	V792A	probably benign	Het
Zfp345	T	C	2: 150,314,578 (GRCm39)	T320A	probably benign	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	possibly damaging	Het

Other mutations in Calcr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Calcr	APN	6	3,717,196 (GRCm39)	missense	probably damaging	1.00
IGL01146:Calcr	APN	6	3,700,144 (GRCm39)	missense	possibly damaging	0.88
IGL02253:Calcr	APN	6	3,707,523 (GRCm39)	missense	probably benign	0.12
IGL02567:Calcr	APN	6	3,691,564 (GRCm39)	missense	probably damaging	1.00
IGL02729:Calcr	APN	6	3,707,595 (GRCm39)	missense	probably benign
IGL03062:Calcr	APN	6	3,693,718 (GRCm39)	missense	probably benign	0.08
R0111:Calcr	UTSW	6	3,717,157 (GRCm39)	missense	probably damaging	1.00
R0561:Calcr	UTSW	6	3,692,630 (GRCm39)	missense	probably damaging	0.99
R1013:Calcr	UTSW	6	3,692,621 (GRCm39)	missense	probably damaging	1.00
R1628:Calcr	UTSW	6	3,700,251 (GRCm39)	missense	possibly damaging	0.53
R2206:Calcr	UTSW	6	3,717,133 (GRCm39)	missense	probably damaging	0.98
R2207:Calcr	UTSW	6	3,717,133 (GRCm39)	missense	probably damaging	0.98
R3403:Calcr	UTSW	6	3,687,604 (GRCm39)	missense	probably benign	0.04
R3781:Calcr	UTSW	6	3,700,193 (GRCm39)	missense	possibly damaging	0.93
R3782:Calcr	UTSW	6	3,700,193 (GRCm39)	missense	possibly damaging	0.93
R3851:Calcr	UTSW	6	3,693,735 (GRCm39)	missense	probably damaging	1.00
R3852:Calcr	UTSW	6	3,693,735 (GRCm39)	missense	probably damaging	1.00
R4190:Calcr	UTSW	6	3,717,106 (GRCm39)	missense	possibly damaging	0.82
R4387:Calcr	UTSW	6	3,707,581 (GRCm39)	missense	probably damaging	0.98
R4402:Calcr	UTSW	6	3,708,484 (GRCm39)	critical splice donor site	probably null
R4403:Calcr	UTSW	6	3,708,484 (GRCm39)	critical splice donor site	probably null
R4494:Calcr	UTSW	6	3,708,484 (GRCm39)	critical splice donor site	probably null
R4495:Calcr	UTSW	6	3,708,484 (GRCm39)	critical splice donor site	probably null
R4745:Calcr	UTSW	6	3,692,576 (GRCm39)	missense	probably damaging	0.99
R4857:Calcr	UTSW	6	3,708,511 (GRCm39)	missense	probably benign	0.29
R4883:Calcr	UTSW	6	3,714,705 (GRCm39)	missense	probably damaging	1.00
R5168:Calcr	UTSW	6	3,708,610 (GRCm39)	missense	probably benign	0.00
R5375:Calcr	UTSW	6	3,714,651 (GRCm39)	missense	probably benign	0.00
R5643:Calcr	UTSW	6	3,708,538 (GRCm39)	missense	probably damaging	1.00
R5644:Calcr	UTSW	6	3,708,538 (GRCm39)	missense	probably damaging	1.00
R5688:Calcr	UTSW	6	3,714,730 (GRCm39)	splice site	probably null
R5799:Calcr	UTSW	6	3,707,592 (GRCm39)	missense	probably benign	0.13
R5920:Calcr	UTSW	6	3,722,994 (GRCm39)	missense	probably damaging	0.97
R6249:Calcr	UTSW	6	3,692,711 (GRCm39)	missense	possibly damaging	0.49
R6329:Calcr	UTSW	6	3,687,621 (GRCm39)	missense	probably damaging	1.00
R6357:Calcr	UTSW	6	3,714,710 (GRCm39)	missense	probably benign	0.00
R6365:Calcr	UTSW	6	3,711,455 (GRCm39)	missense	probably benign	0.00
R6393:Calcr	UTSW	6	3,708,586 (GRCm39)	missense	probably damaging	1.00
R6547:Calcr	UTSW	6	3,717,177 (GRCm39)	missense	probably damaging	1.00
R7034:Calcr	UTSW	6	3,692,543 (GRCm39)	missense	probably damaging	1.00
R7208:Calcr	UTSW	6	3,687,612 (GRCm39)	missense	probably benign	0.00
R7342:Calcr	UTSW	6	3,691,536 (GRCm39)	missense	probably benign	0.03
R7430:Calcr	UTSW	6	3,708,586 (GRCm39)	missense	probably damaging	1.00
R7601:Calcr	UTSW	6	3,687,603 (GRCm39)	missense	probably benign	0.05
R7853:Calcr	UTSW	6	3,707,499 (GRCm39)	missense	probably benign
R8084:Calcr	UTSW	6	3,687,615 (GRCm39)	missense	probably benign	0.00
R8181:Calcr	UTSW	6	3,693,899 (GRCm39)	missense	probably benign	0.16
R8559:Calcr	UTSW	6	3,692,603 (GRCm39)	missense	probably damaging	1.00
R8726:Calcr	UTSW	6	3,707,489 (GRCm39)	intron	probably benign
R9183:Calcr	UTSW	6	3,711,463 (GRCm39)	missense	probably damaging	1.00
R9356:Calcr	UTSW	6	3,687,408 (GRCm39)	missense	probably benign	0.41
R9716:Calcr	UTSW	6	3,687,468 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TGGCTTCACATTCAAGCGG -3'
(R):5'- TGCCTCAGTATAAACTCGGTTC -3'

Sequencing Primer
(F):5'- ACGTTCATGGGGATCATTTCAGTAC -3'
(R):5'- ACTCGGTTCTTAGATCAGATCTAC -3'

Posted On

2014-10-01