Mutagenetix > Incidental Mutation

Incidental Mutation 'R8753:Calcrl'

663955

Institutional Source

Beutler Lab

Gene Symbol

Calcrl

Ensembl Gene

ENSMUSG00000059588

Gene Name

calcitonin receptor-like

Synonyms

CRLR

MMRRC Submission

068619-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8753 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84160970-84255755 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 84178659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 223 (G223A)

Ref Sequence

ENSEMBL: ENSMUSP00000073875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074262] [ENSMUST00000099944]

AlphaFold

Q9R1W5

Predicted Effect

probably benign
Transcript: ENSMUST00000074262
AA Change: G223A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: G223A

Domain	Start	End	E-Value	Type
HormR	60	135	1.4e-26	SMART
Pfam:7tm_2	137	379	5.7e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099944
AA Change: G223A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: G223A

Domain	Start	End	E-Value	Type
HormR	60	135	1.4e-26	SMART
Pfam:7tm_2	137	379	3.2e-80	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (59/62)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in lethality between E13.5-E14.5, hydrops fetalis and cardiovascular defects such as thin vascular smooth muscle walls and small, disorganized hearts resulting from a decrease in cell proliferation and an increasein apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,332,706 (GRCm39)	Y1496H	probably damaging	Het
Acan	G	A	7: 78,748,516 (GRCm39)	E1096K	possibly damaging	Het
Adprhl1	T	C	8: 13,272,118 (GRCm39)	K1547E	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Arf4	T	A	14: 26,374,114 (GRCm39)		probably benign	Het
Boc	A	T	16: 44,320,775 (GRCm39)	M295K		Het
C2cd3	T	A	7: 100,049,024 (GRCm39)		probably null	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Ccz1	A	G	5: 143,925,050 (GRCm39)	C469R	probably benign	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Clpx	G	A	9: 65,223,958 (GRCm39)	G251S	probably damaging	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Cpox	T	A	16: 58,498,391 (GRCm39)	M408K	probably damaging	Het
Crybb3	A	G	5: 113,226,247 (GRCm39)		probably null	Het
Cubn	A	T	2: 13,313,377 (GRCm39)	C3064*	probably null	Het
Cxcl3	CCTGCTGCTGCTGCTG	CCTGCTGCTGCTG	5: 90,934,071 (GRCm39)		probably benign	Het
Cyp4a31	A	T	4: 115,432,158 (GRCm39)	S432C	probably benign	Het
Ddias	A	T	7: 92,508,668 (GRCm39)	F416I	probably damaging	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dnttip2	A	G	3: 122,074,398 (GRCm39)	T612A	probably damaging	Het
Fnip1	A	G	11: 54,400,867 (GRCm39)	T1089A	probably damaging	Het
Gm12117	A	T	11: 33,225,953 (GRCm39)	L128M	probably benign	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Ibtk	T	C	9: 85,610,819 (GRCm39)	T285A	probably benign	Het
Ifi206	A	T	1: 173,301,223 (GRCm39)	N818K	unknown	Het
Itga10	T	G	3: 96,558,471 (GRCm39)	L305R	probably damaging	Het
Khnyn	T	C	14: 56,125,223 (GRCm39)	Y461H	possibly damaging	Het
Macroh2a2	T	C	10: 61,585,113 (GRCm39)	D177G	possibly damaging	Het
Mbtps1	T	C	8: 120,235,601 (GRCm39)	S1026G	possibly damaging	Het
Msantd4	A	G	9: 4,385,013 (GRCm39)	E246G	probably damaging	Het
N4bp1	T	C	8: 87,575,085 (GRCm39)	I737V	probably damaging	Het
Nav2	T	G	7: 49,102,320 (GRCm39)	S373A	probably benign	Het
Nbea	T	C	3: 55,534,329 (GRCm39)	Y2936C	probably damaging	Het
Nbeal1	A	T	1: 60,307,542 (GRCm39)	I1685F	probably damaging	Het
Nt5c3	C	G	6: 56,860,677 (GRCm39)	G293R	probably damaging	Het
Or4f14c	A	T	2: 111,940,802 (GRCm39)	V265E	probably benign	Het
Or52z1	T	A	7: 103,436,567 (GRCm39)	I306F	probably benign	Het
Pcnx2	A	T	8: 126,613,999 (GRCm39)	V484E	probably benign	Het
Pcsk5	C	T	19: 17,446,408 (GRCm39)	R1195Q	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pitpnm3	A	G	11: 71,942,704 (GRCm39)	V861A	probably benign	Het
Pkd1	A	G	17: 24,793,176 (GRCm39)	Y1621C	probably damaging	Het
Polr3a	C	A	14: 24,513,702 (GRCm39)	E846*	probably null	Het
Polr3e	T	C	7: 120,539,540 (GRCm39)	V455A	possibly damaging	Het
Prr5l	C	T	2: 101,571,723 (GRCm39)	G118D	probably damaging	Het
Pygl	G	T	12: 70,242,400 (GRCm39)	N685K	probably damaging	Het
Rfx8	A	G	1: 39,757,600 (GRCm39)	V56A	probably damaging	Het
Sbf1	T	C	15: 89,179,662 (GRCm39)	D1341G	probably benign	Het
Selenon	T	C	4: 134,275,330 (GRCm39)	T123A	probably benign	Het
Slc23a1	T	G	18: 35,752,631 (GRCm39)	K549Q	probably benign	Het
Slc7a13	T	C	4: 19,841,443 (GRCm39)	F430S	probably damaging	Het
Smarcc2	G	A	10: 128,319,070 (GRCm39)	V707M	probably damaging	Het
St18	A	G	1: 6,916,015 (GRCm39)	S887G	probably damaging	Het
T2	T	C	17: 8,615,477 (GRCm39)		probably benign	Het
Tbc1d16	A	G	11: 119,101,492 (GRCm39)	L6P	probably damaging	Het
Tcf7l2	T	C	19: 55,920,195 (GRCm39)	L576P	possibly damaging	Het
Tnr	A	G	1: 159,677,936 (GRCm39)	D107G	probably benign	Het
Trpv1	G	T	11: 73,135,082 (GRCm39)	K426N	probably damaging	Het
Vmn1r15	A	T	6: 57,235,895 (GRCm39)	L254F	probably benign	Het
Vmn1r219	A	T	13: 23,347,191 (GRCm39)	I127F	probably damaging	Het
Zc3h14	A	T	12: 98,724,831 (GRCm39)	E164D	probably benign	Het

Other mutations in Calcrl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Calcrl	APN	2	84,200,798 (GRCm39)	missense	probably benign	0.05
IGL01395:Calcrl	APN	2	84,198,919 (GRCm39)	missense	probably benign	0.25
IGL01672:Calcrl	APN	2	84,175,414 (GRCm39)	missense	probably damaging	1.00
IGL01738:Calcrl	APN	2	84,200,793 (GRCm39)	missense	probably benign	0.00
IGL01773:Calcrl	APN	2	84,200,787 (GRCm39)	missense	probably benign
IGL02007:Calcrl	APN	2	84,205,668 (GRCm39)	missense	probably benign
IGL02254:Calcrl	APN	2	84,178,552 (GRCm39)	missense	probably damaging	1.00
IGL02887:Calcrl	APN	2	84,169,586 (GRCm39)	missense	probably benign	0.04
R0008:Calcrl	UTSW	2	84,203,618 (GRCm39)	missense	probably benign	0.04
R0008:Calcrl	UTSW	2	84,203,618 (GRCm39)	missense	probably benign	0.04
R0485:Calcrl	UTSW	2	84,200,435 (GRCm39)	missense	probably benign	0.01
R1579:Calcrl	UTSW	2	84,163,881 (GRCm39)	missense	probably benign	0.00
R1640:Calcrl	UTSW	2	84,164,021 (GRCm39)	missense	probably damaging	0.98
R1694:Calcrl	UTSW	2	84,169,631 (GRCm39)	missense	probably damaging	1.00
R1731:Calcrl	UTSW	2	84,175,512 (GRCm39)	critical splice donor site	probably null
R1779:Calcrl	UTSW	2	84,181,629 (GRCm39)	missense	probably damaging	1.00
R1992:Calcrl	UTSW	2	84,200,855 (GRCm39)	missense	probably damaging	0.98
R2262:Calcrl	UTSW	2	84,175,517 (GRCm39)	missense	probably damaging	1.00
R2763:Calcrl	UTSW	2	84,200,847 (GRCm39)	missense	probably damaging	0.99
R3903:Calcrl	UTSW	2	84,198,986 (GRCm39)	splice site	probably benign
R4838:Calcrl	UTSW	2	84,181,549 (GRCm39)	missense	probably damaging	0.99
R4901:Calcrl	UTSW	2	84,163,857 (GRCm39)	missense	probably benign	0.00
R4997:Calcrl	UTSW	2	84,181,592 (GRCm39)	nonsense	probably null
R4998:Calcrl	UTSW	2	84,169,658 (GRCm39)	missense	probably damaging	1.00
R5791:Calcrl	UTSW	2	84,181,609 (GRCm39)	missense	probably damaging	1.00
R5887:Calcrl	UTSW	2	84,200,841 (GRCm39)	missense	probably damaging	1.00
R6046:Calcrl	UTSW	2	84,205,658 (GRCm39)	missense	probably benign	0.00
R6207:Calcrl	UTSW	2	84,163,874 (GRCm39)	missense	probably benign	0.00
R6959:Calcrl	UTSW	2	84,200,428 (GRCm39)	missense	possibly damaging	0.76
R6972:Calcrl	UTSW	2	84,198,922 (GRCm39)	missense	probably benign
R7522:Calcrl	UTSW	2	84,203,708 (GRCm39)	missense	probably benign
R7653:Calcrl	UTSW	2	84,175,529 (GRCm39)	nonsense	probably null
R7911:Calcrl	UTSW	2	84,181,575 (GRCm39)	missense	probably damaging	1.00
R8082:Calcrl	UTSW	2	84,200,786 (GRCm39)	missense	possibly damaging	0.56
R8110:Calcrl	UTSW	2	84,169,683 (GRCm39)	missense	probably damaging	1.00
R8152:Calcrl	UTSW	2	84,169,593 (GRCm39)	missense	possibly damaging	0.63
R8753:Calcrl	UTSW	2	84,178,661 (GRCm39)	missense	probably benign	0.02
R8903:Calcrl	UTSW	2	84,203,729 (GRCm39)	critical splice acceptor site	probably null
R9265:Calcrl	UTSW	2	84,200,400 (GRCm39)	missense	possibly damaging	0.93
R9276:Calcrl	UTSW	2	84,205,643 (GRCm39)	missense	probably benign
R9773:Calcrl	UTSW	2	84,200,462 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATAAGTCACGTGGCCTAAAAGC -3'
(R):5'- CTTGAGAACCACCATGGATGAG -3'

Sequencing Primer
(F):5'- AGCTAAAAAGCCGTCTTAATCAG -3'
(R):5'- ACCACCATGGATGAGTATGC -3'

Posted On

2021-03-08