Mutagenetix > Incidental Mutation

Incidental Mutation 'R8082:Calcrl'

629391

Institutional Source

Beutler Lab

Gene Symbol

Calcrl

Ensembl Gene

ENSMUSG00000059588

Gene Name

calcitonin receptor-like

Synonyms

CRLR

MMRRC Submission

067515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8082 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84160970-84255755 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84200786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 86 (Y86C)

Ref Sequence

ENSEMBL: ENSMUSP00000073875 (fasta)

Gene Model

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

AlphaFold

Q9R1W5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074262
AA Change: Y86C

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: Y86C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099944
AA Change: Y86C

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: Y86C

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: 99.9%
3x: 99.7%
10x: 98.8%
20x: 94.6%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,188,895 (GRCm39)		probably null	Het
4921524J17Rik	G	A	8: 86,136,468 (GRCm39)	A133V	possibly damaging	Het
AAdacl4fm3	A	C	4: 144,441,897 (GRCm39)	F118C	probably damaging	Het
Amd1	A	G	10: 40,166,508 (GRCm39)	F123L	probably benign	Het
Ankrd34c	C	A	9: 89,610,768 (GRCm39)	K524N	probably damaging	Het
Bicd2	C	T	13: 49,532,529 (GRCm39)	Q372*	probably null	Het
Cadps2	T	A	6: 23,323,313 (GRCm39)	M1002L	probably damaging	Het
Ccdc141	T	C	2: 76,954,588 (GRCm39)	I220V	probably damaging	Het
Cep152	T	C	2: 125,428,313 (GRCm39)	T773A	probably benign	Het
Cgn	A	G	3: 94,670,368 (GRCm39)	F1029L	probably benign	Het
Cntnap5b	T	A	1: 100,306,941 (GRCm39)	M515K	probably benign	Het
Col6a6	T	A	9: 105,661,129 (GRCm39)	K327*	probably null	Het
Cspg4	A	G	9: 56,793,177 (GRCm39)	Y304C	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dync2i1	T	A	12: 116,177,127 (GRCm39)		probably null	Het
Ecpas	G	A	4: 58,807,852 (GRCm39)	A1672V	probably benign	Het
Emilin3	A	C	2: 160,750,066 (GRCm39)	V561G	probably damaging	Het
Fam3c	T	A	6: 22,343,303 (GRCm39)	D12V	unknown	Het
Fam83f	T	C	15: 80,574,119 (GRCm39)	V158A	probably damaging	Het
Fgfbp1	T	C	5: 44,136,621 (GRCm39)	R224G	probably damaging	Het
Gid4	A	G	11: 60,327,273 (GRCm39)	K153E	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hic2	A	G	16: 17,076,563 (GRCm39)	H464R	probably damaging	Het
Ilvbl	C	T	10: 78,419,987 (GRCm39)	R602C	probably damaging	Het
Ints15	T	C	5: 143,297,607 (GRCm39)	R147G	probably benign	Het
Izumo1r	T	A	9: 14,805,373 (GRCm39)	D171V	unknown	Het
Kel	T	A	6: 41,680,424 (GRCm39)	E12V	possibly damaging	Het
Klf15	T	C	6: 90,443,466 (GRCm39)	S14P	possibly damaging	Het
Lars1	T	A	18: 42,377,975 (GRCm39)	S147C	probably damaging	Het
Lgals1	C	T	15: 78,814,301 (GRCm39)	A122V	probably benign	Het
Lgsn	C	T	1: 31,243,273 (GRCm39)	H452Y	probably benign	Het
Lrrc37a	T	A	11: 103,348,248 (GRCm39)	I2816F	unknown	Het
Mcoln1	T	A	8: 3,557,420 (GRCm39)	I142K	probably benign	Het
Met	G	A	6: 17,492,312 (GRCm39)	R358Q	probably damaging	Het
Mink1	T	A	11: 70,504,103 (GRCm39)	C1276S	possibly damaging	Het
Mrc1	T	C	2: 14,253,771 (GRCm39)	M264T	probably benign	Het
Mtfr2	C	T	10: 20,229,135 (GRCm39)	T81M	probably benign	Het
Myo5c	G	A	9: 75,182,793 (GRCm39)	A811T	possibly damaging	Het
Naip6	C	A	13: 100,436,909 (GRCm39)	S538I	probably benign	Het
Naip6	T	C	13: 100,436,961 (GRCm39)	T521A	probably benign	Het
Ndufs3	T	C	2: 90,725,208 (GRCm39)	D213G	probably damaging	Het
Or51k1	T	A	7: 103,661,897 (GRCm39)	E4V	probably benign	Het
Or5ac20	T	C	16: 59,104,750 (GRCm39)	T37A	possibly damaging	Het
Or5g9	T	C	2: 85,551,824 (GRCm39)	V25A	probably benign	Het
Or9g8	T	A	2: 85,607,044 (GRCm39)	L39I	probably benign	Het
Otog	C	T	7: 45,939,143 (GRCm39)	R2058C	probably damaging	Het
Pcdh10	A	T	3: 45,336,179 (GRCm39)	K831M	probably damaging	Het
Polr1b	A	G	2: 128,957,652 (GRCm39)	D569G	probably benign	Het
Polr3b	T	C	10: 84,491,927 (GRCm39)	L362P	probably damaging	Het
Rims2	G	T	15: 39,339,919 (GRCm39)	R871L	probably benign	Het
Shprh	T	A	10: 11,027,555 (GRCm39)	I54N	probably benign	Het
Sipa1l2	T	C	8: 126,218,548 (GRCm39)	D263G	possibly damaging	Het
Slc43a1	C	T	2: 84,687,244 (GRCm39)	R382C	probably benign	Het
Sorbs1	T	C	19: 40,353,527 (GRCm39)	R193G	probably benign	Het
Spata31e5	T	A	1: 28,816,579 (GRCm39)	K484N	probably benign	Het
Sry	T	A	Y: 2,662,589 (GRCm39)	Q357L	unknown	Het
Taar8b	T	A	10: 23,967,789 (GRCm39)	D135V	possibly damaging	Het
Tekt3	T	G	11: 62,961,056 (GRCm39)	V75G	probably benign	Het
Tm7sf2	A	G	19: 6,116,351 (GRCm39)	L198P	probably damaging	Het
Tuba1a	C	T	15: 98,848,742 (GRCm39)	V177I	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
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
R8753:Calcrl	UTSW	2	84,178,659 (GRCm39)	missense	probably benign	0.11
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'- TTGGTCACAGATCTTTGTAACCTTC -3'
(R):5'- TCCAGCAAGGCACTGAGAAG -3'

Sequencing Primer
(F):5'- ACTGCAATCTTTTGAGGCTATTTTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2020-06-30