Mutagenetix > Incidental Mutation

Incidental Mutation 'R7911:Calcrl'

610491

Institutional Source

Beutler Lab

Gene Symbol

Calcrl

Ensembl Gene

ENSMUSG00000059588

Gene Name

calcitonin receptor-like

Synonyms

CRLR

MMRRC Submission

045960-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84160970-84255755 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 84181575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 191 (I191S)

Ref Sequence

ENSEMBL: ENSMUSP00000073875 (fasta)

Gene Model

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

AlphaFold

Q9R1W5

Predicted Effect

probably damaging
Transcript: ENSMUST00000074262
AA Change: I191S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: I191S

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 damaging
Transcript: ENSMUST00000099944
AA Change: I191S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: I191S

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: 99.6%
20x: 98.9%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	T	C	5: 107,693,667 (GRCm39)	F95L	probably benign	Het
Abca3	C	G	17: 24,617,478 (GRCm39)	D1058E	probably damaging	Het
Abca7	C	A	10: 79,840,867 (GRCm39)	R919S	probably benign	Het
Abcc2	T	C	19: 43,792,109 (GRCm39)	S297P	probably benign	Het
Abcc8	A	G	7: 45,803,860 (GRCm39)	L438P	probably damaging	Het
Acbd6	C	A	1: 155,562,750 (GRCm39)	D250E	probably damaging	Het
Ankrd31	A	G	13: 97,015,608 (GRCm39)	N1626D	possibly damaging	Het
Arrdc4	C	T	7: 68,394,924 (GRCm39)	E112K	probably benign	Het
B3galnt1	T	A	3: 69,482,574 (GRCm39)	Y229F	probably damaging	Het
Camkmt	T	A	17: 85,759,866 (GRCm39)		probably null	Het
Card11	A	G	5: 140,867,755 (GRCm39)		probably null	Het
Cfap157	A	G	2: 32,668,219 (GRCm39)	L407P	probably damaging	Het
Cfap299	T	A	5: 98,885,567 (GRCm39)	M158K	possibly damaging	Het
Chst15	T	C	7: 131,872,251 (GRCm39)	Q10R	probably benign	Het
Ciao3	A	G	17: 25,999,372 (GRCm39)	E262G	probably benign	Het
Col26a1	A	G	5: 136,771,952 (GRCm39)	L424P	probably damaging	Het
Cryzl2	T	C	1: 157,299,925 (GRCm39)	M308T	probably benign	Het
Ctu2	T	C	8: 123,207,733 (GRCm39)	I403T	probably benign	Het
Ddhd2	A	G	8: 26,238,563 (GRCm39)		probably null	Het
Dmrt1	T	A	19: 25,580,692 (GRCm39)	L368Q	probably benign	Het
Dnah7b	C	A	1: 46,178,838 (GRCm39)	P837Q	probably damaging	Het
Drg2	T	A	11: 60,355,001 (GRCm39)	L283Q	possibly damaging	Het
Dscam	G	A	16: 96,445,122 (GRCm39)	T1523I	probably benign	Het
Farp1	T	C	14: 121,479,818 (GRCm39)	S370P	probably damaging	Het
Fbxl21	G	A	13: 56,684,976 (GRCm39)	G360D	probably damaging	Het
Fbxo39	T	C	11: 72,208,358 (GRCm39)	S237P	probably damaging	Het
Gart	G	T	16: 91,435,672 (GRCm39)	F180L	probably benign	Het
Gng4	T	C	13: 13,999,857 (GRCm39)	L42P	possibly damaging	Het
Heatr9	T	A	11: 83,403,234 (GRCm39)	D435V	probably damaging	Het
Hsh2d	A	G	8: 72,950,648 (GRCm39)	E45G	probably damaging	Het
Ighv1-74	A	G	12: 115,766,410 (GRCm39)	I70T	probably damaging	Het
Igkv1-133	T	A	6: 67,701,924 (GRCm39)	F9L	probably benign	Het
Ipo5	A	G	14: 121,167,051 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,067,774 (GRCm39)	V1578A	probably damaging	Het
Kcnj5	T	C	9: 32,233,517 (GRCm39)	D266G	probably damaging	Het
Klk1b9	A	T	7: 43,629,211 (GRCm39)	K206N	probably damaging	Het
Macir	T	A	1: 97,573,615 (GRCm39)	H150L	probably damaging	Het
Madd	C	T	2: 90,997,853 (GRCm39)	G725D	probably null	Het
Mki67	A	T	7: 135,306,333 (GRCm39)	H576Q	probably damaging	Het
Mprip	T	A	11: 59,651,681 (GRCm39)	I36N		Het
Mycbp2	T	G	14: 103,437,621 (GRCm39)	E2113D	probably damaging	Het
Noa1	T	C	5: 77,457,677 (GRCm39)	Y76C	probably damaging	Het
Noct	A	G	3: 51,155,069 (GRCm39)		probably benign	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Pcdhga6	C	T	18: 37,842,479 (GRCm39)	S733L	not run	Het
Pdlim7	T	C	13: 55,646,919 (GRCm39)	E389G	probably damaging	Het
Ppip5k1	A	G	2: 121,173,139 (GRCm39)	Y480H	possibly damaging	Het
Prc1	T	A	7: 79,954,120 (GRCm39)	D93E	probably benign	Het
Prdm15	A	G	16: 97,613,792 (GRCm39)	M459T	probably benign	Het
Ptpn13	G	A	5: 103,688,924 (GRCm39)	A906T	probably damaging	Het
Ptpn21	T	C	12: 98,655,101 (GRCm39)	E622G	probably damaging	Het
Pum1	T	C	4: 130,501,788 (GRCm39)	V1104A	probably benign	Het
Scn2a	G	A	2: 65,512,427 (GRCm39)	R188Q	probably null	Het
Sh3pxd2b	G	A	11: 32,321,533 (GRCm39)	V31I	probably damaging	Het
Skor1	T	C	9: 63,052,328 (GRCm39)	E547G	possibly damaging	Het
Slk	C	T	19: 47,603,668 (GRCm39)	T183I		Het
Sorcs1	C	A	19: 50,132,470 (GRCm39)	D1163Y	unknown	Het
Tex14	G	A	11: 87,424,428 (GRCm39)		probably null	Het
Them5	A	G	3: 94,253,496 (GRCm39)	T169A	possibly damaging	Het
Tlcd4	A	T	3: 121,022,041 (GRCm39)	I119K	probably damaging	Het
Trav5-4	T	C	14: 53,941,908 (GRCm39)	F94L	probably benign	Het
Trpc6	G	C	9: 8,656,705 (GRCm39)	G789R	probably benign	Het
Ttn	A	T	2: 76,537,095 (GRCm39)	C34944*	probably null	Het
Usp53	T	C	3: 122,754,916 (GRCm39)	M180V	probably benign	Het
Vwa3b	T	C	1: 37,193,107 (GRCm39)	S8P	probably damaging	Het
Wdr90	A	T	17: 26,069,723 (GRCm39)	M1205K	probably benign	Het
Zcwpw1	A	T	5: 137,795,032 (GRCm39)	E76V	probably null	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
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
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'- GCTATGTTTCCTGTATGTAAACCCC -3'
(R):5'- AAAGCAACTCATTTCCATCTGG -3'

Sequencing Primer
(F):5'- CCTACTAACCCTCAAAGGTA -3'
(R):5'- TTTCCAAAGTTAAAGCAACCTTTATG -3'

Posted On

2019-12-20