Mutagenetix > Incidental Mutation

Incidental Mutation 'R9276:Calcrl'

703270

Institutional Source

Beutler Lab

Gene Symbol

Calcrl

Ensembl Gene

ENSMUSG00000059588

Gene Name

calcitonin receptor-like

Synonyms

CRLR

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84160970-84255755 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84205643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 16 (N16S)

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: N16S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: N16S

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: N16S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: N16S

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (83/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	T	9: 101,819,887 (GRCm39)	R102S	probably benign	Het
Abitram	A	T	4: 56,806,141 (GRCm39)	K184N	probably benign	Het
Acvr2b	C	T	9: 119,231,616 (GRCm39)	T2M	probably benign	Het
Adamtsl3	A	G	7: 82,206,710 (GRCm39)		probably benign	Het
Adcy7	A	G	8: 89,052,014 (GRCm39)	Y894C	probably damaging	Het
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Amt	C	A	9: 108,178,410 (GRCm39)	T339K	probably benign	Het
Ankrd27	G	T	7: 35,319,995 (GRCm39)	V639L	probably benign	Het
Anxa10	G	T	8: 62,549,753 (GRCm39)	Q31K	probably damaging	Het
Ap1g2	T	C	14: 55,339,818 (GRCm39)	T454A	probably benign	Het
Boll	A	T	1: 55,399,812 (GRCm39)	I43N	possibly damaging	Het
Cacna1c	T	C	6: 118,601,394 (GRCm39)	D1472G		Het
Ccdc191	C	T	16: 43,764,041 (GRCm39)	Q501*	probably null	Het
Cchcr1	T	C	17: 35,841,105 (GRCm39)	L658P	probably damaging	Het
Cfap46	A	T	7: 139,201,207 (GRCm39)	C1919S	unknown	Het
Col6a3	G	A	1: 90,735,403 (GRCm39)	L1356F	possibly damaging	Het
Dlc1	A	G	8: 37,046,558 (GRCm39)	S680P	possibly damaging	Het
Dock4	T	G	12: 40,699,404 (GRCm39)	M206R	possibly damaging	Het
Eml5	T	C	12: 98,765,060 (GRCm39)	K1630E	probably damaging	Het
Fat1	A	G	8: 45,488,514 (GRCm39)	T3432A	probably damaging	Het
Fcrl5	G	T	3: 87,343,138 (GRCm39)		probably benign	Het
Fcrla	A	G	1: 170,755,135 (GRCm39)		probably benign	Het
Fut4	C	A	9: 14,662,572 (GRCm39)	D241Y	probably benign	Het
Fzd6	A	G	15: 38,870,962 (GRCm39)		probably benign	Het
Gjc2	T	C	11: 59,068,453 (GRCm39)	T10A	probably damaging	Het
Gle1	C	T	2: 29,829,514 (GRCm39)	H203Y	possibly damaging	Het
Gm5565	A	T	5: 146,096,917 (GRCm39)	I74N	probably damaging	Het
Gnl2	T	A	4: 124,947,250 (GRCm39)	I624K	possibly damaging	Het
Gnpat	C	A	8: 125,614,524 (GRCm39)	N653K	probably benign	Het
Gstcd	A	G	3: 132,777,665 (GRCm39)	L382S	probably damaging	Het
Ipcef1	A	G	10: 6,857,936 (GRCm39)		probably benign	Het
Jmjd7	T	C	2: 119,860,895 (GRCm39)	V115A	possibly damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ltbp2	T	G	12: 84,876,885 (GRCm39)	D440A	possibly damaging	Het
Macf1	T	G	4: 123,328,501 (GRCm39)	D4744A	probably damaging	Het
Mapk11	T	C	15: 89,029,372 (GRCm39)	D230G	probably damaging	Het
Mfsd6	A	C	1: 52,747,514 (GRCm39)	Y450*	probably null	Het
Mtmr9	A	G	14: 63,781,001 (GRCm39)	C30R	probably damaging	Het
Ncf1	G	A	5: 134,250,693 (GRCm39)	Q376*	probably null	Het
Ncor2	C	A	5: 125,113,150 (GRCm39)	R296M		Het
Or51ah3	A	T	7: 103,210,004 (GRCm39)	T107S	probably damaging	Het
Or5d37	A	G	2: 87,923,806 (GRCm39)	V158A	probably benign	Het
Or5k8	A	G	16: 58,644,734 (GRCm39)	F113L	probably benign	Het
Or8b57	A	T	9: 40,003,632 (GRCm39)	I210K	possibly damaging	Het
Or8b8	C	A	9: 37,809,415 (GRCm39)	S238R	probably benign	Het
Or8k31-ps1	A	T	2: 86,356,392 (GRCm39)	L43*	probably null	Het
Pate9	A	T	9: 36,445,727 (GRCm39)	C75S	probably damaging	Het
Pcsk6	A	T	7: 65,559,950 (GRCm39)	I92F	probably damaging	Het
Plec	A	G	15: 76,060,445 (GRCm39)	V3164A	probably benign	Het
Prss16	A	G	13: 22,190,175 (GRCm39)		probably benign	Het
Ptch2	T	A	4: 116,967,505 (GRCm39)	H724Q	probably damaging	Het
Pzp	A	T	6: 128,499,077 (GRCm39)	F190Y	probably damaging	Het
Rab6a	A	G	7: 100,275,809 (GRCm39)	T41A	probably benign	Het
Rbm6	A	G	9: 107,660,926 (GRCm39)	L879P	probably damaging	Het
Rem1	T	A	2: 152,469,969 (GRCm39)		probably benign	Het
Rnf17	T	C	14: 56,719,554 (GRCm39)	S935P	probably damaging	Het
Ryr1	C	A	7: 28,802,254 (GRCm39)	V789L	probably damaging	Het
Scgb2b3	A	T	7: 31,059,528 (GRCm39)	M82K	possibly damaging	Het
Sgce	T	A	6: 4,674,585 (GRCm39)	L451F	probably damaging	Het
Slc25a17	A	C	15: 81,207,814 (GRCm39)	V258G	probably benign	Het
Spidr	G	A	16: 15,784,712 (GRCm39)	T452I	probably benign	Het
Tas2r129	A	G	6: 132,928,576 (GRCm39)	N171S	probably benign	Het
Tbc1d24	A	T	17: 24,405,114 (GRCm39)	V10E	probably damaging	Het
Tdo2	T	G	3: 81,876,885 (GRCm39)	M115L	probably benign	Het
Tdrd9	T	C	12: 111,980,935 (GRCm39)		probably null	Het
Tead1	T	A	7: 112,493,601 (GRCm39)	I376N	probably damaging	Het
Tmem26	A	G	10: 68,614,488 (GRCm39)	H301R	possibly damaging	Het
Tnxb	A	G	17: 34,929,134 (GRCm39)	T2726A	possibly damaging	Het
Trim43c	T	C	9: 88,723,966 (GRCm39)	M164T	probably benign	Het
Trpc1	G	A	9: 95,590,288 (GRCm39)	S723L	probably benign	Het
Txndc15	A	G	13: 55,865,914 (GRCm39)	D126G	probably benign	Het
Urb1	C	T	16: 90,569,463 (GRCm39)		probably benign	Het
Usp25	C	T	16: 76,910,721 (GRCm39)	H926Y	probably benign	Het
Uvssa	T	A	5: 33,572,180 (GRCm39)	M700K	possibly damaging	Het
Vdac1	T	A	11: 52,274,789 (GRCm39)	Y146N	probably damaging	Het
Vmn1r231	A	T	17: 21,110,560 (GRCm39)	S118R	probably benign	Het
Vmn1r41	A	G	6: 89,724,080 (GRCm39)	Y207C	probably damaging	Het
Vmn2r79	A	G	7: 86,687,045 (GRCm39)	I809V	probably damaging	Het
Vnn1	G	A	10: 23,776,794 (GRCm39)	G382R	probably damaging	Het
Xcr1	A	T	9: 123,685,680 (GRCm39)	H27Q	probably benign	Het
Yeats2	T	A	16: 19,975,786 (GRCm39)	N94K	probably benign	Het
Zfp28	C	T	7: 6,397,440 (GRCm39)	T625M	probably damaging	Het
Zfp521	T	C	18: 13,977,698 (GRCm39)	Q905R	probably benign	Het
Zfp804b	T	C	5: 6,821,398 (GRCm39)	D555G	probably damaging	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
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
R9773:Calcrl	UTSW	2	84,200,462 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTAAAAGGAAGTGGATTATTGCCG -3'
(R):5'- CCCAGAGCTTTATTTCCACAATGTAG -3'

Sequencing Primer
(F):5'- AAGTGGATTATTGCCGTATTAATTGG -3'
(R):5'- ATGAGTTCATGATCCCAGGC -3'

Posted On

2022-03-25