Mutagenetix > Incidental Mutation

Incidental Mutation 'R2262:Calcrl'

243836

Institutional Source

Beutler Lab

Gene Symbol

Calcrl

Ensembl Gene

ENSMUSG00000059588

Gene Name

calcitonin receptor-like

Synonyms

CRLR

MMRRC Submission

040262-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2262 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84330626-84425411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84345173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 279 (D279G)

Ref Sequence

ENSEMBL: ENSMUSP00000097527 (fasta)

Gene Model

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

AlphaFold

Q9R1W5

Predicted Effect

probably damaging
Transcript: ENSMUST00000074262
AA Change: D279G

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

SMART Domains

Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: D279G

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: ENSMUST00000074262
AA Change: D279G

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

SMART Domains

Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: D279G

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: D279G

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

SMART Domains

Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: D279G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099944
AA Change: D279G

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

SMART Domains

Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: D279G

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

0.5488

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (59/59)

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
4932431P20Rik	T	C	7: 29,532,562		noncoding transcript	Het
Ahdc1	A	G	4: 133,063,163	T572A	unknown	Het
Bco1	T	C	8: 117,133,025	L489S	probably damaging	Het
Brinp1	A	G	4: 68,829,354	Y171H	probably damaging	Het
C1rl	A	T	6: 124,506,948	I186F	probably damaging	Het
Cacna1d	A	G	14: 30,491,016	V29A	possibly damaging	Het
Cass4	T	C	2: 172,427,254	S421P	probably damaging	Het
Casz1	G	T	4: 148,929,099	R40L	probably damaging	Het
Cdh23	A	G	10: 60,317,128	V2372A	probably damaging	Het
Cdk17	T	A	10: 93,211,958	S56T	possibly damaging	Het
Ces2h	T	A	8: 105,016,559	M142K	probably damaging	Het
Cfap161	C	T	7: 83,793,372	V78I	probably benign	Het
Chst8	T	A	7: 34,676,010	M135L	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Dcc	C	T	18: 71,374,551	E917K	probably damaging	Het
Dnah11	T	A	12: 117,880,025	M4362L	probably benign	Het
Dnah11	T	C	12: 117,966,639	T3324A	probably damaging	Het
Dnah8	A	G	17: 30,673,835	N798S	probably damaging	Het
Dnajc3	A	G	14: 118,960,820	Q118R	probably damaging	Het
Dok4	A	T	8: 94,866,512	C182S	probably damaging	Het
Fnbp4	G	T	2: 90,757,404	L375F	probably damaging	Het
Gbp8	T	C	5: 105,016,133	Q433R	possibly damaging	Het
Glt1d1	A	G	5: 127,657,112	M117V	probably benign	Het
Hcar1	A	C	5: 123,878,586	D347E	probably benign	Het
Kif16b	T	C	2: 142,740,917	K563E	probably damaging	Het
Klra17	A	G	6: 129,874,794		probably null	Het
Krt35	C	T	11: 100,095,767	M140I	probably benign	Het
Lamb2	A	T	9: 108,480,610	I111F	probably damaging	Het
Nell1	C	T	7: 50,560,821	T494I	possibly damaging	Het
Noa1	G	A	5: 77,309,804	Q85*	probably null	Het
Nsun4	A	T	4: 116,052,950	S138T	probably benign	Het
Pcdh1	A	T	18: 38,198,657	L431H	probably benign	Het
Pde1a	T	A	2: 80,128,931		probably benign	Het
Pdgfra	T	C	5: 75,185,523	V778A	probably benign	Het
Plekhj1	A	T	10: 80,796,472	N55K	probably benign	Het
Ptpn20	A	G	14: 33,612,311	M49V	probably benign	Het
Rbm6	A	G	9: 107,791,090	L547P	probably damaging	Het
Rexo1	C	T	10: 80,549,569	E552K	probably benign	Het
Ryr3	C	G	2: 112,675,873	R3443P	probably damaging	Het
Saxo1	C	T	4: 86,478,975	D109N	probably damaging	Het
Setd2	A	G	9: 110,561,243		probably benign	Het
Slc22a28	T	C	19: 8,071,208	Y358C	probably benign	Het
Sptbn4	T	A	7: 27,434,357	D77V	probably damaging	Het
Ssh1	T	C	5: 113,942,703	S867G	possibly damaging	Het
Stmn2	T	C	3: 8,541,895	F25S	probably damaging	Het
Tcirg1	C	T	19: 3,903,591	R112H	possibly damaging	Het
Tekt4	T	A	17: 25,476,511	S439R	possibly damaging	Het
Trpc1	T	A	9: 95,706,933	N746I	probably damaging	Het
Tuba1c	A	G	15: 99,037,876	H406R	probably damaging	Het
Uqcrfs1	G	A	13: 30,541,107	S150L	probably benign	Het
Vcp	T	C	4: 42,980,828	T761A	probably benign	Het
Vmn1r68	T	C	7: 10,527,445	E242G	probably damaging	Het
Vmn2r29	T	A	7: 7,240,086	H22L	possibly damaging	Het
Vmn2r32	T	A	7: 7,474,619	I258L	probably benign	Het
Vmn2r37	T	A	7: 9,217,944	T307S	probably damaging	Het
Vmn2r6	T	C	3: 64,556,669	N248S	probably benign	Het
Vmn2r63	G	T	7: 42,928,607	T169N	probably benign	Het
Vmn2r67	T	C	7: 85,136,974	T608A	probably damaging	Het
Xpo1	T	A	11: 23,284,634		probably null	Het
Zfp180	T	G	7: 24,104,624	V156G	probably benign	Het
Zfp37	A	T	4: 62,191,636	L397Q	probably damaging	Het

Other mutations in Calcrl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Calcrl	APN	2	84370454	missense	probably benign	0.05
IGL01395:Calcrl	APN	2	84368575	missense	probably benign	0.25
IGL01672:Calcrl	APN	2	84345070	missense	probably damaging	1.00
IGL01738:Calcrl	APN	2	84370449	missense	probably benign	0.00
IGL01773:Calcrl	APN	2	84370443	missense	probably benign
IGL02007:Calcrl	APN	2	84375324	missense	probably benign
IGL02254:Calcrl	APN	2	84348208	missense	probably damaging	1.00
IGL02887:Calcrl	APN	2	84339242	missense	probably benign	0.04
R0008:Calcrl	UTSW	2	84373274	missense	probably benign	0.04
R0008:Calcrl	UTSW	2	84373274	missense	probably benign	0.04
R0485:Calcrl	UTSW	2	84370091	missense	probably benign	0.01
R1579:Calcrl	UTSW	2	84333537	missense	probably benign	0.00
R1640:Calcrl	UTSW	2	84333677	missense	probably damaging	0.98
R1694:Calcrl	UTSW	2	84339287	missense	probably damaging	1.00
R1731:Calcrl	UTSW	2	84345168	critical splice donor site	probably null
R1779:Calcrl	UTSW	2	84351285	missense	probably damaging	1.00
R1992:Calcrl	UTSW	2	84370511	missense	probably damaging	0.98
R2763:Calcrl	UTSW	2	84370503	missense	probably damaging	0.99
R3903:Calcrl	UTSW	2	84368642	splice site	probably benign
R4838:Calcrl	UTSW	2	84351205	missense	probably damaging	0.99
R4901:Calcrl	UTSW	2	84333513	missense	probably benign	0.00
R4997:Calcrl	UTSW	2	84351248	nonsense	probably null
R4998:Calcrl	UTSW	2	84339314	missense	probably damaging	1.00
R5791:Calcrl	UTSW	2	84351265	missense	probably damaging	1.00
R5887:Calcrl	UTSW	2	84370497	missense	probably damaging	1.00
R6046:Calcrl	UTSW	2	84375314	missense	probably benign	0.00
R6207:Calcrl	UTSW	2	84333530	missense	probably benign	0.00
R6959:Calcrl	UTSW	2	84370084	missense	possibly damaging	0.76
R6972:Calcrl	UTSW	2	84368578	missense	probably benign
R7522:Calcrl	UTSW	2	84373364	missense	probably benign
R7653:Calcrl	UTSW	2	84345185	nonsense	probably null
R7911:Calcrl	UTSW	2	84351231	missense	probably damaging	1.00
R8082:Calcrl	UTSW	2	84370442	missense	possibly damaging	0.56
R8110:Calcrl	UTSW	2	84339339	missense	probably damaging	1.00
R8152:Calcrl	UTSW	2	84339249	missense	possibly damaging	0.63
R8753:Calcrl	UTSW	2	84348315	missense	probably benign	0.11
R8753:Calcrl	UTSW	2	84348317	missense	probably benign	0.02
R8903:Calcrl	UTSW	2	84373385	critical splice acceptor site	probably null
R9265:Calcrl	UTSW	2	84370056	missense	possibly damaging	0.93
R9276:Calcrl	UTSW	2	84375299	missense	probably benign
R9773:Calcrl	UTSW	2	84370118	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAAGCAGTGCACCAACTCTG -3'
(R):5'- TACACAGTAAGCGTAGGCATAGTTAG -3'

Sequencing Primer
(F):5'- GCACCAACTCTGAATAAGAAAGTTG -3'
(R):5'- AGGCATAGTTAGTTTTTGCTACTCAG -3'

Posted On

2014-10-16