Mutagenetix > Incidental Mutations

Incidental Mutation 'R8110:Calcrl'

630787

Institutional Source

Beutler Lab

Gene Symbol

Calcrl

Ensembl Gene

ENSMUSG00000059588

Gene Name

calcitonin receptor-like

Synonyms

CRLR

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84330626-84425411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84339339 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 333 (A333T)

Ref Sequence

ENSEMBL: ENSMUSP00000073875 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000074262
AA Change: A333T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: A333T

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: A333T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: A333T

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: 98.6%
20x: 93.1%

Validation Efficiency

57% (42/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	G	T	11: 23,576,764	T696N	probably benign	Het
Ankrd45	T	C	1: 161,151,319		probably null	Het
Appl1	C	A	14: 26,927,794	G592*	probably null	Het
Arfgef2	T	A	2: 166,878,544	M1501K	probably benign	Het
Cd200r3	T	A	16: 44,951,472	I33N	probably benign	Het
Ceacam15	A	G	7: 16,673,409	L61P	probably benign	Het
Cfap69	T	A	5: 5,582,515	H827L	possibly damaging	Het
Csmd3	T	A	15: 47,644,270	E2780V	probably damaging	Het
Cyp2u1	G	A	3: 131,293,654	T426I	probably damaging	Het
Eefsec	A	C	6: 88,376,330	I119S	probably damaging	Het
Fem1b	T	C	9: 62,796,268	N570S	probably damaging	Het
Fmo9	A	G	1: 166,663,526	M461T	probably benign	Het
Fryl	A	G	5: 73,133,277	Y95H	probably benign	Het
Fsip2	T	C	2: 82,958,673	I346T	probably benign	Het
Fto	T	C	8: 91,485,190	F381S	probably damaging	Het
Fxyd2	G	A	9: 45,408,375		probably null	Het
Gabbr1	G	C	17: 37,048,583	S150T	probably benign	Het
Galnt9	G	T	5: 110,615,473	W448L	probably damaging	Het
Gcnt2	G	T	13: 40,917,722		probably benign	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,667,016		probably null	Het
Gm17727	T	C	9: 35,778,033	*84W	probably null	Het
Gm8882	C	T	6: 132,361,568	G229D	unknown	Het
Gmcl1	G	T	6: 86,721,426	A163E	probably damaging	Het
Hectd4	A	G	5: 121,332,949	Y2633C	possibly damaging	Het
Hsd11b2	A	G	8: 105,522,634	I214V	probably damaging	Het
Hspa12a	T	A	19: 58,821,013	E217V	possibly damaging	Het
Itih2	A	G	2: 10,097,137	F845L	probably damaging	Het
Kcnn3	T	A	3: 89,661,233	L606H	probably damaging	Het
Krt6b	G	A	15: 101,680,142	R28C	probably damaging	Het
Lama2	T	A	10: 26,990,870	D2876V	probably damaging	Het
Lmbrd2	T	C	15: 9,175,192	S397P	probably damaging	Het
Lmf2	C	T	15: 89,352,358		probably null	Het
Lrp2	A	G	2: 69,506,453	I1325T	probably benign	Het
Ltbp2	A	T	12: 84,803,902	C879*	probably null	Het
Map3k1	A	G	13: 111,755,313	V1136A	probably damaging	Het
Mettl3	G	T	14: 52,300,252	H84N	probably benign	Het
Mia2	A	G	12: 59,109,087		probably null	Het
Mlip	G	T	9: 77,239,579	T92K	probably damaging	Het
Nalcn	T	A	14: 123,464,701	Y466F	probably benign	Het
Nav2	T	A	7: 49,551,950	L235*	probably null	Het
Nbn	T	C	4: 15,981,588	V560A	probably benign	Het
Ncln	A	T	10: 81,493,153	Y144N	possibly damaging	Het
Nfe2l2	A	C	2: 75,679,421	D18E	probably benign	Het
Olfr102	A	G	17: 37,313,713	F224L	probably benign	Het
Olfr1131	T	C	2: 87,628,607	I48T	possibly damaging	Het
Olfr356	T	C	2: 36,937,709	C197R	possibly damaging	Het
Olfr432	G	A	1: 174,050,525	A51T	probably benign	Het
Otop3	A	T	11: 115,339,395	M33L	probably benign	Het
Pdzd2	G	A	15: 12,373,506	S2181L	probably benign	Het
Phf14	T	C	6: 11,953,423	I387T	possibly damaging	Het
Prdm9	T	A	17: 15,554,698	N318Y	probably damaging	Het
Proca1	A	G	11: 78,204,911	D123G	probably damaging	Het
Prune2	G	A	19: 17,120,719	G1196S	probably benign	Het
Psd3	T	A	8: 68,121,056	S158C	probably damaging	Het
Rps18	A	G	17: 33,955,136	V15A	probably benign	Het
Sharpin	C	A	15: 76,347,765	R271L	possibly damaging	Het
Smad5	C	A	13: 56,723,888	Q99K	probably damaging	Het
Sox5	T	C	6: 144,116,474	M151V	possibly damaging	Het
Sphkap	A	T	1: 83,278,771	F419Y	possibly damaging	Het
Tbx20	T	A	9: 24,725,525	Y422F	probably damaging	Het
Tcirg1	A	C	19: 3,899,099	F397V	probably damaging	Het
Tex36	G	A	7: 133,595,283	S35F	possibly damaging	Het
Tsen54	G	T	11: 115,814,934	A26S	unknown	Het
Tubb5	G	A	17: 35,838,275		probably benign	Het
Usp50	T	A	2: 126,780,330		probably null	Het
Vmn2r5	A	T	3: 64,491,288	F757I	probably benign	Het
Zbbx	T	C	3: 75,155,442	T3A	possibly damaging	Het
Zfp28	T	A	7: 6,389,829	M168K	probably benign	Het
Zfp568	G	T	7: 30,023,126	G499W	probably damaging	Het
Zfp7	C	G	15: 76,890,931	P391R	possibly 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
R2262:Calcrl	UTSW	2	84345173	missense	probably damaging	1.00
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
R8152:Calcrl	UTSW	2	84339249	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- AACTTGTCAAGCTGCCCTC -3'
(R):5'- GGAGTTCCCATATAAGCTTCTTTC -3'

Sequencing Primer
(F):5'- TCAAGCTGCCCTCTTGAAGG -3'
(R):5'- GACGCCTTGACTGTCTTGGAAC -3'

Posted On

2020-06-30