Mutagenetix > Incidental Mutation

Incidental Mutation 'R0784:Mtnr1b'

76777

Institutional Source

Beutler Lab

Gene Symbol

Mtnr1b

Ensembl Gene

ENSMUSG00000050901

Gene Name

melatonin receptor 1B

Synonyms

Mel1b, Mt2

MMRRC Submission

038964-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0784 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15773910-15785852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15774081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 326 (I326T)

Ref Sequence

ENSEMBL: ENSMUSP00000138524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057920] [ENSMUST00000182947]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057920
AA Change: I326T

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000053086
Gene: ENSMUSG00000050901
AA Change: I326T

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	48	254	3.7e-11	PFAM
Pfam:7TM_GPCR_Srsx	51	323	2.6e-12	PFAM
Pfam:7tm_1	57	308	3.4e-47	PFAM
Pfam:7TM_GPCR_Srv	59	317	1.1e-7	PFAM
low complexity region	348	359	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182947
AA Change: I326T

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138524
Gene: ENSMUSG00000050901
AA Change: I326T

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	48	264	1.8e-10	PFAM
Pfam:7TM_GPCR_Srsx	51	323	2.6e-12	PFAM
Pfam:7tm_1	57	308	1.4e-50	PFAM
Pfam:7TM_GPCR_Srv	59	319	7.5e-8	PFAM
low complexity region	348	359	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.1%

Validation Efficiency

97% (59/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and display no obvious circadian phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	T	C	14: 54,890,985 (GRCm39)		probably benign	Het
Adamts2	C	T	11: 50,558,830 (GRCm39)	R182W	probably damaging	Het
Ahr	C	T	12: 35,558,141 (GRCm39)	G293D	possibly damaging	Het
Akna	G	T	4: 63,295,125 (GRCm39)	T1028K	probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Aoc1l3	T	A	6: 48,964,235 (GRCm39)	M81K	possibly damaging	Het
Asic2	T	A	11: 80,784,815 (GRCm39)	M324L	possibly damaging	Het
Atf6	A	G	1: 170,537,516 (GRCm39)	F635L	probably benign	Het
Atp8b2	A	T	3: 89,864,380 (GRCm39)	V195E	probably damaging	Het
Bicd1	T	A	6: 149,414,861 (GRCm39)	C525S	probably damaging	Het
Cbfa2t3	A	G	8: 123,377,226 (GRCm39)		probably benign	Het
Cd46	G	A	1: 194,774,502 (GRCm39)	T11M	possibly damaging	Het
Cecr2	A	G	6: 120,735,110 (GRCm39)	H754R	possibly damaging	Het
Clcn3	G	T	8: 61,382,237 (GRCm39)	D450E	probably benign	Het
Cobl	T	G	11: 12,216,843 (GRCm39)		probably benign	Het
Cyba	T	A	8: 123,154,422 (GRCm39)	T34S	probably benign	Het
Dennd1a	A	G	2: 37,911,426 (GRCm39)	L187P	probably damaging	Het
Dennd4c	A	T	4: 86,763,145 (GRCm39)	Q1817L	probably benign	Het
Drosha	T	C	15: 12,867,764 (GRCm39)		probably benign	Het
Dync1li2	A	G	8: 105,169,130 (GRCm39)	S34P	probably damaging	Het
Emilin2	T	A	17: 71,582,282 (GRCm39)	D148V	possibly damaging	Het
Galnt11	A	G	5: 25,463,907 (GRCm39)	D393G	probably damaging	Het
Gm5435	T	A	12: 82,542,954 (GRCm39)		noncoding transcript	Het
Gpr176	C	T	2: 118,203,533 (GRCm39)	V46M	possibly damaging	Het
Gpr85	T	A	6: 13,836,748 (GRCm39)	H52L	probably benign	Het
Grn	T	C	11: 102,325,328 (GRCm39)	M246T	possibly damaging	Het
Hnrnpul2	T	C	19: 8,802,416 (GRCm39)	F428L	possibly damaging	Het
Hoxa13	G	C	6: 52,236,917 (GRCm39)	N278K	probably damaging	Het
Irx5	A	G	8: 93,087,118 (GRCm39)	D350G	probably benign	Het
Kat2a	C	T	11: 100,601,667 (GRCm39)	M249I	probably benign	Het
Klhl29	T	C	12: 5,131,251 (GRCm39)	Y782C	probably damaging	Het
Kmt2c	A	T	5: 25,515,893 (GRCm39)	F2650Y	probably benign	Het
Lrp2	A	G	2: 69,348,709 (GRCm39)	I754T	probably benign	Het
LTO1	A	T	7: 144,473,014 (GRCm39)	Y108F	probably benign	Het
Mpl	G	A	4: 118,303,603 (GRCm39)	P472S	possibly damaging	Het
Myh9	A	G	15: 77,661,209 (GRCm39)		probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myo9a	A	G	9: 59,803,828 (GRCm39)		probably benign	Het
Or2z2	T	A	11: 58,346,131 (GRCm39)	I215F	possibly damaging	Het
Or4ac1-ps1	T	A	2: 88,370,511 (GRCm39)		noncoding transcript	Het
Pcsk5	T	C	19: 17,692,133 (GRCm39)	M184V	probably benign	Het
Piezo2	T	A	18: 63,216,306 (GRCm39)	D1143V	probably damaging	Het
Prr36	G	T	8: 4,263,771 (GRCm39)		probably benign	Het
Rnf220	C	A	4: 117,135,195 (GRCm39)		probably benign	Het
Senp3	A	G	11: 69,571,274 (GRCm39)	L131P	probably damaging	Het
Shc4	A	C	2: 125,499,416 (GRCm39)	W354G	probably benign	Het
Slc6a15	A	G	10: 103,252,661 (GRCm39)		probably benign	Het
Smtnl2	T	C	11: 72,290,763 (GRCm39)	D394G	probably damaging	Het
Sry	G	T	Y: 2,662,731 (GRCm39)	Q310K	unknown	Het
St7l	A	G	3: 104,778,240 (GRCm39)	M126V	probably benign	Het
St8sia3	T	C	18: 64,404,772 (GRCm39)	W350R	probably damaging	Het
Stk35	A	T	2: 129,652,722 (GRCm39)	K408*	probably null	Het
Thsd7b	T	C	1: 129,523,096 (GRCm39)		probably benign	Het
Tmem106b	T	C	6: 13,084,252 (GRCm39)	V252A	probably damaging	Het
Trpm7	A	G	2: 126,687,992 (GRCm39)		probably null	Het
Ttf2	T	C	3: 100,870,026 (GRCm39)	D349G	probably benign	Het
Zfp386	T	A	12: 116,023,540 (GRCm39)	C419*	probably null	Het
Zfp541	A	G	7: 15,816,917 (GRCm39)		probably benign	Het

Other mutations in Mtnr1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Mtnr1b	APN	9	15,774,496 (GRCm39)	missense	probably damaging	1.00
IGL02041:Mtnr1b	APN	9	15,774,589 (GRCm39)	missense	probably benign	0.01
IGL02054:Mtnr1b	APN	9	15,785,536 (GRCm39)	missense	possibly damaging	0.93
IGL02147:Mtnr1b	APN	9	15,774,672 (GRCm39)	missense	probably damaging	0.96
IGL02620:Mtnr1b	APN	9	15,785,617 (GRCm39)	missense	possibly damaging	0.47
IGL03046:Mtnr1b	UTSW	9	15,774,059 (GRCm39)	missense	probably benign	0.00
R0362:Mtnr1b	UTSW	9	15,785,600 (GRCm39)	missense	probably damaging	1.00
R1323:Mtnr1b	UTSW	9	15,774,432 (GRCm39)	missense	probably damaging	1.00
R1323:Mtnr1b	UTSW	9	15,774,432 (GRCm39)	missense	probably damaging	1.00
R1572:Mtnr1b	UTSW	9	15,774,438 (GRCm39)	missense	probably damaging	0.99
R1600:Mtnr1b	UTSW	9	15,774,615 (GRCm39)	missense	probably damaging	0.99
R2880:Mtnr1b	UTSW	9	15,774,102 (GRCm39)	missense	probably damaging	1.00
R2932:Mtnr1b	UTSW	9	15,785,620 (GRCm39)	missense	probably damaging	0.97
R4033:Mtnr1b	UTSW	9	15,774,830 (GRCm39)	missense	probably damaging	1.00
R5532:Mtnr1b	UTSW	9	15,774,210 (GRCm39)	missense	probably benign
R5765:Mtnr1b	UTSW	9	15,774,459 (GRCm39)	missense	probably damaging	1.00
R5775:Mtnr1b	UTSW	9	15,774,168 (GRCm39)	missense	possibly damaging	0.73
R5893:Mtnr1b	UTSW	9	15,774,540 (GRCm39)	missense	probably damaging	0.98
R6025:Mtnr1b	UTSW	9	15,774,093 (GRCm39)	missense	probably damaging	1.00
R6247:Mtnr1b	UTSW	9	15,774,082 (GRCm39)	missense	probably benign
R6349:Mtnr1b	UTSW	9	15,774,509 (GRCm39)	nonsense	probably null
R6364:Mtnr1b	UTSW	9	15,774,300 (GRCm39)	missense	possibly damaging	0.63
R7485:Mtnr1b	UTSW	9	15,774,590 (GRCm39)	nonsense	probably null
R8114:Mtnr1b	UTSW	9	15,785,563 (GRCm39)	missense	probably damaging	0.98
R8707:Mtnr1b	UTSW	9	15,785,809 (GRCm39)	start gained	probably benign
R8750:Mtnr1b	UTSW	9	15,785,724 (GRCm39)	nonsense	probably null
R9405:Mtnr1b	UTSW	9	15,774,447 (GRCm39)	missense	possibly damaging	0.63
R9442:Mtnr1b	UTSW	9	15,785,660 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGGCTTGACTTCTGCACCAAC -3'
(R):5'- TCAACTGTATCGGCCTTGCAGTG -3'

Sequencing Primer
(F):5'- AATCTGCCACTAGGAGTTGTC -3'
(R):5'- GGCCATCAACCCAGAGG -3'

Posted On

2013-10-16