Mutagenetix > Incidental Mutation

Incidental Mutation 'R4206:Ntsr1'

318902

Institutional Source

Beutler Lab

Gene Symbol

Ntsr1

Ensembl Gene

ENSMUSG00000027568

Gene Name

neurotensin receptor 1

Synonyms

Ntsr1, NTR1, NTR-1, NT-1R

MMRRC Submission

041035-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R4206 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180499976-180544980 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180500752 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 112 (D112G)

Ref Sequence

ENSEMBL: ENSMUSP00000127548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029084] [ENSMUST00000170448]

AlphaFold

O88319

Predicted Effect

probably damaging
Transcript: ENSMUST00000029084
AA Change: D112G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029084
Gene: ENSMUSG00000027568
AA Change: D112G

Domain	Start	End	E-Value	Type
low complexity region	31	49	N/A	INTRINSIC
Pfam:7tm_1	80	369	7.5e-55	PFAM
Pfam:7TM_GPCR_Srv	82	386	1e-8	PFAM
low complexity region	392	398	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170448
AA Change: D112G

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

SMART Domains

Protein: ENSMUSP00000127548
Gene: ENSMUSG00000027568
AA Change: D112G

Domain	Start	End	E-Value	Type
low complexity region	31	49	N/A	INTRINSIC
Pfam:7tm_4	70	283	6.7e-9	PFAM
Pfam:7tm_1	80	369	2e-51	PFAM
Pfam:7TM_GPCR_Srv	83	386	1.8e-8	PFAM
low complexity region	392	398	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neurotensin receptor 1 belongs to the large superfamily of G-protein coupled receptors. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperglycemia, hypothermia, antinociception, and regulation of intestinal motility and secretion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice deficient for this marker have normal baseline prepulse inhibition responses and acoustic startle responses. Mice are heavier, eat more, and have lower body temperatures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,473,515	K81R	probably benign	Het
Acacb	T	C	5: 114,213,651	F1150L	probably benign	Het
Acat3	A	G	17: 12,927,386	Y237H	possibly damaging	Het
Arfgap3	T	C	15: 83,322,668	T240A	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Cabin1	T	C	10: 75,754,841	S23G	possibly damaging	Het
Clasp1	A	G	1: 118,578,906	N949S	probably damaging	Het
Csrp1	T	G	1: 135,745,327	C61G	probably damaging	Het
Dgka	A	T	10: 128,721,195	L637Q	probably damaging	Het
Dst	G	A	1: 34,212,247	R1801H	probably damaging	Het
Edil3	T	C	13: 89,180,278	S284P	probably damaging	Het
Eif2d	A	G	1: 131,154,363	Y64C	probably damaging	Het
Ell2	A	G	13: 75,761,948	D139G	probably damaging	Het
Fam187a	A	G	11: 102,886,212	R281G	probably damaging	Het
Gin1	A	G	1: 97,792,420	D380G	possibly damaging	Het
Gpr149	T	G	3: 62,604,503	D25A	possibly damaging	Het
Gyg	A	G	3: 20,152,737	S90P	probably benign	Het
Hpx	C	T	7: 105,595,147	M190I	probably null	Het
Irf2bpl	C	T	12: 86,883,036	V288I	probably benign	Het
Lyst	A	G	13: 13,635,989	H748R	probably benign	Het
Mmrn1	G	A	6: 60,958,180	G220D	probably damaging	Het
Mpdz	A	T	4: 81,381,762	M333K	probably benign	Het
Muc5ac	C	T	7: 141,817,110	S2556F	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Olfr1410	A	C	1: 92,608,595	T253P	possibly damaging	Het
Olfr657	T	A	7: 104,636,149	N158K	possibly damaging	Het
Olfr8	T	C	10: 78,955,283	F26S	probably benign	Het
Parg	A	G	14: 32,254,536	K178R	probably benign	Het
Pde8b	C	A	13: 95,222,545	C90F	probably benign	Het
Pld1	G	A	3: 28,120,783	V857I	probably benign	Het
Rad54l2	A	C	9: 106,717,795	V321G	probably damaging	Het
Rcn2	A	G	9: 56,045,207	Y112C	possibly damaging	Het
Rnf123	A	T	9: 108,063,963	D639E	probably benign	Het
Rufy2	C	T	10: 63,004,772	Q441*	probably null	Het
Scgb2b12	T	C	7: 32,326,638	Y43C	probably damaging	Het
Scrn3	T	A	2: 73,319,501		probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc22a8	T	C	19: 8,608,233	S321P	probably benign	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Tex2	A	G	11: 106,567,572		probably benign	Het
Tmem2	G	T	19: 21,842,115	R1090L	probably damaging	Het
Trip13	A	G	13: 73,932,890	I119T	probably benign	Het
Tsku	C	T	7: 98,352,998	R42H	probably damaging	Het
Ttn	A	G	2: 76,772,567	I16691T	possibly damaging	Het
Tyr	A	G	7: 87,429,068	L528P	possibly damaging	Het
Ubxn2b	T	C	4: 6,204,565	V142A	probably damaging	Het
Uggt2	C	T	14: 119,049,262	D221N	probably damaging	Het
Wnt4	A	G	4: 137,296,343	K207R	possibly damaging	Het
Zfp608	T	C	18: 54,988,195	R107G	probably damaging	Het

Other mutations in Ntsr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Ntsr1	APN	2	180542542	missense	probably damaging	0.99
IGL01765:Ntsr1	APN	2	180538717	missense	possibly damaging	0.56
IGL02137:Ntsr1	APN	2	180538835	critical splice donor site	probably null
IGL02321:Ntsr1	APN	2	180538834	critical splice donor site	probably null
IGL03349:Ntsr1	APN	2	180500502	missense	probably benign
R0482:Ntsr1	UTSW	2	180501056	missense	possibly damaging	0.54
R0542:Ntsr1	UTSW	2	180542581	missense	probably damaging	1.00
R1081:Ntsr1	UTSW	2	180538756	missense	probably benign	0.14
R1241:Ntsr1	UTSW	2	180500601	missense	probably damaging	1.00
R1540:Ntsr1	UTSW	2	180542647	missense	probably damaging	0.99
R3718:Ntsr1	UTSW	2	180542706	missense	probably benign	0.00
R5481:Ntsr1	UTSW	2	180541520	missense	possibly damaging	0.79
R5703:Ntsr1	UTSW	2	180500433	missense	probably damaging	0.98
R5975:Ntsr1	UTSW	2	180500788	missense	probably damaging	1.00
R6643:Ntsr1	UTSW	2	180500926	missense	probably damaging	1.00
R6754:Ntsr1	UTSW	2	180542683	missense	probably benign	0.00
R7295:Ntsr1	UTSW	2	180500932	missense	probably damaging	1.00
R7316:Ntsr1	UTSW	2	180500752	missense	probably damaging	1.00
R7765:Ntsr1	UTSW	2	180538817	missense	probably damaging	0.99
R7822:Ntsr1	UTSW	2	180538690	missense	probably damaging	1.00
R8087:Ntsr1	UTSW	2	180500172	unclassified	probably benign
R8555:Ntsr1	UTSW	2	180538677	missense	probably benign	0.08
R9447:Ntsr1	UTSW	2	180538747	missense	probably benign	0.10
R9628:Ntsr1	UTSW	2	180541481	missense	probably damaging	1.00
R9629:Ntsr1	UTSW	2	180541481	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCTTGAGCAATGGTTCTG -3'
(R):5'- AAGTAGCGCTCCACACTCAG -3'

Sequencing Primer
(F):5'- AGCAATGGTTCTGGCAATTCC -3'
(R):5'- ACACTCAGGCTGGCTACATTGAG -3'

Posted On

2015-06-10