Mutagenetix > Incidental Mutation

Incidental Mutation 'R6667:Oxtr'

527017

Institutional Source

Beutler Lab

Gene Symbol

Oxtr

Ensembl Gene

ENSMUSG00000049112

Gene Name

oxytocin receptor

Synonyms

OTR

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6667 (G1)

Quality Score

141.008

Status

Validated

Chromosome

Chromosomal Location

112473683-112489943 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 112477099 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053306] [ENSMUST00000075477] [ENSMUST00000204027]

AlphaFold

P97926

Predicted Effect

unknown
Transcript: ENSMUST00000053306
AA Change: S381I

SMART Domains

Protein: ENSMUSP00000051132
Gene: ENSMUSG00000049112
AA Change: S381I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	46	183	2.5e-8	PFAM
Pfam:7TM_GPCR_Srsx	50	339	1.4e-6	PFAM
Pfam:7tm_1	56	328	3.4e-46	PFAM
low complexity region	365	387	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075477

SMART Domains

Protein: ENSMUSP00000074922
Gene: ENSMUSG00000062694

Domain	Start	End	E-Value	Type
Pfam:Caveolin	15	148	9.5e-61	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000204027
AA Change: S68I

SMART Domains

Protein: ENSMUSP00000145300
Gene: ENSMUSG00000049112
AA Change: S68I

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	2	56	2e-6	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null females fail to lactate and exhibit decreased maternal behavior. Males exhibit an increase in aggression, hypoactivity and vocalization in response to social isolation, and social amnesia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	T	4: 124,610,642	A39E	probably damaging	Het
Agtr1b	T	A	3: 20,315,749	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,307,740	E661G	probably damaging	Het
Ankrd26	C	T	6: 118,507,788	S1496N	probably benign	Het
Asah2	T	C	19: 31,995,358	N659S	probably benign	Het
Atp12a	T	C	14: 56,384,188	V760A	possibly damaging	Het
Casp2	T	C	6: 42,279,836	C343R	probably damaging	Het
Cblb	T	A	16: 52,152,644	M446K	possibly damaging	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Ddit4l	A	G	3: 137,626,121	K83E	probably benign	Het
E430018J23Rik	A	G	7: 127,393,423	M5T	probably benign	Het
Epc2	A	G	2: 49,522,669	T220A	probably damaging	Het
Epha5	T	C	5: 84,071,191	D741G	probably damaging	Het
Flg2	A	T	3: 93,201,761	R365S	possibly damaging	Het
Ggn	A	T	7: 29,172,668	H491L	possibly damaging	Het
Gm21119	T	C	8: 20,621,939	S267P	probably benign	Het
Gm8332	A	T	12: 88,249,705	D132E	unknown	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,406,532	V100A	probably benign	Het
Invs	A	T	4: 48,402,870	Y501F	possibly damaging	Het
Iqcm	G	T	8: 75,753,352	G313W	probably damaging	Het
Jph2	A	G	2: 163,376,286	S157P	probably damaging	Het
Mast4	T	C	13: 102,737,496	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,676,934	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,321,323	L837P	probably damaging	Het
Neb	G	A	2: 52,147,189	T6836I	probably damaging	Het
Nol12	T	A	15: 78,940,080	D133E	probably benign	Het
Olfr1136	A	G	2: 87,693,570	V104A	probably benign	Het
Pcmt1	A	G	10: 7,663,149	L38P	probably damaging	Het
Pik3r2	T	C	8: 70,769,173	Y617C	probably damaging	Het
Prl7a2	T	C	13: 27,661,041	N121D	probably benign	Het
Pvr	G	T	7: 19,905,802	Q380K	probably benign	Het
Rtn2	A	G	7: 19,287,259	E188G	probably benign	Het
Setd4	C	A	16: 93,590,030	R260L	probably benign	Het
Six5	A	G	7: 19,096,569	N374D	probably benign	Het
Slc9b1	T	C	3: 135,371,965	I140T	probably damaging	Het
Supt16	A	G	14: 52,172,063	F797L	probably damaging	Het
Tbata	T	C	10: 61,185,363	L262P	probably damaging	Het
Tti1	A	T	2: 158,008,427	C297*	probably null	Het
Ush1c	C	A	7: 46,225,624	G139C	probably damaging	Het
Vmn1r1	C	T	1: 182,157,777	V108I	probably benign	Het
Vmn2r116	C	T	17: 23,401,092	T600I	probably damaging	Het
Zfp873	A	G	10: 82,060,589	T422A	probably benign	Het
Zfp943	G	A	17: 21,992,908	C325Y	probably damaging	Het

Other mutations in Oxtr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02418:Oxtr	APN	6	112477239	missense	probably damaging	1.00
R0610:Oxtr	UTSW	6	112477177	missense	probably benign	0.08
R0635:Oxtr	UTSW	6	112489200	missense	probably damaging	1.00
R0924:Oxtr	UTSW	6	112489637	splice site	probably null
R0930:Oxtr	UTSW	6	112489637	splice site	probably null
R0959:Oxtr	UTSW	6	112477177	missense	probably benign	0.08
R0961:Oxtr	UTSW	6	112477177	missense	probably benign	0.08
R1099:Oxtr	UTSW	6	112477177	missense	probably benign	0.08
R1101:Oxtr	UTSW	6	112477177	missense	probably benign	0.08
R1102:Oxtr	UTSW	6	112477177	missense	probably benign	0.08
R1344:Oxtr	UTSW	6	112477177	missense	probably benign	0.08
R1401:Oxtr	UTSW	6	112477177	missense	probably benign	0.08
R1682:Oxtr	UTSW	6	112477177	missense	probably benign	0.08
R2254:Oxtr	UTSW	6	112489106	missense	probably damaging	0.98
R3424:Oxtr	UTSW	6	112477230	missense	probably benign	0.31
R3805:Oxtr	UTSW	6	112477186	missense	probably benign	0.14
R4598:Oxtr	UTSW	6	112489752	missense	probably benign	0.20
R5757:Oxtr	UTSW	6	112477261	missense	probably damaging	1.00
R5821:Oxtr	UTSW	6	112489496	missense	probably damaging	1.00
R8551:Oxtr	UTSW	6	112488978	missense	probably damaging	1.00
R8787:Oxtr	UTSW	6	112489910	unclassified	probably benign
R8801:Oxtr	UTSW	6	112489912	unclassified	probably benign
R9114:Oxtr	UTSW	6	112489520	missense	probably damaging	1.00
R9389:Oxtr	UTSW	6	112489349	missense	probably damaging	0.96
R9723:Oxtr	UTSW	6	112489343	missense	probably benign	0.38
Z1176:Oxtr	UTSW	6	112489695	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGACCCTGTCATCTCCCATG -3'
(R):5'- AACAGCTGCTGCAACCCATG -3'

Sequencing Primer
(F):5'- TTTCCCTACCCCAAGTCAGAATATG -3'
(R):5'- ATGGATCTACATGCTCTTCACGGG -3'

Posted On

2018-07-23