Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:Oxtr'

710481

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 #

R9389 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

112473683-112489943 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 112489349 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 150 (R150L)

Ref Sequence

ENSEMBL: ENSMUSP00000051132 (fasta)

Gene Model

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

AlphaFold

P97926

Predicted Effect

probably damaging
Transcript: ENSMUST00000053306
AA Change: R150L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051132
Gene: ENSMUSG00000049112
AA Change: R150L

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: ENSMUST00000204027

SMART Domains

Protein: ENSMUSP00000145300
Gene: ENSMUSG00000049112

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	T	6: 41,033,145	G85D	probably benign	Het
4931440F15Rik	A	G	11: 29,825,107	S117P	probably damaging	Het
Abcb1b	G	A	5: 8,825,614	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,466,070	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,603,523	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,916,823	E828D	probably damaging	Het
Ces1f	A	T	8: 93,269,972		probably null	Het
Cfap53	T	A	18: 74,299,343		probably null	Het
Col6a4	T	C	9: 106,000,784	Y1998C	probably damaging	Het
Col9a2	A	G	4: 121,054,751	T675A	probably benign	Het
Dusp6	G	A	10: 99,263,977	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,185,491	M22R	probably benign	Het
Gm19965	A	G	1: 116,821,836	N416D		Het
Gpr162	A	G	6: 124,861,394	Y98H	probably damaging	Het
Igfals	G	A	17: 24,881,626	V564I	probably benign	Het
Il4	C	T	11: 53,614,010	R76H	probably damaging	Het
Itgb1	T	A	8: 128,707,156	N50K	probably benign	Het
Itpr3	A	T	17: 27,095,925	Y682F	possibly damaging	Het
Jak3	C	T	8: 71,684,052	P668S	probably damaging	Het
Malrd1	A	T	2: 15,703,156	N932I	unknown	Het
Mast4	C	A	13: 103,333,930	R88L	probably benign	Het
Mfsd11	T	G	11: 116,873,335	S381A	probably benign	Het
Mrm3	A	G	11: 76,250,030	D288G	probably damaging	Het
Myg1	G	T	15: 102,336,937	V198F	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Npy6r	T	C	18: 44,275,692	I60T	probably damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr1308	G	T	2: 111,960,527	P182H	probably damaging	Het
Olfr1341	A	T	4: 118,710,156	M250L	probably benign	Het
Olfr177	C	T	16: 58,872,613	C179Y	probably damaging	Het
Olfr530	T	C	7: 140,373,017	T198A	probably benign	Het
Olfr811	G	A	10: 129,801,671	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,986,525		probably benign	Het
Pappa	A	T	4: 65,180,888	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,908,079	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,302,300	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,779,315	L81Q	probably damaging	Het
Ptprf	C	A	4: 118,236,039	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,223	N322K	probably damaging	Het
Rev3l	T	A	10: 39,822,971	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,003,012	Y96C	probably damaging	Het
Runx1	C	T	16: 92,613,680	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,645,722	Q125P	probably damaging	Het
Spef2	A	T	15: 9,725,221	M150K	probably damaging	Het
Srcap	T	G	7: 127,542,283	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,355,627	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,229,193	D4427G	possibly damaging	Het
Tg	T	A	15: 66,689,324	M1065K	probably benign	Het
Tgm2	T	C	2: 158,117,896	T656A	probably benign	Het
Ttc37	A	G	13: 76,127,039	D403G	probably benign	Het
Ubr4	A	G	4: 139,425,924	K809E		Het
Vmn1r88	T	C	7: 13,178,619	S301P	probably damaging	Het
Wdr27	A	G	17: 14,891,718	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,465,820	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,997,908	I379N	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
R6667:Oxtr	UTSW	6	112477099	unclassified	probably benign
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
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'- TACAATGTAGACGGCGAGC -3'
(R):5'- TCATGAAGCACCTGAGCATCG -3'

Sequencing Primer
(F):5'- TGTAGACGGCGAGCGTGATC -3'
(R):5'- GGCCGTGTTCCAGGTTCTC -3'

Posted On

2022-04-18