Mutagenetix > Incidental Mutation

Incidental Mutation 'R1099:Oxtr'

97884

Institutional Source

Beutler Lab

Gene Symbol

Oxtr

Ensembl Gene

ENSMUSG00000049112

Gene Name

oxytocin receptor

Synonyms

OTR

MMRRC Submission

039173-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1099 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112450644-112466904 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112454138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 42 (R42Q)

Ref Sequence

ENSEMBL: ENSMUSP00000145300 (fasta)

Gene Model

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

AlphaFold

P97926

Predicted Effect

probably benign
Transcript: ENSMUST00000053306
AA Change: R355Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000051132
Gene: ENSMUSG00000049112
AA Change: R355Q

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

probably benign
Transcript: ENSMUST00000204027
AA Change: R42Q

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000145300
Gene: ENSMUSG00000049112
AA Change: R42Q

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.1%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Abca7	G	T	10: 79,849,577 (GRCm39)	E1921*	probably null	Het
Acnat2	G	A	4: 49,380,484 (GRCm39)	T298I	probably benign	Het
Agbl4	T	C	4: 110,812,860 (GRCm39)		probably null	Het
Angpt2	T	A	8: 18,749,149 (GRCm39)	T323S	probably damaging	Het
Ano2	A	G	6: 125,784,810 (GRCm39)	K299R	probably damaging	Het
Armc2	G	T	10: 41,793,183 (GRCm39)	Q814K	probably benign	Het
Atp9b	A	C	18: 80,901,841 (GRCm39)	I263S	probably damaging	Het
Cadps2	A	G	6: 23,599,478 (GRCm39)	I276T	probably damaging	Het
Casp12	T	A	9: 5,352,204 (GRCm39)	H135Q	probably benign	Het
Ccdc180	A	G	4: 45,914,225 (GRCm39)	I621V	probably benign	Het
Cd160	G	A	3: 96,713,156 (GRCm39)	A36V	probably damaging	Het
Ctcfl	A	T	2: 172,954,153 (GRCm39)	C315S	probably damaging	Het
Egflam	A	G	15: 7,281,903 (GRCm39)	V411A	probably benign	Het
Ezh1	T	C	11: 101,084,634 (GRCm39)		probably null	Het
Fam171a1	T	A	2: 3,226,354 (GRCm39)	S371T	probably benign	Het
Hspbap1	T	G	16: 35,645,314 (GRCm39)	F333C	probably damaging	Het
Ky	G	C	9: 102,414,923 (GRCm39)	W278C	probably damaging	Het
Lrig3	T	A	10: 125,842,883 (GRCm39)		probably null	Het
Map3k6	A	T	4: 132,974,439 (GRCm39)	S580C	probably damaging	Het
Mark2	T	C	19: 7,254,790 (GRCm39)	T219A	probably benign	Het
Mbd5	A	G	2: 49,148,156 (GRCm39)	I789V	probably benign	Het
Myo18a	T	A	11: 77,709,727 (GRCm39)		probably null	Het
Nos1	A	G	5: 118,061,460 (GRCm39)	T929A	probably damaging	Het
Or2a20	T	C	6: 43,194,558 (GRCm39)	F237S	probably damaging	Het
Or2z9	T	A	8: 72,854,503 (GRCm39)	S300T	probably benign	Het
Palmd	T	C	3: 116,716,874 (GRCm39)	N541S	possibly damaging	Het
Pdzd2	A	G	15: 12,373,173 (GRCm39)	S2321P	probably damaging	Het
Prdm8	T	G	5: 98,331,361 (GRCm39)	I71S	probably damaging	Het
Prkg1	A	C	19: 30,549,012 (GRCm39)	S654R	probably benign	Het
Psmf1	A	T	2: 151,560,590 (GRCm39)	H260Q	probably damaging	Het
Rp1	A	T	1: 4,422,513 (GRCm39)	I179N	possibly damaging	Het
Rreb1	A	G	13: 38,132,867 (GRCm39)	K1681E	probably benign	Het
Rtn1	A	T	12: 72,351,241 (GRCm39)		probably null	Het
Scaf4	T	A	16: 90,059,986 (GRCm39)	I37F	unknown	Het
Sema4c	A	G	1: 36,591,191 (GRCm39)	S383P	probably damaging	Het
Shc4	G	T	2: 125,564,764 (GRCm39)	D178E	probably benign	Het
Slc2a5	A	G	4: 150,226,636 (GRCm39)	N366S	probably benign	Het
Slc6a3	A	G	13: 73,715,760 (GRCm39)	N465S	probably benign	Het
Tbc1d9b	C	A	11: 50,037,135 (GRCm39)	D261E	probably benign	Het
Tdrd3	A	T	14: 87,724,675 (GRCm39)	T359S	probably damaging	Het
Thap3	T	C	4: 152,067,788 (GRCm39)	M97V	probably benign	Het
Thg1l	T	A	11: 45,844,988 (GRCm39)	Q88L	possibly damaging	Het
Tjp3	T	C	10: 81,109,657 (GRCm39)	T849A	probably benign	Het
Tomm70a	G	T	16: 56,963,180 (GRCm39)	D400Y	probably damaging	Het
Trak2	T	C	1: 58,961,000 (GRCm39)	I177V	probably benign	Het
Trim66	T	C	7: 109,074,661 (GRCm39)	I533M	probably benign	Het
Ush2a	T	A	1: 188,380,545 (GRCm39)	Y2285N	probably benign	Het
Ush2a	C	T	1: 188,596,836 (GRCm39)	P3859S	probably damaging	Het

Other mutations in Oxtr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02418:Oxtr	APN	6	112,454,200 (GRCm39)	missense	probably damaging	1.00
R0610:Oxtr	UTSW	6	112,454,138 (GRCm39)	missense	probably benign	0.08
R0635:Oxtr	UTSW	6	112,466,161 (GRCm39)	missense	probably damaging	1.00
R0924:Oxtr	UTSW	6	112,466,598 (GRCm39)	splice site	probably null
R0930:Oxtr	UTSW	6	112,466,598 (GRCm39)	splice site	probably null
R0959:Oxtr	UTSW	6	112,454,138 (GRCm39)	missense	probably benign	0.08
R0961:Oxtr	UTSW	6	112,454,138 (GRCm39)	missense	probably benign	0.08
R1101:Oxtr	UTSW	6	112,454,138 (GRCm39)	missense	probably benign	0.08
R1102:Oxtr	UTSW	6	112,454,138 (GRCm39)	missense	probably benign	0.08
R1344:Oxtr	UTSW	6	112,454,138 (GRCm39)	missense	probably benign	0.08
R1401:Oxtr	UTSW	6	112,454,138 (GRCm39)	missense	probably benign	0.08
R1682:Oxtr	UTSW	6	112,454,138 (GRCm39)	missense	probably benign	0.08
R2254:Oxtr	UTSW	6	112,466,067 (GRCm39)	missense	probably damaging	0.98
R3424:Oxtr	UTSW	6	112,454,191 (GRCm39)	missense	probably benign	0.31
R3805:Oxtr	UTSW	6	112,454,147 (GRCm39)	missense	probably benign	0.14
R4598:Oxtr	UTSW	6	112,466,713 (GRCm39)	missense	probably benign	0.20
R5757:Oxtr	UTSW	6	112,454,222 (GRCm39)	missense	probably damaging	1.00
R5821:Oxtr	UTSW	6	112,466,457 (GRCm39)	missense	probably damaging	1.00
R6667:Oxtr	UTSW	6	112,454,060 (GRCm39)	unclassified	probably benign
R8551:Oxtr	UTSW	6	112,465,939 (GRCm39)	missense	probably damaging	1.00
R8787:Oxtr	UTSW	6	112,466,871 (GRCm39)	unclassified	probably benign
R8801:Oxtr	UTSW	6	112,466,873 (GRCm39)	unclassified	probably benign
R9114:Oxtr	UTSW	6	112,466,481 (GRCm39)	missense	probably damaging	1.00
R9389:Oxtr	UTSW	6	112,466,310 (GRCm39)	missense	probably damaging	0.96
R9723:Oxtr	UTSW	6	112,466,304 (GRCm39)	missense	probably benign	0.38
Z1176:Oxtr	UTSW	6	112,466,656 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATAGGTGGGAGTCCAGGTGATCC -3'
(R):5'- CACCTTGTCTTGTGATCCAGCCAG -3'

Sequencing Primer
(F):5'- AGTCCAGGTGATCCTCTGATG -3'
(R):5'- CCCAGAGTGACACCTGTTC -3'

Posted On

2014-01-05