Mutagenetix > Incidental Mutation

Incidental Mutation 'R0959:Oxtr'

81770

Institutional Source

Beutler Lab

Gene Symbol

Oxtr

Ensembl Gene

ENSMUSG00000049112

Gene Name

oxytocin receptor

Synonyms

OTR

MMRRC Submission

039088-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0959 (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: 99.6%
3x: 98.7%
10x: 95.8%
20x: 89.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,808,434 (GRCm39)	V919A	probably damaging	Het
Adam28	G	A	14: 68,845,387 (GRCm39)	P761L	possibly damaging	Het
Aoc1l3	T	A	6: 48,965,566 (GRCm39)	C525S	possibly damaging	Het
Aplf	G	A	6: 87,623,065 (GRCm39)	P338L	probably benign	Het
Arl5b	T	A	2: 15,077,942 (GRCm39)	I89N	probably damaging	Het
Asap2	T	C	12: 21,297,320 (GRCm39)	V596A	probably damaging	Het
Baz1b	T	G	5: 135,273,076 (GRCm39)	F1400C	probably damaging	Het
Ccdc149	A	T	5: 52,542,497 (GRCm39)	L365Q	probably damaging	Het
Ccdc60	A	G	5: 116,318,870 (GRCm39)	S149P	probably damaging	Het
Ces1b	A	G	8: 93,794,775 (GRCm39)	C275R	probably damaging	Het
Creb3	T	C	4: 43,563,509 (GRCm39)	L163P	probably damaging	Het
Dhx37	T	G	5: 125,500,496 (GRCm39)	N570T	probably benign	Het
Epc1	T	C	18: 6,453,657 (GRCm39)	N223D	probably damaging	Het
Gbp5	C	T	3: 142,208,885 (GRCm39)	H143Y	possibly damaging	Het
Gfod1	A	T	13: 43,456,905 (GRCm39)	D23E	probably benign	Het
Gm7361	A	T	5: 26,467,051 (GRCm39)	E223D	possibly damaging	Het
Izumo1	A	G	7: 45,274,415 (GRCm39)	K161E	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Lrp1b	T	C	2: 41,158,366 (GRCm39)	N1617S	possibly damaging	Het
Med13l	A	T	5: 118,892,350 (GRCm39)	E1924D	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtg2	T	G	2: 179,725,221 (GRCm39)	S145A	probably benign	Het
Mug2	G	A	6: 122,062,454 (GRCm39)	S1442N	probably benign	Het
Myo1b	A	T	1: 51,836,246 (GRCm39)	I315N	probably damaging	Het
Naip2	G	A	13: 100,291,386 (GRCm39)	T1184M	probably benign	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nsrp1	G	A	11: 76,937,285 (GRCm39)	R304*	probably null	Het
Or2a56	G	T	6: 42,932,686 (GRCm39)	V85L	probably benign	Het
Parp4	T	C	14: 56,885,576 (GRCm39)	F1552L	unknown	Het
Pigw	G	A	11: 84,769,033 (GRCm39)	H99Y	probably benign	Het
Ppp6r2	G	A	15: 89,158,379 (GRCm39)	M444I	possibly damaging	Het
Rchy1	A	G	5: 92,105,476 (GRCm39)	F82L	probably damaging	Het
Reln	A	C	5: 22,432,626 (GRCm39)	F125V	probably damaging	Het
Riok1	G	A	13: 38,241,149 (GRCm39)	E435K	probably damaging	Het
Rnf213	A	G	11: 119,343,407 (GRCm39)	R3590G	probably damaging	Het
Scart2	A	G	7: 139,874,704 (GRCm39)	E394G	probably damaging	Het
Scrib	G	C	15: 75,923,310 (GRCm39)	P1249A	probably benign	Het
Shc4	C	T	2: 125,520,607 (GRCm39)		probably null	Het
Slc12a2	T	A	18: 58,037,450 (GRCm39)	I520N	probably damaging	Het
Slc26a5	A	G	5: 22,021,959 (GRCm39)	I484T	probably benign	Het
Slc39a11	G	T	11: 113,354,899 (GRCm39)	T110K	probably benign	Het
Snd1	T	A	6: 28,884,970 (GRCm39)	S774T	probably benign	Het
Spata31d1c	C	T	13: 65,184,129 (GRCm39)	P557L	probably damaging	Het
Tada1	A	G	1: 166,216,198 (GRCm39)	D133G	probably benign	Het
Tg	A	T	15: 66,579,859 (GRCm39)	T1555S	probably damaging	Het
Thra	A	G	11: 98,644,455 (GRCm39)	E15G	possibly damaging	Het
Timd5	A	T	11: 46,427,247 (GRCm39)	R187*	probably null	Het
Ttn	T	A	2: 76,625,440 (GRCm39)	I15128F	probably damaging	Het
Ube2r2	A	G	4: 41,174,066 (GRCm39)	Y68C	probably damaging	Het
Uncx	A	T	5: 139,532,442 (GRCm39)	N169I	probably damaging	Het
Vmn2r100	A	G	17: 19,743,786 (GRCm39)	Y483C	possibly damaging	Het
Xkr4	T	C	1: 3,286,897 (GRCm39)	D431G	probably damaging	Het
Xylb	C	A	9: 119,209,091 (GRCm39)	A311E	possibly damaging	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het
Zbtb39	C	A	10: 127,578,931 (GRCm39)	H502N	probably damaging	Het
Zfp82	A	G	7: 29,755,876 (GRCm39)	L402P	probably damaging	Het
Zpbp2	G	A	11: 98,448,451 (GRCm39)	R256Q	probably benign	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
R0961:Oxtr	UTSW	6	112,454,138 (GRCm39)	missense	probably benign	0.08
R1099: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

2013-11-08