Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02418:Oxtr'

292540

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Oxtr

Ensembl Gene

ENSMUSG00000049112

Gene Name

oxytocin receptor

Synonyms

OTR

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02418

Quality Score

Status

Chromosome

Chromosomal Location

112450644-112466904 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112454200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 21 (H21Q)

Ref Sequence

ENSEMBL: ENSMUSP00000145300 (fasta)

Gene Model

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

AlphaFold

P97926

Predicted Effect

probably damaging
Transcript: ENSMUST00000053306
AA Change: H334Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051132
Gene: ENSMUSG00000049112
AA Change: H334Q

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 damaging
Transcript: ENSMUST00000204027
AA Change: H21Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145300
Gene: ENSMUSG00000049112
AA Change: H21Q

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

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	A	16: 56,424,479 (GRCm39)		probably benign	Het
Acsbg2	A	G	17: 57,156,730 (GRCm39)	V436A	probably benign	Het
Afap1l1	T	C	18: 61,885,648 (GRCm39)	D156G	probably damaging	Het
Arhgap21	G	A	2: 20,885,711 (GRCm39)	R489C	probably damaging	Het
Arhgap26	G	A	18: 39,490,620 (GRCm39)		probably benign	Het
Bbs5	T	G	2: 69,485,849 (GRCm39)	*89G	probably null	Het
Ceacam5	A	T	7: 17,493,359 (GRCm39)	Y794F	possibly damaging	Het
Ces3b	T	C	8: 105,812,279 (GRCm39)	V176A	probably damaging	Het
Cfi	A	G	3: 129,642,461 (GRCm39)	H105R	probably benign	Het
Chat	C	T	14: 32,168,906 (GRCm39)	V210I	possibly damaging	Het
Chd1l	A	G	3: 97,488,415 (GRCm39)	S534P	probably benign	Het
Cyb5rl	T	C	4: 106,928,182 (GRCm39)	L106P	probably damaging	Het
Cyp21a1	A	G	17: 35,023,162 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,495,679 (GRCm39)	C1436R	probably damaging	Het
Flg2	T	A	3: 93,108,361 (GRCm39)	F130I	probably benign	Het
Fryl	T	A	5: 73,267,519 (GRCm39)		probably benign	Het
Galnt10	T	C	11: 57,671,994 (GRCm39)	V428A	probably benign	Het
Ganab	A	G	19: 8,888,433 (GRCm39)	D496G	probably null	Het
Gapvd1	T	C	2: 34,620,530 (GRCm39)	T44A	probably benign	Het
Gm17093	T	A	14: 44,758,185 (GRCm39)	M122K	unknown	Het
Gm5356	A	T	8: 89,914,064 (GRCm39)		noncoding transcript	Het
Gmppa	G	T	1: 75,415,664 (GRCm39)	G126C	probably damaging	Het
Il23r	T	C	6: 67,467,656 (GRCm39)	H37R	possibly damaging	Het
Itga11	A	G	9: 62,651,914 (GRCm39)	I349V	probably benign	Het
Lrrc42	A	T	4: 107,100,533 (GRCm39)	Y159*	probably null	Het
Naa16	C	A	14: 79,620,806 (GRCm39)	R57L	probably damaging	Het
Ntmt2	A	T	1: 163,530,725 (GRCm39)	V238E	probably damaging	Het
Or8g4	A	G	9: 39,661,787 (GRCm39)	Y35C	probably damaging	Het
Paqr7	A	G	4: 134,234,284 (GRCm39)	Y47C	probably damaging	Het
Paxbp1	A	C	16: 90,831,000 (GRCm39)	C459G	probably damaging	Het
Pnp2	C	T	14: 51,201,293 (GRCm39)	R222C	possibly damaging	Het
Rtl1	T	C	12: 109,556,883 (GRCm39)	D1652G	probably damaging	Het
Saxo5	T	A	8: 3,526,080 (GRCm39)	F78I	probably damaging	Het
Shoc1	A	T	4: 59,049,075 (GRCm39)		probably benign	Het
Spata4	C	A	8: 55,062,978 (GRCm39)	N294K	probably benign	Het
Tcp11l2	T	A	10: 84,449,470 (GRCm39)	Y478*	probably null	Het
Tcte1	T	A	17: 45,852,128 (GRCm39)	S454T	probably benign	Het
Thsd4	C	T	9: 60,335,598 (GRCm39)	V105I	probably damaging	Het
Tmem117	T	A	15: 94,829,765 (GRCm39)	I200N	probably benign	Het
Tpgs1	G	A	10: 79,505,289 (GRCm39)	V16M	probably benign	Het
Ttn	G	T	2: 76,797,447 (GRCm39)	T539K	probably benign	Het
Usp24	A	G	4: 106,293,557 (GRCm39)	S2542G	probably benign	Het
Vmn2r44	A	T	7: 8,380,864 (GRCm39)	L343H	probably damaging	Het
Zmat2	T	A	18: 36,927,392 (GRCm39)	Y21N	probably damaging	Het
Zyx	C	T	6: 42,334,327 (GRCm39)	A517V	probably damaging	Het

Other mutations in Oxtr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16