Incidental Mutation 'R6667:Oxtr'
| ID |
527017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oxtr
|
| Ensembl Gene |
ENSMUSG00000049112 |
| Gene Name |
oxytocin receptor |
| Synonyms |
OTR |
| MMRRC Submission |
044787-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6667 (G1)
|
| Quality Score |
141.008 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
112450644-112466904 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 112454060 bp (GRCm39)
|
| 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: 124,504,435 (GRCm39) |
A39E |
probably damaging |
Het |
| Agtr1b |
T |
A |
3: 20,369,913 (GRCm39) |
N231I |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,440,811 (GRCm39) |
E661G |
probably damaging |
Het |
| Ankrd26 |
C |
T |
6: 118,484,749 (GRCm39) |
S1496N |
probably benign |
Het |
| Asah2 |
T |
C |
19: 31,972,758 (GRCm39) |
N659S |
probably benign |
Het |
| Atp12a |
T |
C |
14: 56,621,645 (GRCm39) |
V760A |
possibly damaging |
Het |
| Casp2 |
T |
C |
6: 42,256,770 (GRCm39) |
C343R |
probably damaging |
Het |
| Cblb |
T |
A |
16: 51,973,007 (GRCm39) |
M446K |
possibly damaging |
Het |
| Cipc |
T |
C |
12: 87,008,864 (GRCm39) |
V241A |
probably benign |
Het |
| Ddit4l |
A |
G |
3: 137,331,882 (GRCm39) |
K83E |
probably benign |
Het |
| Eif1ad10 |
A |
T |
12: 88,216,475 (GRCm39) |
D132E |
unknown |
Het |
| Epc2 |
A |
G |
2: 49,412,681 (GRCm39) |
T220A |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,219,050 (GRCm39) |
D741G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,109,068 (GRCm39) |
R365S |
possibly damaging |
Het |
| Ggn |
A |
T |
7: 28,872,093 (GRCm39) |
H491L |
possibly damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Ighv6-4 |
A |
G |
12: 114,370,152 (GRCm39) |
V100A |
probably benign |
Het |
| Invs |
A |
T |
4: 48,402,870 (GRCm39) |
Y501F |
possibly damaging |
Het |
| Iqcm |
G |
T |
8: 76,479,980 (GRCm39) |
G313W |
probably damaging |
Het |
| Jph2 |
A |
G |
2: 163,218,206 (GRCm39) |
S157P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,874,004 (GRCm39) |
E1596G |
probably damaging |
Het |
| Mllt6 |
T |
A |
11: 97,567,760 (GRCm39) |
L759Q |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,558,735 (GRCm39) |
L837P |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,037,201 (GRCm39) |
T6836I |
probably damaging |
Het |
| Nol12 |
T |
A |
15: 78,824,280 (GRCm39) |
D133E |
probably benign |
Het |
| Or5w13 |
A |
G |
2: 87,523,914 (GRCm39) |
V104A |
probably benign |
Het |
| Pcmt1 |
A |
G |
10: 7,538,913 (GRCm39) |
L38P |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,221,817 (GRCm39) |
Y617C |
probably damaging |
Het |
| Potefam3b |
T |
C |
8: 21,161,955 (GRCm39) |
S267P |
probably benign |
Het |
| Prl7a2 |
T |
C |
13: 27,845,024 (GRCm39) |
N121D |
probably benign |
Het |
| Pvr |
G |
T |
7: 19,639,727 (GRCm39) |
Q380K |
probably benign |
Het |
| Rtn2 |
A |
G |
7: 19,021,184 (GRCm39) |
E188G |
probably benign |
Het |
| Setd4 |
C |
A |
16: 93,386,918 (GRCm39) |
R260L |
probably benign |
Het |
| Six5 |
A |
G |
7: 18,830,494 (GRCm39) |
N374D |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,077,726 (GRCm39) |
I140T |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,409,520 (GRCm39) |
F797L |
probably damaging |
Het |
| Tbata |
T |
C |
10: 61,021,142 (GRCm39) |
L262P |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,347 (GRCm39) |
C297* |
probably null |
Het |
| Ush1c |
C |
A |
7: 45,875,048 (GRCm39) |
G139C |
probably damaging |
Het |
| Vmn1r1 |
C |
T |
1: 181,985,342 (GRCm39) |
V108I |
probably benign |
Het |
| Vmn2r116 |
C |
T |
17: 23,620,066 (GRCm39) |
T600I |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,992,595 (GRCm39) |
M5T |
probably benign |
Het |
| Zfp873 |
A |
G |
10: 81,896,423 (GRCm39) |
T422A |
probably benign |
Het |
| Zfp943 |
G |
A |
17: 22,211,889 (GRCm39) |
C325Y |
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 |
|
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 |
|
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'- AGTGACCCTGTCATCTCCCATG -3'
(R):5'- AACAGCTGCTGCAACCCATG -3'
Sequencing Primer
(F):5'- TTTCCCTACCCCAAGTCAGAATATG -3'
(R):5'- ATGGATCTACATGCTCTTCACGGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation