Incidental Mutation 'R3805:Oxtr'
ID |
274550 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oxtr
|
Ensembl Gene |
ENSMUSG00000049112 |
Gene Name |
oxytocin receptor |
Synonyms |
OTR |
MMRRC Submission |
040762-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3805 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
112450644-112466904 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112454147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 39
(K39R)
|
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: K352R
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000051132 Gene: ENSMUSG00000049112 AA Change: K352R
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: K39R
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000145300 Gene: ENSMUSG00000049112 AA Change: K39R
Domain | Start | End | E-Value | Type |
SCOP:d1l9ha_
|
2 |
56 |
2e-6 |
SMART |
|
Meta Mutation Damage Score |
0.0878 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
100% (41/41) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Aebp2 |
GCGGCC |
GCGGCCGGCC |
6: 140,589,675 (GRCm39) |
|
probably null |
Het |
Ano5 |
T |
C |
7: 51,226,398 (GRCm39) |
F584L |
probably benign |
Het |
Ap1b1 |
T |
A |
11: 4,983,225 (GRCm39) |
|
probably null |
Het |
Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,397,819 (GRCm39) |
I553T |
possibly damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
Ctu1 |
T |
C |
7: 43,326,097 (GRCm39) |
L252P |
probably damaging |
Het |
Dhrs2 |
A |
T |
14: 55,472,205 (GRCm39) |
N32I |
probably benign |
Het |
Dnah1 |
A |
T |
14: 31,016,720 (GRCm39) |
M1599K |
possibly damaging |
Het |
Eri2 |
A |
T |
7: 119,385,231 (GRCm39) |
C423* |
probably null |
Het |
Fam169a |
G |
A |
13: 97,234,192 (GRCm39) |
V155I |
probably benign |
Het |
Get4 |
G |
T |
5: 139,238,286 (GRCm39) |
V23F |
probably damaging |
Het |
Hdac3 |
A |
G |
18: 38,078,745 (GRCm39) |
|
probably null |
Het |
Herc3 |
C |
A |
6: 58,893,835 (GRCm39) |
H970Q |
probably damaging |
Het |
Htt |
A |
G |
5: 35,034,548 (GRCm39) |
|
probably null |
Het |
Ifit1 |
A |
G |
19: 34,625,556 (GRCm39) |
I231V |
probably damaging |
Het |
Lingo4 |
A |
G |
3: 94,309,407 (GRCm39) |
D115G |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
Map7d1 |
A |
T |
4: 126,131,084 (GRCm39) |
|
probably null |
Het |
Morf4l1 |
A |
G |
9: 89,977,196 (GRCm39) |
S203P |
probably benign |
Het |
Naaladl1 |
A |
G |
19: 6,164,895 (GRCm39) |
T628A |
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,264,277 (GRCm39) |
C643* |
probably null |
Het |
Or4ac1-ps1 |
A |
T |
2: 88,370,700 (GRCm39) |
|
noncoding transcript |
Het |
Or4b1 |
T |
G |
2: 89,978,805 (GRCm39) |
|
probably benign |
Het |
Ppp4r4 |
T |
A |
12: 103,566,625 (GRCm39) |
M24K |
probably damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,149,842 (GRCm39) |
F256L |
probably benign |
Het |
Robo4 |
A |
T |
9: 37,315,734 (GRCm39) |
D329V |
possibly damaging |
Het |
Rsph10b |
G |
A |
5: 143,895,206 (GRCm39) |
|
probably null |
Het |
Slc9b2 |
T |
C |
3: 135,030,349 (GRCm39) |
L222P |
probably damaging |
Het |
Speer4a1 |
C |
T |
5: 26,240,082 (GRCm39) |
E223K |
possibly damaging |
Het |
St18 |
T |
A |
1: 6,872,577 (GRCm39) |
L104H |
probably damaging |
Het |
Tmem184c |
C |
A |
8: 78,323,504 (GRCm39) |
D453Y |
unknown |
Het |
Trpv1 |
A |
T |
11: 73,143,879 (GRCm39) |
N237I |
probably damaging |
Het |
Vmn2r77 |
T |
A |
7: 86,444,368 (GRCm39) |
L7* |
probably null |
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 |
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'- GGCACCATATACAGCTCCATG -3'
(R):5'- ACCTGGGATGACTGTTGCTG -3'
Sequencing Primer
(F):5'- ATGCACAGCCACCAGAGGG -3'
(R):5'- GATGACCCCAGAGTGACACCTG -3'
|
Posted On |
2015-04-02 |