Incidental Mutation 'R3424:Oxtr'
| ID |
267848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oxtr
|
| Ensembl Gene |
ENSMUSG00000049112 |
| Gene Name |
oxytocin receptor |
| Synonyms |
OTR |
| MMRRC Submission |
040642-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3424 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
112450644-112466904 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 112454191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 24
(H24Q)
|
| 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: H337Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000051132
Gene: ENSMUSG00000049112
AA Change: H337Q
| 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: H24Q
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145300
Gene: ENSMUSG00000049112
AA Change: H24Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
2 |
56 |
2e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030469F06Rik |
G |
T |
12: 31,234,632 (GRCm39) |
|
noncoding transcript |
Het |
| Atp8b3 |
T |
C |
10: 80,372,181 (GRCm39) |
E16G |
probably benign |
Het |
| BC016579 |
T |
A |
16: 45,449,846 (GRCm39) |
I191F |
probably damaging |
Het |
| Cdh23 |
T |
G |
10: 60,212,660 (GRCm39) |
I1584L |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,823,381 (GRCm39) |
D1011N |
probably benign |
Het |
| Coro2b |
A |
T |
9: 62,336,590 (GRCm39) |
|
probably null |
Het |
| Csf3r |
A |
G |
4: 125,937,549 (GRCm39) |
D811G |
probably damaging |
Het |
| Dst |
T |
G |
1: 34,237,586 (GRCm39) |
|
probably benign |
Het |
| Gabrr1 |
T |
C |
4: 33,158,058 (GRCm39) |
L227P |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,536,539 (GRCm39) |
V52A |
probably benign |
Het |
| Golga4 |
A |
C |
9: 118,363,715 (GRCm39) |
D229A |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,075,833 (GRCm39) |
T1495I |
possibly damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,657 (GRCm39) |
Y12C |
probably damaging |
Het |
| Hps1 |
A |
T |
19: 42,748,952 (GRCm39) |
M522K |
possibly damaging |
Het |
| Lrrc8e |
A |
T |
8: 4,284,611 (GRCm39) |
I279F |
probably damaging |
Het |
| Mettl24 |
C |
T |
10: 40,559,637 (GRCm39) |
Q96* |
probably null |
Het |
| Muc2 |
A |
G |
7: 141,279,595 (GRCm39) |
N193S |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,853,558 (GRCm39) |
L347P |
probably benign |
Het |
| Or10g9 |
T |
A |
9: 39,911,830 (GRCm39) |
E231V |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,980,671 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,730,432 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
| Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
| Slco4c1 |
A |
T |
1: 96,768,976 (GRCm39) |
S295R |
probably benign |
Het |
| Tmeff2 |
A |
G |
1: 51,018,776 (GRCm39) |
|
probably benign |
Het |
| Tspan31 |
T |
A |
10: 126,904,371 (GRCm39) |
Q141L |
probably benign |
Het |
| Virma |
G |
T |
4: 11,513,177 (GRCm39) |
E344* |
probably null |
Het |
| Zbtb17 |
G |
T |
4: 141,192,299 (GRCm39) |
G415C |
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 |
|
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'- TATACAGCTCCATGCACAGC -3'
(R):5'- AGTGGTACCTGGGATGACTG -3'
Sequencing Primer
(F):5'- AAGATCGGCGGCTACACC -3'
(R):5'- ACCTGGGATGACTGTTGCTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation