Incidental Mutation 'R8551:Oxtr'
| ID |
659860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oxtr
|
| Ensembl Gene |
ENSMUSG00000049112 |
| Gene Name |
oxytocin receptor |
| Synonyms |
OTR |
| MMRRC Submission |
068516-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8551 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
112450644-112466904 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112465939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 274
(K274E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053306]
[ENSMUST00000204027]
|
| AlphaFold |
P97926 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053306
AA Change: K274E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051132
Gene: ENSMUSG00000049112
AA Change: K274E
| 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: ENSMUST00000204027
|
| SMART Domains |
Protein: ENSMUSP00000145300
Gene: ENSMUSG00000049112
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
2 |
56 |
2e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (39/40) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
G |
A |
7: 82,189,678 (GRCm39) |
R634H |
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,864,949 (GRCm39) |
S236R |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,496,227 (GRCm39) |
I1493K |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,155,360 (GRCm39) |
S303P |
possibly damaging |
Het |
| Eri2 |
A |
T |
7: 119,387,062 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
C |
A |
11: 30,881,829 (GRCm39) |
C467F |
probably damaging |
Het |
| Exph5 |
A |
G |
9: 53,285,351 (GRCm39) |
T811A |
possibly damaging |
Het |
| Galr1 |
T |
A |
18: 82,424,191 (GRCm39) |
I29F |
probably benign |
Het |
| Gata3 |
C |
A |
2: 9,867,994 (GRCm39) |
C320F |
probably damaging |
Het |
| Ggnbp2 |
A |
T |
11: 84,732,351 (GRCm39) |
Y247* |
probably null |
Het |
| Gnao1 |
A |
G |
8: 94,682,735 (GRCm39) |
Q307R |
probably damaging |
Het |
| Hbp1 |
T |
C |
12: 31,980,709 (GRCm39) |
T465A |
probably damaging |
Het |
| Liph |
C |
G |
16: 21,800,158 (GRCm39) |
G152R |
probably damaging |
Het |
| Lrguk |
T |
C |
6: 34,093,446 (GRCm39) |
S656P |
probably damaging |
Het |
| Lyrm4 |
T |
A |
13: 36,163,844 (GRCm39) |
N85I |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,808,645 (GRCm39) |
I105N |
possibly damaging |
Het |
| Maml3 |
T |
C |
3: 51,764,488 (GRCm39) |
T159A |
probably benign |
Het |
| Man1c1 |
A |
T |
4: 134,430,326 (GRCm39) |
L152* |
probably null |
Het |
| Map3k20 |
T |
G |
2: 72,232,704 (GRCm39) |
|
probably benign |
Het |
| Mthfsl |
G |
T |
9: 88,570,943 (GRCm39) |
R102S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,337,277 (GRCm39) |
S391R |
probably benign |
Het |
| Naa50 |
A |
G |
16: 43,979,996 (GRCm39) |
D128G |
probably benign |
Het |
| Nlrp14 |
C |
T |
7: 106,782,359 (GRCm39) |
R519C |
possibly damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,109 (GRCm39) |
I151T |
possibly damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Prkn |
A |
G |
17: 11,286,103 (GRCm39) |
K32R |
probably damaging |
Het |
| Relt |
T |
C |
7: 100,512,409 (GRCm39) |
|
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,575,479 (GRCm39) |
I4840F |
possibly damaging |
Het |
| Sccpdh |
T |
A |
1: 179,509,013 (GRCm39) |
Y27N |
probably damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,613,050 (GRCm39) |
S343P |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,068,971 (GRCm39) |
D950G |
probably benign |
Het |
| Stk38 |
A |
G |
17: 29,207,199 (GRCm39) |
Y115H |
probably damaging |
Het |
| Tas2r116 |
T |
C |
6: 132,832,993 (GRCm39) |
V198A |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,175,024 (GRCm39) |
D159G |
probably benign |
Het |
| Trim69 |
A |
G |
2: 122,003,810 (GRCm39) |
D253G |
probably benign |
Het |
| Trpv4 |
A |
T |
5: 114,768,900 (GRCm39) |
F359I |
possibly damaging |
Het |
| Twist1 |
C |
T |
12: 34,008,103 (GRCm39) |
R43W |
unknown |
Het |
| Usp19 |
A |
T |
9: 108,376,496 (GRCm39) |
E1026V |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,513,397 (GRCm39) |
Y417C |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,603,122 (GRCm39) |
I689V |
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 |
|
|
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 |
|
|
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'- CCAGAGACTGATGATGATGTGG -3'
(R):5'- ATTGTACCGGTCATCGTGCTG -3'
Sequencing Primer
(F):5'- GAAAGACCCTAGAACCCTGGG -3'
(R):5'- TGGCCGCCTGCTATGGTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation