Incidental Mutation 'R6396:Or4c120'
| ID |
515994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c120
|
| Ensembl Gene |
ENSMUSG00000101918 |
| Gene Name |
olfactory receptor family 4 subfamily C member 120 |
| Synonyms |
Olfr1225, GA_x6K02T2Q125-50650037-50649102, MOR233-11 |
| MMRRC Submission |
044544-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6396 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89000563-89001589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 89001034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 174
(D174A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000188861]
[ENSMUST00000216961]
[ENSMUST00000217054]
|
| AlphaFold |
Q7TR01 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188861
AA Change: D174A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140442
Gene: ENSMUSG00000101918
AA Change: D174A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
32 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
39 |
289 |
5.5e-24 |
PFAM |
|
Pfam:7tm_4
|
138 |
287 |
2.3e-35 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216961
AA Change: D174A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217054
AA Change: D174A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap35 |
A |
T |
7: 16,296,224 (GRCm39) |
I947K |
probably damaging |
Het |
| B3galnt2 |
A |
T |
13: 14,170,333 (GRCm39) |
I447F |
probably damaging |
Het |
| Cacna2d3 |
C |
A |
14: 29,118,522 (GRCm39) |
V134L |
probably benign |
Het |
| Clcn4 |
C |
T |
7: 7,297,024 (GRCm39) |
G145S |
probably damaging |
Het |
| Cndp1 |
A |
T |
18: 84,650,135 (GRCm39) |
M186K |
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,627,461 (GRCm39) |
Y98C |
probably damaging |
Het |
| Ctsb |
T |
C |
14: 63,375,550 (GRCm39) |
V172A |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dyrk1a |
C |
A |
16: 94,472,299 (GRCm39) |
Q230K |
probably damaging |
Het |
| Ech1 |
C |
T |
7: 28,529,763 (GRCm39) |
|
probably null |
Het |
| Fam81b |
T |
A |
13: 76,399,968 (GRCm39) |
R97W |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,420,978 (GRCm39) |
E423G |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,233,521 (GRCm39) |
K1786N |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,932,977 (GRCm39) |
I848M |
probably benign |
Het |
| Igkv10-96 |
G |
A |
6: 68,608,969 (GRCm39) |
Q109* |
probably null |
Het |
| Mup6 |
T |
C |
4: 60,004,837 (GRCm39) |
I76T |
possibly damaging |
Het |
| Nmt2 |
A |
G |
2: 3,315,738 (GRCm39) |
R243G |
probably benign |
Het |
| Nsd1 |
G |
A |
13: 55,386,602 (GRCm39) |
G119D |
probably damaging |
Het |
| Or1ad8 |
A |
G |
11: 50,898,312 (GRCm39) |
H171R |
possibly damaging |
Het |
| Or4c113 |
A |
G |
2: 88,885,641 (GRCm39) |
I43T |
probably benign |
Het |
| Or51ab3 |
C |
T |
7: 103,201,888 (GRCm39) |
Q299* |
probably null |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pank3 |
T |
C |
11: 35,669,516 (GRCm39) |
V250A |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,334,495 (GRCm39) |
I270V |
possibly damaging |
Het |
| Pnp2 |
T |
A |
14: 51,200,616 (GRCm39) |
V94E |
probably damaging |
Het |
| Prdm10 |
T |
C |
9: 31,229,842 (GRCm39) |
V86A |
possibly damaging |
Het |
| Resf1 |
A |
G |
6: 149,229,417 (GRCm39) |
D821G |
probably damaging |
Het |
| Riox1 |
G |
A |
12: 83,998,087 (GRCm39) |
D208N |
possibly damaging |
Het |
| Rrp15 |
A |
G |
1: 186,469,783 (GRCm39) |
|
probably null |
Het |
| Skor1 |
G |
T |
9: 63,052,232 (GRCm39) |
P579Q |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,147,860 (GRCm39) |
Y481* |
probably null |
Het |
| Smg7 |
A |
T |
1: 152,724,351 (GRCm39) |
V610E |
probably benign |
Het |
| Tlx1 |
A |
G |
19: 45,144,491 (GRCm39) |
Q71R |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,201,125 (GRCm39) |
Y277* |
probably null |
Het |
| Zswim2 |
T |
A |
2: 83,754,062 (GRCm39) |
R199S |
probably damaging |
Het |
|
| Other mutations in Or4c120 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03230:Or4c120
|
APN |
2 |
89,001,433 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03381:Or4c120
|
APN |
2 |
89,001,523 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL03147:Or4c120
|
UTSW |
2 |
89,001,316 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4458001:Or4c120
|
UTSW |
2 |
89,000,977 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0100:Or4c120
|
UTSW |
2 |
89,001,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0373:Or4c120
|
UTSW |
2 |
89,000,757 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0482:Or4c120
|
UTSW |
2 |
89,000,975 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0491:Or4c120
|
UTSW |
2 |
89,000,704 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0548:Or4c120
|
UTSW |
2 |
89,000,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1123:Or4c120
|
UTSW |
2 |
89,001,212 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1511:Or4c120
|
UTSW |
2 |
89,001,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1565:Or4c120
|
UTSW |
2 |
89,000,971 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4204:Or4c120
|
UTSW |
2 |
89,001,124 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4580:Or4c120
|
UTSW |
2 |
89,001,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4669:Or4c120
|
UTSW |
2 |
89,001,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Or4c120
|
UTSW |
2 |
89,000,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6391:Or4c120
|
UTSW |
2 |
89,000,942 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7103:Or4c120
|
UTSW |
2 |
89,000,827 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7187:Or4c120
|
UTSW |
2 |
89,001,714 (GRCm39) |
start gained |
probably benign |
|
|
R7394:Or4c120
|
UTSW |
2 |
89,000,705 (GRCm39) |
missense |
probably benign |
|
|
R7758:Or4c120
|
UTSW |
2 |
89,001,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8073:Or4c120
|
UTSW |
2 |
89,001,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9012:Or4c120
|
UTSW |
2 |
89,000,929 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9632:Or4c120
|
UTSW |
2 |
89,001,752 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAGGGCTTTAAATTTCCCTTCAG -3'
(R):5'- GCACTTCTTCACTGGGATGG -3'
Sequencing Primer
(F):5'- AAATTTCCCTTCAGAGCTGTGG -3'
(R):5'- ATAGTACTGTCAGCCATGGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation