Incidental Mutation 'R6521:Or11j4'
| ID |
521306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or11j4
|
| Ensembl Gene |
ENSMUSG00000047716 |
| Gene Name |
olfactory receptor family 11 subfamily J member 4 |
| Synonyms |
GA_x6K02T2PMLR-6089963-6090901, MOR106-5, Olfr736 |
| MMRRC Submission |
044647-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R6521 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
50630215-50631153 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50631005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 264
(V264A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058965]
[ENSMUST00000213402]
[ENSMUST00000213755]
[ENSMUST00000215227]
[ENSMUST00000215263]
|
| AlphaFold |
Q8VFT6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058965
AA Change: V264A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000062700
Gene: ENSMUSG00000047716
AA Change: V264A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
311 |
1.5e-45 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
175 |
6.9e-7 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
4.7e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213402
AA Change: V264A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213755
AA Change: V264A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215227
AA Change: V264A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215263
AA Change: V264A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
100% (48/48) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,769,968 (GRCm39) |
S356T |
probably benign |
Het |
| Acsbg2 |
T |
C |
17: 57,168,565 (GRCm39) |
M185V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,581,771 (GRCm39) |
F4758I |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,828,596 (GRCm39) |
|
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| Ano4 |
A |
G |
10: 88,819,640 (GRCm39) |
V537A |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,237,288 (GRCm39) |
L204P |
probably damaging |
Het |
| Cdh20 |
A |
C |
1: 104,869,859 (GRCm39) |
D193A |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,484,756 (GRCm39) |
|
probably null |
Het |
| Celf4 |
T |
A |
18: 25,612,531 (GRCm39) |
|
probably null |
Het |
| Cfap91 |
A |
G |
16: 38,127,121 (GRCm39) |
V545A |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,936,992 (GRCm39) |
F754I |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,145,415 (GRCm39) |
I635N |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,081,689 (GRCm39) |
D1131V |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Hoxc8 |
G |
A |
15: 102,901,135 (GRCm39) |
V193M |
probably benign |
Het |
| Klhdc3 |
A |
G |
17: 46,988,687 (GRCm39) |
V124A |
probably benign |
Het |
| Klhl18 |
A |
G |
9: 110,257,703 (GRCm39) |
I509T |
possibly damaging |
Het |
| Mdfic |
T |
A |
6: 15,729,027 (GRCm39) |
|
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,467,479 (GRCm39) |
D64E |
probably damaging |
Het |
| Mmd2 |
A |
G |
5: 142,560,585 (GRCm39) |
I112T |
probably damaging |
Het |
| Mpl |
C |
T |
4: 118,312,314 (GRCm39) |
|
probably null |
Het |
| Mtmr4 |
A |
G |
11: 87,504,353 (GRCm39) |
T1044A |
possibly damaging |
Het |
| Muc5b |
C |
A |
7: 141,412,908 (GRCm39) |
Y1951* |
probably null |
Het |
| Myo15a |
C |
T |
11: 60,393,195 (GRCm39) |
H2240Y |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 126,309,909 (GRCm39) |
I74K |
probably damaging |
Het |
| Nfxl1 |
A |
T |
5: 72,697,651 (GRCm39) |
|
probably null |
Het |
| Or2ah1 |
A |
T |
2: 85,653,794 (GRCm39) |
I160F |
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,700 (GRCm39) |
I80V |
probably benign |
Het |
| Or8d2 |
C |
T |
9: 38,759,893 (GRCm39) |
T161I |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,154,399 (GRCm39) |
Y2460C |
probably damaging |
Het |
| Pigx |
A |
G |
16: 31,906,129 (GRCm39) |
L64P |
probably damaging |
Het |
| Prss1 |
C |
T |
6: 41,440,615 (GRCm39) |
T230I |
probably damaging |
Het |
| Ptma |
A |
G |
1: 86,455,569 (GRCm39) |
|
probably null |
Het |
| Rab39 |
T |
C |
9: 53,617,331 (GRCm39) |
T29A |
probably benign |
Het |
| Rem2 |
C |
T |
14: 54,715,144 (GRCm39) |
A107V |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,946,152 (GRCm39) |
V531A |
probably damaging |
Het |
| Serhl |
A |
G |
15: 82,985,843 (GRCm39) |
|
probably null |
Het |
| Sirpa |
T |
G |
2: 129,472,075 (GRCm39) |
Y164D |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,069,741 (GRCm39) |
I550T |
possibly damaging |
Het |
| Slc22a14 |
T |
C |
9: 119,049,835 (GRCm39) |
|
probably null |
Het |
| Slfn5 |
A |
G |
11: 82,851,241 (GRCm39) |
N513D |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,910,467 (GRCm39) |
S1831P |
possibly damaging |
Het |
| Swap70 |
T |
C |
7: 109,855,027 (GRCm39) |
L109P |
probably benign |
Het |
| Tas2r119 |
G |
A |
15: 32,178,319 (GRCm39) |
C295Y |
probably damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,570,172 (GRCm39) |
I527L |
probably damaging |
Het |
| Traj31 |
A |
G |
14: 54,425,387 (GRCm39) |
|
probably benign |
Het |
| Unc5a |
T |
A |
13: 55,152,748 (GRCm39) |
D887E |
probably benign |
Het |
| Zfp407 |
T |
A |
18: 84,450,536 (GRCm39) |
H1600L |
probably damaging |
Het |
|
| Other mutations in Or11j4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01765:Or11j4
|
APN |
14 |
50,630,291 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01952:Or11j4
|
APN |
14 |
50,630,860 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01996:Or11j4
|
APN |
14 |
50,631,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02694:Or11j4
|
APN |
14 |
50,630,257 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02717:Or11j4
|
APN |
14 |
50,631,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03185:Or11j4
|
APN |
14 |
50,630,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03218:Or11j4
|
APN |
14 |
50,631,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03048:Or11j4
|
UTSW |
14 |
50,630,245 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0066:Or11j4
|
UTSW |
14 |
50,630,659 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0066:Or11j4
|
UTSW |
14 |
50,630,659 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0089:Or11j4
|
UTSW |
14 |
50,630,321 (GRCm39) |
missense |
probably benign |
|
|
R0254:Or11j4
|
UTSW |
14 |
50,630,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0284:Or11j4
|
UTSW |
14 |
50,630,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Or11j4
|
UTSW |
14 |
50,630,786 (GRCm39) |
nonsense |
probably null |
|
|
R3885:Or11j4
|
UTSW |
14 |
50,630,326 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4302:Or11j4
|
UTSW |
14 |
50,630,903 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4452:Or11j4
|
UTSW |
14 |
50,630,369 (GRCm39) |
missense |
probably benign |
|
|
R4705:Or11j4
|
UTSW |
14 |
50,630,257 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5340:Or11j4
|
UTSW |
14 |
50,630,677 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6007:Or11j4
|
UTSW |
14 |
50,630,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6338:Or11j4
|
UTSW |
14 |
50,630,857 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6358:Or11j4
|
UTSW |
14 |
50,630,845 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6527:Or11j4
|
UTSW |
14 |
50,630,885 (GRCm39) |
nonsense |
probably null |
|
|
R6777:Or11j4
|
UTSW |
14 |
50,631,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6903:Or11j4
|
UTSW |
14 |
50,631,089 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8899:Or11j4
|
UTSW |
14 |
50,630,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0026:Or11j4
|
UTSW |
14 |
50,630,998 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACTGTTCTCATCTGTGG -3'
(R):5'- ACATGTCTAAGACTCCAAGCTC -3'
Sequencing Primer
(F):5'- ATCTGTGGCACTATGAGTTCC -3'
(R):5'- TCGGAGGCTATAGATCATGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation