Incidental Mutation 'R5296:Or2n1d'
| ID |
405443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2n1d
|
| Ensembl Gene |
ENSMUSG00000096840 |
| Gene Name |
olfactory receptor family 2 subfamily N member 1D |
| Synonyms |
Olfr136, MOR256-7, GA_x6K02T2PSCP-2779375-2780313 |
| MMRRC Submission |
042879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R5296 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
38646050-38646988 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 38646347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 100
(Q100*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077203]
[ENSMUST00000208525]
[ENSMUST00000208539]
[ENSMUST00000214035]
[ENSMUST00000216963]
|
| AlphaFold |
Q8VG72 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000077203
AA Change: Q100*
|
| SMART Domains |
Protein: ENSMUSP00000076443
Gene: ENSMUSG00000096840
AA Change: Q100*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.6e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
7.1e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208525
AA Change: Q100*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208539
AA Change: Q100*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214035
AA Change: Q100*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216963
AA Change: Q100*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
100% (65/65) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apobr |
A |
C |
7: 126,187,196 (GRCm39) |
D89A |
probably damaging |
Het |
| Bhlhe41 |
C |
T |
6: 145,808,694 (GRCm39) |
|
probably benign |
Het |
| Cacna1s |
G |
A |
1: 136,023,523 (GRCm39) |
V674M |
probably benign |
Het |
| Cavin2 |
T |
C |
1: 51,329,029 (GRCm39) |
|
probably null |
Het |
| Cd300lb |
T |
C |
11: 114,815,763 (GRCm39) |
S106G |
possibly damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,407,121 (GRCm39) |
V132A |
probably benign |
Het |
| Ddi2 |
G |
T |
4: 141,412,076 (GRCm39) |
Q279K |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,847,151 (GRCm39) |
V4304A |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Epsti1 |
T |
A |
14: 78,142,090 (GRCm39) |
H55Q |
probably benign |
Het |
| Flad1 |
T |
C |
3: 89,318,503 (GRCm39) |
T17A |
probably damaging |
Het |
| Fzd2 |
C |
T |
11: 102,496,981 (GRCm39) |
T475M |
probably damaging |
Het |
| Gemin5 |
C |
A |
11: 58,020,887 (GRCm39) |
W1099L |
probably damaging |
Het |
| Gm9892 |
T |
C |
8: 52,649,964 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb2 |
A |
G |
2: 180,897,779 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,765,833 (GRCm39) |
E55G |
probably damaging |
Het |
| Gvin-ps3 |
A |
T |
7: 105,681,055 (GRCm39) |
|
noncoding transcript |
Het |
| Hltf |
T |
C |
3: 20,162,276 (GRCm39) |
S825P |
probably damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,139,820 (GRCm39) |
Q902L |
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,537,353 (GRCm39) |
P1037L |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lama5 |
A |
C |
2: 179,835,594 (GRCm39) |
L1253R |
probably damaging |
Het |
| Lancl2 |
T |
G |
6: 57,701,567 (GRCm39) |
S230A |
probably benign |
Het |
| Lmcd1 |
A |
G |
6: 112,292,549 (GRCm39) |
M134V |
probably damaging |
Het |
| Lrrc23 |
C |
A |
6: 124,751,445 (GRCm39) |
A205S |
probably damaging |
Het |
| Mfsd13b |
T |
A |
7: 120,590,961 (GRCm39) |
I234N |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,124,061 (GRCm39) |
S386P |
probably damaging |
Het |
| Mylk3 |
A |
C |
8: 86,082,060 (GRCm39) |
F313V |
possibly damaging |
Het |
| Myo9b |
A |
T |
8: 71,786,032 (GRCm39) |
Q643L |
possibly damaging |
Het |
| Nacad |
T |
C |
11: 6,555,745 (GRCm39) |
S2G |
unknown |
Het |
| Olfr908 |
T |
C |
9: 38,427,412 (GRCm39) |
F28S |
probably damaging |
Het |
| Or10z1 |
G |
T |
1: 174,078,322 (GRCm39) |
T57K |
possibly damaging |
Het |
| Or4x6 |
A |
T |
2: 89,949,043 (GRCm39) |
W300R |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,795,048 (GRCm39) |
V2245A |
probably damaging |
Het |
| Pkdrej |
G |
A |
15: 85,701,319 (GRCm39) |
T1539I |
possibly damaging |
Het |
| Plch2 |
G |
T |
4: 155,074,456 (GRCm39) |
|
probably null |
Het |
| Pygm |
G |
A |
19: 6,434,609 (GRCm39) |
R34H |
probably damaging |
Het |
| Rgs12 |
T |
C |
5: 35,178,448 (GRCm39) |
|
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,462,890 (GRCm39) |
I338T |
probably damaging |
Het |
| Sapcd1 |
T |
A |
17: 35,245,707 (GRCm39) |
Q104L |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,836,066 (GRCm39) |
E575G |
probably damaging |
Het |
| Sema6b |
T |
A |
17: 56,434,091 (GRCm39) |
|
probably null |
Het |
| Slc25a11 |
T |
C |
11: 70,537,011 (GRCm39) |
N15D |
probably damaging |
Het |
| Slc26a6 |
C |
T |
9: 108,737,845 (GRCm39) |
T526M |
probably damaging |
Het |
| Tcaf3 |
G |
T |
6: 42,564,444 (GRCm39) |
T906K |
possibly damaging |
Het |
| Thbd |
A |
T |
2: 148,248,903 (GRCm39) |
C322S |
probably damaging |
Het |
| Traf2 |
A |
G |
2: 25,410,452 (GRCm39) |
L399P |
probably damaging |
Het |
| Troap |
T |
A |
15: 98,976,698 (GRCm39) |
V274D |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,277,099 (GRCm39) |
T3406M |
probably damaging |
Het |
| Uts2 |
G |
T |
4: 151,083,508 (GRCm39) |
A40S |
possibly damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,774,603 (GRCm39) |
I251F |
possibly damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,786,230 (GRCm39) |
S592P |
probably damaging |
Het |
| Vps13b |
T |
G |
15: 35,876,559 (GRCm39) |
W2797G |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,981 (GRCm39) |
M51K |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,437,955 (GRCm39) |
|
probably benign |
Het |
| Zfp882 |
T |
A |
8: 72,668,204 (GRCm39) |
F344I |
probably damaging |
Het |
|
| Other mutations in Or2n1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01712:Or2n1d
|
APN |
17 |
38,646,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01787:Or2n1d
|
APN |
17 |
38,646,470 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02480:Or2n1d
|
APN |
17 |
38,646,314 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02603:Or2n1d
|
APN |
17 |
38,646,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03122:Or2n1d
|
APN |
17 |
38,646,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB009:Or2n1d
|
UTSW |
17 |
38,646,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB019:Or2n1d
|
UTSW |
17 |
38,646,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0295:Or2n1d
|
UTSW |
17 |
38,646,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0684:Or2n1d
|
UTSW |
17 |
38,646,735 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1874:Or2n1d
|
UTSW |
17 |
38,646,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3436:Or2n1d
|
UTSW |
17 |
38,646,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3437:Or2n1d
|
UTSW |
17 |
38,646,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Or2n1d
|
UTSW |
17 |
38,646,731 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4715:Or2n1d
|
UTSW |
17 |
38,646,731 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4716:Or2n1d
|
UTSW |
17 |
38,646,731 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4878:Or2n1d
|
UTSW |
17 |
38,646,518 (GRCm39) |
missense |
probably benign |
|
|
R5370:Or2n1d
|
UTSW |
17 |
38,646,335 (GRCm39) |
nonsense |
probably null |
|
|
R5413:Or2n1d
|
UTSW |
17 |
38,646,515 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5988:Or2n1d
|
UTSW |
17 |
38,646,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Or2n1d
|
UTSW |
17 |
38,646,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6550:Or2n1d
|
UTSW |
17 |
38,646,896 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7395:Or2n1d
|
UTSW |
17 |
38,646,755 (GRCm39) |
nonsense |
probably null |
|
|
R7417:Or2n1d
|
UTSW |
17 |
38,646,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7746:Or2n1d
|
UTSW |
17 |
38,646,285 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7747:Or2n1d
|
UTSW |
17 |
38,646,285 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7821:Or2n1d
|
UTSW |
17 |
38,646,855 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7932:Or2n1d
|
UTSW |
17 |
38,646,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8409:Or2n1d
|
UTSW |
17 |
38,646,197 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8911:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8912:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8913:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8914:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8968:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9006:Or2n1d
|
UTSW |
17 |
38,646,723 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9044:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9110:Or2n1d
|
UTSW |
17 |
38,646,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9155:Or2n1d
|
UTSW |
17 |
38,646,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9279:Or2n1d
|
UTSW |
17 |
38,646,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9289:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9295:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9317:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9318:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9348:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9409:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9410:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9411:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9412:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9413:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9512:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9522:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9524:Or2n1d
|
UTSW |
17 |
38,646,540 (GRCm39) |
nonsense |
probably null |
|
|
R9547:Or2n1d
|
UTSW |
17 |
38,646,341 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9580:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
V5088:Or2n1d
|
UTSW |
17 |
38,646,050 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
Z1176:Or2n1d
|
UTSW |
17 |
38,646,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCGCCATCATTCTGGTG -3'
(R):5'- TCCAGTTTATGTATGCCACACAATG -3'
Sequencing Primer
(F):5'- GGTGTCAACCTTAGACCCTCG -3'
(R):5'- GGCAATTGTAATGTAAGTGTAGCCTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation