Incidental Mutation 'R6217:Osmr'
| ID |
503800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osmr
|
| Ensembl Gene |
ENSMUSG00000022146 |
| Gene Name |
oncostatin M receptor |
| Synonyms |
OSMRB |
| MMRRC Submission |
044350-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6217 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
6843049-6904434 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6853047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 615
(Y615C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022746]
[ENSMUST00000176826]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022746
AA Change: Y616C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: Y616C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
35 |
N/A |
INTRINSIC |
|
Blast:FN3
|
234 |
317 |
9e-38 |
BLAST |
|
FN3
|
330 |
412 |
6.25e-3 |
SMART |
|
FN3
|
427 |
512 |
2.75e0 |
SMART |
|
FN3
|
523 |
607 |
7.02e1 |
SMART |
|
FN3
|
619 |
720 |
3.17e-4 |
SMART |
|
transmembrane domain
|
736 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
776 |
787 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176554
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176826
AA Change: Y615C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: Y615C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
35 |
N/A |
INTRINSIC |
|
Blast:FN3
|
234 |
317 |
9e-38 |
BLAST |
|
FN3
|
330 |
412 |
6.25e-3 |
SMART |
|
FN3
|
427 |
512 |
2.75e0 |
SMART |
|
FN3
|
523 |
606 |
2.77e1 |
SMART |
|
FN3
|
618 |
719 |
3.17e-4 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
786 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8534 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
97% (59/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I cytokine receptor family. The encoded protein heterodimerizes with interleukin 6 signal transducer to form the type II oncostatin M receptor and with interleukin 31 receptor A to form the interleukin 31 receptor, and thus transduces oncostatin M and interleukin 31 induced signaling events. Mutations in this gene have been associated with familial primary localized cutaneous amyloidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit anemia, decreased hematocrit, and reduced erythroid progenitor, erythrocyte, platelet, and megakaryocyte cells. Homozygotes also show increased susceptibility to diet-induced obesity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,236,596 (GRCm39) |
D808G |
probably benign |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arsk |
T |
A |
13: 76,239,935 (GRCm39) |
Q46L |
unknown |
Het |
| Asnsd1 |
A |
G |
1: 53,387,187 (GRCm39) |
F147L |
probably benign |
Het |
| Atp5f1a |
T |
A |
18: 77,869,056 (GRCm39) |
S427T |
probably benign |
Het |
| Atp6v1b2 |
A |
C |
8: 69,562,530 (GRCm39) |
|
probably null |
Het |
| AU021092 |
T |
A |
16: 5,030,050 (GRCm39) |
T322S |
possibly damaging |
Het |
| Bcl7c |
A |
T |
7: 127,307,698 (GRCm39) |
M1K |
probably null |
Het |
| Cacna1i |
T |
C |
15: 80,273,333 (GRCm39) |
V1673A |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,522,900 (GRCm39) |
|
probably null |
Het |
| Cdc7 |
A |
G |
5: 107,120,660 (GRCm39) |
D122G |
probably damaging |
Het |
| Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,236,361 (GRCm39) |
Q1950L |
probably damaging |
Het |
| Cutc |
T |
C |
19: 43,748,436 (GRCm39) |
L111S |
probably damaging |
Het |
| Cyp2j6 |
A |
G |
4: 96,406,398 (GRCm39) |
F458L |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,856,971 (GRCm39) |
|
probably null |
Het |
| Dstyk |
T |
C |
1: 132,387,677 (GRCm39) |
S804P |
probably damaging |
Het |
| Ech1 |
A |
G |
7: 28,531,261 (GRCm39) |
D283G |
possibly damaging |
Het |
| Exosc10 |
A |
G |
4: 148,666,768 (GRCm39) |
|
probably null |
Het |
| Fancg |
A |
C |
4: 43,010,084 (GRCm39) |
V5G |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,316,332 (GRCm39) |
V394A |
probably benign |
Het |
| Fcmr |
C |
T |
1: 130,806,060 (GRCm39) |
R339W |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,829,198 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
A |
2: 82,818,762 (GRCm39) |
L4832M |
possibly damaging |
Het |
| Gab1 |
A |
G |
8: 81,518,237 (GRCm39) |
V125A |
possibly damaging |
Het |
| Gabrr1 |
A |
T |
4: 33,149,026 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
C |
3: 88,799,968 (GRCm39) |
V871A |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,267,559 (GRCm39) |
T2056A |
probably damaging |
Het |
| Lrrc3 |
T |
A |
10: 77,736,843 (GRCm39) |
T198S |
probably benign |
Het |
| Lsamp |
A |
T |
16: 41,954,675 (GRCm39) |
E174V |
possibly damaging |
Het |
| Ltbr |
C |
T |
6: 125,284,417 (GRCm39) |
V342M |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,566,742 (GRCm39) |
S1926T |
unknown |
Het |
| Ntn1 |
C |
A |
11: 68,104,158 (GRCm39) |
V497F |
possibly damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,279 (GRCm39) |
L130Q |
probably damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,877 (GRCm39) |
D19G |
probably benign |
Het |
| Or8g22 |
A |
T |
9: 38,958,039 (GRCm39) |
*270R |
probably null |
Het |
| Pcdhgb2 |
T |
C |
18: 37,823,054 (GRCm39) |
V15A |
possibly damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,547,733 (GRCm39) |
N162S |
probably benign |
Het |
| Ppp1r12a |
G |
A |
10: 108,076,045 (GRCm39) |
|
probably null |
Het |
| Prss59 |
G |
A |
6: 40,903,019 (GRCm39) |
P118S |
possibly damaging |
Het |
| Prtg |
C |
T |
9: 72,812,076 (GRCm39) |
P899S |
probably damaging |
Het |
| Ptprn |
A |
T |
1: 75,224,810 (GRCm39) |
S912R |
probably damaging |
Het |
| Rex2 |
A |
G |
4: 147,141,931 (GRCm39) |
T140A |
possibly damaging |
Het |
| Ryr2 |
T |
G |
13: 11,848,964 (GRCm39) |
D339A |
probably damaging |
Het |
| Sf3b1 |
C |
T |
1: 55,046,677 (GRCm39) |
R289H |
probably damaging |
Het |
| Slc17a9 |
A |
G |
2: 180,379,455 (GRCm39) |
D309G |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,134,295 (GRCm39) |
R1004G |
probably benign |
Het |
| Sprr2f |
A |
T |
3: 92,273,366 (GRCm39) |
Q55L |
unknown |
Het |
| Syne1 |
C |
T |
10: 5,243,761 (GRCm39) |
G2801D |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,746,700 (GRCm39) |
V1026D |
probably damaging |
Het |
| Ticam1 |
A |
T |
17: 56,577,730 (GRCm39) |
I455N |
probably damaging |
Het |
| Tmem161b |
A |
G |
13: 84,399,363 (GRCm39) |
I6M |
possibly damaging |
Het |
| Ubn1 |
A |
G |
16: 4,895,096 (GRCm39) |
E714G |
probably damaging |
Het |
| Ush2a |
T |
G |
1: 188,475,651 (GRCm39) |
|
probably null |
Het |
| Usp19 |
G |
A |
9: 108,377,343 (GRCm39) |
V874M |
probably damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,501 (GRCm39) |
T633A |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,815,375 (GRCm39) |
|
probably benign |
Het |
| Zfyve27 |
T |
C |
19: 42,178,016 (GRCm39) |
V386A |
probably damaging |
Het |
| Zscan20 |
A |
T |
4: 128,498,327 (GRCm39) |
W24R |
probably damaging |
Het |
|
| Other mutations in Osmr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Osmr
|
APN |
15 |
6,873,926 (GRCm39) |
nonsense |
probably null |
|
|
IGL00335:Osmr
|
APN |
15 |
6,866,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00497:Osmr
|
APN |
15 |
6,876,547 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL00510:Osmr
|
APN |
15 |
6,853,112 (GRCm39) |
nonsense |
probably null |
|
|
IGL00811:Osmr
|
APN |
15 |
6,845,147 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL00959:Osmr
|
APN |
15 |
6,854,086 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01115:Osmr
|
APN |
15 |
6,876,682 (GRCm39) |
splice site |
probably benign |
|
|
IGL01307:Osmr
|
APN |
15 |
6,873,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01330:Osmr
|
APN |
15 |
6,871,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01633:Osmr
|
APN |
15 |
6,854,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01780:Osmr
|
APN |
15 |
6,858,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02164:Osmr
|
APN |
15 |
6,871,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02207:Osmr
|
APN |
15 |
6,876,628 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02338:Osmr
|
APN |
15 |
6,867,210 (GRCm39) |
nonsense |
probably null |
|
|
IGL02350:Osmr
|
APN |
15 |
6,858,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02357:Osmr
|
APN |
15 |
6,858,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02545:Osmr
|
APN |
15 |
6,853,060 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02619:Osmr
|
APN |
15 |
6,871,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02685:Osmr
|
APN |
15 |
6,845,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02959:Osmr
|
APN |
15 |
6,845,378 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03303:Osmr
|
APN |
15 |
6,872,289 (GRCm39) |
missense |
probably benign |
0.03 |
|
FR4548:Osmr
|
UTSW |
15 |
6,867,184 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Osmr
|
UTSW |
15 |
6,867,187 (GRCm39) |
nonsense |
probably null |
|
|
R0149:Osmr
|
UTSW |
15 |
6,871,432 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0361:Osmr
|
UTSW |
15 |
6,871,432 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0492:Osmr
|
UTSW |
15 |
6,853,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Osmr
|
UTSW |
15 |
6,871,419 (GRCm39) |
splice site |
probably benign |
|
|
R0585:Osmr
|
UTSW |
15 |
6,867,274 (GRCm39) |
missense |
probably benign |
|
|
R0980:Osmr
|
UTSW |
15 |
6,881,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1221:Osmr
|
UTSW |
15 |
6,853,042 (GRCm39) |
nonsense |
probably null |
|
|
R1922:Osmr
|
UTSW |
15 |
6,873,848 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2067:Osmr
|
UTSW |
15 |
6,844,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2136:Osmr
|
UTSW |
15 |
6,881,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Osmr
|
UTSW |
15 |
6,873,891 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3683:Osmr
|
UTSW |
15 |
6,866,534 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3735:Osmr
|
UTSW |
15 |
6,851,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3736:Osmr
|
UTSW |
15 |
6,851,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4011:Osmr
|
UTSW |
15 |
6,854,014 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4175:Osmr
|
UTSW |
15 |
6,882,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4555:Osmr
|
UTSW |
15 |
6,845,201 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4581:Osmr
|
UTSW |
15 |
6,872,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4751:Osmr
|
UTSW |
15 |
6,872,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Osmr
|
UTSW |
15 |
6,882,036 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4986:Osmr
|
UTSW |
15 |
6,846,061 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4997:Osmr
|
UTSW |
15 |
6,845,120 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5077:Osmr
|
UTSW |
15 |
6,873,874 (GRCm39) |
nonsense |
probably null |
|
|
R5093:Osmr
|
UTSW |
15 |
6,850,560 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5120:Osmr
|
UTSW |
15 |
6,856,756 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5331:Osmr
|
UTSW |
15 |
6,872,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5812:Osmr
|
UTSW |
15 |
6,866,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5819:Osmr
|
UTSW |
15 |
6,845,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5876:Osmr
|
UTSW |
15 |
6,850,528 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5986:Osmr
|
UTSW |
15 |
6,873,934 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6018:Osmr
|
UTSW |
15 |
6,845,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6164:Osmr
|
UTSW |
15 |
6,889,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6312:Osmr
|
UTSW |
15 |
6,853,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Osmr
|
UTSW |
15 |
6,850,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6898:Osmr
|
UTSW |
15 |
6,845,364 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7139:Osmr
|
UTSW |
15 |
6,850,569 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7412:Osmr
|
UTSW |
15 |
6,853,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7527:Osmr
|
UTSW |
15 |
6,856,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7630:Osmr
|
UTSW |
15 |
6,846,452 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7730:Osmr
|
UTSW |
15 |
6,853,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7990:Osmr
|
UTSW |
15 |
6,881,948 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8094:Osmr
|
UTSW |
15 |
6,845,102 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8187:Osmr
|
UTSW |
15 |
6,850,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:Osmr
|
UTSW |
15 |
6,844,897 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8366:Osmr
|
UTSW |
15 |
6,850,435 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9051:Osmr
|
UTSW |
15 |
6,882,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9137:Osmr
|
UTSW |
15 |
6,856,709 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9182:Osmr
|
UTSW |
15 |
6,850,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9238:Osmr
|
UTSW |
15 |
6,846,086 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9260:Osmr
|
UTSW |
15 |
6,882,033 (GRCm39) |
missense |
probably benign |
|
|
R9559:Osmr
|
UTSW |
15 |
6,882,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF040:Osmr
|
UTSW |
15 |
6,867,182 (GRCm39) |
small insertion |
probably benign |
|
|
RF055:Osmr
|
UTSW |
15 |
6,867,181 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATCTCCTAGAATGAAGATGTTTC -3'
(R):5'- CTACTAGGGGTTGCTTGCTTAC -3'
Sequencing Primer
(F):5'- GGCTATACAGAGAAACCCTGTCTTG -3'
(R):5'- GGTTGCTTGCTTACTGTCTGTCC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation