Incidental Mutation 'R7067:Hnrnpr'
| ID |
548615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpr
|
| Ensembl Gene |
ENSMUSG00000066037 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein R |
| Synonyms |
hnRNPR, Hnrpr, 2610528B01Rik, 2610003J05Rik |
| MMRRC Submission |
045163-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7067 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
136038253-136086758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 136054704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 219
(A219V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084219]
[ENSMUST00000105850]
[ENSMUST00000125696]
[ENSMUST00000131671]
[ENSMUST00000134524]
[ENSMUST00000145282]
[ENSMUST00000148843]
|
| AlphaFold |
Q8VHM5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084219
AA Change: A118V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037
AA Change: A118V
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
166 |
240 |
1.27e-16 |
SMART |
|
RRM
|
247 |
324 |
9.42e-11 |
SMART |
|
RRM
|
342 |
407 |
3.76e-19 |
SMART |
|
low complexity region
|
419 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
620 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105850
AA Change: A219V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: A219V
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
166 |
240 |
1.27e-16 |
SMART |
|
RRM
|
247 |
324 |
9.42e-11 |
SMART |
|
RRM
|
342 |
407 |
3.76e-19 |
SMART |
|
low complexity region
|
419 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
620 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125696
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131671
AA Change: A118V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037
AA Change: A118V
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
65 |
139 |
1.27e-16 |
SMART |
|
RRM
|
146 |
223 |
9.42e-11 |
SMART |
|
RRM
|
241 |
306 |
3.76e-19 |
SMART |
|
low complexity region
|
318 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
519 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134524
AA Change: A219V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119666
Gene: ENSMUSG00000066037
AA Change: A219V
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
166 |
240 |
1.27e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145282
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148843
AA Change: A219V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: A219V
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
166 |
240 |
1.27e-16 |
SMART |
|
RRM
|
247 |
324 |
9.42e-11 |
SMART |
|
RRM
|
342 |
407 |
3.76e-19 |
SMART |
|
low complexity region
|
419 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
620 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (62/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
A |
16: 90,852,921 (GRCm39) |
S72C |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,241,845 (GRCm39) |
D1236G |
probably benign |
Het |
| Abcc6 |
T |
C |
7: 45,668,114 (GRCm39) |
N165D |
probably benign |
Het |
| Aebp1 |
A |
G |
11: 5,816,431 (GRCm39) |
|
probably null |
Het |
| Afg2a |
C |
T |
3: 37,485,847 (GRCm39) |
Q190* |
probably null |
Het |
| Anapc4 |
A |
G |
5: 53,019,577 (GRCm39) |
T580A |
probably benign |
Het |
| Apob |
T |
C |
12: 8,059,423 (GRCm39) |
I2602T |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,811,387 (GRCm39) |
|
probably null |
Het |
| Asap3 |
T |
A |
4: 135,968,673 (GRCm39) |
|
probably null |
Het |
| Bend4 |
A |
G |
5: 67,557,611 (GRCm39) |
Y402H |
probably damaging |
Het |
| Ccn2 |
A |
G |
10: 24,472,873 (GRCm39) |
Y261C |
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,167,489 (GRCm39) |
N271S |
probably benign |
Het |
| Csf2rb2 |
A |
T |
15: 78,176,694 (GRCm39) |
W233R |
probably damaging |
Het |
| Cyp2u1 |
G |
A |
3: 131,087,202 (GRCm39) |
L460F |
probably damaging |
Het |
| Dnm3 |
A |
G |
1: 162,148,540 (GRCm39) |
L277P |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,817,926 (GRCm39) |
N135I |
probably damaging |
Het |
| Elapor2 |
G |
T |
5: 9,316,295 (GRCm39) |
A9S |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,811,078 (GRCm39) |
S2466T |
possibly damaging |
Het |
| Gal3st2 |
C |
T |
1: 93,802,447 (GRCm39) |
A276V |
possibly damaging |
Het |
| Gm47985 |
A |
T |
1: 151,059,241 (GRCm39) |
D294V |
unknown |
Het |
| Golga1 |
A |
T |
2: 38,937,731 (GRCm39) |
D104E |
probably benign |
Het |
| Hsd3b7 |
T |
C |
7: 127,399,888 (GRCm39) |
|
probably null |
Het |
| Hspa8 |
T |
C |
9: 40,715,921 (GRCm39) |
I562T |
probably damaging |
Het |
| Htra4 |
C |
T |
8: 25,523,717 (GRCm39) |
V283M |
probably damaging |
Het |
| Il36rn |
C |
T |
2: 24,167,541 (GRCm39) |
R11* |
probably null |
Het |
| Iqcd |
A |
G |
5: 120,743,212 (GRCm39) |
T325A |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,832,271 (GRCm39) |
M624K |
probably benign |
Het |
| Krt25 |
G |
T |
11: 99,208,209 (GRCm39) |
Q340K |
probably benign |
Het |
| Lamp3 |
T |
A |
16: 19,518,413 (GRCm39) |
N275Y |
probably damaging |
Het |
| Lpin2 |
A |
C |
17: 71,551,853 (GRCm39) |
K789T |
possibly damaging |
Het |
| Mroh2b |
T |
C |
15: 4,929,986 (GRCm39) |
I24T |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,569,547 (GRCm39) |
I991F |
unknown |
Het |
| Ntf5 |
T |
A |
7: 45,065,048 (GRCm39) |
L60Q |
probably damaging |
Het |
| Nuak1 |
A |
G |
10: 84,276,158 (GRCm39) |
S22P |
possibly damaging |
Het |
| Obox8 |
T |
C |
7: 14,066,979 (GRCm39) |
T22A |
possibly damaging |
Het |
| Or8k21 |
T |
A |
2: 86,144,911 (GRCm39) |
T240S |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,967,074 (GRCm39) |
V405A |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,640,934 (GRCm39) |
S147P |
probably benign |
Het |
| Pole |
G |
T |
5: 110,482,084 (GRCm39) |
G142V |
probably damaging |
Het |
| Poli |
G |
A |
18: 70,642,488 (GRCm39) |
Q508* |
probably null |
Het |
| Repin1 |
T |
A |
6: 48,574,850 (GRCm39) |
L537* |
probably null |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
| Slc30a2 |
T |
A |
4: 134,071,529 (GRCm39) |
|
probably null |
Het |
| Slit3 |
A |
G |
11: 35,399,057 (GRCm39) |
S141G |
probably benign |
Het |
| Spon2 |
A |
G |
5: 33,371,958 (GRCm39) |
S283P |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,734,266 (GRCm39) |
|
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,694,019 (GRCm39) |
D89G |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,184,586 (GRCm39) |
I4099T |
probably damaging |
Het |
| Syt5 |
T |
C |
7: 4,546,075 (GRCm39) |
D105G |
probably benign |
Het |
| Tlx3 |
C |
T |
11: 33,153,204 (GRCm39) |
G86S |
probably damaging |
Het |
| Trim24 |
A |
T |
6: 37,934,775 (GRCm39) |
|
probably null |
Het |
| Umodl1 |
G |
A |
17: 31,201,246 (GRCm39) |
V392I |
probably damaging |
Het |
| Unc80 |
C |
A |
1: 66,685,731 (GRCm39) |
T2285K |
possibly damaging |
Het |
| Vars1 |
G |
A |
17: 35,230,455 (GRCm39) |
V513I |
probably damaging |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,849 (GRCm39) |
Q146L |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,414,302 (GRCm39) |
I714V |
probably benign |
Het |
| Xbp1 |
T |
A |
11: 5,474,275 (GRCm39) |
S159T |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,851,565 (GRCm39) |
H194Q |
probably damaging |
Het |
| Zc3h4 |
A |
T |
7: 16,162,976 (GRCm39) |
K459* |
probably null |
Het |
| Zdhhc6 |
G |
A |
19: 55,292,871 (GRCm39) |
R292* |
probably null |
Het |
| Zfp383 |
T |
A |
7: 29,608,071 (GRCm39) |
M1K |
probably null |
Het |
| Zfp703 |
A |
G |
8: 27,469,044 (GRCm39) |
D236G |
probably damaging |
Het |
|
| Other mutations in Hnrnpr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Hnrnpr
|
APN |
4 |
136,066,856 (GRCm39) |
missense |
unknown |
|
|
IGL00844:Hnrnpr
|
APN |
4 |
136,066,516 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01374:Hnrnpr
|
APN |
4 |
136,054,729 (GRCm39) |
splice site |
probably benign |
|
|
IGL01704:Hnrnpr
|
APN |
4 |
136,056,692 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01825:Hnrnpr
|
APN |
4 |
136,066,850 (GRCm39) |
nonsense |
probably null |
|
|
IGL01843:Hnrnpr
|
APN |
4 |
136,066,724 (GRCm39) |
splice site |
probably benign |
|
|
IGL01871:Hnrnpr
|
APN |
4 |
136,066,885 (GRCm39) |
missense |
unknown |
|
|
IGL02376:Hnrnpr
|
APN |
4 |
136,046,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02557:Hnrnpr
|
APN |
4 |
136,046,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Hnrnpr
|
APN |
4 |
136,043,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4677001:Hnrnpr
|
UTSW |
4 |
136,056,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Hnrnpr
|
UTSW |
4 |
136,054,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0219:Hnrnpr
|
UTSW |
4 |
136,066,474 (GRCm39) |
splice site |
probably benign |
|
|
R1459:Hnrnpr
|
UTSW |
4 |
136,056,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Hnrnpr
|
UTSW |
4 |
136,059,799 (GRCm39) |
nonsense |
probably null |
|
|
R2007:Hnrnpr
|
UTSW |
4 |
136,046,824 (GRCm39) |
unclassified |
probably benign |
|
|
R2364:Hnrnpr
|
UTSW |
4 |
136,054,640 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3788:Hnrnpr
|
UTSW |
4 |
136,063,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4066:Hnrnpr
|
UTSW |
4 |
136,066,657 (GRCm39) |
intron |
probably benign |
|
|
R4232:Hnrnpr
|
UTSW |
4 |
136,066,500 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4433:Hnrnpr
|
UTSW |
4 |
136,044,459 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4664:Hnrnpr
|
UTSW |
4 |
136,044,486 (GRCm39) |
unclassified |
probably benign |
|
|
R4990:Hnrnpr
|
UTSW |
4 |
136,063,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4990:Hnrnpr
|
UTSW |
4 |
136,056,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5058:Hnrnpr
|
UTSW |
4 |
136,063,648 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5328:Hnrnpr
|
UTSW |
4 |
136,066,527 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5469:Hnrnpr
|
UTSW |
4 |
136,046,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5641:Hnrnpr
|
UTSW |
4 |
136,059,798 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7250:Hnrnpr
|
UTSW |
4 |
136,059,746 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7254:Hnrnpr
|
UTSW |
4 |
136,059,886 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8213:Hnrnpr
|
UTSW |
4 |
136,044,486 (GRCm39) |
unclassified |
probably benign |
|
|
R8942:Hnrnpr
|
UTSW |
4 |
136,059,791 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9008:Hnrnpr
|
UTSW |
4 |
136,056,737 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9502:Hnrnpr
|
UTSW |
4 |
136,056,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9515:Hnrnpr
|
UTSW |
4 |
136,063,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Hnrnpr
|
UTSW |
4 |
136,063,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGAAGTCTGACTCTGGTTC -3'
(R):5'- GTACCAATTCTAAAGCTCGACAG -3'
Sequencing Primer
(F):5'- GACTCTGGTTCTAAAATGAAGAGTGC -3'
(R):5'- CATACTAACCAACCTTGTTAGCTTAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation