Incidental Mutation 'R4232:Hnrnpr'
| ID |
320902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpr
|
| Ensembl Gene |
ENSMUSG00000066037 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein R |
| Synonyms |
hnRNPR, Hnrpr, 2610528B01Rik, 2610003J05Rik |
| MMRRC Submission |
041051-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4232 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
136038253-136086758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136066500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 394
(M394T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084219]
[ENSMUST00000105850]
[ENSMUST00000131671]
[ENSMUST00000148843]
|
| AlphaFold |
Q8VHM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084219
AA Change: M293T
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037
AA Change: M293T
| 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: ENSMUST00000105850
AA Change: M394T
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: M394T
| 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: ENSMUST00000131671
AA Change: M293T
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037
AA Change: M293T
| 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 benign
Transcript: ENSMUST00000148843
AA Change: M394T
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: M394T
| 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 |
noncoding transcript
Transcript: ENSMUST00000153505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182327
|
| Meta Mutation Damage Score |
0.1522 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
92% (58/63) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| Aven |
A |
G |
2: 112,458,113 (GRCm39) |
D167G |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,321,088 (GRCm39) |
F575L |
probably benign |
Het |
| Cflar |
A |
T |
1: 58,780,152 (GRCm39) |
Q249L |
possibly damaging |
Het |
| Col7a1 |
G |
A |
9: 108,801,881 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,327,193 (GRCm39) |
D944G |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,026,873 (GRCm39) |
N717S |
probably benign |
Het |
| Dnaja3 |
T |
A |
16: 4,517,735 (GRCm39) |
N322K |
possibly damaging |
Het |
| Dnajb3 |
A |
G |
1: 88,132,974 (GRCm39) |
S143P |
possibly damaging |
Het |
| Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
| Dvl3 |
A |
G |
16: 20,342,983 (GRCm39) |
|
probably benign |
Het |
| Fkbp7 |
A |
T |
2: 76,493,661 (GRCm39) |
D177E |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 58,106,000 (GRCm39) |
I5V |
probably benign |
Het |
| Garin3 |
C |
A |
11: 46,298,232 (GRCm39) |
T512K |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,871,695 (GRCm39) |
L2639Q |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,444,101 (GRCm39) |
C1364* |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,326,185 (GRCm39) |
E5104G |
probably damaging |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Mrtfa |
T |
A |
15: 80,907,796 (GRCm39) |
K29M |
probably damaging |
Het |
| Mtbp |
CATGA |
CATGAATGA |
15: 55,484,073 (GRCm39) |
|
probably null |
Het |
| Nfkb1 |
A |
G |
3: 135,309,531 (GRCm39) |
V521A |
probably damaging |
Het |
| Or2b7 |
T |
C |
13: 21,739,631 (GRCm39) |
D187G |
probably damaging |
Het |
| Or7g32 |
G |
T |
9: 19,389,022 (GRCm39) |
L175M |
probably damaging |
Het |
| P2rx6 |
T |
C |
16: 17,388,631 (GRCm39) |
L335P |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
| Pgpep1l |
T |
C |
7: 67,886,827 (GRCm39) |
T161A |
probably benign |
Het |
| Prss40 |
A |
G |
1: 34,599,873 (GRCm39) |
V38A |
probably benign |
Het |
| Ptk2 |
C |
A |
15: 73,181,698 (GRCm39) |
R104L |
possibly damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rtp4 |
A |
G |
16: 23,431,833 (GRCm39) |
N122D |
possibly damaging |
Het |
| Samd8 |
A |
G |
14: 21,830,213 (GRCm39) |
Y213C |
probably benign |
Het |
| Shcbp1 |
T |
A |
8: 4,786,372 (GRCm39) |
T577S |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,050,156 (GRCm39) |
V153A |
probably damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,476,936 (GRCm39) |
D775E |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,713,785 (GRCm39) |
S738P |
possibly damaging |
Het |
| Tsc22d4 |
T |
C |
5: 137,749,632 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
A |
T |
9: 119,771,684 (GRCm39) |
H161L |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 103,791,010 (GRCm39) |
E360V |
probably benign |
Het |
| Ugt1a10 |
C |
A |
1: 87,983,932 (GRCm39) |
D243E |
probably benign |
Het |
| Vmn2r19 |
G |
A |
6: 123,306,871 (GRCm39) |
V460I |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,487,011 (GRCm39) |
Y628F |
possibly damaging |
Het |
| Wnk1 |
A |
T |
6: 119,926,222 (GRCm39) |
S1588T |
possibly damaging |
Het |
| Wscd2 |
A |
G |
5: 113,699,045 (GRCm39) |
D200G |
probably benign |
Het |
| Zfp831 |
G |
C |
2: 174,547,447 (GRCm39) |
W1543C |
possibly 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 |
|
|
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 |
|
R7067:Hnrnpr
|
UTSW |
4 |
136,054,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCTCTTTCTGGCTAGGCTAC -3'
(R):5'- GTTTACTTTAAGGTTCATCCCGAC -3'
Sequencing Primer
(F):5'- ACTAGAAGAGGGTGTCACATTCTTG -3'
(R):5'- AGGTTCATCCCGACTTTATTAATCTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation