Incidental Mutation 'R8213:Hnrnpr'
| ID |
636245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpr
|
| Ensembl Gene |
ENSMUSG00000066037 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein R |
| Synonyms |
hnRNPR, Hnrpr, 2610528B01Rik, 2610003J05Rik |
| MMRRC Submission |
067655-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8213 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
136310942-136359447 bp(+) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 136317175 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084219]
[ENSMUST00000105850]
[ENSMUST00000125696]
[ENSMUST00000131671]
[ENSMUST00000134524]
[ENSMUST00000145282]
[ENSMUST00000148843]
[ENSMUST00000156259]
|
| AlphaFold |
Q8VHM5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084219
AA Change: D22G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037
AA Change: D22G
| 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: D123G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: D123G
| 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: ENSMUST00000125696
AA Change: D22G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131671
AA Change: D22G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037
AA Change: D22G
| 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: D123G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119666
Gene: ENSMUSG00000066037
AA Change: D123G
| 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: D123G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: D123G
| 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: ENSMUST00000156259
|
| Meta Mutation Damage Score |
0.1775 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (65/66) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
C |
15: 60,919,756 (GRCm38) |
Y277C |
probably damaging |
Het |
| Acss1 |
T |
A |
2: 150,619,710 (GRCm38) |
D651V |
possibly damaging |
Het |
| Aktip |
G |
T |
8: 91,124,866 (GRCm38) |
P243H |
possibly damaging |
Het |
| Arl11 |
T |
G |
14: 61,311,265 (GRCm38) |
S175A |
probably benign |
Het |
| Aup1 |
A |
G |
6: 83,054,607 (GRCm38) |
|
probably benign |
Het |
| Avil |
A |
T |
10: 127,008,321 (GRCm38) |
I250F |
probably damaging |
Het |
| Btnl6 |
A |
T |
17: 34,508,883 (GRCm38) |
|
probably null |
Het |
| C77080 |
A |
T |
4: 129,221,459 (GRCm38) |
V1070D |
possibly damaging |
Het |
| Ccdc7b |
C |
A |
8: 129,178,291 (GRCm38) |
Q137K |
probably benign |
Het |
| Cdk11b |
G |
A |
4: 155,639,881 (GRCm38) |
E319K |
unknown |
Het |
| Chka |
A |
C |
19: 3,885,882 (GRCm38) |
E196A |
probably damaging |
Het |
| Depdc5 |
C |
T |
5: 32,937,637 (GRCm38) |
R753C |
probably damaging |
Het |
| Dhx57 |
T |
A |
17: 80,275,156 (GRCm38) |
D340V |
possibly damaging |
Het |
| Dicer1 |
A |
T |
12: 104,702,693 (GRCm38) |
D1243E |
probably benign |
Het |
| Dnajb9 |
A |
T |
12: 44,207,133 (GRCm38) |
L164M |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,831,444 (GRCm38) |
V785A |
possibly damaging |
Het |
| Efcab5 |
T |
C |
11: 77,116,071 (GRCm38) |
Y909C |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,208,783 (GRCm38) |
S226T |
probably benign |
Het |
| Fgd6 |
A |
T |
10: 94,044,052 (GRCm38) |
D256V |
probably benign |
Het |
| Fhl5 |
A |
T |
4: 25,207,113 (GRCm38) |
Y218* |
probably null |
Het |
| Filip1 |
C |
A |
9: 79,818,092 (GRCm38) |
A1082S |
probably benign |
Het |
| Gm13088 |
T |
A |
4: 143,654,185 (GRCm38) |
M423L |
probably benign |
Het |
| Gm13128 |
A |
T |
4: 144,330,460 (GRCm38) |
D71V |
probably benign |
Het |
| Heatr5a |
G |
A |
12: 51,891,443 (GRCm38) |
T1484M |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,450,888 (GRCm38) |
R2417L |
probably damaging |
Het |
| Igsf5 |
A |
T |
16: 96,372,988 (GRCm38) |
I73F |
probably damaging |
Het |
| Il17ra |
T |
C |
6: 120,473,034 (GRCm38) |
V91A |
probably benign |
Het |
| Inpp5f |
A |
G |
7: 128,679,805 (GRCm38) |
D510G |
probably damaging |
Het |
| Kbtbd3 |
A |
G |
9: 4,331,269 (GRCm38) |
K548E |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 941,515 (GRCm38) |
C1239S |
probably damaging |
Het |
| Mamdc4 |
G |
A |
2: 25,566,356 (GRCm38) |
T709M |
probably benign |
Het |
| Mybbp1a |
T |
A |
11: 72,444,721 (GRCm38) |
Y353N |
probably damaging |
Het |
| Nepn |
A |
T |
10: 52,391,759 (GRCm38) |
E40D |
probably benign |
Het |
| Npat |
G |
T |
9: 53,570,570 (GRCm38) |
E1193* |
probably null |
Het |
| Nrde2 |
G |
A |
12: 100,131,003 (GRCm38) |
S846L |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,225,203 (GRCm38) |
V1290A |
probably benign |
Het |
| Olfr1009 |
T |
A |
2: 85,721,501 (GRCm38) |
L32Q |
probably null |
Het |
| Olfr1424 |
A |
G |
19: 12,059,092 (GRCm38) |
V220A |
probably benign |
Het |
| Olfr517 |
C |
A |
7: 108,868,519 (GRCm38) |
V212L |
probably benign |
Het |
| Pde6a |
A |
T |
18: 61,220,696 (GRCm38) |
K31M |
possibly damaging |
Het |
| Pms2 |
C |
T |
5: 143,914,771 (GRCm38) |
R169C |
probably damaging |
Het |
| Polr2g |
A |
T |
19: 8,798,257 (GRCm38) |
L30Q |
probably damaging |
Het |
| Prdm15 |
T |
A |
16: 97,807,060 (GRCm38) |
H679L |
probably damaging |
Het |
| Prl4a1 |
T |
G |
13: 28,023,386 (GRCm38) |
Y214* |
probably null |
Het |
| Prlr |
C |
T |
15: 10,329,242 (GRCm38) |
T601M |
possibly damaging |
Het |
| Psen2 |
A |
C |
1: 180,245,691 (GRCm38) |
S22A |
probably benign |
Het |
| Ralgapa1 |
C |
A |
12: 55,722,914 (GRCm38) |
R764L |
probably damaging |
Het |
| Scgb2b11 |
T |
C |
7: 32,209,408 (GRCm38) |
E89G |
probably damaging |
Het |
| Serpina10 |
T |
C |
12: 103,628,277 (GRCm38) |
I228V |
probably benign |
Het |
| Serpinb1a |
T |
A |
13: 32,842,999 (GRCm38) |
H320L |
probably damaging |
Het |
| Sesn2 |
C |
A |
4: 132,498,053 (GRCm38) |
Q267H |
possibly damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,251,011 (GRCm38) |
W1019R |
probably damaging |
Het |
| Sqle |
A |
G |
15: 59,321,302 (GRCm38) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,986,829 (GRCm38) |
M39V |
probably benign |
Het |
| Tgm7 |
A |
G |
2: 121,101,064 (GRCm38) |
V206A |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,760,586 (GRCm38) |
|
probably null |
Het |
| Trpv1 |
T |
C |
11: 73,254,251 (GRCm38) |
F721S |
probably damaging |
Het |
| Ttll10 |
A |
T |
4: 156,036,234 (GRCm38) |
M433K |
probably benign |
Het |
| Vmn1r216 |
T |
C |
13: 23,099,525 (GRCm38) |
I126T |
probably benign |
Het |
| Vmn2r108 |
G |
A |
17: 20,470,088 (GRCm38) |
S494F |
probably benign |
Het |
| Vwa3b |
C |
T |
1: 37,128,939 (GRCm38) |
A603V |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,476,866 (GRCm38) |
N19K |
probably damaging |
Het |
| Zfp397 |
T |
A |
18: 23,960,722 (GRCm38) |
N421K |
probably damaging |
Het |
| Zscan5b |
C |
T |
7: 6,233,947 (GRCm38) |
P232S |
possibly damaging |
Het |
|
| Other mutations in Hnrnpr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Hnrnpr
|
APN |
4 |
136,339,545 (GRCm38) |
missense |
unknown |
|
|
IGL00844:Hnrnpr
|
APN |
4 |
136,339,205 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL01374:Hnrnpr
|
APN |
4 |
136,327,418 (GRCm38) |
splice site |
probably benign |
|
|
IGL01704:Hnrnpr
|
APN |
4 |
136,329,381 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL01825:Hnrnpr
|
APN |
4 |
136,339,539 (GRCm38) |
nonsense |
probably null |
|
|
IGL01843:Hnrnpr
|
APN |
4 |
136,339,413 (GRCm38) |
splice site |
probably benign |
|
|
IGL01871:Hnrnpr
|
APN |
4 |
136,339,574 (GRCm38) |
missense |
unknown |
|
|
IGL02376:Hnrnpr
|
APN |
4 |
136,319,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02557:Hnrnpr
|
APN |
4 |
136,319,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02947:Hnrnpr
|
APN |
4 |
136,316,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4677001:Hnrnpr
|
UTSW |
4 |
136,329,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0142:Hnrnpr
|
UTSW |
4 |
136,327,282 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0219:Hnrnpr
|
UTSW |
4 |
136,339,163 (GRCm38) |
splice site |
probably benign |
|
|
R1459:Hnrnpr
|
UTSW |
4 |
136,329,444 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1917:Hnrnpr
|
UTSW |
4 |
136,332,488 (GRCm38) |
nonsense |
probably null |
|
|
R2007:Hnrnpr
|
UTSW |
4 |
136,319,513 (GRCm38) |
unclassified |
probably benign |
|
|
R2364:Hnrnpr
|
UTSW |
4 |
136,327,329 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R3788:Hnrnpr
|
UTSW |
4 |
136,336,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4066:Hnrnpr
|
UTSW |
4 |
136,339,346 (GRCm38) |
intron |
probably benign |
|
|
R4232:Hnrnpr
|
UTSW |
4 |
136,339,189 (GRCm38) |
missense |
probably benign |
0.15 |
|
R4433:Hnrnpr
|
UTSW |
4 |
136,317,148 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4664:Hnrnpr
|
UTSW |
4 |
136,317,175 (GRCm38) |
unclassified |
probably benign |
|
|
R4990:Hnrnpr
|
UTSW |
4 |
136,336,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4990:Hnrnpr
|
UTSW |
4 |
136,329,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5058:Hnrnpr
|
UTSW |
4 |
136,336,337 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5328:Hnrnpr
|
UTSW |
4 |
136,339,216 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5469:Hnrnpr
|
UTSW |
4 |
136,319,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5641:Hnrnpr
|
UTSW |
4 |
136,332,487 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7067:Hnrnpr
|
UTSW |
4 |
136,327,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7250:Hnrnpr
|
UTSW |
4 |
136,332,435 (GRCm38) |
missense |
probably benign |
0.45 |
|
R7254:Hnrnpr
|
UTSW |
4 |
136,332,575 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8942:Hnrnpr
|
UTSW |
4 |
136,332,480 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9008:Hnrnpr
|
UTSW |
4 |
136,329,426 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9502:Hnrnpr
|
UTSW |
4 |
136,329,370 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9515:Hnrnpr
|
UTSW |
4 |
136,336,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9516:Hnrnpr
|
UTSW |
4 |
136,336,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTTACTGTCTGCTCCAGC -3'
(R):5'- TTAGAATACCACAGCTCTTCCCTAAG -3'
Sequencing Primer
(F):5'- CCTCAGGCATGTCAAAGTATTTG -3'
(R):5'- CCAGGCCAGTTTGAGCTACATAATG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation