Incidental Mutation 'R7338:Prr36'
| ID |
569647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr36
|
| Ensembl Gene |
ENSMUSG00000064125 |
| Gene Name |
proline rich 36 |
| Synonyms |
BC068157 |
| MMRRC Submission |
045428-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R7338 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
4259543-4267459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4266212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 113
(R113C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168386]
[ENSMUST00000175906]
[ENSMUST00000176227]
[ENSMUST00000177491]
|
| AlphaFold |
E9PV26 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000168386
AA Change: R113C
|
| SMART Domains |
Protein: ENSMUSP00000133114
Gene: ENSMUSG00000064125
AA Change: R113C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
63 |
82 |
5.9e-10 |
PROSPERO |
|
internal_repeat_1
|
87 |
106 |
5.9e-10 |
PROSPERO |
|
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
567 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
755 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1045 |
N/A |
INTRINSIC |
|
Pfam:DUF4596
|
1053 |
1098 |
4.1e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175906
AA Change: R113C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135713
Gene: ENSMUSG00000064125
AA Change: R113C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
63 |
82 |
5.38e-8 |
PROSPERO |
|
internal_repeat_1
|
87 |
106 |
5.38e-8 |
PROSPERO |
|
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176227
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176645
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177491
AA Change: R113C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135130
Gene: ENSMUSG00000064125
AA Change: R113C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
63 |
82 |
1.65e-6 |
PROSPERO |
|
internal_repeat_1
|
87 |
106 |
1.65e-6 |
PROSPERO |
|
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein of unknown function that contains internal regions of low complexity sequence. Alternative splicing results in multiple transcript variants. The transcript structure of the protein-coding variant at this locus is conserved between human and mouse. [provided by RefSeq, Oct 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,595,717 (GRCm39) |
S357P |
possibly damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,203,106 (GRCm39) |
R166G |
probably damaging |
Het |
| Bcan |
T |
A |
3: 87,901,550 (GRCm39) |
E384V |
probably damaging |
Het |
| Bcl9l |
A |
G |
9: 44,420,005 (GRCm39) |
N1137S |
probably benign |
Het |
| Caprin1 |
A |
G |
2: 103,609,768 (GRCm39) |
L170S |
probably benign |
Het |
| Card6 |
C |
T |
15: 5,129,354 (GRCm39) |
E681K |
probably benign |
Het |
| Catsperb |
G |
A |
12: 101,447,243 (GRCm39) |
V248I |
probably benign |
Het |
| Ccnj |
T |
A |
19: 40,825,477 (GRCm39) |
H62Q |
probably damaging |
Het |
| Cd180 |
A |
C |
13: 102,842,936 (GRCm39) |
I661L |
probably benign |
Het |
| Cdk11b |
A |
G |
4: 155,732,008 (GRCm39) |
R473G |
unknown |
Het |
| Cep126 |
T |
C |
9: 8,099,799 (GRCm39) |
T912A |
possibly damaging |
Het |
| Chek2 |
T |
A |
5: 111,021,380 (GRCm39) |
V530E |
probably benign |
Het |
| Chga |
G |
T |
12: 102,529,100 (GRCm39) |
S359I |
probably damaging |
Het |
| Cnrip1 |
T |
C |
11: 17,004,657 (GRCm39) |
V69A |
probably damaging |
Het |
| Cyp2a5 |
A |
T |
7: 26,542,372 (GRCm39) |
Q458L |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,195,524 (GRCm39) |
T391S |
possibly damaging |
Het |
| Dhx16 |
T |
C |
17: 36,199,036 (GRCm39) |
L794P |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,585,802 (GRCm39) |
T580A |
probably benign |
Het |
| Elmo1 |
A |
T |
13: 20,464,982 (GRCm39) |
I184L |
probably benign |
Het |
| Gabra1 |
C |
T |
11: 42,073,121 (GRCm39) |
G51S |
unknown |
Het |
| Gabrr3 |
C |
A |
16: 59,268,439 (GRCm39) |
L351I |
possibly damaging |
Het |
| Gbp7 |
A |
T |
3: 142,243,786 (GRCm39) |
N111I |
probably damaging |
Het |
| Gjd2 |
C |
T |
2: 113,841,583 (GRCm39) |
R298H |
probably damaging |
Het |
| Gm5930 |
T |
C |
14: 44,573,914 (GRCm39) |
Y141C |
probably damaging |
Het |
| Grin3a |
G |
T |
4: 49,771,238 (GRCm39) |
N511K |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,707,903 (GRCm39) |
D122G |
probably benign |
Het |
| Ifi204 |
G |
A |
1: 173,587,703 (GRCm39) |
T152I |
possibly damaging |
Het |
| Lrrc9 |
C |
T |
12: 72,510,305 (GRCm39) |
|
probably null |
Het |
| Med21 |
T |
A |
6: 146,544,082 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
A |
T |
10: 128,634,952 (GRCm39) |
T523S |
probably benign |
Het |
| Nav3 |
G |
A |
10: 109,605,073 (GRCm39) |
T1000I |
probably benign |
Het |
| Nherf2 |
T |
A |
17: 24,869,182 (GRCm39) |
|
probably benign |
Het |
| Nin |
T |
C |
12: 70,090,838 (GRCm39) |
D859G |
|
Het |
| Nip7 |
T |
G |
8: 107,783,916 (GRCm39) |
L52R |
possibly damaging |
Het |
| Or10d1c |
A |
G |
9: 38,893,816 (GRCm39) |
Y175H |
probably damaging |
Het |
| Or5al5 |
A |
T |
2: 85,961,726 (GRCm39) |
F94I |
probably damaging |
Het |
| Or6b13 |
A |
T |
7: 139,782,446 (GRCm39) |
V79E |
probably benign |
Het |
| Otop1 |
T |
A |
5: 38,457,547 (GRCm39) |
Y435* |
probably null |
Het |
| Pak4 |
A |
G |
7: 28,264,381 (GRCm39) |
S174P |
probably benign |
Het |
| Pcsk7 |
G |
A |
9: 45,837,287 (GRCm39) |
R537Q |
probably benign |
Het |
| Podxl |
G |
A |
6: 31,505,941 (GRCm39) |
S34F |
unknown |
Het |
| Ptk7 |
T |
C |
17: 46,890,525 (GRCm39) |
I436V |
probably benign |
Het |
| Slc13a5 |
C |
T |
11: 72,157,310 (GRCm39) |
V28I |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,349,097 (GRCm39) |
D56V |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,885,858 (GRCm39) |
R2317W |
probably damaging |
Het |
| Stom |
T |
A |
2: 35,213,760 (GRCm39) |
|
probably null |
Het |
| Svs5 |
T |
C |
2: 164,174,728 (GRCm39) |
L8P |
possibly damaging |
Het |
| Tmem141 |
C |
A |
2: 25,511,626 (GRCm39) |
V39F |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,344,019 (GRCm39) |
L181P |
probably damaging |
Het |
| Tnni3 |
A |
G |
7: 4,524,379 (GRCm39) |
S40P |
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,024,465 (GRCm39) |
I548V |
probably benign |
Het |
| Twf2 |
A |
G |
9: 106,081,138 (GRCm39) |
|
probably benign |
Het |
| Wnt5b |
C |
A |
6: 119,425,092 (GRCm39) |
|
probably null |
Het |
| Wrap73 |
A |
G |
4: 154,237,043 (GRCm39) |
D210G |
probably benign |
Het |
| Yipf4 |
T |
G |
17: 74,796,771 (GRCm39) |
S21A |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,481,943 (GRCm39) |
M573T |
probably benign |
Het |
|
| Other mutations in Prr36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01410:Prr36
|
APN |
8 |
4,266,230 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01535:Prr36
|
APN |
8 |
4,264,043 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01658:Prr36
|
APN |
8 |
4,265,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01710:Prr36
|
APN |
8 |
4,265,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01712:Prr36
|
APN |
8 |
4,265,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01713:Prr36
|
APN |
8 |
4,265,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01892:Prr36
|
APN |
8 |
4,265,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01893:Prr36
|
APN |
8 |
4,265,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02496:Prr36
|
APN |
8 |
4,266,407 (GRCm39) |
nonsense |
probably null |
|
|
IGL02829:Prr36
|
APN |
8 |
4,265,278 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0479:Prr36
|
UTSW |
8 |
4,263,930 (GRCm39) |
nonsense |
probably null |
|
|
R0667:Prr36
|
UTSW |
8 |
4,266,311 (GRCm39) |
unclassified |
probably benign |
|
|
R0784:Prr36
|
UTSW |
8 |
4,263,771 (GRCm39) |
unclassified |
probably benign |
|
|
R1737:Prr36
|
UTSW |
8 |
4,264,370 (GRCm39) |
unclassified |
probably benign |
|
|
R2017:Prr36
|
UTSW |
8 |
4,265,205 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2032:Prr36
|
UTSW |
8 |
4,264,304 (GRCm39) |
unclassified |
probably benign |
|
|
R2430:Prr36
|
UTSW |
8 |
4,263,488 (GRCm39) |
unclassified |
probably benign |
|
|
R4160:Prr36
|
UTSW |
8 |
4,262,910 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4184:Prr36
|
UTSW |
8 |
4,263,409 (GRCm39) |
unclassified |
probably benign |
|
|
R4393:Prr36
|
UTSW |
8 |
4,264,901 (GRCm39) |
unclassified |
probably benign |
|
|
R4887:Prr36
|
UTSW |
8 |
4,260,881 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5508:Prr36
|
UTSW |
8 |
4,266,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5628:Prr36
|
UTSW |
8 |
4,266,273 (GRCm39) |
small deletion |
probably benign |
|
|
R6189:Prr36
|
UTSW |
8 |
4,264,177 (GRCm39) |
unclassified |
probably benign |
|
|
R6277:Prr36
|
UTSW |
8 |
4,264,746 (GRCm39) |
unclassified |
probably benign |
|
|
R7185:Prr36
|
UTSW |
8 |
4,266,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7286:Prr36
|
UTSW |
8 |
4,265,163 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7604:Prr36
|
UTSW |
8 |
4,264,836 (GRCm39) |
missense |
unknown |
|
|
R7621:Prr36
|
UTSW |
8 |
4,263,150 (GRCm39) |
missense |
unknown |
|
|
R7699:Prr36
|
UTSW |
8 |
4,263,989 (GRCm39) |
missense |
unknown |
|
|
R7703:Prr36
|
UTSW |
8 |
4,262,982 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7842:Prr36
|
UTSW |
8 |
4,260,953 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7853:Prr36
|
UTSW |
8 |
4,263,905 (GRCm39) |
missense |
unknown |
|
|
R8325:Prr36
|
UTSW |
8 |
4,262,982 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8340:Prr36
|
UTSW |
8 |
4,264,224 (GRCm39) |
missense |
unknown |
|
|
R8353:Prr36
|
UTSW |
8 |
4,263,831 (GRCm39) |
unclassified |
probably benign |
|
|
R8777-TAIL:Prr36
|
UTSW |
8 |
4,266,273 (GRCm39) |
small deletion |
probably benign |
|
|
R9498:Prr36
|
UTSW |
8 |
4,263,291 (GRCm39) |
missense |
unknown |
|
|
R9502:Prr36
|
UTSW |
8 |
4,264,775 (GRCm39) |
missense |
unknown |
|
|
R9757:Prr36
|
UTSW |
8 |
4,260,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF044:Prr36
|
UTSW |
8 |
4,266,273 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAAATAGAGCCCTGGCCAG -3'
(R):5'- TCTTGGAAGCAAACGGAGC -3'
Sequencing Primer
(F):5'- CTGGCCAGGGGTCTTCATAG -3'
(R):5'- AGCTATGGGGCGAAGGTCC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation