Incidental Mutation 'R6935:Crip2'
| ID |
540265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crip2
|
| Ensembl Gene |
ENSMUSG00000006356 |
| Gene Name |
cysteine rich protein 2 |
| Synonyms |
Hlp, 0610010I23Rik, ESP1, Crp, CRP4 |
| MMRRC Submission |
045008-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6935 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
113103856-113109126 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113104213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 8
(C8R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009099]
[ENSMUST00000069690]
[ENSMUST00000084882]
[ENSMUST00000109723]
[ENSMUST00000109726]
[ENSMUST00000109727]
[ENSMUST00000196015]
[ENSMUST00000200380]
|
| AlphaFold |
Q9DCT8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009099
|
| SMART Domains |
Protein: ENSMUSP00000009099
Gene: ENSMUSG00000021144
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
164 |
1.85e-30 |
SMART |
|
ELM2
|
167 |
221 |
2.36e-13 |
SMART |
|
SANT
|
284 |
333 |
2.62e-8 |
SMART |
|
ZnF_GATA
|
387 |
441 |
2.6e-16 |
SMART |
|
low complexity region
|
545 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
705 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069690
|
| SMART Domains |
Protein: ENSMUSP00000064338
Gene: ENSMUSG00000021144
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
147 |
2.7e-32 |
SMART |
|
ELM2
|
150 |
204 |
2.36e-13 |
SMART |
|
SANT
|
267 |
316 |
2.62e-8 |
SMART |
|
ZnF_GATA
|
370 |
424 |
2.6e-16 |
SMART |
|
low complexity region
|
528 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
688 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084882
AA Change: C8R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081943
Gene: ENSMUSG00000006356
AA Change: C8R
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
4 |
56 |
2.08e-12 |
SMART |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
LIM
|
125 |
177 |
6.05e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109723
|
| SMART Domains |
Protein: ENSMUSP00000105345
Gene: ENSMUSG00000021144
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
164 |
1.85e-30 |
SMART |
|
ELM2
|
167 |
221 |
2.36e-13 |
SMART |
|
SANT
|
284 |
333 |
2.62e-8 |
SMART |
|
ZnF_GATA
|
387 |
441 |
2.6e-16 |
SMART |
|
low complexity region
|
545 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
683 |
693 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109726
|
| SMART Domains |
Protein: ENSMUSP00000105348
Gene: ENSMUSG00000021144
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
147 |
2.7e-32 |
SMART |
|
ELM2
|
150 |
204 |
2.36e-13 |
SMART |
|
SANT
|
267 |
316 |
2.62e-8 |
SMART |
|
ZnF_GATA
|
370 |
424 |
2.6e-16 |
SMART |
|
low complexity region
|
528 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
688 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109727
|
| SMART Domains |
Protein: ENSMUSP00000105349
Gene: ENSMUSG00000021144
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
164 |
1.85e-30 |
SMART |
|
ELM2
|
167 |
221 |
2.36e-13 |
SMART |
|
SANT
|
284 |
333 |
2.62e-8 |
SMART |
|
ZnF_GATA
|
387 |
441 |
2.6e-16 |
SMART |
|
low complexity region
|
545 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
683 |
693 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196015
|
| SMART Domains |
Protein: ENSMUSP00000143009
Gene: ENSMUSG00000006356
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
1 |
53 |
3e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200380
|
| SMART Domains |
Protein: ENSMUSP00000143334
Gene: ENSMUSG00000006356
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
1 |
53 |
3e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.8277 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display abnormal inflammatory pain responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
A |
14: 35,533,864 (GRCm39) |
H14L |
probably benign |
Het |
| Adar |
A |
G |
3: 89,654,525 (GRCm39) |
N368D |
probably benign |
Het |
| Adcy10 |
T |
C |
1: 165,334,204 (GRCm39) |
V71A |
probably benign |
Het |
| Ank1 |
C |
T |
8: 23,598,247 (GRCm39) |
T755I |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,885,161 (GRCm39) |
Y632F |
probably damaging |
Het |
| Bbc3 |
A |
G |
7: 16,046,124 (GRCm39) |
D20G |
possibly damaging |
Het |
| Bche |
T |
G |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
| Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
A |
G |
9: 79,607,782 (GRCm39) |
Y349H |
possibly damaging |
Het |
| Dhx58 |
T |
A |
11: 100,589,232 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
A |
11: 69,312,567 (GRCm39) |
R4333C |
probably damaging |
Het |
| Dnajb12 |
T |
C |
10: 59,732,325 (GRCm39) |
|
probably null |
Het |
| Dzank1 |
T |
C |
2: 144,318,014 (GRCm39) |
E718G |
possibly damaging |
Het |
| Erfl |
C |
A |
7: 24,627,986 (GRCm39) |
G181V |
possibly damaging |
Het |
| Fbxo28 |
C |
T |
1: 182,169,025 (GRCm39) |
G38R |
unknown |
Het |
| Foxb2 |
A |
G |
19: 16,849,983 (GRCm39) |
F341S |
probably benign |
Het |
| Gabrb3 |
T |
A |
7: 57,241,561 (GRCm39) |
I29N |
probably damaging |
Het |
| Gm7298 |
G |
A |
6: 121,744,653 (GRCm39) |
R557H |
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,634,659 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Lingo1 |
T |
C |
9: 56,527,149 (GRCm39) |
Y480C |
probably damaging |
Het |
| Lypd3 |
G |
C |
7: 24,337,858 (GRCm39) |
G75R |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,169,824 (GRCm39) |
Y113C |
probably damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,340,087 (GRCm39) |
P1453S |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,774,041 (GRCm39) |
F5551V |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,619,820 (GRCm39) |
M1457K |
probably benign |
Het |
| Nbeal2 |
T |
A |
9: 110,468,459 (GRCm39) |
E372V |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,323,879 (GRCm39) |
S508T |
probably benign |
Het |
| Nebl |
A |
T |
2: 17,353,637 (GRCm39) |
D971E |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,526,107 (GRCm39) |
M77K |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,321,825 (GRCm39) |
N174S |
probably damaging |
Het |
| Or52ad1 |
A |
T |
7: 102,996,002 (GRCm39) |
N44K |
probably damaging |
Het |
| Or8c18 |
G |
T |
9: 38,203,413 (GRCm39) |
M57I |
probably benign |
Het |
| Pidd1 |
A |
T |
7: 141,020,215 (GRCm39) |
D570E |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 45,001,631 (GRCm39) |
D427G |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,441,575 (GRCm39) |
Y364C |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,319,388 (GRCm39) |
S142G |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,694,322 (GRCm39) |
V174A |
probably damaging |
Het |
| Rhbdl3 |
C |
T |
11: 80,228,322 (GRCm39) |
A264V |
probably damaging |
Het |
| Sh3bp5 |
T |
A |
14: 31,101,473 (GRCm39) |
M170L |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,799,793 (GRCm39) |
F125L |
possibly damaging |
Het |
| Slc6a4 |
T |
C |
11: 76,917,994 (GRCm39) |
Y579H |
probably benign |
Het |
| Tmem106b |
A |
T |
6: 13,081,554 (GRCm39) |
T154S |
possibly damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,382,189 (GRCm39) |
D455G |
possibly damaging |
Het |
|
| Other mutations in Crip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03035:Crip2
|
APN |
12 |
113,107,745 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0732:Crip2
|
UTSW |
12 |
113,104,178 (GRCm39) |
unclassified |
probably benign |
|
|
R1111:Crip2
|
UTSW |
12 |
113,107,694 (GRCm39) |
nonsense |
probably null |
|
|
R1186:Crip2
|
UTSW |
12 |
113,108,579 (GRCm39) |
splice site |
probably benign |
|
|
R1445:Crip2
|
UTSW |
12 |
113,107,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Crip2
|
UTSW |
12 |
113,107,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1541:Crip2
|
UTSW |
12 |
113,108,586 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2270:Crip2
|
UTSW |
12 |
113,108,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4852:Crip2
|
UTSW |
12 |
113,104,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7461:Crip2
|
UTSW |
12 |
113,107,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7613:Crip2
|
UTSW |
12 |
113,107,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9036:Crip2
|
UTSW |
12 |
113,108,030 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCACTATGTGGCCATGGAATC -3'
(R):5'- TAGCACTACCTTCGAGCCTC -3'
Sequencing Primer
(F):5'- CTATGTGGCCATGGAATCCTCGG -3'
(R):5'- TTAGCTACCGATCGGATC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation