Incidental Mutation 'R7979:Cr1l'
| ID |
651060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cr1l
|
| Ensembl Gene |
ENSMUSG00000016481 |
| Gene Name |
complement C3b/C4b receptor 1 like |
| Synonyms |
Crry, mCRY |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7979 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
194781019-194813878 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 194800030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 215
(T215A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075451]
[ENSMUST00000191775]
[ENSMUST00000193094]
[ENSMUST00000194062]
[ENSMUST00000194111]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075451
AA Change: T215A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074902
Gene: ENSMUSG00000016481
AA Change: T215A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
|
CCP
|
42 |
98 |
3.51e-6 |
SMART |
|
CCP
|
103 |
160 |
1.61e-14 |
SMART |
|
CCP
|
165 |
231 |
7.92e-14 |
SMART |
|
CCP
|
237 |
293 |
5.23e-14 |
SMART |
|
CCP
|
299 |
355 |
6.69e-12 |
SMART |
|
transmembrane domain
|
364 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191775
AA Change: T155A
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141250
Gene: ENSMUSG00000016481
AA Change: T155A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sushi
|
1 |
38 |
9e-6 |
PFAM |
|
CCP
|
43 |
100 |
8e-17 |
SMART |
|
CCP
|
105 |
171 |
3.9e-16 |
SMART |
|
CCP
|
177 |
233 |
2.6e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193094
AA Change: T215A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142309
Gene: ENSMUSG00000016481
AA Change: T215A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
CCP
|
42 |
98 |
1.7e-8 |
SMART |
|
CCP
|
103 |
160 |
8e-17 |
SMART |
|
CCP
|
165 |
231 |
3.9e-16 |
SMART |
|
CCP
|
237 |
293 |
2.6e-16 |
SMART |
|
CCP
|
299 |
355 |
3.3e-14 |
SMART |
|
transmembrane domain
|
364 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194062
|
| SMART Domains |
Protein: ENSMUSP00000142104
Gene: ENSMUSG00000016481
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
1 |
52 |
2.9e-9 |
SMART |
|
CCP
|
58 |
114 |
3.3e-14 |
SMART |
|
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194111
AA Change: T177A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142069
Gene: ENSMUSG00000016481
AA Change: T177A
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
4 |
60 |
1.7e-8 |
SMART |
|
CCP
|
65 |
122 |
8e-17 |
SMART |
|
CCP
|
127 |
193 |
3.9e-16 |
SMART |
|
CCP
|
199 |
255 |
2.6e-16 |
SMART |
|
CCP
|
261 |
317 |
3.3e-14 |
SMART |
|
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele die by E16.5 with abnormal C3 deposition. Mice homozygous for a null allele activated in single positive thymocytes exhibit T cell lymphopenia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
T |
5: 8,186,804 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
T |
19: 8,988,796 (GRCm39) |
D3360V |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,100,381 (GRCm39) |
L2681P |
probably benign |
Het |
| Ankrd52 |
C |
A |
10: 128,217,857 (GRCm39) |
A279E |
probably damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,760,978 (GRCm39) |
L78P |
unknown |
Het |
| Cfap300 |
T |
A |
9: 8,027,111 (GRCm39) |
E142D |
possibly damaging |
Het |
| Chpf |
A |
T |
1: 75,453,904 (GRCm39) |
C291* |
probably null |
Het |
| Ctc1 |
A |
T |
11: 68,918,209 (GRCm39) |
K444* |
probably null |
Het |
| Dscaml1 |
T |
C |
9: 45,595,029 (GRCm39) |
S711P |
probably damaging |
Het |
| Elavl4 |
A |
T |
4: 110,068,845 (GRCm39) |
V176D |
probably benign |
Het |
| Faim2 |
A |
G |
15: 99,408,515 (GRCm39) |
V251A |
possibly damaging |
Het |
| Fancg |
A |
G |
4: 43,004,963 (GRCm39) |
I410T |
probably damaging |
Het |
| Frmd3 |
G |
A |
4: 74,071,852 (GRCm39) |
V245I |
probably damaging |
Het |
| Gls |
T |
C |
1: 52,230,271 (GRCm39) |
H480R |
probably damaging |
Het |
| Gm30191 |
A |
G |
4: 133,977,223 (GRCm39) |
D145G |
possibly damaging |
Het |
| Grik2 |
T |
C |
10: 49,280,438 (GRCm39) |
I438V |
probably benign |
Het |
| Klhl3 |
G |
T |
13: 58,211,611 (GRCm39) |
Q197K |
probably benign |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Mmp23 |
G |
A |
4: 155,736,462 (GRCm39) |
T193I |
possibly damaging |
Het |
| Mmrn1 |
T |
C |
6: 60,952,961 (GRCm39) |
V414A |
probably damaging |
Het |
| Mmrn2 |
C |
T |
14: 34,118,138 (GRCm39) |
Q61* |
probably null |
Het |
| Mprip |
G |
A |
11: 59,657,682 (GRCm39) |
R852H |
probably damaging |
Het |
| Nars2 |
A |
C |
7: 96,711,868 (GRCm39) |
N461T |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,690,986 (GRCm39) |
N124S |
probably null |
Het |
| Or1e17 |
G |
T |
11: 73,831,401 (GRCm39) |
V110F |
probably benign |
Het |
| Or1j17 |
A |
G |
2: 36,578,106 (GRCm39) |
I31V |
probably benign |
Het |
| Peak1 |
T |
A |
9: 56,114,676 (GRCm39) |
N1422Y |
possibly damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
G |
A |
15: 98,026,117 (GRCm39) |
E571K |
probably damaging |
Het |
| Ptpn2 |
A |
T |
18: 67,814,641 (GRCm39) |
C123S |
possibly damaging |
Het |
| Raph1 |
G |
A |
1: 60,565,148 (GRCm39) |
T113I |
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,334,920 (GRCm39) |
E1351G |
|
Het |
| Serinc4 |
C |
T |
2: 121,285,793 (GRCm39) |
V163I |
probably benign |
Het |
| Slc7a2 |
G |
T |
8: 41,357,541 (GRCm39) |
G270C |
probably damaging |
Het |
| Smc2 |
G |
A |
4: 52,450,857 (GRCm39) |
R225Q |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,601 (GRCm39) |
S144P |
probably damaging |
Het |
| Tcl1b4 |
A |
T |
12: 105,168,865 (GRCm39) |
H43L |
probably benign |
Het |
| Tmem156 |
T |
C |
5: 65,237,352 (GRCm39) |
T103A |
possibly damaging |
Het |
| Tns3 |
A |
T |
11: 8,442,701 (GRCm39) |
M554K |
probably benign |
Het |
| Tpp2 |
A |
T |
1: 43,979,297 (GRCm39) |
I65F |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,206,967 (GRCm39) |
M1700K |
probably benign |
Het |
| Ttc39c |
T |
A |
18: 12,866,022 (GRCm39) |
H473Q |
probably benign |
Het |
| Vmn2r68 |
A |
C |
7: 84,883,625 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
T |
C |
6: 120,014,409 (GRCm39) |
D62G |
probably damaging |
Het |
| Wnk2 |
A |
T |
13: 49,248,884 (GRCm39) |
M389K |
probably damaging |
Het |
| Zfp292 |
G |
A |
4: 34,809,198 (GRCm39) |
T1287M |
probably benign |
Het |
| Zfp451 |
G |
A |
1: 33,821,219 (GRCm39) |
S211L |
probably benign |
Het |
| Zfp710 |
T |
C |
7: 79,738,327 (GRCm39) |
S626P |
unknown |
Het |
| Zfp787 |
C |
T |
7: 6,146,094 (GRCm39) |
E16K |
probably damaging |
Het |
| Zfp788 |
G |
T |
7: 41,284,324 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cr1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01615:Cr1l
|
APN |
1 |
194,812,189 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01988:Cr1l
|
APN |
1 |
194,799,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02412:Cr1l
|
APN |
1 |
194,797,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02412:Cr1l
|
APN |
1 |
194,797,080 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02707:Cr1l
|
APN |
1 |
194,806,019 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02726:Cr1l
|
APN |
1 |
194,812,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Cr1l
|
UTSW |
1 |
194,794,720 (GRCm39) |
splice site |
probably benign |
|
|
R0153:Cr1l
|
UTSW |
1 |
194,797,164 (GRCm39) |
splice site |
probably benign |
|
|
R0302:Cr1l
|
UTSW |
1 |
194,800,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1444:Cr1l
|
UTSW |
1 |
194,813,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1760:Cr1l
|
UTSW |
1 |
194,797,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2402:Cr1l
|
UTSW |
1 |
194,789,210 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4583:Cr1l
|
UTSW |
1 |
194,812,139 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5977:Cr1l
|
UTSW |
1 |
194,797,076 (GRCm39) |
nonsense |
probably null |
|
|
R6113:Cr1l
|
UTSW |
1 |
194,813,719 (GRCm39) |
unclassified |
probably benign |
|
|
R6324:Cr1l
|
UTSW |
1 |
194,793,430 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6424:Cr1l
|
UTSW |
1 |
194,800,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Cr1l
|
UTSW |
1 |
194,806,006 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7174:Cr1l
|
UTSW |
1 |
194,811,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7199:Cr1l
|
UTSW |
1 |
194,799,878 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8104:Cr1l
|
UTSW |
1 |
194,799,925 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8958:Cr1l
|
UTSW |
1 |
194,812,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:Cr1l
|
UTSW |
1 |
194,789,204 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9124:Cr1l
|
UTSW |
1 |
194,799,925 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9185:Cr1l
|
UTSW |
1 |
194,797,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9199:Cr1l
|
UTSW |
1 |
194,786,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9265:Cr1l
|
UTSW |
1 |
194,806,027 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9270:Cr1l
|
UTSW |
1 |
194,789,204 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9681:Cr1l
|
UTSW |
1 |
194,800,149 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0020:Cr1l
|
UTSW |
1 |
194,812,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGCTTGGTAACTCTGGC -3'
(R):5'- TTTGCCCAGGGATTCCTTG -3'
Sequencing Primer
(F):5'- GCTCCTTTCATGATAAAGCCAGGG -3'
(R):5'- CCCAGGGATTCCTTGTGAGATAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation