Incidental Mutation 'R1748:Ccser2'
| ID |
194149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccser2
|
| Ensembl Gene |
ENSMUSG00000058690 |
| Gene Name |
coiled-coil serine rich 2 |
| Synonyms |
2900054P12Rik, 1700012P13Rik, Gcap14 |
| MMRRC Submission |
039780-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R1748 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
36596893-36690734 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 36618271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 123
(K123*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067700]
[ENSMUST00000090024]
[ENSMUST00000182042]
[ENSMUST00000182576]
[ENSMUST00000182797]
[ENSMUST00000183007]
[ENSMUST00000183038]
[ENSMUST00000183316]
|
| AlphaFold |
Q3UHI0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067700
AA Change: K755*
|
| SMART Domains |
Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690
AA Change: K755*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
coiled coil region
|
157 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000090024
AA Change: K755*
|
| SMART Domains |
Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690
AA Change: K755*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
389 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
603 |
616 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
coiled coil region
|
710 |
747 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182042
AA Change: K183*
|
| SMART Domains |
Protein: ENSMUSP00000138453
Gene: ENSMUSG00000058690
AA Change: K183*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
|
coiled coil region
|
138 |
175 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182576
|
| SMART Domains |
Protein: ENSMUSP00000138318
Gene: ENSMUSG00000058690
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
57 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182635
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182797
AA Change: K183*
|
| SMART Domains |
Protein: ENSMUSP00000138787
Gene: ENSMUSG00000058690
AA Change: K183*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
|
coiled coil region
|
138 |
175 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183007
AA Change: K92*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183038
AA Change: K202*
|
| SMART Domains |
Protein: ENSMUSP00000138718
Gene: ENSMUSG00000058690
AA Change: K202*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
coiled coil region
|
157 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183316
AA Change: K123*
|
| SMART Domains |
Protein: ENSMUSP00000138100
Gene: ENSMUSG00000058690
AA Change: K123*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
coiled coil region
|
78 |
115 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
T |
16: 20,152,338 (GRCm39) |
Q1403K |
probably benign |
Het |
| Adamts12 |
G |
A |
15: 11,241,548 (GRCm39) |
M373I |
probably damaging |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Aire |
T |
C |
10: 77,879,314 (GRCm39) |
H15R |
probably damaging |
Het |
| Aldh3b2 |
T |
C |
19: 4,027,572 (GRCm39) |
F38L |
probably damaging |
Het |
| Alk |
A |
C |
17: 72,910,416 (GRCm39) |
C97G |
probably benign |
Het |
| Ano8 |
T |
C |
8: 71,931,602 (GRCm39) |
|
probably benign |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arsk |
T |
A |
13: 76,210,529 (GRCm39) |
H506L |
probably benign |
Het |
| Asgr2 |
G |
T |
11: 69,987,658 (GRCm39) |
R52L |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,058,780 (GRCm39) |
I145T |
possibly damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,703,134 (GRCm39) |
T1051A |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,362,315 (GRCm39) |
V424D |
possibly damaging |
Het |
| Capn3 |
T |
C |
2: 120,327,494 (GRCm39) |
V574A |
probably benign |
Het |
| Capzb |
C |
A |
4: 138,984,679 (GRCm39) |
D67E |
probably damaging |
Het |
| Ccdc68 |
A |
T |
18: 70,089,062 (GRCm39) |
T202S |
probably benign |
Het |
| Ces2h |
T |
C |
8: 105,744,473 (GRCm39) |
I316T |
probably benign |
Het |
| Chd3 |
T |
G |
11: 69,255,523 (GRCm39) |
K122Q |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,580,279 (GRCm39) |
T1533A |
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,838,213 (GRCm39) |
K1084* |
probably null |
Het |
| Ddx28 |
A |
G |
8: 106,737,314 (GRCm39) |
L248P |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,075,286 (GRCm39) |
E488G |
probably benign |
Het |
| Dld |
T |
C |
12: 31,384,745 (GRCm39) |
T305A |
probably benign |
Het |
| Dok5 |
T |
A |
2: 170,683,373 (GRCm39) |
F211L |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,117,532 (GRCm39) |
D934G |
probably benign |
Het |
| Eif3a |
G |
A |
19: 60,755,236 (GRCm39) |
T982I |
unknown |
Het |
| Erbb2 |
G |
T |
11: 98,326,161 (GRCm39) |
R979L |
probably benign |
Het |
| Espl1 |
G |
T |
15: 102,206,964 (GRCm39) |
V143L |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,080,236 (GRCm39) |
L598P |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,147,473 (GRCm39) |
E3923V |
probably damaging |
Het |
| Fhod3 |
A |
T |
18: 24,903,550 (GRCm39) |
K95* |
probably null |
Het |
| Gpr108 |
G |
T |
17: 57,543,217 (GRCm39) |
T484K |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,340,238 (GRCm39) |
N351I |
possibly damaging |
Het |
| Hepacam |
A |
T |
9: 37,295,189 (GRCm39) |
N308I |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,798,571 (GRCm39) |
|
probably null |
Het |
| Hltf |
T |
C |
3: 20,130,685 (GRCm39) |
I301T |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,226,514 (GRCm39) |
N2386K |
probably damaging |
Het |
| Ikbke |
G |
T |
1: 131,186,937 (GRCm39) |
T585K |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 88,021,287 (GRCm39) |
T448A |
possibly damaging |
Het |
| Kl |
T |
C |
5: 150,904,450 (GRCm39) |
S401P |
possibly damaging |
Het |
| Lama4 |
T |
C |
10: 38,941,615 (GRCm39) |
V684A |
probably benign |
Het |
| Lgals8 |
A |
T |
13: 12,469,824 (GRCm39) |
F45Y |
probably damaging |
Het |
| Lgalsl |
G |
A |
11: 20,776,491 (GRCm39) |
R134C |
probably benign |
Het |
| Lmcd1 |
T |
C |
6: 112,306,875 (GRCm39) |
V349A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,618,718 (GRCm39) |
N119Y |
possibly damaging |
Het |
| Lrrc73 |
T |
A |
17: 46,566,621 (GRCm39) |
I157N |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,334,766 (GRCm39) |
Y293H |
probably damaging |
Het |
| Mybphl |
A |
T |
3: 108,282,400 (GRCm39) |
|
probably null |
Het |
| Naa12 |
T |
C |
18: 80,255,161 (GRCm39) |
S152P |
probably benign |
Het |
| Ndrg1 |
A |
G |
15: 66,802,930 (GRCm39) |
M140T |
possibly damaging |
Het |
| Or2n1e |
T |
A |
17: 38,585,997 (GRCm39) |
C112S |
possibly damaging |
Het |
| Or8b38 |
A |
G |
9: 37,972,796 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pbx2 |
T |
C |
17: 34,812,951 (GRCm39) |
S76P |
possibly damaging |
Het |
| Plcl2 |
T |
A |
17: 50,913,826 (GRCm39) |
S278R |
probably benign |
Het |
| Polr3d |
A |
T |
14: 70,676,915 (GRCm39) |
L393* |
probably null |
Het |
| Prmt6 |
T |
C |
3: 110,157,683 (GRCm39) |
Q202R |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Sag |
T |
A |
1: 87,759,662 (GRCm39) |
I300N |
probably damaging |
Het |
| Sap25 |
T |
A |
5: 137,640,180 (GRCm39) |
|
probably null |
Het |
| Scarb2 |
A |
G |
5: 92,608,695 (GRCm39) |
L177P |
probably damaging |
Het |
| Sh3pxd2b |
A |
T |
11: 32,372,203 (GRCm39) |
N457Y |
possibly damaging |
Het |
| Siae |
T |
A |
9: 37,542,902 (GRCm39) |
|
probably null |
Het |
| Slc36a1 |
T |
C |
11: 55,119,150 (GRCm39) |
L375P |
probably damaging |
Het |
| Smg8 |
A |
G |
11: 86,976,594 (GRCm39) |
V329A |
probably damaging |
Het |
| Tas2r113 |
A |
T |
6: 132,870,695 (GRCm39) |
Y241F |
probably damaging |
Het |
| Tm9sf3 |
T |
G |
19: 41,244,668 (GRCm39) |
S70R |
probably benign |
Het |
| Tmem144 |
C |
T |
3: 79,732,594 (GRCm39) |
S228N |
probably damaging |
Het |
| Tmem45a |
C |
A |
16: 56,642,701 (GRCm39) |
V157F |
possibly damaging |
Het |
| Tpbg |
G |
T |
9: 85,726,429 (GRCm39) |
V133L |
probably damaging |
Het |
| Trpv3 |
G |
A |
11: 73,186,209 (GRCm39) |
V667I |
possibly damaging |
Het |
| Ube2c |
T |
C |
2: 164,613,241 (GRCm39) |
F53S |
probably damaging |
Het |
| Vmn1r78 |
T |
A |
7: 11,887,250 (GRCm39) |
V287D |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,527,035 (GRCm39) |
D499V |
probably benign |
Het |
| Zpld2 |
C |
G |
4: 133,927,610 (GRCm39) |
C381S |
probably damaging |
Het |
| Zpld2 |
T |
A |
4: 133,929,430 (GRCm39) |
T292S |
possibly damaging |
Het |
|
| Other mutations in Ccser2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Ccser2
|
APN |
14 |
36,662,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01285:Ccser2
|
APN |
14 |
36,660,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01622:Ccser2
|
APN |
14 |
36,662,920 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01623:Ccser2
|
APN |
14 |
36,662,920 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02322:Ccser2
|
APN |
14 |
36,631,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02342:Ccser2
|
APN |
14 |
36,640,562 (GRCm39) |
splice site |
probably benign |
|
|
IGL02899:Ccser2
|
APN |
14 |
36,662,716 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0433:Ccser2
|
UTSW |
14 |
36,640,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Ccser2
|
UTSW |
14 |
36,662,149 (GRCm39) |
missense |
probably benign |
|
|
R0674:Ccser2
|
UTSW |
14 |
36,640,548 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0853:Ccser2
|
UTSW |
14 |
36,662,367 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0964:Ccser2
|
UTSW |
14 |
36,630,965 (GRCm39) |
splice site |
probably benign |
|
|
R1748:Ccser2
|
UTSW |
14 |
36,618,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Ccser2
|
UTSW |
14 |
36,640,548 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2405:Ccser2
|
UTSW |
14 |
36,660,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2926:Ccser2
|
UTSW |
14 |
36,601,518 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3846:Ccser2
|
UTSW |
14 |
36,662,245 (GRCm39) |
missense |
probably benign |
|
|
R4298:Ccser2
|
UTSW |
14 |
36,612,337 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4701:Ccser2
|
UTSW |
14 |
36,660,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4746:Ccser2
|
UTSW |
14 |
36,631,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Ccser2
|
UTSW |
14 |
36,662,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4959:Ccser2
|
UTSW |
14 |
36,662,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5020:Ccser2
|
UTSW |
14 |
36,662,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5179:Ccser2
|
UTSW |
14 |
36,601,308 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5378:Ccser2
|
UTSW |
14 |
36,601,391 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6011:Ccser2
|
UTSW |
14 |
36,601,532 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6057:Ccser2
|
UTSW |
14 |
36,663,122 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6180:Ccser2
|
UTSW |
14 |
36,662,276 (GRCm39) |
missense |
probably benign |
|
|
R6216:Ccser2
|
UTSW |
14 |
36,662,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Ccser2
|
UTSW |
14 |
36,662,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6266:Ccser2
|
UTSW |
14 |
36,601,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Ccser2
|
UTSW |
14 |
36,601,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6862:Ccser2
|
UTSW |
14 |
36,662,038 (GRCm39) |
missense |
probably benign |
|
|
R7025:Ccser2
|
UTSW |
14 |
36,661,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7076:Ccser2
|
UTSW |
14 |
36,661,786 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7092:Ccser2
|
UTSW |
14 |
36,662,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7353:Ccser2
|
UTSW |
14 |
36,663,100 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7440:Ccser2
|
UTSW |
14 |
36,620,174 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7509:Ccser2
|
UTSW |
14 |
36,660,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Ccser2
|
UTSW |
14 |
36,601,457 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7770:Ccser2
|
UTSW |
14 |
36,648,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Ccser2
|
UTSW |
14 |
36,618,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8194:Ccser2
|
UTSW |
14 |
36,618,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Ccser2
|
UTSW |
14 |
36,612,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8456:Ccser2
|
UTSW |
14 |
36,612,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8805:Ccser2
|
UTSW |
14 |
36,601,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8890:Ccser2
|
UTSW |
14 |
36,601,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8994:Ccser2
|
UTSW |
14 |
36,662,076 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9274:Ccser2
|
UTSW |
14 |
36,660,737 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9425:Ccser2
|
UTSW |
14 |
36,601,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9502:Ccser2
|
UTSW |
14 |
36,631,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9644:Ccser2
|
UTSW |
14 |
36,601,150 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0066:Ccser2
|
UTSW |
14 |
36,662,956 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAATAAGATGGGCCACAGTATGCAG -3'
(R):5'- TGCGTTACAACAGCAGGGTCAG -3'
Sequencing Primer
(F):5'- GCTATTAGAAGCACATTCGCTTG -3'
(R):5'- AGTAGTAATCCTTTTATGCCCTGG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation