Incidental Mutation 'R3417:Crmp1'
| ID |
266840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crmp1
|
| Ensembl Gene |
ENSMUSG00000029121 |
| Gene Name |
collapsin response mediator protein 1 |
| Synonyms |
Ulip3, DRP-1 |
| MMRRC Submission |
040635-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.391)
|
| Stock # |
R3417 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
37399402-37449507 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37426031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 159
(I159L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031004]
[ENSMUST00000114158]
[ENSMUST00000201834]
[ENSMUST00000202434]
[ENSMUST00000202652]
|
| AlphaFold |
P97427 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031004
AA Change: I45L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031004
Gene: ENSMUSG00000029121
AA Change: I45L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
64 |
453 |
9.1e-35 |
PFAM |
|
Pfam:Amidohydro_3
|
333 |
454 |
8.5e-10 |
PFAM |
|
low complexity region
|
507 |
530 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114158
AA Change: I159L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000109795
Gene: ENSMUSG00000029121
AA Change: I159L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
178 |
567 |
5.2e-34 |
PFAM |
|
Pfam:Amidohydro_3
|
448 |
568 |
2.8e-10 |
PFAM |
|
low complexity region
|
621 |
644 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201315
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201834
|
| SMART Domains |
Protein: ENSMUSP00000144408
Gene: ENSMUSG00000029121
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
1 |
143 |
3.6e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202377
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202434
AA Change: I159L
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143847
Gene: ENSMUSG00000029121
AA Change: I159L
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1KCX|B
|
128 |
191 |
3e-36 |
PDB |
|
SCOP:d1gkpa1
|
131 |
190 |
2e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202652
|
| SMART Domains |
Protein: ENSMUSP00000143895
Gene: ENSMUSG00000029121
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
1 |
155 |
1.2e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.1010 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein that is part of the collapsin response mediator protein family. The family is comprised of five, homologous cytosolic phosphoproteins that are expressed in developing and adult nervous tissue and mediate signaling to transduce responses to extracellular cues. This protein is a Semaphorin 3A signaling molecule that regulates collapse of the growth cone. The growth cone mediates axonal pathfinding in neurons. This protein is reported to represent a new class of microtubule-associated proteins. In humans this protein is reported to inhibit cancer cell invasion. In mouse deficiency of this gene may be associated with impaired spatial memory performance. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for one knock-out allele show transient postnatal changes in granule cell proliferation, apoptosis and migration in cerebellum and delayed radial migration of cortical neurons in cerebral cortex. Homozygotes for another knock-out allele show reduced LTP and impaired spatial learning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,224,302 (GRCm39) |
|
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,564,965 (GRCm39) |
Y201C |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,698,135 (GRCm39) |
|
probably null |
Het |
| Ankrd17 |
G |
A |
5: 90,391,772 (GRCm39) |
T1857I |
possibly damaging |
Het |
| Atp6v0d2 |
A |
G |
4: 19,888,829 (GRCm39) |
|
probably benign |
Het |
| Cep170 |
G |
T |
1: 176,583,610 (GRCm39) |
P923Q |
probably damaging |
Het |
| Cfc1 |
A |
T |
1: 34,575,457 (GRCm39) |
R44* |
probably null |
Het |
| Col6a1 |
C |
T |
10: 76,548,203 (GRCm39) |
V618M |
unknown |
Het |
| Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
| Cyp4f39 |
T |
C |
17: 32,708,716 (GRCm39) |
V421A |
possibly damaging |
Het |
| Ero1a |
T |
C |
14: 45,525,323 (GRCm39) |
T401A |
possibly damaging |
Het |
| Exoc6b |
C |
G |
6: 84,867,547 (GRCm39) |
L288F |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,816,854 (GRCm39) |
V4196I |
possibly damaging |
Het |
| Icosl |
A |
T |
10: 77,907,869 (GRCm39) |
N143I |
possibly damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Irag1 |
T |
C |
7: 110,476,161 (GRCm39) |
T597A |
possibly damaging |
Het |
| Jrk |
A |
G |
15: 74,578,734 (GRCm39) |
Y184H |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,515,715 (GRCm39) |
L113P |
probably damaging |
Het |
| Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,678 (GRCm39) |
F365L |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,505,435 (GRCm39) |
S2178T |
possibly damaging |
Het |
| Map4k5 |
A |
T |
12: 69,856,038 (GRCm39) |
V716E |
probably damaging |
Het |
| Mcm9 |
T |
C |
10: 53,413,503 (GRCm39) |
T1264A |
possibly damaging |
Het |
| Mia3 |
T |
A |
1: 183,143,444 (GRCm39) |
D100V |
probably damaging |
Het |
| Mrgprb2 |
C |
A |
7: 48,202,281 (GRCm39) |
R148L |
probably damaging |
Het |
| Mterf1a |
A |
G |
5: 3,940,795 (GRCm39) |
S358P |
probably damaging |
Het |
| Myd88 |
T |
C |
9: 119,166,556 (GRCm39) |
I253V |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nqo2 |
G |
T |
13: 34,163,616 (GRCm39) |
V92L |
probably benign |
Het |
| Or4k2 |
T |
A |
14: 50,424,069 (GRCm39) |
T202S |
possibly damaging |
Het |
| Pcdhb15 |
A |
T |
18: 37,608,216 (GRCm39) |
N483Y |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,795,235 (GRCm39) |
F667S |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,929,828 (GRCm39) |
A228E |
probably damaging |
Het |
| Prpsap1 |
T |
C |
11: 116,369,410 (GRCm39) |
S179G |
probably benign |
Het |
| Rtl4 |
C |
T |
X: 143,902,901 (GRCm39) |
Q108* |
probably null |
Het |
| Scn8a |
A |
G |
15: 100,869,549 (GRCm39) |
|
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc44a1 |
G |
A |
4: 53,553,549 (GRCm39) |
V519I |
probably benign |
Het |
| Smg1 |
G |
C |
7: 117,748,076 (GRCm39) |
|
probably benign |
Het |
| Sptlc2 |
A |
G |
12: 87,393,582 (GRCm39) |
|
probably benign |
Het |
| St13 |
A |
T |
15: 81,253,651 (GRCm39) |
|
probably benign |
Het |
| Strbp |
C |
G |
2: 37,480,737 (GRCm39) |
R610T |
possibly damaging |
Het |
| Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
| Tex55 |
A |
C |
16: 38,649,102 (GRCm39) |
D2E |
probably benign |
Het |
| Tgm3 |
G |
A |
2: 129,889,692 (GRCm39) |
V629M |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,722,612 (GRCm39) |
V1019A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,615,908 (GRCm39) |
C14932* |
probably null |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
|
| Other mutations in Crmp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01023:Crmp1
|
APN |
5 |
37,433,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02506:Crmp1
|
APN |
5 |
37,436,199 (GRCm39) |
splice site |
probably benign |
|
|
IGL02904:Crmp1
|
APN |
5 |
37,446,262 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02946:Crmp1
|
APN |
5 |
37,441,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02981:Crmp1
|
APN |
5 |
37,443,770 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03068:Crmp1
|
APN |
5 |
37,422,633 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0049:Crmp1
|
UTSW |
5 |
37,422,617 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0049:Crmp1
|
UTSW |
5 |
37,422,617 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0105:Crmp1
|
UTSW |
5 |
37,441,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Crmp1
|
UTSW |
5 |
37,441,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0331:Crmp1
|
UTSW |
5 |
37,422,657 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1226:Crmp1
|
UTSW |
5 |
37,430,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1372:Crmp1
|
UTSW |
5 |
37,446,155 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1651:Crmp1
|
UTSW |
5 |
37,430,783 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1653:Crmp1
|
UTSW |
5 |
37,443,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1951:Crmp1
|
UTSW |
5 |
37,430,699 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1977:Crmp1
|
UTSW |
5 |
37,433,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2107:Crmp1
|
UTSW |
5 |
37,399,838 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2295:Crmp1
|
UTSW |
5 |
37,422,606 (GRCm39) |
missense |
probably benign |
|
|
R2495:Crmp1
|
UTSW |
5 |
37,403,441 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3788:Crmp1
|
UTSW |
5 |
37,441,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4490:Crmp1
|
UTSW |
5 |
37,433,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5338:Crmp1
|
UTSW |
5 |
37,437,018 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5592:Crmp1
|
UTSW |
5 |
37,422,609 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5761:Crmp1
|
UTSW |
5 |
37,440,212 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6243:Crmp1
|
UTSW |
5 |
37,446,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6726:Crmp1
|
UTSW |
5 |
37,441,408 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6750:Crmp1
|
UTSW |
5 |
37,422,666 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7013:Crmp1
|
UTSW |
5 |
37,426,036 (GRCm39) |
splice site |
probably null |
|
|
R7183:Crmp1
|
UTSW |
5 |
37,446,161 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7360:Crmp1
|
UTSW |
5 |
37,433,624 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7419:Crmp1
|
UTSW |
5 |
37,436,229 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7792:Crmp1
|
UTSW |
5 |
37,441,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Crmp1
|
UTSW |
5 |
37,448,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8479:Crmp1
|
UTSW |
5 |
37,441,502 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8762:Crmp1
|
UTSW |
5 |
37,441,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Crmp1
|
UTSW |
5 |
37,399,490 (GRCm39) |
start codon destroyed |
probably null |
0.68 |
|
R9027:Crmp1
|
UTSW |
5 |
37,437,947 (GRCm39) |
nonsense |
probably null |
|
|
R9477:Crmp1
|
UTSW |
5 |
37,446,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9778:Crmp1
|
UTSW |
5 |
37,422,619 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1177:Crmp1
|
UTSW |
5 |
37,435,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGAGCCCTTGAGAATGC -3'
(R):5'- CACTCACTGATCATCGTGGTTC -3'
Sequencing Primer
(F):5'- AGCCCTTGAGAATGCTATGC -3'
(R):5'- GATCATCGTGGTTCCACCTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation