Mutagenetix > Incidental Mutation

Incidental Mutation 'R0049:Crmp1'

16104

Institutional Source

Beutler Lab

Gene Symbol

Crmp1

Ensembl Gene

ENSMUSG00000029121

Gene Name

collapsin response mediator protein 1

Synonyms

Ulip3, DRP-1

MMRRC Submission

038343-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.351) question?

Stock #

R0049 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37399402-37449507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37422617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 141 (D141E)

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: D27E

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031004
Gene: ENSMUSG00000029121
AA Change: D27E

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: D141E

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109795
Gene: ENSMUSG00000029121
AA Change: D141E

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: D141E

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143847
Gene: ENSMUSG00000029121
AA Change: D141E

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

0.0650

Coding Region Coverage

1x: 90.0%
3x: 87.7%
10x: 82.4%
20x: 74.6%

Validation Efficiency

89% (108/122)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,267 (GRCm39)	H9L	possibly damaging	Het
Aars1	T	A	8: 111,779,083 (GRCm39)	I739K	possibly damaging	Het
Acod1	T	A	14: 103,292,643 (GRCm39)	I389K	possibly damaging	Het
Akap1	C	A	11: 88,730,450 (GRCm39)		probably null	Het
Anxa7	T	C	14: 20,512,678 (GRCm39)	D285G	probably damaging	Het
Arhgap1	T	C	2: 91,500,514 (GRCm39)	Y308H	probably damaging	Het
Arhgef11	T	A	3: 87,636,500 (GRCm39)		probably null	Het
Atosb	A	T	4: 43,036,441 (GRCm39)	S97T	probably benign	Het
Atp6v0a4	G	A	6: 38,059,016 (GRCm39)	R256C	probably damaging	Het
Camsap3	C	A	8: 3,648,772 (GRCm39)	S163R	probably benign	Het
Ccdc110	A	T	8: 46,395,663 (GRCm39)	E518V	probably damaging	Het
Ccdc180	G	A	4: 45,930,119 (GRCm39)		probably null	Het
Ccnt1	T	C	15: 98,462,960 (GRCm39)	M71V	probably benign	Het
Celsr2	T	A	3: 108,304,570 (GRCm39)	Y2263F	probably benign	Het
Cfap69	T	C	5: 5,663,734 (GRCm39)	T498A	probably benign	Het
Clstn3	T	A	6: 124,436,812 (GRCm39)	I132F	possibly damaging	Het
Cnot4	A	G	6: 35,028,212 (GRCm39)	V468A	probably benign	Het
Cryz	C	A	3: 154,317,189 (GRCm39)	A136D	probably damaging	Het
Dcst2	T	C	3: 89,278,913 (GRCm39)	V550A	probably benign	Het
Dph6	A	G	2: 114,353,525 (GRCm39)	V221A	probably benign	Het
Ecm2	A	T	13: 49,677,922 (GRCm39)	K403*	probably null	Het
Eif3d	T	C	15: 77,843,924 (GRCm39)	N474S	probably benign	Het
F12	T	C	13: 55,574,130 (GRCm39)	D34G	probably benign	Het
Fam228b	A	T	12: 4,798,117 (GRCm39)	F200Y	probably damaging	Het
Fgl2	T	A	5: 21,580,661 (GRCm39)	D334E	possibly damaging	Het
Fras1	T	A	5: 96,924,481 (GRCm39)	F3641I	probably benign	Het
Gabrb2	T	G	11: 42,484,674 (GRCm39)	Y244D	probably damaging	Het
Gcc1	A	T	6: 28,421,268 (GRCm39)	D16E	probably benign	Het
Gm10648	T	C	7: 28,561,202 (GRCm39)		probably benign	Het
Gorasp2	T	C	2: 70,521,067 (GRCm39)	S346P	possibly damaging	Het
Htt	A	C	5: 35,066,006 (GRCm39)	K3060N	probably damaging	Het
Ibsp	C	T	5: 104,450,024 (GRCm39)	L8F	probably damaging	Het
Kif27	A	T	13: 58,451,378 (GRCm39)	D983E	probably damaging	Het
Kif3a	T	A	11: 53,481,560 (GRCm39)		probably benign	Het
Kif3c	A	C	12: 3,417,090 (GRCm39)	K370N	possibly damaging	Het
Loxhd1	T	C	18: 77,468,256 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,623,758 (GRCm39)	D74E	probably damaging	Het
Med21	T	C	6: 146,551,732 (GRCm39)	S128P	probably damaging	Het
Mms19	A	C	19: 41,943,607 (GRCm39)	M374R	probably damaging	Het
Mrpl3	T	C	9: 104,932,872 (GRCm39)	V111A	probably benign	Het
Mtfr2	T	A	10: 20,224,158 (GRCm39)	Y31N	probably damaging	Het
Neb	A	C	2: 52,060,479 (GRCm39)	M2286R	possibly damaging	Het
Ngf	A	T	3: 102,427,661 (GRCm39)	R137*	probably null	Het
Nr1i3	T	A	1: 171,041,982 (GRCm39)	V22E	probably damaging	Het
Nxpe5	T	C	5: 138,249,566 (GRCm39)	V452A	probably damaging	Het
Or11g27	A	T	14: 50,771,151 (GRCm39)	K94M	probably damaging	Het
Pax3	A	G	1: 78,080,141 (GRCm39)	L415P	probably damaging	Het
Pcnt	G	T	10: 76,205,655 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,672 (GRCm39)	D183E	possibly damaging	Het
Pglyrp1	G	T	7: 18,623,313 (GRCm39)	G120V	probably damaging	Het
Pomt1	T	A	2: 32,142,023 (GRCm39)	H584Q	possibly damaging	Het
Prkcq	G	A	2: 11,288,643 (GRCm39)	G532E	probably benign	Het
Pwp1	A	G	10: 85,721,480 (GRCm39)	T361A	possibly damaging	Het
Rab4a	A	T	8: 124,554,081 (GRCm39)	H5L	probably damaging	Het
Ramp1	T	C	1: 91,124,592 (GRCm39)	I51T	possibly damaging	Het
Raph1	G	T	1: 60,565,058 (GRCm39)	T143K	probably benign	Het
Rhpn1	A	G	15: 75,581,088 (GRCm39)	E110G	possibly damaging	Het
Rnf168	A	T	16: 32,117,287 (GRCm39)	T283S	possibly damaging	Het
Ros1	T	A	10: 51,977,857 (GRCm39)	Y1463F	possibly damaging	Het
Rtn4ip1	A	G	10: 43,797,430 (GRCm39)	Q223R	probably null	Het
Rtp4	G	T	16: 23,431,679 (GRCm39)	M70I	probably benign	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Sgo1	C	T	17: 53,986,691 (GRCm39)	D167N	probably damaging	Het
Slco1a8	T	C	6: 141,936,147 (GRCm39)	T313A	probably benign	Het
St6gal1	G	T	16: 23,139,891 (GRCm39)	A21S	probably damaging	Het
Stard9	C	A	2: 120,530,300 (GRCm39)	L2186I	probably damaging	Het
Sun2	T	A	15: 79,611,810 (GRCm39)		probably benign	Het
Taf4	G	A	2: 179,565,884 (GRCm39)	T849M	probably damaging	Het
Taok2	G	A	7: 126,465,583 (GRCm39)	H404Y	possibly damaging	Het
Tdrd7	A	G	4: 45,987,582 (GRCm39)	I72V	probably damaging	Het
Trav1	T	A	14: 52,666,155 (GRCm39)	S52T	probably damaging	Het
Trim30a	C	T	7: 104,078,559 (GRCm39)		probably null	Het
Tro	T	C	X: 149,437,565 (GRCm39)	N364S	possibly damaging	Het
Tshz3	A	G	7: 36,469,534 (GRCm39)	T508A	probably damaging	Het
Ttc21b	A	G	2: 66,053,908 (GRCm39)	L757P	probably damaging	Het
Vmn1r218	C	T	13: 23,321,225 (GRCm39)	Q111*	probably null	Het
Vmn2r75	G	A	7: 85,797,309 (GRCm39)	Q835*	probably null	Het
Xcr1	T	A	9: 123,684,940 (GRCm39)	D274V	possibly damaging	Het
Ypel5	C	T	17: 73,153,332 (GRCm39)	T12I	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
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
R3417:Crmp1	UTSW	5	37,426,031 (GRCm39)	missense	possibly damaging	0.48
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

Posted On

2013-01-08