Mutagenetix > Incidental Mutation

Incidental Mutation 'R0331:Crmp1'

26040

Institutional Source

Beutler Lab

Gene Symbol

Crmp1

Ensembl Gene

ENSMUSG00000029121

Gene Name

collapsin response mediator protein 1

Synonyms

Ulip3, DRP-1

MMRRC Submission

038540-MU

Accession Numbers

Essential gene?

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

Stock #

R0331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37399402-37449507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37422657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 155 (L155F)

Ref Sequence

ENSEMBL: ENSMUSP00000143847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031004] [ENSMUST00000114158] [ENSMUST00000201834] [ENSMUST00000202434] [ENSMUST00000202652]

AlphaFold

P97427

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031004
AA Change: L41F

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031004
Gene: ENSMUSG00000029121
AA Change: L41F

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

possibly damaging
Transcript: ENSMUST00000114158
AA Change: L155F

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109795
Gene: ENSMUSG00000029121
AA Change: L155F

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: L155F

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143847
Gene: ENSMUSG00000029121
AA Change: L155F

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

0.1134

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (81/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	A	8: 79,956,021 (GRCm39)	T79S	probably benign	Het
Abtb1	T	C	6: 88,817,684 (GRCm39)		probably benign	Het
Acot12	G	A	13: 91,908,183 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,078,541 (GRCm39)	S54T	probably benign	Het
Adgrl4	T	C	3: 151,203,577 (GRCm39)	S96P	probably benign	Het
Aip	G	T	19: 4,168,247 (GRCm39)	T40K	probably damaging	Het
Anapc4	A	G	5: 53,012,984 (GRCm39)		probably benign	Het
Asz1	A	G	6: 18,103,618 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,538,161 (GRCm39)	T465A	possibly damaging	Het
Atp11a	C	T	8: 12,866,953 (GRCm39)	Q127*	probably null	Het
Axin1	A	G	17: 26,362,081 (GRCm39)	R142G	probably damaging	Het
Bcat1	T	A	6: 144,993,040 (GRCm39)	E86V	probably benign	Het
Brd4	G	A	17: 32,421,489 (GRCm39)	P749L	probably benign	Het
C1ra	G	A	6: 124,496,394 (GRCm39)		probably null	Het
Capza2	A	T	6: 17,665,102 (GRCm39)	N237I	probably benign	Het
Cd2ap	A	T	17: 43,116,192 (GRCm39)	V556E	probably benign	Het
Cfap65	G	A	1: 74,968,460 (GRCm39)	P124L	probably damaging	Het
Cfap65	G	T	1: 74,968,461 (GRCm39)	P124T	probably damaging	Het
Cftr	T	C	6: 18,235,225 (GRCm39)	V488A	possibly damaging	Het
Ckmt1	A	T	2: 121,193,337 (GRCm39)		probably null	Het
Cmya5	T	G	13: 93,280,911 (GRCm39)	E35A	possibly damaging	Het
Col7a1	A	G	9: 108,796,570 (GRCm39)		probably benign	Het
Cyp2d10	T	A	15: 82,291,227 (GRCm39)	T33S	probably benign	Het
Dhdh	T	C	7: 45,137,544 (GRCm39)	K48E	probably benign	Het
Dlst	T	C	12: 85,165,586 (GRCm39)	V103A	probably damaging	Het
Dohh	C	T	10: 81,223,646 (GRCm39)	T233I	probably benign	Het
Dvl2	C	A	11: 69,897,043 (GRCm39)		probably benign	Het
Eipr1	C	T	12: 28,914,703 (GRCm39)	Q286*	probably null	Het
Enpp6	C	A	8: 47,535,484 (GRCm39)	T343K	probably damaging	Het
Fbxw11	T	A	11: 32,661,895 (GRCm39)	F112I	probably damaging	Het
Gdpd4	T	A	7: 97,622,215 (GRCm39)	N231K	probably benign	Het
Gm6370	A	T	5: 146,430,576 (GRCm39)	T254S	probably benign	Het
Hapln4	G	T	8: 70,537,159 (GRCm39)	Q31H	probably damaging	Het
Hic1	T	A	11: 75,056,316 (GRCm39)	T858S	possibly damaging	Het
Isg20l2	T	C	3: 87,839,092 (GRCm39)	L101P	probably damaging	Het
Itga10	T	C	3: 96,559,799 (GRCm39)	Y485H	probably damaging	Het
Itgal	T	A	7: 126,905,853 (GRCm39)		probably null	Het
Itln1	T	C	1: 171,359,117 (GRCm39)	N62S	probably damaging	Het
Kdm4b	T	C	17: 56,693,289 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,226,479 (GRCm39)		probably benign	Het
Lman2	A	T	13: 55,500,829 (GRCm39)	H123Q	probably damaging	Het
Lztr1	T	A	16: 17,342,101 (GRCm39)		probably benign	Het
Myo3b	G	T	2: 69,925,605 (GRCm39)	G24V	probably damaging	Het
Nacad	T	A	11: 6,549,441 (GRCm39)	Q1250L	possibly damaging	Het
Ncor2	A	T	5: 125,161,981 (GRCm39)	M431K	unknown	Het
Nek9	T	A	12: 85,374,149 (GRCm39)		probably benign	Het
Neu1	C	A	17: 35,153,146 (GRCm39)	N255K	possibly damaging	Het
Nf2	T	A	11: 4,744,914 (GRCm39)	T75S	probably benign	Het
Nipal4	T	A	11: 46,041,040 (GRCm39)	D385V	probably damaging	Het
Olah	T	A	2: 3,343,511 (GRCm39)	N245I	probably damaging	Het
Or5p54	G	T	7: 107,554,077 (GRCm39)	L76F	probably benign	Het
Pag1	T	A	3: 9,767,030 (GRCm39)	T90S	probably benign	Het
Pald1	A	G	10: 61,176,708 (GRCm39)		probably null	Het
Parva	A	G	7: 112,144,005 (GRCm39)	M98V	probably benign	Het
Paxbp1	T	A	16: 90,834,255 (GRCm39)	D177V	possibly damaging	Het
Paxip1	A	G	5: 27,970,230 (GRCm39)	I587T	probably damaging	Het
Pclo	T	C	5: 14,730,390 (GRCm39)		probably benign	Het
Pdgfra	T	A	5: 75,355,713 (GRCm39)	D1074E	probably damaging	Het
Pef1	A	T	4: 130,021,241 (GRCm39)	D265V	probably damaging	Het
Plekhh2	G	A	17: 84,893,794 (GRCm39)	E870K	possibly damaging	Het
Plscr4	G	A	9: 92,364,695 (GRCm39)	G40D	probably damaging	Het
Psg18	A	G	7: 18,087,233 (GRCm39)	Y142H	probably benign	Het
Ptchd3	A	T	11: 121,733,017 (GRCm39)	M636L	probably benign	Het
Rab2a	A	G	4: 8,572,559 (GRCm39)	D51G	probably benign	Het
Rnf139	T	A	15: 58,771,755 (GRCm39)	D593E	probably benign	Het
Septin7	A	G	9: 25,217,552 (GRCm39)	N422S	probably benign	Het
Shprh	T	C	10: 11,069,914 (GRCm39)		probably benign	Het
Slc7a6os	A	G	8: 106,937,199 (GRCm39)	I87T	probably damaging	Het
Slc7a7	A	G	14: 54,615,381 (GRCm39)		probably benign	Het
Spc24	G	T	9: 21,668,609 (GRCm39)	N129K	possibly damaging	Het
Strip2	C	T	6: 29,926,559 (GRCm39)	T148I	probably benign	Het
Tmem150c	A	C	5: 100,234,132 (GRCm39)		probably null	Het
Trav13-5	A	G	14: 54,033,205 (GRCm39)	N38S	probably benign	Het
Ttn	G	T	2: 76,641,364 (GRCm39)	Y11801*	probably null	Het
Usp37	A	T	1: 74,493,223 (GRCm39)	L688*	probably null	Het
Usp38	T	C	8: 81,722,469 (GRCm39)	I351V	probably benign	Het
Vav2	T	A	2: 27,186,187 (GRCm39)	M223L	probably benign	Het
Wdr36	A	G	18: 32,985,968 (GRCm39)	I557M	possibly damaging	Het
Wwc2	A	T	8: 48,333,239 (GRCm39)	M259K	probably benign	Het
Znfx1	G	A	2: 166,888,898 (GRCm39)	S770L	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
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

Predicted Primers

PCR Primer
(F):5'- GGGGACCATTCTTATTCAAGCCATTGC -3'
(R):5'- ATGGTGTCTTCTATTGCACCCATAACC -3'

Sequencing Primer
(F):5'- GTCGTTGATCTAATGCATCGTTT -3'
(R):5'- ccccatcctcctcctcc -3'

Posted On

2013-04-16