Mutagenetix > Incidental Mutation

Incidental Mutation 'R2107:Crmp1'

277467

Institutional Source

Beutler Lab

Gene Symbol

Crmp1

Ensembl Gene

ENSMUSG00000029121

Gene Name

collapsin response mediator protein 1

Synonyms

Ulip3, DRP-1

MMRRC Submission

040111-MU

Accession Numbers

Essential gene?

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

Stock #

R2107 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37399402-37449507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37399838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 117 (R117L)

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

SMART Domains

Protein: ENSMUSP00000031004
Gene: ENSMUSG00000029121

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: R117L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109795
Gene: ENSMUSG00000029121
AA Change: R117L

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

probably benign
Transcript: ENSMUST00000202434
AA Change: R117L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000143847
Gene: ENSMUSG00000029121
AA Change: R117L

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

0.0688

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,685,744 (GRCm39)	L364Q	probably damaging	Het
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Ace2	A	G	X: 162,923,728 (GRCm39)	N24S	probably benign	Het
Acp2	G	A	2: 91,033,940 (GRCm39)		probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Bcas3	G	A	11: 85,348,704 (GRCm39)	V199I	probably damaging	Het
Cblb	T	A	16: 51,973,079 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,887,808 (GRCm39)	D1557E	probably benign	Het
Cdc20	T	C	4: 118,290,710 (GRCm39)	Y430C	probably damaging	Het
Cdk5rap1	C	T	2: 154,195,166 (GRCm39)	D350N	probably benign	Het
Cgrrf1	T	A	14: 47,090,833 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,036,156 (GRCm39)	Y185*	probably null	Het
Cmtm8	A	T	9: 114,625,176 (GRCm39)	V85D	possibly damaging	Het
Cplx4	A	G	18: 66,089,964 (GRCm39)	S152P	probably benign	Het
Csad	G	C	15: 102,087,469 (GRCm39)	L365V	probably null	Het
Dyrk1a	C	T	16: 94,487,386 (GRCm39)	T532M	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fan1	T	G	7: 64,016,536 (GRCm39)	R529S	probably damaging	Het
Fbln5	A	G	12: 101,737,528 (GRCm39)	W173R	probably damaging	Het
Gm9611	A	T	14: 42,116,611 (GRCm39)	N42K	possibly damaging	Het
Gnal	T	A	18: 67,346,649 (GRCm39)	L257Q	probably damaging	Het
Hint3	A	T	10: 30,494,252 (GRCm39)	F33I	probably damaging	Het
Ipcef1	A	G	10: 6,840,501 (GRCm39)	S403P	probably benign	Het
Kmt2c	T	C	5: 25,514,822 (GRCm39)	N3007S	probably benign	Het
Kpna3	T	C	14: 61,607,933 (GRCm39)	D424G	possibly damaging	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lamc2	A	G	1: 153,030,132 (GRCm39)		probably benign	Het
Lmtk3	G	T	7: 45,443,393 (GRCm39)	C692F	possibly damaging	Het
Lrguk	T	C	6: 34,039,296 (GRCm39)	M269T	probably benign	Het
Lrrc19	T	A	4: 94,527,531 (GRCm39)	T227S	probably benign	Het
Lrrk1	C	A	7: 65,929,030 (GRCm39)	D1201Y	probably damaging	Het
Matn2	T	A	15: 34,423,905 (GRCm39)	Y588N	probably damaging	Het
Mmp1b	A	G	9: 7,369,310 (GRCm39)	W346R	probably damaging	Het
Mpo	T	C	11: 87,686,901 (GRCm39)	Y177H	probably damaging	Het
Mprip	A	G	11: 59,660,717 (GRCm39)	K2166R	probably damaging	Het
Myo15a	T	C	11: 60,382,636 (GRCm39)	Y1544H	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nedd9	A	T	13: 41,492,455 (GRCm39)	C12*	probably null	Het
Neu1	G	A	17: 35,153,374 (GRCm39)	R299Q	probably benign	Het
Nisch	C	T	14: 30,894,097 (GRCm39)	V172I	probably damaging	Het
Npy2r	A	T	3: 82,448,436 (GRCm39)		probably null	Het
Ogg1	C	A	6: 113,306,254 (GRCm39)	N150K	probably damaging	Het
Or1j4	C	A	2: 36,740,355 (GRCm39)	A99E	possibly damaging	Het
Or1p1	T	C	11: 74,180,216 (GRCm39)	V248A	probably damaging	Het
Or6c219	A	G	10: 129,781,581 (GRCm39)	S2P	probably damaging	Het
Pck1	G	C	2: 172,995,861 (GRCm39)	E120Q	probably benign	Het
Pde11a	A	G	2: 76,168,266 (GRCm39)	V229A	probably damaging	Het
Pias2	T	C	18: 77,185,167 (GRCm39)	F83L	probably benign	Het
Plagl1	A	C	10: 13,004,391 (GRCm39)		probably benign	Het
Plin3	A	T	17: 56,591,391 (GRCm39)	S130T	probably benign	Het
Rcc2	A	G	4: 140,448,496 (GRCm39)	Y515C	probably damaging	Het
Rgs12	A	G	5: 35,124,079 (GRCm39)	K621E	possibly damaging	Het
Rnf6	G	A	5: 146,148,091 (GRCm39)	T309I	probably damaging	Het
Rpusd3	G	T	6: 113,392,523 (GRCm39)	T335N	probably damaging	Het
Scn8a	A	T	15: 100,916,244 (GRCm39)	I1218F	probably damaging	Het
Slc23a1	T	A	18: 35,758,879 (GRCm39)	Q104L	possibly damaging	Het
Slc34a3	A	T	2: 25,120,999 (GRCm39)	V363D	probably damaging	Het
Smap1	A	T	1: 23,887,535 (GRCm39)	M248K	possibly damaging	Het
Sp1	A	G	15: 102,318,113 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,183,744 (GRCm39)		probably null	Het
Tbc1d1	T	G	5: 64,442,048 (GRCm39)	N689K	probably benign	Het
Tff2	T	C	17: 31,361,256 (GRCm39)	E99G	possibly damaging	Het
Tjp3	T	C	10: 81,116,378 (GRCm39)	N239D	possibly damaging	Het
Trim37	G	A	11: 87,050,651 (GRCm39)	R230Q	probably benign	Het
Ubr5	A	G	15: 37,989,546 (GRCm39)	M2090T	probably benign	Het
Unc13a	T	C	8: 72,108,895 (GRCm39)		probably null	Het
Usp43	GC	G	11: 67,746,566 (GRCm39)		probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vav2	T	C	2: 27,157,315 (GRCm39)	E829G	probably damaging	Het
Vps35l	T	C	7: 118,393,762 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,353,533 (GRCm39)	D85E	probably benign	Het
Zfp292	A	T	4: 34,808,593 (GRCm39)	F1484I	possibly damaging	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
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'- GAGAACAAGACCATCGACTTCG -3'
(R):5'- ACAACCTCTCTGAACCTCTTGTAG -3'

Sequencing Primer
(F):5'- TCGACTTCGACGCCTACAG -3'
(R):5'- CTCTTGTAGGATGATGTGGGG -3'

Posted On

2015-04-06