Mutagenetix > Incidental Mutation

Incidental Mutation 'R6243:Crmp1'

505368

Institutional Source

Beutler Lab

Gene Symbol

Crmp1

Ensembl Gene

ENSMUSG00000029121

Gene Name

collapsin response mediator protein 1

Synonyms

Ulip3, DRP-1

MMRRC Submission

044365-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.391) question?

Stock #

R6243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37399402-37449507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37446288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 648 (L648P)

Ref Sequence

ENSEMBL: ENSMUSP00000109795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031004] [ENSMUST00000114154] [ENSMUST00000114158]

AlphaFold

P97427

Predicted Effect

probably damaging
Transcript: ENSMUST00000031004
AA Change: L534P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031004
Gene: ENSMUSG00000029121
AA Change: L534P

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: ENSMUST00000114154

SMART Domains

Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122

Domain	Start	End	E-Value	Type
low complexity region	272	295	N/A	INTRINSIC
low complexity region	463	475	N/A	INTRINSIC
low complexity region	493	505	N/A	INTRINSIC
coiled coil region	517	548	N/A	INTRINSIC
low complexity region	595	609	N/A	INTRINSIC
coiled coil region	694	734	N/A	INTRINSIC
low complexity region	750	767	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114158
AA Change: L648P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109795
Gene: ENSMUSG00000029121
AA Change: L648P

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: ENSMUST00000200834

Meta Mutation Damage Score

0.6236

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (73/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,450,809 (GRCm39)	S331P	probably damaging	Het
Akap9	T	G	5: 4,115,000 (GRCm39)		probably null	Het
Ankef1	A	G	2: 136,379,077 (GRCm39)	E9G	probably damaging	Het
Ap1g2	T	C	14: 55,336,530 (GRCm39)	E788G	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Asrgl1	A	T	19: 9,093,868 (GRCm39)	I220K	probably damaging	Het
Atg16l2	A	C	7: 100,941,536 (GRCm39)	*404E	probably null	Het
Atp4a	T	C	7: 30,415,382 (GRCm39)	F334S	possibly damaging	Het
Atp6v0d1	T	C	8: 106,292,495 (GRCm39)	E17G	probably benign	Het
Bcat2	T	C	7: 45,237,691 (GRCm39)	V279A	probably benign	Het
Birc6	T	G	17: 74,916,382 (GRCm39)	M459R	probably damaging	Het
Bsn	T	C	9: 107,984,760 (GRCm39)	Y3098C	unknown	Het
Btaf1	T	A	19: 36,958,520 (GRCm39)	M679K	probably benign	Het
Cirop	T	A	14: 54,933,216 (GRCm39)	R322S	probably damaging	Het
Col6a4	T	C	9: 105,890,589 (GRCm39)	T1902A	possibly damaging	Het
Crhr1	G	A	11: 104,064,740 (GRCm39)	C364Y	probably damaging	Het
Cyfip1	T	C	7: 55,550,277 (GRCm39)	Y671H	probably damaging	Het
Cyp2b13	C	T	7: 25,761,044 (GRCm39)	P34S	probably damaging	Het
Dnajb6	T	A	5: 29,986,131 (GRCm39)	V233E	probably benign	Het
Dnhd1	A	T	7: 105,301,216 (GRCm39)	H191L	probably damaging	Het
Dsg3	T	A	18: 20,672,781 (GRCm39)	D817E	probably damaging	Het
Dytn	T	C	1: 63,686,680 (GRCm39)	Q330R	possibly damaging	Het
Fads1	G	T	19: 10,163,091 (GRCm39)	E123*	probably null	Het
Fchsd2	T	C	7: 100,921,016 (GRCm39)		probably benign	Het
Fmo9	T	C	1: 166,494,938 (GRCm39)	E270G	probably benign	Het
Folr1	T	A	7: 101,513,172 (GRCm39)	H41L	probably damaging	Het
Gm7298	A	G	6: 121,756,096 (GRCm39)	N985S	possibly damaging	Het
Gp1ba	T	C	11: 70,530,963 (GRCm39)		probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Igf2bp3	A	T	6: 49,084,362 (GRCm39)	N285K	possibly damaging	Het
Lca5l	G	A	16: 95,980,112 (GRCm39)	T6I	possibly damaging	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Mpeg1	A	G	19: 12,439,604 (GRCm39)	H354R	probably benign	Het
Msh6	T	A	17: 88,290,999 (GRCm39)	V195E	possibly damaging	Het
Mtfmt	C	T	9: 65,351,182 (GRCm39)	T243I	probably benign	Het
Myo1h	T	A	5: 114,500,208 (GRCm39)	I195K	probably damaging	Het
Nr1h5	T	C	3: 102,856,380 (GRCm39)	K300E	probably benign	Het
Nuak2	T	C	1: 132,260,105 (GRCm39)	S628P	probably benign	Het
Nup214	G	T	2: 31,892,944 (GRCm39)	A721S	possibly damaging	Het
Or12e13	A	G	2: 87,663,385 (GRCm39)	M1V	probably null	Het
Or5d47	A	G	2: 87,804,931 (GRCm39)	V26A	probably benign	Het
Pclo	T	C	5: 14,726,457 (GRCm39)		probably benign	Het
Phf20	A	G	2: 156,065,320 (GRCm39)	S12G	probably benign	Het
Pik3r5	T	C	11: 68,382,826 (GRCm39)	Y289H	probably damaging	Het
Pld1	T	C	3: 28,149,954 (GRCm39)	I717T	probably damaging	Het
Plxdc1	A	G	11: 97,846,299 (GRCm39)	Y182H	probably damaging	Het
Ppid	A	G	3: 79,510,373 (GRCm39)	I354V	probably benign	Het
Prss2	T	C	6: 41,501,387 (GRCm39)	V152A	probably benign	Het
Rab28	C	T	5: 41,793,223 (GRCm39)	A141T	probably benign	Het
Rabgap1l	C	T	1: 160,472,877 (GRCm39)		probably null	Het
Rabl6	T	G	2: 25,475,415 (GRCm39)	S553R	probably damaging	Het
Rars1	A	G	11: 35,717,374 (GRCm39)	F170S	possibly damaging	Het
Ror2	T	A	13: 53,267,116 (GRCm39)	M440L	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsph4a	A	T	10: 33,785,139 (GRCm39)	Q350L	probably damaging	Het
Serpinb2	T	C	1: 107,450,869 (GRCm39)	F204L	probably damaging	Het
Sertad4	T	C	1: 192,533,257 (GRCm39)		probably null	Het
Shisa3	C	T	5: 67,768,486 (GRCm39)	P129S	probably benign	Het
Slc13a2	G	A	11: 78,295,534 (GRCm39)	L111F	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Stab2	T	A	10: 86,743,025 (GRCm39)	R1195W	probably damaging	Het
Syna	C	A	5: 134,588,968 (GRCm39)		probably benign	Het
Thada	A	T	17: 84,744,030 (GRCm39)	D759E	probably benign	Het
Thoc5	A	G	11: 4,869,753 (GRCm39)	Y385C	possibly damaging	Het
Thsd7a	C	T	6: 12,327,601 (GRCm39)	D1424N	probably damaging	Het
Thsd7b	A	T	1: 130,090,599 (GRCm39)	Q1204L	probably benign	Het
Tnfrsf8	T	C	4: 145,029,671 (GRCm39)	N43S	possibly damaging	Het
Trim66	T	C	7: 109,059,481 (GRCm39)	K921R	probably benign	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ugt2a2	T	G	5: 87,610,818 (GRCm39)	K339N	probably benign	Het
Vmn2r8	T	C	5: 108,947,211 (GRCm39)	T514A	probably benign	Het
Wrn	A	T	8: 33,774,682 (GRCm39)	M652K	possibly damaging	Het
Yme1l1	A	T	2: 23,083,184 (GRCm39)	Y550F	probably benign	Het
Zfp995	G	A	17: 22,099,269 (GRCm39)	P322S	probably 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
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
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'- CGTTGTTGGCTGGACAGAAG -3'
(R):5'- CTGACTTGTGCCAAGGTCAAG -3'

Sequencing Primer
(F):5'- GCACAGACACAGTGATCATCTG -3'
(R):5'- GAATTAACATGCTGTGCTGCACC -3'

Posted On

2018-02-28