Mutagenetix > Incidental Mutation

Incidental Mutation 'R9260:Cimap2'

702163

Institutional Source

Beutler Lab

Gene Symbol

Cimap2

Ensembl Gene

ENSMUSG00000054362

Gene Name

ciliary microtubule associated protein 2

Synonyms

BC055111, Lexm

MMRRC Submission

068962-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R9260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106448106-106474438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106472634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 84 (K84E)

Ref Sequence

ENSEMBL: ENSMUSP00000139868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067387] [ENSMUST00000106788] [ENSMUST00000189032]

AlphaFold

A2AVQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000067387
AA Change: K84E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000066732
Gene: ENSMUSG00000054362
AA Change: K84E

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	63	83	1.3e-2	PFAM
Pfam:SHIPPO-rpt	119	152	3.5e-4	PFAM
low complexity region	157	173	N/A	INTRINSIC
Pfam:SHIPPO-rpt	205	240	4.3e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106788
AA Change: K84E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102400
Gene: ENSMUSG00000054362
AA Change: K84E

Domain	Start	End	E-Value	Type
internal_repeat_1	62	146	2.56e-5	PROSPERO
low complexity region	157	173	N/A	INTRINSIC
internal_repeat_1	204	279	2.56e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000189032
AA Change: K84E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139868
Gene: ENSMUSG00000054362
AA Change: K84E

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	63	83	1.3e-2	PFAM
Pfam:SHIPPO-rpt	119	152	3.5e-4	PFAM
low complexity region	157	173	N/A	INTRINSIC
Pfam:SHIPPO-rpt	205	240	4.3e-3	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (77/77)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Heterozygous null mice show decreased CD8-positive, alpha-beta T cell number and decreased cytotoxic T cell cytolysis in response to lymphocytic choriomeningitis virus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1a4	A	G	1: 172,074,359 (GRCm39)	I298T	probably damaging	Het
Bmper	T	A	9: 23,318,016 (GRCm39)	L545H	probably benign	Het
Cacnb3	A	G	15: 98,537,438 (GRCm39)	S39G	probably benign	Het
Casr	T	C	16: 36,330,326 (GRCm39)	K336R	probably benign	Het
Ccdc141	C	A	2: 76,844,795 (GRCm39)	G1424V	probably damaging	Het
Cd101	A	T	3: 100,920,599 (GRCm39)	D437E	probably benign	Het
Chadl	A	G	15: 81,578,058 (GRCm39)	S524P	probably damaging	Het
Clec4a4	C	T	6: 123,000,895 (GRCm39)	R203*	probably null	Het
Cntnap4	A	G	8: 113,500,276 (GRCm39)	I523V	probably benign	Het
Cpb1	T	A	3: 20,316,638 (GRCm39)	Y304F	probably damaging	Het
Dnajc14	T	G	10: 128,642,766 (GRCm39)	S229R	possibly damaging	Het
Dnajc15	A	G	14: 78,081,839 (GRCm39)	V101A	possibly damaging	Het
Dpyd	A	T	3: 119,108,447 (GRCm39)	Y830F	possibly damaging	Het
Ehbp1l1	A	G	19: 5,769,278 (GRCm39)	V675A	probably benign	Het
F10	G	A	8: 13,105,638 (GRCm39)	C413Y	probably damaging	Het
Fam47e	C	T	5: 92,735,384 (GRCm39)	L206F	probably damaging	Het
Fpr1	A	T	17: 18,098,006 (GRCm39)		probably benign	Het
Frem2	G	C	3: 53,560,204 (GRCm39)	S1434R	probably damaging	Het
Gli3	G	T	13: 15,899,675 (GRCm39)	V1021F	probably damaging	Het
Gm7168	A	T	17: 14,169,488 (GRCm39)	N285I	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Herc1	T	A	9: 66,325,691 (GRCm39)	C1388*	probably null	Het
Hikeshi	T	C	7: 89,579,776 (GRCm39)		probably benign	Het
Hjv	T	A	3: 96,435,579 (GRCm39)	I279N	probably damaging	Het
Igfn1	T	C	1: 135,907,694 (GRCm39)	E217G	probably benign	Het
Ighv1-59	T	C	12: 115,298,737 (GRCm39)	T106A	probably benign	Het
Igkv6-23	T	A	6: 70,237,457 (GRCm39)	I95F	probably damaging	Het
Il31ra	A	T	13: 112,668,202 (GRCm39)	S456T	probably damaging	Het
Ints3	T	C	3: 90,308,468 (GRCm39)	D610G	probably damaging	Het
Iqcg	G	A	16: 32,855,973 (GRCm39)	Q201*	probably null	Het
Kat14	T	A	2: 144,235,441 (GRCm39)	D300E	probably benign	Het
Kbtbd13	T	C	9: 65,298,852 (GRCm39)	H28R	possibly damaging	Het
Kcnh2	A	T	5: 24,528,069 (GRCm39)	D866E	probably damaging	Het
Kdm4b	A	G	17: 56,701,775 (GRCm39)	T595A	probably benign	Het
Lct	C	T	1: 128,227,704 (GRCm39)	W1263*	probably null	Het
Micall2	T	A	5: 139,695,453 (GRCm39)	M905L	unknown	Het
Mkrn1	T	C	6: 39,382,530 (GRCm39)		probably benign	Het
Mobp	A	G	9: 119,997,572 (GRCm39)	T164A	unknown	Het
Mtrr	T	C	13: 68,728,674 (GRCm39)	E42G	possibly damaging	Het
Muc5b	T	A	7: 141,405,255 (GRCm39)	W888R	unknown	Het
Myh7	G	A	14: 55,224,842 (GRCm39)	A575V	probably damaging	Het
Nbea	A	C	3: 55,891,233 (GRCm39)	L1612W	possibly damaging	Het
Notch3	A	G	17: 32,362,216 (GRCm39)		probably null	Het
Nsun4	T	C	4: 115,902,007 (GRCm39)	Y153C	probably damaging	Het
Nup210	A	G	6: 91,039,785 (GRCm39)	I690T	probably benign	Het
Nyap2	T	A	1: 81,064,835 (GRCm39)		probably benign	Het
Oaz1	T	A	10: 80,662,603 (GRCm39)	S4T	possibly damaging	Het
Optn	C	T	2: 5,045,076 (GRCm39)	C222Y	probably benign	Het
Or11i1	A	G	3: 106,729,510 (GRCm39)	S122P	probably damaging	Het
Or4f17-ps1	T	A	2: 111,358,271 (GRCm39)	V222E		Het
Or5ac19	T	C	16: 59,089,677 (GRCm39)	M118V	probably damaging	Het
Or6c76b	G	A	10: 129,692,458 (GRCm39)	V24M	probably benign	Het
Or7a40	A	T	16: 16,491,337 (GRCm39)	C169*	probably null	Het
Osmr	T	A	15: 6,882,033 (GRCm39)	H37L	probably benign	Het
Pccb	G	T	9: 100,877,643 (GRCm39)	P287Q	probably benign	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Pdcd6ip	A	T	9: 113,526,572 (GRCm39)		probably null	Het
Pde9a	T	C	17: 31,678,137 (GRCm39)		probably null	Het
Pdk2	C	A	11: 94,930,260 (GRCm39)	V59F	probably damaging	Het
Pgm1	T	A	4: 99,827,186 (GRCm39)	V362E	probably damaging	Het
Pmepa1	CCGGCGGCGGCGGCGGCGG	CCGGCGGCGGCGGCGG	2: 173,117,943 (GRCm39)		probably benign	Het
Pold4	T	C	19: 4,282,904 (GRCm39)	F97S	possibly damaging	Het
Ppp5c	C	T	7: 16,740,886 (GRCm39)	V361I	probably benign	Het
Prrt1	A	G	17: 34,850,120 (GRCm39)	Y178C	probably damaging	Het
Psmb11	A	T	14: 54,863,033 (GRCm39)	I84F	probably damaging	Het
Smg7	A	G	1: 152,737,549 (GRCm39)	S131P	probably damaging	Het
Snrnp200	T	A	2: 127,078,428 (GRCm39)	L1728Q	probably damaging	Het
Stbd1	A	T	5: 92,753,456 (GRCm39)	E315D	probably damaging	Het
Tcaf1	C	T	6: 42,663,554 (GRCm39)	G109R	possibly damaging	Het
Thap12	C	T	7: 98,356,280 (GRCm39)	R56*	probably null	Het
Ttn	T	C	2: 76,645,919 (GRCm39)	E12848G	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Uqcrfs1	G	A	13: 30,725,108 (GRCm39)	A144V	probably damaging	Het
Usp13	T	A	3: 32,955,909 (GRCm39)		probably benign	Het
Wdr19	T	A	5: 65,363,789 (GRCm39)	D67E	possibly damaging	Het
Zfp998	A	T	13: 66,579,375 (GRCm39)	H369Q	unknown	Het
Zkscan3	A	T	13: 21,578,210 (GRCm39)	W226R	probably damaging	Het
Zmym5	A	C	14: 57,041,641 (GRCm39)	F154C	probably damaging	Het

Other mutations in Cimap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02576:Cimap2	APN	4	106,448,825 (GRCm39)	missense	possibly damaging	0.86
IGL02583:Cimap2	APN	4	106,468,602 (GRCm39)	splice site	probably benign
IGL03329:Cimap2	APN	4	106,464,601 (GRCm39)	missense	possibly damaging	0.92
R0294:Cimap2	UTSW	4	106,470,361 (GRCm39)	missense	probably damaging	1.00
R1875:Cimap2	UTSW	4	106,470,453 (GRCm39)	splice site	probably benign
R2960:Cimap2	UTSW	4	106,470,615 (GRCm39)	missense	probably damaging	1.00
R4654:Cimap2	UTSW	4	106,467,612 (GRCm39)	missense	probably benign	0.03
R4836:Cimap2	UTSW	4	106,467,724 (GRCm39)	critical splice acceptor site	probably null
R5436:Cimap2	UTSW	4	106,467,690 (GRCm39)	missense	probably benign	0.00
R6086:Cimap2	UTSW	4	106,470,403 (GRCm39)	missense	probably damaging	1.00
R6580:Cimap2	UTSW	4	106,468,711 (GRCm39)	missense	possibly damaging	0.73
R6952:Cimap2	UTSW	4	106,467,596 (GRCm39)	critical splice donor site	probably null
R7995:Cimap2	UTSW	4	106,473,112 (GRCm39)	missense	probably benign	0.33
R8118:Cimap2	UTSW	4	106,470,595 (GRCm39)	missense	possibly damaging	0.92
R8258:Cimap2	UTSW	4	106,448,859 (GRCm39)	missense	probably damaging	1.00
Z1176:Cimap2	UTSW	4	106,464,497 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TCCAAGAGGAAGCTGTATCCAC -3'
(R):5'- TCTTGAGTGCTGAGCTCCTC -3'

Sequencing Primer
(F):5'- TCCACTAGGACTCTGGAGGGATAG -3'
(R):5'- GTCGTCAGACTGGGGAACTGTC -3'

Posted On

2022-03-25