Mutagenetix > Incidental Mutation

Incidental Mutation 'R5187:Cntrob'

397971

Institutional Source

Beutler Lab

Gene Symbol

Cntrob

Ensembl Gene

ENSMUSG00000032782

Gene Name

centrobin, centrosomal BRCA2 interacting protein

Synonyms

Lip8, 9830165K03Rik

MMRRC Submission

042766-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R5187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69299487-69323775 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 69321891 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 106 (Q106K)

Ref Sequence

ENSEMBL: ENSMUSP00000090651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018614] [ENSMUST00000060956] [ENSMUST00000092973] [ENSMUST00000102601] [ENSMUST00000102602] [ENSMUST00000108662] [ENSMUST00000123176]

AlphaFold

Q8CB62

Predicted Effect

probably benign
Transcript: ENSMUST00000018614

SMART Domains

Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470

Domain	Start	End	E-Value	Type
low complexity region	23	49	N/A	INTRINSIC
low complexity region	54	65	N/A	INTRINSIC
Pfam:Aldo_ket_red	92	396	1.6e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060956

SMART Domains

Protein: ENSMUSP00000050153
Gene: ENSMUSG00000049299

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	109	2.2e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092973
AA Change: Q106K

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782
AA Change: Q106K

Domain	Start	End	E-Value	Type
coiled coil region	191	218	N/A	INTRINSIC
coiled coil region	249	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102601

SMART Domains

Protein: ENSMUSP00000099661
Gene: ENSMUSG00000049299

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	137	1.4e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102602

SMART Domains

Protein: ENSMUSP00000099662
Gene: ENSMUSG00000049299

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	137	1.4e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108662

SMART Domains

Protein: ENSMUSP00000104302
Gene: ENSMUSG00000049299

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	127	2.2e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140555

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176111

Predicted Effect

probably benign
Transcript: ENSMUST00000176938

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,718,809	L620*	probably null	Het
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abcg5	A	G	17: 84,658,564	L628S	probably damaging	Het
Acbd3	C	T	1: 180,736,732	R201*	probably null	Het
Adsl	A	G	15: 80,948,905		probably benign	Het
Asic1	GCACC	GCACCACC	15: 99,698,803		probably benign	Het
Cachd1	T	C	4: 100,966,200	V483A	possibly damaging	Het
Calm1	T	C	12: 100,200,213	S19P	probably benign	Het
Casq1	T	C	1: 172,213,074	N313S	possibly damaging	Het
Cav2	G	T	6: 17,286,936	A64S	possibly damaging	Het
Ccdc114	A	G	7: 45,929,116	I77V	probably damaging	Het
Ccdc167	C	A	17: 29,705,511	A39S	possibly damaging	Het
Cd274	T	C	19: 29,382,536	L247P	probably benign	Het
Cdhr5	T	C	7: 141,274,448	E138G	probably damaging	Het
Cltb	C	T	13: 54,593,880	C81Y	probably benign	Het
Clvs1	T	C	4: 9,281,865	L103P	possibly damaging	Het
Ctsh	T	C	9: 90,054,590	L14P	probably damaging	Het
Cubn	T	C	2: 13,287,568	N3268S	probably damaging	Het
Cyb5r4	T	C	9: 87,026,948	V26A	possibly damaging	Het
Ddx18	A	G	1: 121,562,128	I184T	probably damaging	Het
Ddx60	T	A	8: 61,974,188	W766R	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnah5	G	A	15: 28,272,172	V1041I	probably benign	Het
Dnajc21	A	T	15: 10,463,964	N38K	probably benign	Het
Ermap	T	C	4: 119,185,818		probably null	Het
Fam129a	T	A	1: 151,703,829	L433Q	possibly damaging	Het
Fryl	A	G	5: 73,086,600	L1209P	possibly damaging	Het
Gm5093	T	C	17: 46,439,873	E76G	possibly damaging	Het
Grk6	T	C	13: 55,451,706	C169R	probably damaging	Het
Hmgn1	A	T	16: 96,122,427		probably null	Het
Lpcat2b	T	A	5: 107,434,135	Y443*	probably null	Het
Macf1	T	A	4: 123,472,089	M1395L	probably benign	Het
Mllt10	C	T	2: 18,208,774	Q997*	probably null	Het
Mocos	T	A	18: 24,692,554	V722E	probably damaging	Het
Moxd2	A	T	6: 40,879,337	L534M	probably benign	Het
Mphosph10	T	C	7: 64,385,820	M368V	possibly damaging	Het
Myo15	G	A	11: 60,503,614	G2383D	probably damaging	Het
Myo5b	T	C	18: 74,701,674	I935T	possibly damaging	Het
Ndst4	T	A	3: 125,437,911	L43H	probably damaging	Het
Nsl1	A	G	1: 191,075,190	N189D	probably benign	Het
Olfr558	A	T	7: 102,709,661	H134L	probably damaging	Het
Pcdh8	T	C	14: 79,770,154	D323G	probably damaging	Het
Pkhd1	A	G	1: 20,209,224	S2957P	possibly damaging	Het
Prdm9	T	G	17: 15,562,893	E42D	probably damaging	Het
Rasal1	C	A	5: 120,675,395	H611Q	probably benign	Het
Rif1	T	A	2: 52,081,289	W260R	probably damaging	Het
Rpain	A	G	11: 70,973,832	D115G	probably benign	Het
Rpl3l	T	C	17: 24,732,455	V110A	possibly damaging	Het
Ryr2	T	A	13: 11,772,452	I1012F	probably damaging	Het
Sema4f	A	G	6: 82,917,650	V480A	probably benign	Het
Slc35a3	T	A	3: 116,681,145	K199N	probably damaging	Het
Slc5a6	T	C	5: 31,042,978	Y121C	probably damaging	Het
Slc7a14	T	C	3: 31,237,365		probably null	Het
Sort1	T	A	3: 108,324,676	I172N	probably damaging	Het
Spink5	C	A	18: 43,989,451	H328N	probably damaging	Het
Tbl1xr1	A	G	3: 22,209,606	D504G	probably damaging	Het
Tcaf3	C	T	6: 42,597,020	C86Y	possibly damaging	Het
Tfap2e	T	C	4: 126,734,641	D174G	probably benign	Het
Tmem42	T	C	9: 123,022,167	V65A	probably damaging	Het
Vmn1r225	C	G	17: 20,502,915	T206R	probably damaging	Het
Vmn2r38	A	G	7: 9,097,572	F65S	probably benign	Het
Vmn2r87	A	T	10: 130,497,339	L14Q	probably null	Het
Xirp2	T	C	2: 67,515,367	S2651P	probably benign	Het
Zfp429	G	A	13: 67,390,840	L162F	probably damaging	Het
Zhx1	A	T	15: 58,052,423	M809K	probably damaging	Het

Other mutations in Cntrob

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02975:Cntrob	APN	11	69319373	missense	possibly damaging	0.66
IGL03173:Cntrob	APN	11	69310027	missense	possibly damaging	0.90
groats	UTSW	11	69309491	nonsense	probably null
BB005:Cntrob	UTSW	11	69300295	missense	probably damaging	0.97
BB015:Cntrob	UTSW	11	69300295	missense	probably damaging	0.97
R0270:Cntrob	UTSW	11	69311341	missense	possibly damaging	0.66
R0501:Cntrob	UTSW	11	69322868	missense	probably damaging	1.00
R1749:Cntrob	UTSW	11	69322874	missense	probably damaging	0.99
R1775:Cntrob	UTSW	11	69320867	missense	possibly damaging	0.90
R1900:Cntrob	UTSW	11	69308054	missense	probably benign	0.27
R1967:Cntrob	UTSW	11	69320963	missense	probably damaging	0.97
R2495:Cntrob	UTSW	11	69322923	missense	probably damaging	0.96
R3121:Cntrob	UTSW	11	69322700	nonsense	probably null
R3780:Cntrob	UTSW	11	69302882	missense	probably damaging	0.97
R4449:Cntrob	UTSW	11	69305549	missense	probably benign	0.29
R4696:Cntrob	UTSW	11	69320888	missense	probably damaging	1.00
R4841:Cntrob	UTSW	11	69315394	missense	possibly damaging	0.92
R4842:Cntrob	UTSW	11	69315394	missense	possibly damaging	0.92
R4908:Cntrob	UTSW	11	69320906	missense	probably damaging	0.97
R4982:Cntrob	UTSW	11	69311362	splice site	probably null
R5168:Cntrob	UTSW	11	69299990	missense	possibly damaging	0.66
R5307:Cntrob	UTSW	11	69314750	missense	possibly damaging	0.66
R5473:Cntrob	UTSW	11	69322753	missense	possibly damaging	0.81
R5903:Cntrob	UTSW	11	69309375	missense	possibly damaging	0.83
R6643:Cntrob	UTSW	11	69311422	missense	possibly damaging	0.46
R6742:Cntrob	UTSW	11	69322923	missense	probably damaging	0.96
R6964:Cntrob	UTSW	11	69309491	nonsense	probably null
R7020:Cntrob	UTSW	11	69303092	critical splice donor site	probably null
R7425:Cntrob	UTSW	11	69314734	nonsense	probably null
R7928:Cntrob	UTSW	11	69300295	missense	probably damaging	0.97
R7946:Cntrob	UTSW	11	69315221	missense	possibly damaging	0.82
R8348:Cntrob	UTSW	11	69299853	missense	unknown
R8448:Cntrob	UTSW	11	69299853	missense	unknown
R8539:Cntrob	UTSW	11	69320826	missense	possibly damaging	0.94
R9259:Cntrob	UTSW	11	69320839	missense	possibly damaging	0.81
R9415:Cntrob	UTSW	11	69302915	missense	possibly damaging	0.66
R9553:Cntrob	UTSW	11	69314853	missense	probably benign	0.00
R9626:Cntrob	UTSW	11	69311341	missense	possibly damaging	0.66
R9628:Cntrob	UTSW	11	69322956	missense	possibly damaging	0.66
R9801:Cntrob	UTSW	11	69321407	missense	possibly damaging	0.82
Z1177:Cntrob	UTSW	11	69311449	missense	possibly damaging	0.66
Z1186:Cntrob	UTSW	11	69305578	missense	probably benign
Z1186:Cntrob	UTSW	11	69308056	missense	probably benign	0.23
Z1187:Cntrob	UTSW	11	69308056	missense	probably benign	0.23
Z1187:Cntrob	UTSW	11	69305578	missense	probably benign
Z1188:Cntrob	UTSW	11	69305578	missense	probably benign
Z1188:Cntrob	UTSW	11	69308056	missense	probably benign	0.23
Z1189:Cntrob	UTSW	11	69308056	missense	probably benign	0.23
Z1189:Cntrob	UTSW	11	69305578	missense	probably benign
Z1190:Cntrob	UTSW	11	69305578	missense	probably benign
Z1190:Cntrob	UTSW	11	69308056	missense	probably benign	0.23
Z1191:Cntrob	UTSW	11	69308056	missense	probably benign	0.23
Z1191:Cntrob	UTSW	11	69305578	missense	probably benign
Z1192:Cntrob	UTSW	11	69305578	missense	probably benign
Z1192:Cntrob	UTSW	11	69308056	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- AAGAGGCCCTTCCAGTTCAG -3'
(R):5'- TCAAGGTGAAGCCGGGTTTG -3'

Sequencing Primer
(F):5'- CACTGGATCTCATTGCAGATAGCTG -3'
(R):5'- AAGCCGGGTTTGAGTGCC -3'

Posted On

2016-07-06