Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Morc2b'

49348

Institutional Source

Beutler Lab

Gene Symbol

Morc2b

Ensembl Gene

ENSMUSG00000048602

Gene Name

microrchidia 2B

Synonyms

MMRRC Submission

038725-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.365) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33135588-33139683 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to C at 33135932 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 955 (Y955*)

Ref Sequence

ENSEMBL: ENSMUSP00000123354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053896] [ENSMUST00000131954]

AlphaFold

Q8C5W4

Predicted Effect

probably null
Transcript: ENSMUST00000053896
AA Change: Y955*

SMART Domains

Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: Y955*

Domain	Start	End	E-Value	Type
HATPase_c	24	134	5.78e0	SMART
coiled coil region	285	321	N/A	INTRINSIC
Pfam:zf-CW	495	541	1.9e-16	PFAM
coiled coil region	555	584	N/A	INTRINSIC
low complexity region	680	695	N/A	INTRINSIC
coiled coil region	961	1001	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000131954
AA Change: Y955*

SMART Domains

Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: Y955*

Domain	Start	End	E-Value	Type
HATPase_c	24	134	5.78e0	SMART
coiled coil region	285	321	N/A	INTRINSIC
Pfam:zf-CW	494	543	7.7e-18	PFAM
coiled coil region	555	584	N/A	INTRINSIC
low complexity region	680	695	N/A	INTRINSIC
coiled coil region	961	1001	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with failure of chromosomal synapsis, double strand break repair, and recombination in meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,531,763		probably benign	Het
Abcb1b	A	T	5: 8,864,113		probably null	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Arpp21	A	G	9: 112,126,505	V522A	probably benign	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
Fam83a	T	A	15: 58,009,811	N345K	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm13089	G	T	4: 143,698,020	C284*	probably null	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hid1	A	T	11: 115,348,809	I765N	probably damaging	Het
Hmmr	A	G	11: 40,709,989	V518A	unknown	Het
Itgb6	A	G	2: 60,669,197	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neil3	A	T	8: 53,638,775		probably null	Het
Nrg1	T	C	8: 31,831,245		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,372,774	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ttll6	G	A	11: 96,154,756	A600T	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Vstm2a	C	T	11: 16,263,041	A142V	probably damaging	Het
Wfs1	T	A	5: 36,973,722		probably benign	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	Het

Other mutations in Morc2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Morc2b	APN	17	33137319	missense	possibly damaging	0.47
IGL01369:Morc2b	APN	17	33138165	missense	probably benign	0.12
IGL01533:Morc2b	APN	17	33135721	utr 3 prime	probably benign
IGL02003:Morc2b	APN	17	33138324	missense	probably benign	0.07
IGL02028:Morc2b	APN	17	33137413	missense	possibly damaging	0.78
IGL02152:Morc2b	APN	17	33137943	missense	probably damaging	1.00
IGL02341:Morc2b	APN	17	33137307	missense	probably damaging	1.00
IGL02976:Morc2b	APN	17	33137523	missense	possibly damaging	0.90
IGL03293:Morc2b	APN	17	33138363	missense	probably damaging	1.00
twinkle	UTSW	17	33135932	nonsense	probably null
PIT4283001:Morc2b	UTSW	17	33136068	missense	probably benign	0.00
R0056:Morc2b	UTSW	17	33138759	missense	possibly damaging	0.78
R0116:Morc2b	UTSW	17	33137041	missense	probably damaging	1.00
R0179:Morc2b	UTSW	17	33136982	nonsense	probably null
R0556:Morc2b	UTSW	17	33137838	missense	probably benign	0.05
R0629:Morc2b	UTSW	17	33135807	missense	probably benign	0.00
R0635:Morc2b	UTSW	17	33137687	missense	possibly damaging	0.90
R0840:Morc2b	UTSW	17	33136112	missense	probably benign	0.01
R1205:Morc2b	UTSW	17	33135934	missense	probably damaging	1.00
R1566:Morc2b	UTSW	17	33136974	missense	probably benign	0.02
R1676:Morc2b	UTSW	17	33135981	missense	possibly damaging	0.82
R1892:Morc2b	UTSW	17	33135774	missense	probably damaging	1.00
R1954:Morc2b	UTSW	17	33137490	missense	probably damaging	1.00
R1955:Morc2b	UTSW	17	33137490	missense	probably damaging	1.00
R1969:Morc2b	UTSW	17	33137091	missense	probably benign	0.00
R2069:Morc2b	UTSW	17	33136760	missense	probably benign	0.13
R3609:Morc2b	UTSW	17	33136278	missense	probably damaging	1.00
R3610:Morc2b	UTSW	17	33136278	missense	probably damaging	1.00
R3831:Morc2b	UTSW	17	33137259	missense	probably benign	0.01
R4156:Morc2b	UTSW	17	33138427	missense	probably benign	0.43
R4243:Morc2b	UTSW	17	33136401	missense	probably benign	0.03
R4877:Morc2b	UTSW	17	33138738	missense	probably benign	0.26
R4911:Morc2b	UTSW	17	33137377	missense	probably damaging	1.00
R5230:Morc2b	UTSW	17	33136252	missense	probably benign	0.00
R5264:Morc2b	UTSW	17	33138379	missense	probably benign	0.03
R5326:Morc2b	UTSW	17	33136933	missense	probably benign	0.01
R5455:Morc2b	UTSW	17	33138610	missense	probably benign	0.29
R5933:Morc2b	UTSW	17	33138609	missense	possibly damaging	0.84
R5973:Morc2b	UTSW	17	33137472	missense	probably damaging	0.97
R6026:Morc2b	UTSW	17	33137983	missense	possibly damaging	0.55
R6113:Morc2b	UTSW	17	33138068	nonsense	probably null
R6393:Morc2b	UTSW	17	33137776	missense	probably damaging	0.97
R7066:Morc2b	UTSW	17	33136636	missense	probably benign	0.00
R7117:Morc2b	UTSW	17	33137952	missense	probably benign	0.00
R7120:Morc2b	UTSW	17	33135813	missense	probably damaging	1.00
R7130:Morc2b	UTSW	17	33136288	missense	possibly damaging	0.68
R7498:Morc2b	UTSW	17	33137859	missense	possibly damaging	0.55
R7516:Morc2b	UTSW	17	33137461	missense	probably benign	0.03
R7664:Morc2b	UTSW	17	33136402	missense	probably benign	0.12
R7754:Morc2b	UTSW	17	33137244	missense	probably benign	0.33
R7756:Morc2b	UTSW	17	33137007	missense	probably damaging	1.00
R7758:Morc2b	UTSW	17	33137007	missense	probably damaging	1.00
R7766:Morc2b	UTSW	17	33138423	missense	probably benign	0.19
R7957:Morc2b	UTSW	17	33135773	missense	probably benign	0.39
R7965:Morc2b	UTSW	17	33135772	missense	possibly damaging	0.91
R8164:Morc2b	UTSW	17	33138040	missense	probably damaging	0.99
R8283:Morc2b	UTSW	17	33136701	missense	probably benign	0.00
R8338:Morc2b	UTSW	17	33136413	missense	probably benign
R8349:Morc2b	UTSW	17	33136801	missense	probably benign	0.13
R8352:Morc2b	UTSW	17	33137502	missense	probably damaging	1.00
R8362:Morc2b	UTSW	17	33138321	missense	possibly damaging	0.91
R8364:Morc2b	UTSW	17	33138240	missense	probably benign	0.01
R8449:Morc2b	UTSW	17	33136801	missense	probably benign	0.13
R8452:Morc2b	UTSW	17	33137502	missense	probably damaging	1.00
R8476:Morc2b	UTSW	17	33135859	missense	possibly damaging	0.87
R8844:Morc2b	UTSW	17	33135768	missense	probably damaging	1.00
R9277:Morc2b	UTSW	17	33136023	missense	probably benign	0.10
R9571:Morc2b	UTSW	17	33136204	missense	probably benign	0.00
Z1088:Morc2b	UTSW	17	33136086	missense	possibly damaging	0.49
Z1177:Morc2b	UTSW	17	33137402	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCATCTAGCTCATCATCTGCCC -3'
(R):5'- GAATGCTTCTGCACTGAACCCGAC -3'

Sequencing Primer
(F):5'- CTGATGTTTATGCCCTGCTGAG -3'
(R):5'- ACAAGACCATTGACCTCTTGG -3'

Posted On

2013-06-12