Mutagenetix > Incidental Mutation

Incidental Mutation 'R1205:Morc2b'

100453

Institutional Source

Beutler Lab

Gene Symbol

Morc2b

Ensembl Gene

ENSMUSG00000048602

Gene Name

microrchidia 2B

Synonyms

4932411A10Rik

MMRRC Submission

039275-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R1205 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33354562-33369473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33354908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 955 (Y955H)

Ref Sequence

ENSEMBL: ENSMUSP00000123354 (fasta)

Gene Model

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

AlphaFold

Q8C5W4

Predicted Effect

probably damaging
Transcript: ENSMUST00000053896
AA Change: Y955H

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

SMART Domains

Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: Y955H

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 damaging
Transcript: ENSMUST00000131954
AA Change: Y955H

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

SMART Domains

Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: Y955H

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.9%

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	T	A	10: 14,310,083 (GRCm39)	N774I	probably damaging	Het
Bpifc	T	A	10: 85,817,168 (GRCm39)	D230V	probably damaging	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Duox1	C	T	2: 122,158,406 (GRCm39)	Q630*	probably null	Het
Dzip3	C	T	16: 48,772,044 (GRCm39)	G542R	probably damaging	Het
Epha3	ATGAACTGCT	AT	16: 63,418,611 (GRCm39)		probably null	Het
Fnip1	G	T	11: 54,393,132 (GRCm39)	V523L	possibly damaging	Het
Hc	T	A	2: 34,893,536 (GRCm39)	D1225V	possibly damaging	Het
Hnrnpu	C	T	1: 178,159,734 (GRCm39)		probably benign	Het
Ift172	C	T	5: 31,443,136 (GRCm39)	V125I	probably benign	Het
Kcnip2	T	A	19: 45,783,422 (GRCm39)	Q93L	probably null	Het
Kif27	A	T	13: 58,492,019 (GRCm39)	H373Q	probably benign	Het
Kl	T	C	5: 150,904,153 (GRCm39)	S302P	probably damaging	Het
Lyst	G	A	13: 13,854,787 (GRCm39)	V2386I	probably benign	Het
Map4k4	G	A	1: 40,043,004 (GRCm39)	A128T	probably damaging	Het
Marchf6	A	C	15: 31,469,819 (GRCm39)	M717R	probably benign	Het
Myo7b	A	G	18: 32,127,395 (GRCm39)	S636P	probably damaging	Het
Neb	T	A	2: 52,112,996 (GRCm39)	D4266V	probably damaging	Het
Nynrin	G	A	14: 56,091,646 (GRCm39)		probably benign	Het
Or1j18	G	A	2: 36,624,767 (GRCm39)	V145I	probably benign	Het
Or4c107	A	T	2: 88,788,932 (GRCm39)	I41L	probably benign	Het
Or5b104	T	C	19: 13,072,899 (GRCm39)	I38V	probably benign	Het
Pcdh9	A	G	14: 94,123,501 (GRCm39)	S890P	probably benign	Het
Pcnx1	G	T	12: 82,003,017 (GRCm39)	D1052Y	probably damaging	Het
Pibf1	G	A	14: 99,338,639 (GRCm39)	E52K	probably damaging	Het
Siglec1	T	G	2: 130,922,384 (GRCm39)	S564R	possibly damaging	Het
Sin3a	T	A	9: 57,026,459 (GRCm39)	V1125E	probably damaging	Het
Slco4c1	G	T	1: 96,795,613 (GRCm39)	D148E	probably damaging	Het
Spag6l	A	T	16: 16,605,171 (GRCm39)	L127Q	probably damaging	Het
Syne4	C	A	7: 30,014,761 (GRCm39)	T68N	probably damaging	Het
Tas2r134	A	G	2: 51,517,998 (GRCm39)	Y159C	probably benign	Het
Tasor	A	T	14: 27,183,275 (GRCm39)	D578V	probably damaging	Het
Thoc2l	T	C	5: 104,668,079 (GRCm39)	L867S	probably benign	Het
Tmem132a	C	A	19: 10,836,448 (GRCm39)	R694L	probably benign	Het
Ttc28	C	T	5: 111,433,635 (GRCm39)	P2192L	probably benign	Het
Ttc34	T	G	4: 154,946,671 (GRCm39)	V857G	probably benign	Het
Ugt1a7c	A	T	1: 88,023,678 (GRCm39)	H279L	probably benign	Het
Vmn1r32	G	A	6: 66,530,539 (GRCm39)	T79I	probably benign	Het
Vps13a	A	T	19: 16,617,905 (GRCm39)	V2960D	probably damaging	Het
Wee2	G	T	6: 40,420,875 (GRCm39)		probably benign	Het

Other mutations in Morc2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Morc2b	APN	17	33,356,293 (GRCm39)	missense	possibly damaging	0.47
IGL01369:Morc2b	APN	17	33,357,139 (GRCm39)	missense	probably benign	0.12
IGL01533:Morc2b	APN	17	33,354,695 (GRCm39)	utr 3 prime	probably benign
IGL02003:Morc2b	APN	17	33,357,298 (GRCm39)	missense	probably benign	0.07
IGL02028:Morc2b	APN	17	33,356,387 (GRCm39)	missense	possibly damaging	0.78
IGL02152:Morc2b	APN	17	33,356,917 (GRCm39)	missense	probably damaging	1.00
IGL02341:Morc2b	APN	17	33,356,281 (GRCm39)	missense	probably damaging	1.00
IGL02976:Morc2b	APN	17	33,356,497 (GRCm39)	missense	possibly damaging	0.90
IGL03293:Morc2b	APN	17	33,357,337 (GRCm39)	missense	probably damaging	1.00
twinkle	UTSW	17	33,354,906 (GRCm39)	nonsense	probably null
PIT4283001:Morc2b	UTSW	17	33,355,042 (GRCm39)	missense	probably benign	0.00
R0056:Morc2b	UTSW	17	33,357,733 (GRCm39)	missense	possibly damaging	0.78
R0116:Morc2b	UTSW	17	33,356,015 (GRCm39)	missense	probably damaging	1.00
R0179:Morc2b	UTSW	17	33,355,956 (GRCm39)	nonsense	probably null
R0533:Morc2b	UTSW	17	33,354,906 (GRCm39)	nonsense	probably null
R0556:Morc2b	UTSW	17	33,356,812 (GRCm39)	missense	probably benign	0.05
R0629:Morc2b	UTSW	17	33,354,781 (GRCm39)	missense	probably benign	0.00
R0635:Morc2b	UTSW	17	33,356,661 (GRCm39)	missense	possibly damaging	0.90
R0840:Morc2b	UTSW	17	33,355,086 (GRCm39)	missense	probably benign	0.01
R1566:Morc2b	UTSW	17	33,355,948 (GRCm39)	missense	probably benign	0.02
R1676:Morc2b	UTSW	17	33,354,955 (GRCm39)	missense	possibly damaging	0.82
R1892:Morc2b	UTSW	17	33,354,748 (GRCm39)	missense	probably damaging	1.00
R1954:Morc2b	UTSW	17	33,356,464 (GRCm39)	missense	probably damaging	1.00
R1955:Morc2b	UTSW	17	33,356,464 (GRCm39)	missense	probably damaging	1.00
R1969:Morc2b	UTSW	17	33,356,065 (GRCm39)	missense	probably benign	0.00
R2069:Morc2b	UTSW	17	33,355,734 (GRCm39)	missense	probably benign	0.13
R3609:Morc2b	UTSW	17	33,355,252 (GRCm39)	missense	probably damaging	1.00
R3610:Morc2b	UTSW	17	33,355,252 (GRCm39)	missense	probably damaging	1.00
R3831:Morc2b	UTSW	17	33,356,233 (GRCm39)	missense	probably benign	0.01
R4156:Morc2b	UTSW	17	33,357,401 (GRCm39)	missense	probably benign	0.43
R4243:Morc2b	UTSW	17	33,355,375 (GRCm39)	missense	probably benign	0.03
R4877:Morc2b	UTSW	17	33,357,712 (GRCm39)	missense	probably benign	0.26
R4911:Morc2b	UTSW	17	33,356,351 (GRCm39)	missense	probably damaging	1.00
R5230:Morc2b	UTSW	17	33,355,226 (GRCm39)	missense	probably benign	0.00
R5264:Morc2b	UTSW	17	33,357,353 (GRCm39)	missense	probably benign	0.03
R5326:Morc2b	UTSW	17	33,355,907 (GRCm39)	missense	probably benign	0.01
R5455:Morc2b	UTSW	17	33,357,584 (GRCm39)	missense	probably benign	0.29
R5933:Morc2b	UTSW	17	33,357,583 (GRCm39)	missense	possibly damaging	0.84
R5973:Morc2b	UTSW	17	33,356,446 (GRCm39)	missense	probably damaging	0.97
R6026:Morc2b	UTSW	17	33,356,957 (GRCm39)	missense	possibly damaging	0.55
R6113:Morc2b	UTSW	17	33,357,042 (GRCm39)	nonsense	probably null
R6393:Morc2b	UTSW	17	33,356,750 (GRCm39)	missense	probably damaging	0.97
R7066:Morc2b	UTSW	17	33,355,610 (GRCm39)	missense	probably benign	0.00
R7117:Morc2b	UTSW	17	33,356,926 (GRCm39)	missense	probably benign	0.00
R7120:Morc2b	UTSW	17	33,354,787 (GRCm39)	missense	probably damaging	1.00
R7130:Morc2b	UTSW	17	33,355,262 (GRCm39)	missense	possibly damaging	0.68
R7498:Morc2b	UTSW	17	33,356,833 (GRCm39)	missense	possibly damaging	0.55
R7516:Morc2b	UTSW	17	33,356,435 (GRCm39)	missense	probably benign	0.03
R7664:Morc2b	UTSW	17	33,355,376 (GRCm39)	missense	probably benign	0.12
R7754:Morc2b	UTSW	17	33,356,218 (GRCm39)	missense	probably benign	0.33
R7756:Morc2b	UTSW	17	33,355,981 (GRCm39)	missense	probably damaging	1.00
R7758:Morc2b	UTSW	17	33,355,981 (GRCm39)	missense	probably damaging	1.00
R7766:Morc2b	UTSW	17	33,357,397 (GRCm39)	missense	probably benign	0.19
R7957:Morc2b	UTSW	17	33,354,747 (GRCm39)	missense	probably benign	0.39
R7965:Morc2b	UTSW	17	33,354,746 (GRCm39)	missense	possibly damaging	0.91
R8164:Morc2b	UTSW	17	33,357,014 (GRCm39)	missense	probably damaging	0.99
R8283:Morc2b	UTSW	17	33,355,675 (GRCm39)	missense	probably benign	0.00
R8338:Morc2b	UTSW	17	33,355,387 (GRCm39)	missense	probably benign
R8349:Morc2b	UTSW	17	33,355,775 (GRCm39)	missense	probably benign	0.13
R8352:Morc2b	UTSW	17	33,356,476 (GRCm39)	missense	probably damaging	1.00
R8362:Morc2b	UTSW	17	33,357,295 (GRCm39)	missense	possibly damaging	0.91
R8364:Morc2b	UTSW	17	33,357,214 (GRCm39)	missense	probably benign	0.01
R8449:Morc2b	UTSW	17	33,355,775 (GRCm39)	missense	probably benign	0.13
R8452:Morc2b	UTSW	17	33,356,476 (GRCm39)	missense	probably damaging	1.00
R8476:Morc2b	UTSW	17	33,354,833 (GRCm39)	missense	possibly damaging	0.87
R8844:Morc2b	UTSW	17	33,354,742 (GRCm39)	missense	probably damaging	1.00
R9277:Morc2b	UTSW	17	33,354,997 (GRCm39)	missense	probably benign	0.10
R9571:Morc2b	UTSW	17	33,355,178 (GRCm39)	missense	probably benign	0.00
Z1088:Morc2b	UTSW	17	33,355,060 (GRCm39)	missense	possibly damaging	0.49
Z1177:Morc2b	UTSW	17	33,356,376 (GRCm39)	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'- TGAACCCGACACTACTGCC -3'

Posted On

2014-01-15