Mutagenetix > Incidental Mutation

Incidental Mutation 'R7765:Rad51b'

598199

Institutional Source

Beutler Lab

Gene Symbol

Rad51b

Ensembl Gene

ENSMUSG00000059060

Gene Name

RAD51 paralog B

Synonyms

R51H2, mREC2, Rad51l1, Rad51b

MMRRC Submission

045821-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79344056-79861464 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 79850044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171210] [ENSMUST00000218039]

AlphaFold

O35719

Predicted Effect

probably null
Transcript: ENSMUST00000171210

SMART Domains

Protein: ENSMUSP00000128357
Gene: ENSMUSG00000059060

Domain	Start	End	E-Value	Type
Pfam:Rad51	61	256	3e-33	PFAM
Pfam:AAA_25	68	241	2.8e-16	PFAM
Pfam:KaiC	83	241	3.6e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000218039

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016]
PHENOTYPE: Embryos homozygous for a knock-out allele are severely growth retarded and exhibit complete early embryonic lethality; interestingly, mutant embryos survive and develop further in a Trp53-null background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	C	14: 66,297,345 (GRCm39)	E187G	probably damaging	Het
Adam28	C	T	14: 68,846,555 (GRCm39)		probably null	Het
Ap2a1	G	A	7: 44,559,160 (GRCm39)	T189M	probably damaging	Het
Apaf1	A	G	10: 90,859,644 (GRCm39)	Y845H	probably benign	Het
Asb14	G	T	14: 26,619,718 (GRCm39)	V55F	probably benign	Het
Brap	A	T	5: 121,800,192 (GRCm39)	D71V	probably damaging	Het
Ccdc93	T	G	1: 121,427,042 (GRCm39)	F610V	probably damaging	Het
Cfap46	T	G	7: 139,231,480 (GRCm39)	D911A		Het
Chn2	T	C	6: 54,275,137 (GRCm39)		probably null	Het
Cib3	A	G	8: 72,958,269 (GRCm39)	F156S	probably damaging	Het
Csnk2a1-ps3	G	A	1: 156,352,354 (GRCm39)	G185D	possibly damaging	Het
Ctif	A	T	18: 75,738,715 (GRCm39)	V164D	probably damaging	Het
Ddx27	T	A	2: 166,869,879 (GRCm39)	F405I	probably damaging	Het
Dnttip2	A	G	3: 122,069,594 (GRCm39)	T270A	probably benign	Het
Dst	T	A	1: 34,314,775 (GRCm39)	S4455T	probably damaging	Het
Efcab8	A	G	2: 153,685,110 (GRCm39)	K47R		Het
Efhd2	T	C	4: 141,601,886 (GRCm39)	E98G	probably damaging	Het
Fcmr	T	A	1: 130,802,025 (GRCm39)	L93Q	probably damaging	Het
Fhdc1	T	A	3: 84,351,906 (GRCm39)	E1106D	probably benign	Het
Gcnt1	C	T	19: 17,306,723 (GRCm39)	G334D	probably damaging	Het
Hltf	T	C	3: 20,145,647 (GRCm39)	F488L	probably benign	Het
Hmgxb4	C	A	8: 75,727,436 (GRCm39)	H140N	probably damaging	Het
Ifi214	A	T	1: 173,352,402 (GRCm39)	F342L	probably damaging	Het
Ip6k1	A	G	9: 107,909,288 (GRCm39)	D105G	possibly damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kif18a	G	A	2: 109,137,285 (GRCm39)	D506N	probably benign	Het
Klf17	T	A	4: 117,617,812 (GRCm39)	M182L	probably benign	Het
Kmt2d	A	G	15: 98,750,215 (GRCm39)	F2493L	unknown	Het
Lefty1	A	G	1: 180,764,112 (GRCm39)	E84G	probably damaging	Het
Lyst	T	G	13: 13,884,117 (GRCm39)	L2975R	possibly damaging	Het
Magea5	G	A	X: 153,837,174 (GRCm39)	P73S	possibly damaging	Het
Mctp2	T	C	7: 71,740,079 (GRCm39)		probably null	Het
Mprip	C	T	11: 59,649,047 (GRCm39)	T917M	possibly damaging	Het
Myh8	T	A	11: 67,194,481 (GRCm39)	I1564N	probably benign	Het
Npc1	A	T	18: 12,328,105 (GRCm39)	M1068K	probably benign	Het
Nr2e1	A	G	10: 42,450,433 (GRCm39)	C60R	probably benign	Het
Nrxn3	A	G	12: 89,780,254 (GRCm39)	I29V	probably benign	Het
Ntsr1	T	A	2: 180,180,610 (GRCm39)	H305Q	probably damaging	Het
Or2y1e	A	G	11: 49,218,571 (GRCm39)	E111G	probably damaging	Het
Or8g35	A	G	9: 39,381,612 (GRCm39)	S137P	probably benign	Het
Or8h10	T	A	2: 86,808,538 (GRCm39)	I201F	probably damaging	Het
Pate2	A	C	9: 35,581,197 (GRCm39)	E22D	probably benign	Het
Pcdhb22	A	G	18: 37,652,158 (GRCm39)	T209A	probably damaging	Het
Pdss2	C	T	10: 43,340,628 (GRCm39)	S352F	probably benign	Het
Pfn3	T	A	13: 55,562,900 (GRCm39)	D27V	probably damaging	Het
Pigg	T	G	5: 108,461,920 (GRCm39)	S84A	probably benign	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Prss22	C	T	17: 24,213,592 (GRCm39)	G233E	probably damaging	Het
Scn10a	A	G	9: 119,438,970 (GRCm39)	V1632A	possibly damaging	Het
Serpinb3d	T	G	1: 107,007,512 (GRCm39)	D158A	probably damaging	Het
Sh3yl1	T	C	12: 31,008,868 (GRCm39)	L266P	probably damaging	Het
Sidt2	A	T	9: 45,852,873 (GRCm39)		probably null	Het
Stox1	C	T	10: 62,501,778 (GRCm39)	V261M	probably benign	Het
Taf7l2	T	A	10: 115,949,158 (GRCm39)	K123*	probably null	Het
Tll1	A	G	8: 64,504,483 (GRCm39)	Y638H	probably damaging	Het
Tst	A	T	15: 78,289,816 (GRCm39)	M73K	possibly damaging	Het
Tuba4a	C	T	1: 75,193,003 (GRCm39)	V232M	probably benign	Het
Unk	T	A	11: 115,943,908 (GRCm39)	V343D	probably benign	Het
Usf3	T	C	16: 44,039,426 (GRCm39)	V1302A	probably benign	Het
Usp32	A	T	11: 84,885,234 (GRCm39)	L1271H	probably damaging	Het
Vwa5b2	C	T	16: 20,413,361 (GRCm39)	P192L	probably benign	Het
Zfp995	A	G	17: 22,100,984 (GRCm39)	Y38H	probably damaging	Het

Other mutations in Rad51b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Rad51b	APN	12	79,349,327 (GRCm39)	missense	probably benign	0.00
IGL01599:Rad51b	APN	12	79,374,002 (GRCm39)	missense	probably benign	0.30
IGL02955:Rad51b	APN	12	79,371,856 (GRCm39)	nonsense	probably null
R1544:Rad51b	UTSW	12	79,349,317 (GRCm39)	missense	possibly damaging	0.87
R2998:Rad51b	UTSW	12	79,349,263 (GRCm39)	missense	probably damaging	1.00
R3784:Rad51b	UTSW	12	79,347,419 (GRCm39)	nonsense	probably null
R4076:Rad51b	UTSW	12	79,361,656 (GRCm39)	missense	probably damaging	1.00
R5916:Rad51b	UTSW	12	79,371,856 (GRCm39)	nonsense	probably null
R7489:Rad51b	UTSW	12	79,347,359 (GRCm39)	nonsense	probably null
R8160:Rad51b	UTSW	12	79,350,115 (GRCm39)	missense	probably benign	0.00
R8206:Rad51b	UTSW	12	79,361,715 (GRCm39)	missense	probably damaging	1.00
R8489:Rad51b	UTSW	12	79,374,024 (GRCm39)	missense	probably benign	0.08
R8977:Rad51b	UTSW	12	79,704,662 (GRCm39)	missense	probably damaging	1.00
R9015:Rad51b	UTSW	12	79,347,417 (GRCm39)	missense	probably damaging	1.00
R9073:Rad51b	UTSW	12	79,344,439 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTGACCACTTTGAGATGTTTAAGAC -3'
(R):5'- AGTGAATGTACCGCTGAGCC -3'

Sequencing Primer
(F):5'- TGTAAACCAGACTGGCCTTG -3'
(R):5'- AGAGCCAGCCCTTCCTC -3'

Posted On

2019-11-26