Mutagenetix > Incidental Mutation

Incidental Mutation 'R6323:Ctrb1'

510205

Institutional Source

Beutler Lab

Gene Symbol

Ctrb1

Ensembl Gene

ENSMUSG00000031957

Gene Name

chymotrypsinogen B1

Synonyms

2200008D09Rik, Prt-2

MMRRC Submission

044477-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.442) question?

Stock #

R6323 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112413151-112417642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112416223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 21 (V21A)

Ref Sequence

ENSEMBL: ENSMUSP00000034435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034435]

AlphaFold

Q9CR35

Predicted Effect

probably benign
Transcript: ENSMUST00000034435
AA Change: V21A

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034435
Gene: ENSMUSG00000031957
AA Change: V21A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	33	256	2.69e-98	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183519

Meta Mutation Damage Score

0.0970

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (40/41)

Allele List at MGI

All alleles(8) : Targeted(2) Gene trapped(6)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,436,568 (GRCm39)	T171A	unknown	Het
Akr1c6	A	G	13: 4,497,017 (GRCm39)	K153R	possibly damaging	Het
Ano1	T	A	7: 144,165,423 (GRCm39)	I601F	possibly damaging	Het
Arfgef2	A	G	2: 166,676,404 (GRCm39)	Y8C	probably damaging	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Baz2a	A	G	10: 127,962,286 (GRCm39)	I1816V	probably benign	Het
Cadps2	T	A	6: 23,263,577 (GRCm39)	T1294S	probably benign	Het
Casz1	T	C	4: 149,026,161 (GRCm39)	S952P	possibly damaging	Het
Cdc20	T	C	4: 118,292,761 (GRCm39)	N329S	probably damaging	Het
Ceacam1	A	C	7: 25,174,076 (GRCm39)	L193R	probably damaging	Het
Celf5	A	G	10: 81,305,337 (GRCm39)	S143P	probably damaging	Het
Cfap74	A	G	4: 155,548,395 (GRCm39)	D1342G	possibly damaging	Het
Chd5	C	A	4: 152,451,791 (GRCm39)	T701K	probably damaging	Het
Cpt1b	C	A	15: 89,303,266 (GRCm39)	M596I	probably benign	Het
Diaph3	C	T	14: 87,203,889 (GRCm39)	V579I	probably benign	Het
Dlc1	T	C	8: 37,405,537 (GRCm39)	E84G	possibly damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Galns	T	C	8: 123,325,390 (GRCm39)	D254G	probably damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Gstm1	A	G	3: 107,925,063 (GRCm39)	V10A	probably benign	Het
Krt13	C	A	11: 100,011,976 (GRCm39)	A116S	probably damaging	Het
Lars2	A	T	9: 123,270,659 (GRCm39)	K584*	probably null	Het
Lrrc43	G	T	5: 123,641,949 (GRCm39)	G600W	probably damaging	Het
Madd	G	T	2: 90,991,783 (GRCm39)		probably null	Het
Mnat1	A	G	12: 73,214,878 (GRCm39)	D65G	probably damaging	Het
Nsmf	A	G	2: 24,945,063 (GRCm39)	N42S	possibly damaging	Het
Or4k77	T	C	2: 111,199,046 (GRCm39)	L23P	possibly damaging	Het
Or5ac16	A	G	16: 59,022,645 (GRCm39)	L48P	probably damaging	Het
Palld	A	T	8: 62,173,727 (GRCm39)	W311R	probably damaging	Het
Pax1	T	A	2: 147,210,321 (GRCm39)	V352E	probably damaging	Het
Rnf2	T	C	1: 151,348,967 (GRCm39)	K51R	probably damaging	Het
Rpl7l1	C	A	17: 47,093,564 (GRCm39)		probably benign	Het
Slc1a6	G	A	10: 78,648,721 (GRCm39)	G481S	probably damaging	Het
Slc34a1	A	G	13: 23,998,969 (GRCm39)	I121V	probably benign	Het
Spata31h1	G	A	10: 82,118,916 (GRCm39)	T4698I	probably benign	Het
Trav6-1	T	C	14: 52,876,248 (GRCm39)	V56A	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r79	T	A	7: 86,650,522 (GRCm39)	C103S	probably benign	Het
Wwp2	A	T	8: 108,267,303 (GRCm39)	H305L	probably damaging	Het
Zfp593	A	G	4: 133,972,224 (GRCm39)	V94A	probably benign	Het

Other mutations in Ctrb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02322:Ctrb1	APN	8	112,415,951 (GRCm39)	splice site	probably null
IGL02348:Ctrb1	APN	8	112,413,762 (GRCm39)	missense	possibly damaging	0.93
R0066:Ctrb1	UTSW	8	112,413,269 (GRCm39)	nonsense	probably null
R0066:Ctrb1	UTSW	8	112,413,269 (GRCm39)	nonsense	probably null
R0371:Ctrb1	UTSW	8	112,413,783 (GRCm39)	missense	probably benign	0.43
R1468:Ctrb1	UTSW	8	112,416,041 (GRCm39)	splice site	probably benign
R1928:Ctrb1	UTSW	8	112,415,324 (GRCm39)	missense	probably benign	0.00
R1944:Ctrb1	UTSW	8	112,416,151 (GRCm39)	missense	probably damaging	1.00
R2026:Ctrb1	UTSW	8	112,415,317 (GRCm39)	missense	probably benign	0.09
R4898:Ctrb1	UTSW	8	112,413,783 (GRCm39)	missense	probably benign	0.43
R6791:Ctrb1	UTSW	8	112,415,981 (GRCm39)	missense	possibly damaging	0.76
R6868:Ctrb1	UTSW	8	112,416,035 (GRCm39)	missense	probably benign	0.03
R6954:Ctrb1	UTSW	8	112,413,296 (GRCm39)	missense	probably damaging	0.99
R7528:Ctrb1	UTSW	8	112,413,783 (GRCm39)	missense	probably benign	0.43
R8130:Ctrb1	UTSW	8	112,415,823 (GRCm39)	missense	possibly damaging	0.85
R9218:Ctrb1	UTSW	8	112,416,140 (GRCm39)	missense	probably damaging	1.00
Z1177:Ctrb1	UTSW	8	112,413,306 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGAAGCCAGTTCTGTCCTG -3'
(R):5'- GACTCAGTGGTCCAACTTGTTTTC -3'

Sequencing Primer
(F):5'- TAATGTCAGTGCCTCCC -3'
(R):5'- TTCTCCTGTGACATGCCTGG -3'

Posted On

2018-04-02