Mutagenetix > Incidental Mutation

Incidental Mutation 'R5067:Ahnak2'

388382

Institutional Source

Beutler Lab

Gene Symbol

Ahnak2

Ensembl Gene

ENSMUSG00000072812

Gene Name

AHNAK nucleoprotein 2

Synonyms

LOC382643

MMRRC Submission

042657-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112738631-112766278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112748936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 304 (N304D)

Ref Sequence

ENSEMBL: ENSMUSP00000114522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124526]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000124526
AA Change: N304D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000114522
Gene: ENSMUSG00000072812
AA Change: N304D

Domain	Start	End	E-Value	Type
low complexity region	73	94	N/A	INTRINSIC
PDZ	118	190	6e-4	SMART
low complexity region	268	281	N/A	INTRINSIC
low complexity region	300	319	N/A	INTRINSIC
low complexity region	405	429	N/A	INTRINSIC
internal_repeat_1	465	898	2.74e-235	PROSPERO
low complexity region	905	923	N/A	INTRINSIC
low complexity region	990	1013	N/A	INTRINSIC
low complexity region	1076	1092	N/A	INTRINSIC
internal_repeat_1	1145	1588	2.74e-235	PROSPERO
low complexity region	1590	1632	N/A	INTRINSIC
low complexity region	1639	1700	N/A	INTRINSIC
low complexity region	1709	1736	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137195

SMART Domains

Protein: ENSMUSP00000116582
Gene: ENSMUSG00000072812

Domain	Start	End	E-Value	Type
internal_repeat_1	2	521	3.81e-221	PROSPERO
low complexity region	557	569	N/A	INTRINSIC
internal_repeat_1	606	1126	3.81e-221	PROSPERO

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr7a5	T	C	4: 139,038,333 (GRCm39)	S90P	probably damaging	Het
Aplnr	T	A	2: 84,967,128 (GRCm39)	V51E	probably damaging	Het
Arhgap21	A	T	2: 20,884,848 (GRCm39)	H776Q	probably damaging	Het
Asxl3	C	G	18: 22,658,356 (GRCm39)	A2122G	possibly damaging	Het
Bsn	T	A	9: 107,989,152 (GRCm39)	Y2200F	probably damaging	Het
Btbd10	A	T	7: 112,925,043 (GRCm39)	D268E	probably damaging	Het
Cacna1h	T	C	17: 25,616,782 (GRCm39)	N113D	probably damaging	Het
Cfap54	T	C	10: 92,902,628 (GRCm39)	N175D	probably benign	Het
Cfap61	A	G	2: 145,943,956 (GRCm39)	D134G	probably damaging	Het
Clybl	A	T	14: 122,616,701 (GRCm39)	I239L	possibly damaging	Het
Defb11	A	T	8: 22,396,352 (GRCm39)	F15Y	probably damaging	Het
Dlc1	A	G	8: 37,051,647 (GRCm39)	S695P	probably benign	Het
Fbxl5	T	C	5: 43,916,114 (GRCm39)	K432E	probably benign	Het
Fryl	T	C	5: 73,215,098 (GRCm39)	E2226G	probably benign	Het
Gm10337	T	A	15: 102,412,306 (GRCm39)		probably null	Het
Gm5828	A	G	1: 16,839,516 (GRCm39)		noncoding transcript	Het
Gm8674	A	T	13: 50,053,870 (GRCm39)		noncoding transcript	Het
Ighv6-5	T	C	12: 114,380,191 (GRCm39)		probably null	Het
Insyn2a	A	T	7: 134,520,284 (GRCm39)	V82E	probably benign	Het
Ints14	C	A	9: 64,871,694 (GRCm39)	L11M	probably damaging	Het
Kcp	G	A	6: 29,492,107 (GRCm39)	P153L	probably benign	Het
Lrrk2	A	C	15: 91,649,993 (GRCm39)	N1710T	probably benign	Het
Marchf10	T	A	11: 105,280,933 (GRCm39)	T451S	possibly damaging	Het
Mcf2l	T	G	8: 12,965,959 (GRCm39)		probably benign	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Neurod2	T	A	11: 98,218,063 (GRCm39)	H367L	possibly damaging	Het
Nfatc4	A	T	14: 56,069,875 (GRCm39)	Q681L	probably damaging	Het
Nkx3-2	T	C	5: 41,919,220 (GRCm39)	N256S	probably damaging	Het
Ntng1	G	A	3: 110,042,661 (GRCm39)	T55M	possibly damaging	Het
Snd1	C	A	6: 28,888,239 (GRCm39)	N891K	probably damaging	Het
Syt7	T	C	19: 10,420,222 (GRCm39)	V382A	possibly damaging	Het
Trim72	T	C	7: 127,609,139 (GRCm39)	S314P	possibly damaging	Het
Ttc41	T	C	10: 86,580,408 (GRCm39)	S785P	probably damaging	Het
Ube2z	C	T	11: 95,953,835 (GRCm39)	V128I	probably benign	Het
Vps26c	T	A	16: 94,327,263 (GRCm39)		probably benign	Het
Wdr43	T	C	17: 71,933,849 (GRCm39)	Y149H	probably benign	Het
Wnk4	T	A	11: 101,153,682 (GRCm39)	V248E	probably damaging	Het
Zcchc2	A	T	1: 105,958,694 (GRCm39)	N1055I	probably damaging	Het
Zdhhc23	T	C	16: 43,794,134 (GRCm39)	Y180C	probably benign	Het

Other mutations in Ahnak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02257:Ahnak2	APN	12	112,748,905 (GRCm39)	missense	possibly damaging	0.79
IGL02994:Ahnak2	APN	12	112,749,827 (GRCm39)	missense	probably damaging	0.99
PIT4480001:Ahnak2	UTSW	12	112,740,358 (GRCm39)	missense	possibly damaging	0.79
PIT4810001:Ahnak2	UTSW	12	112,749,214 (GRCm39)	missense
R0025:Ahnak2	UTSW	12	112,749,154 (GRCm39)	missense	probably damaging	0.99
R0025:Ahnak2	UTSW	12	112,749,154 (GRCm39)	missense	probably damaging	0.99
R0038:Ahnak2	UTSW	12	112,740,896 (GRCm39)	missense	probably benign	0.00
R0125:Ahnak2	UTSW	12	112,748,776 (GRCm39)	missense	probably benign	0.41
R1173:Ahnak2	UTSW	12	112,749,409 (GRCm39)	missense	probably damaging	1.00
R1494:Ahnak2	UTSW	12	112,751,570 (GRCm39)	missense	probably damaging	1.00
R1712:Ahnak2	UTSW	12	112,748,998 (GRCm39)	missense	probably benign	0.05
R1888:Ahnak2	UTSW	12	112,740,325 (GRCm39)	missense	possibly damaging	0.49
R1888:Ahnak2	UTSW	12	112,740,325 (GRCm39)	missense	possibly damaging	0.49
R2042:Ahnak2	UTSW	12	112,749,439 (GRCm39)	missense	probably damaging	0.98
R2056:Ahnak2	UTSW	12	112,748,626 (GRCm39)	missense	probably benign	0.00
R2417:Ahnak2	UTSW	12	112,741,805 (GRCm39)	missense	probably damaging	1.00
R2762:Ahnak2	UTSW	12	112,748,984 (GRCm39)	missense	probably damaging	0.96
R3618:Ahnak2	UTSW	12	112,749,842 (GRCm39)	missense	probably damaging	1.00
R3706:Ahnak2	UTSW	12	112,740,085 (GRCm39)	missense	possibly damaging	0.74
R3739:Ahnak2	UTSW	12	112,740,992 (GRCm39)	missense	probably benign	0.05
R3950:Ahnak2	UTSW	12	112,749,409 (GRCm39)	missense	probably damaging	1.00
R4485:Ahnak2	UTSW	12	112,745,944 (GRCm39)	unclassified	probably benign
R4651:Ahnak2	UTSW	12	112,741,271 (GRCm39)	missense	possibly damaging	0.93
R4652:Ahnak2	UTSW	12	112,741,271 (GRCm39)	missense	possibly damaging	0.93
R4831:Ahnak2	UTSW	12	112,742,183 (GRCm39)	missense	probably damaging	0.99
R4836:Ahnak2	UTSW	12	112,740,550 (GRCm39)	missense	probably damaging	1.00
R4837:Ahnak2	UTSW	12	112,749,359 (GRCm39)	missense	probably benign	0.00
R4864:Ahnak2	UTSW	12	112,740,040 (GRCm39)	missense	probably damaging	0.98
R4908:Ahnak2	UTSW	12	112,741,706 (GRCm39)	missense	probably benign	0.00
R5146:Ahnak2	UTSW	12	112,742,160 (GRCm39)	missense	probably benign	0.00
R5228:Ahnak2	UTSW	12	112,741,820 (GRCm39)	missense	probably benign	0.03
R5255:Ahnak2	UTSW	12	112,739,812 (GRCm39)	missense	possibly damaging	0.92
R5323:Ahnak2	UTSW	12	112,745,989 (GRCm39)	unclassified	probably benign
R5523:Ahnak2	UTSW	12	112,741,642 (GRCm39)	missense	probably damaging	1.00
R5733:Ahnak2	UTSW	12	112,742,100 (GRCm39)	nonsense	probably null
R5799:Ahnak2	UTSW	12	112,745,365 (GRCm39)	unclassified	probably benign
R5817:Ahnak2	UTSW	12	112,740,437 (GRCm39)	missense	probably damaging	1.00
R5835:Ahnak2	UTSW	12	112,742,230 (GRCm39)	missense	possibly damaging	0.66
R6083:Ahnak2	UTSW	12	112,746,589 (GRCm39)	missense	probably benign	0.01
R6083:Ahnak2	UTSW	12	112,746,715 (GRCm39)	missense	probably benign	0.06
R6167:Ahnak2	UTSW	12	112,747,750 (GRCm39)	missense	probably benign	0.03
R6168:Ahnak2	UTSW	12	112,747,750 (GRCm39)	missense	probably benign	0.03
R6405:Ahnak2	UTSW	12	112,739,771 (GRCm39)	missense	probably damaging	1.00
R6460:Ahnak2	UTSW	12	112,750,610 (GRCm39)	missense	probably null	0.27
R6495:Ahnak2	UTSW	12	112,740,148 (GRCm39)	missense	probably damaging	1.00
R6544:Ahnak2	UTSW	12	112,746,829 (GRCm39)	unclassified	probably benign
R6656:Ahnak2	UTSW	12	112,748,991 (GRCm39)	missense	probably benign	0.02
R6679:Ahnak2	UTSW	12	112,739,410 (GRCm39)	missense	probably damaging	1.00
R6723:Ahnak2	UTSW	12	112,745,228 (GRCm39)	missense	probably damaging	1.00
R6774:Ahnak2	UTSW	12	112,740,172 (GRCm39)	missense	possibly damaging	0.87
R6884:Ahnak2	UTSW	12	112,741,863 (GRCm39)	missense	possibly damaging	0.81
R6906:Ahnak2	UTSW	12	112,748,933 (GRCm39)	missense	probably benign	0.00
R6919:Ahnak2	UTSW	12	112,741,118 (GRCm39)	missense	possibly damaging	0.55
R7036:Ahnak2	UTSW	12	112,745,216 (GRCm39)	unclassified	probably benign
R7037:Ahnak2	UTSW	12	112,740,712 (GRCm39)	missense	probably damaging	0.99
R7064:Ahnak2	UTSW	12	112,746,919 (GRCm39)	unclassified	probably benign
R7072:Ahnak2	UTSW	12	112,751,786 (GRCm39)	missense
R7112:Ahnak2	UTSW	12	112,747,747 (GRCm39)	missense
R7268:Ahnak2	UTSW	12	112,780,802 (GRCm38)	missense
R7269:Ahnak2	UTSW	12	112,780,802 (GRCm38)	missense
R7270:Ahnak2	UTSW	12	112,780,802 (GRCm38)	missense
R7271:Ahnak2	UTSW	12	112,780,802 (GRCm38)	missense
R7444:Ahnak2	UTSW	12	112,745,831 (GRCm39)	missense
R7448:Ahnak2	UTSW	12	112,746,605 (GRCm39)	missense
R7488:Ahnak2	UTSW	12	112,748,641 (GRCm39)	missense
R7508:Ahnak2	UTSW	12	112,740,839 (GRCm39)	missense	possibly damaging	0.46
R7560:Ahnak2	UTSW	12	112,745,851 (GRCm39)	missense
R7611:Ahnak2	UTSW	12	112,751,749 (GRCm39)	missense
R7743:Ahnak2	UTSW	12	112,748,383 (GRCm39)	missense	not run
R7762:Ahnak2	UTSW	12	112,742,114 (GRCm39)	missense	probably benign	0.27
R7780:Ahnak2	UTSW	12	112,746,716 (GRCm39)	missense
R7930:Ahnak2	UTSW	12	112,745,560 (GRCm39)	missense
R7985:Ahnak2	UTSW	12	112,745,398 (GRCm39)	missense
R8114:Ahnak2	UTSW	12	112,741,163 (GRCm39)	missense	probably benign	0.05
R8122:Ahnak2	UTSW	12	112,742,510 (GRCm39)	missense	possibly damaging	0.83
R8240:Ahnak2	UTSW	12	112,741,082 (GRCm39)	missense	probably benign	0.03
R8289:Ahnak2	UTSW	12	112,742,242 (GRCm39)	missense	possibly damaging	0.46
R8315:Ahnak2	UTSW	12	112,745,756 (GRCm39)	missense
R8430:Ahnak2	UTSW	12	112,741,121 (GRCm39)	missense	possibly damaging	0.86
R8476:Ahnak2	UTSW	12	112,747,100 (GRCm39)	unclassified	probably benign
R8712:Ahnak2	UTSW	12	112,750,709 (GRCm39)	missense
R8712:Ahnak2	UTSW	12	112,749,872 (GRCm39)	missense
R8778:Ahnak2	UTSW	12	112,783,158 (GRCm38)	missense
R8830:Ahnak2	UTSW	12	112,750,656 (GRCm39)	missense
R9014:Ahnak2	UTSW	12	112,740,170 (GRCm39)	missense	possibly damaging	0.95
R9055:Ahnak2	UTSW	12	112,741,019 (GRCm39)	missense	possibly damaging	0.90
R9327:Ahnak2	UTSW	12	112,748,446 (GRCm39)	missense
R9386:Ahnak2	UTSW	12	112,745,428 (GRCm39)	missense
R9445:Ahnak2	UTSW	12	112,745,978 (GRCm39)	missense
R9462:Ahnak2	UTSW	12	112,750,655 (GRCm39)	missense
R9559:Ahnak2	UTSW	12	112,749,782 (GRCm39)	critical splice donor site	probably null
R9571:Ahnak2	UTSW	12	112,742,510 (GRCm39)	missense	possibly damaging	0.83
R9589:Ahnak2	UTSW	12	112,746,831 (GRCm39)	missense
R9664:Ahnak2	UTSW	12	112,741,363 (GRCm39)	missense	probably damaging	0.97
R9711:Ahnak2	UTSW	12	112,739,468 (GRCm39)	missense	possibly damaging	0.83
Z1177:Ahnak2	UTSW	12	112,745,822 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TCAGACATGTACCCAGTTGTCTC -3'
(R):5'- CGAACCCAGGACAGATTCTC -3'

Sequencing Primer
(F):5'- ACATGTACCCAGTTGTCTCTTTCTTG -3'
(R):5'- GACAGATTCTCCTGGCCAAAATTTC -3'

Posted On

2016-06-06